Incidental Mutation 'IGL01126:Ubr4'
ID |
50951 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ubr4
|
Ensembl Gene |
ENSMUSG00000066036 |
Gene Name |
ubiquitin protein ligase E3 component n-recognin 4 |
Synonyms |
LOC381562, D930005K06Rik, Zubr1, p600, 1810009A16Rik, A930005E13Rik |
Accession Numbers |
Ncbi RefSeq: NM_001160319.1; MGI:1916366
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01126
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
139352609-139489588 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 139402555 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 662
(M662K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125800
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097822]
[ENSMUST00000147999]
[ENSMUST00000165860]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000097822
AA Change: M662K
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000095433 Gene: ENSMUSG00000066036 AA Change: M662K
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
20 |
N/A |
INTRINSIC |
low complexity region
|
414 |
425 |
N/A |
INTRINSIC |
low complexity region
|
530 |
541 |
N/A |
INTRINSIC |
low complexity region
|
555 |
566 |
N/A |
INTRINSIC |
low complexity region
|
571 |
588 |
N/A |
INTRINSIC |
low complexity region
|
600 |
621 |
N/A |
INTRINSIC |
low complexity region
|
1312 |
1330 |
N/A |
INTRINSIC |
low complexity region
|
1642 |
1655 |
N/A |
INTRINSIC |
Pfam:zf-UBR
|
1660 |
1725 |
1.9e-9 |
PFAM |
Blast:ZnF_C2H2
|
1966 |
1991 |
6e-8 |
BLAST |
low complexity region
|
2268 |
2279 |
N/A |
INTRINSIC |
low complexity region
|
2502 |
2540 |
N/A |
INTRINSIC |
low complexity region
|
2725 |
2735 |
N/A |
INTRINSIC |
low complexity region
|
2818 |
2852 |
N/A |
INTRINSIC |
low complexity region
|
2887 |
2905 |
N/A |
INTRINSIC |
low complexity region
|
2928 |
2942 |
N/A |
INTRINSIC |
low complexity region
|
2945 |
2959 |
N/A |
INTRINSIC |
low complexity region
|
2966 |
2986 |
N/A |
INTRINSIC |
low complexity region
|
3063 |
3091 |
N/A |
INTRINSIC |
low complexity region
|
3329 |
3385 |
N/A |
INTRINSIC |
low complexity region
|
3776 |
3788 |
N/A |
INTRINSIC |
Pfam:E3_UbLigase_R4
|
4364 |
5160 |
N/A |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133220
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147999
|
SMART Domains |
Protein: ENSMUSP00000117419 Gene: ENSMUSG00000066036
Domain | Start | End | E-Value | Type |
low complexity region
|
170 |
226 |
N/A |
INTRINSIC |
low complexity region
|
617 |
629 |
N/A |
INTRINSIC |
Pfam:E3_UbLigase_R4
|
1205 |
1301 |
4.5e-60 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165860
AA Change: M662K
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000125800 Gene: ENSMUSG00000066036 AA Change: M662K
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
20 |
N/A |
INTRINSIC |
low complexity region
|
414 |
425 |
N/A |
INTRINSIC |
low complexity region
|
530 |
541 |
N/A |
INTRINSIC |
low complexity region
|
555 |
566 |
N/A |
INTRINSIC |
low complexity region
|
571 |
588 |
N/A |
INTRINSIC |
low complexity region
|
600 |
621 |
N/A |
INTRINSIC |
low complexity region
|
1312 |
1330 |
N/A |
INTRINSIC |
low complexity region
|
1642 |
1655 |
N/A |
INTRINSIC |
Pfam:zf-UBR
|
1659 |
1729 |
4e-13 |
PFAM |
Blast:ZnF_C2H2
|
1966 |
1991 |
5e-8 |
BLAST |
low complexity region
|
2268 |
2279 |
N/A |
INTRINSIC |
low complexity region
|
2513 |
2551 |
N/A |
INTRINSIC |
low complexity region
|
2736 |
2746 |
N/A |
INTRINSIC |
low complexity region
|
2863 |
2881 |
N/A |
INTRINSIC |
low complexity region
|
2904 |
2918 |
N/A |
INTRINSIC |
low complexity region
|
2921 |
2935 |
N/A |
INTRINSIC |
low complexity region
|
2942 |
2962 |
N/A |
INTRINSIC |
low complexity region
|
3039 |
3067 |
N/A |
INTRINSIC |
low complexity region
|
3305 |
3361 |
N/A |
INTRINSIC |
low complexity region
|
3752 |
3764 |
N/A |
INTRINSIC |
Pfam:E3_UbLigase_R4
|
4340 |
5136 |
N/A |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
Strain: 5286698
Lethality: D1-D5
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an E3 ubiquitin-protein ligase that interacts with the retinoblastoma-associated protein in the nucleus and with calcium-bound calmodulin in the cytoplasm. The encoded protein appears to be a cytoskeletal component in the cytoplasm and part of the chromatin scaffold in the nucleus. In addition, this protein is a target of the human papillomavirus type 16 E7 oncoprotein. [provided by RefSeq, Aug 2010] PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit neonatal lethality and decreased body size at birth. Mice homozygous for a null mutation display complete embryonic lethality during organogenesis with arrest of vitelline vascular remodeling. [provided by MGI curators]
|
Allele List at MGI |
All alleles(59) : Targeted(2) Gene trapped(56) Transgenic(1)
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aen |
G |
A |
7: 78,907,302 |
M299I |
probably damaging |
Het |
Aldh9a1 |
C |
T |
1: 167,364,574 |
T425I |
probably benign |
Het |
Cc2d1a |
G |
T |
8: 84,143,404 |
H161N |
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,535,846 |
D939N |
unknown |
Het |
Dnah5 |
T |
G |
15: 28,302,399 |
F1601V |
possibly damaging |
Het |
Dock7 |
A |
G |
4: 98,973,552 |
|
probably benign |
Het |
Dync2h1 |
T |
C |
9: 7,116,588 |
I83V |
probably benign |
Het |
Fbxw17 |
A |
G |
13: 50,423,300 |
E76G |
possibly damaging |
Het |
Map3k19 |
T |
A |
1: 127,824,331 |
K428* |
probably null |
Het |
Phkb |
T |
C |
8: 85,946,101 |
M365T |
probably benign |
Het |
Phyhip |
A |
G |
14: 70,463,357 |
S95G |
probably benign |
Het |
Pla1a |
T |
C |
16: 38,407,639 |
D292G |
probably benign |
Het |
Prkdc |
T |
A |
16: 15,669,321 |
V496D |
probably benign |
Het |
Rasal3 |
T |
C |
17: 32,397,405 |
T271A |
possibly damaging |
Het |
Slc22a19 |
T |
C |
19: 7,674,283 |
N520D |
possibly damaging |
Het |
Sugp2 |
T |
C |
8: 70,251,874 |
L687P |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,707,246 |
H34779Q |
probably benign |
Het |
Txlna |
A |
G |
4: 129,634,365 |
|
probably benign |
Het |
Ugt1a10 |
C |
A |
1: 88,055,987 |
A169E |
possibly damaging |
Het |
|
Other mutations in Ubr4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00087:Ubr4
|
APN |
4 |
139465322 |
missense |
possibly damaging |
0.46 |
IGL00336:Ubr4
|
APN |
4 |
139428566 |
missense |
probably damaging |
1.00 |
IGL00586:Ubr4
|
APN |
4 |
139455184 |
missense |
possibly damaging |
0.95 |
IGL00659:Ubr4
|
APN |
4 |
139421245 |
missense |
probably damaging |
1.00 |
IGL00766:Ubr4
|
APN |
4 |
139440766 |
missense |
probably damaging |
1.00 |
IGL00819:Ubr4
|
APN |
4 |
139476282 |
missense |
possibly damaging |
0.92 |
IGL00833:Ubr4
|
APN |
4 |
139393159 |
critical splice donor site |
probably null |
|
IGL01311:Ubr4
|
APN |
4 |
139479045 |
missense |
possibly damaging |
0.66 |
IGL01349:Ubr4
|
APN |
4 |
139480728 |
missense |
unknown |
|
IGL01388:Ubr4
|
APN |
4 |
139460243 |
missense |
possibly damaging |
0.76 |
IGL01417:Ubr4
|
APN |
4 |
139410800 |
missense |
probably damaging |
0.99 |
IGL01446:Ubr4
|
APN |
4 |
139438040 |
splice site |
probably benign |
|
IGL01449:Ubr4
|
APN |
4 |
139412736 |
missense |
probably damaging |
0.98 |
IGL01545:Ubr4
|
APN |
4 |
139442829 |
splice site |
probably benign |
|
IGL01568:Ubr4
|
APN |
4 |
139421373 |
missense |
probably damaging |
1.00 |
IGL01596:Ubr4
|
APN |
4 |
139462534 |
splice site |
probably benign |
|
IGL01621:Ubr4
|
APN |
4 |
139440783 |
nonsense |
probably null |
|
IGL01639:Ubr4
|
APN |
4 |
139417344 |
missense |
probably damaging |
0.99 |
IGL01655:Ubr4
|
APN |
4 |
139407796 |
missense |
probably damaging |
1.00 |
IGL01710:Ubr4
|
APN |
4 |
139418461 |
missense |
possibly damaging |
0.81 |
IGL01830:Ubr4
|
APN |
4 |
139472500 |
missense |
probably damaging |
0.99 |
IGL01862:Ubr4
|
APN |
4 |
139477158 |
missense |
possibly damaging |
0.66 |
IGL01868:Ubr4
|
APN |
4 |
139412678 |
nonsense |
probably null |
|
IGL01874:Ubr4
|
APN |
4 |
139393289 |
splice site |
probably benign |
|
IGL01889:Ubr4
|
APN |
4 |
139462472 |
nonsense |
probably null |
|
IGL01891:Ubr4
|
APN |
4 |
139436260 |
critical splice donor site |
probably null |
|
IGL01980:Ubr4
|
APN |
4 |
139429602 |
missense |
probably damaging |
0.99 |
IGL02126:Ubr4
|
APN |
4 |
139452741 |
critical splice donor site |
probably null |
|
IGL02153:Ubr4
|
APN |
4 |
139460160 |
nonsense |
probably null |
|
IGL02173:Ubr4
|
APN |
4 |
139437070 |
splice site |
probably null |
|
IGL02214:Ubr4
|
APN |
4 |
139428583 |
missense |
possibly damaging |
0.95 |
IGL02214:Ubr4
|
APN |
4 |
139461827 |
critical splice acceptor site |
probably null |
|
IGL02220:Ubr4
|
APN |
4 |
139388435 |
missense |
probably benign |
0.01 |
IGL02246:Ubr4
|
APN |
4 |
139459103 |
missense |
possibly damaging |
0.89 |
IGL02264:Ubr4
|
APN |
4 |
139455628 |
nonsense |
probably null |
|
IGL02273:Ubr4
|
APN |
4 |
139472578 |
missense |
possibly damaging |
0.94 |
IGL02316:Ubr4
|
APN |
4 |
139473178 |
missense |
possibly damaging |
0.46 |
IGL02328:Ubr4
|
APN |
4 |
139478922 |
missense |
probably damaging |
0.97 |
IGL02476:Ubr4
|
APN |
4 |
139421249 |
nonsense |
probably null |
|
IGL02477:Ubr4
|
APN |
4 |
139436205 |
missense |
probably damaging |
0.98 |
IGL02544:Ubr4
|
APN |
4 |
139415118 |
missense |
probably damaging |
1.00 |
IGL02622:Ubr4
|
APN |
4 |
139467250 |
nonsense |
probably null |
|
IGL02679:Ubr4
|
APN |
4 |
139459134 |
missense |
probably damaging |
0.99 |
IGL02728:Ubr4
|
APN |
4 |
139468811 |
missense |
probably damaging |
1.00 |
IGL02754:Ubr4
|
APN |
4 |
139410784 |
missense |
probably damaging |
0.99 |
IGL02754:Ubr4
|
APN |
4 |
139393159 |
critical splice donor site |
probably null |
|
IGL02892:Ubr4
|
APN |
4 |
139417331 |
missense |
probably damaging |
0.96 |
IGL02897:Ubr4
|
APN |
4 |
139472508 |
missense |
probably damaging |
0.97 |
IGL02946:Ubr4
|
APN |
4 |
139425295 |
missense |
probably damaging |
1.00 |
IGL02964:Ubr4
|
APN |
4 |
139407820 |
missense |
possibly damaging |
0.84 |
IGL03059:Ubr4
|
APN |
4 |
139480676 |
missense |
probably damaging |
0.98 |
IGL03068:Ubr4
|
APN |
4 |
139409730 |
missense |
probably benign |
0.02 |
IGL03087:Ubr4
|
APN |
4 |
139450357 |
nonsense |
probably null |
|
IGL03116:Ubr4
|
APN |
4 |
139479581 |
splice site |
probably benign |
|
IGL03212:Ubr4
|
APN |
4 |
139409763 |
missense |
probably benign |
0.13 |
IGL03228:Ubr4
|
APN |
4 |
139429598 |
missense |
probably damaging |
1.00 |
IGL03292:Ubr4
|
APN |
4 |
139440435 |
missense |
probably damaging |
1.00 |
IGL03388:Ubr4
|
APN |
4 |
139415032 |
missense |
probably damaging |
0.98 |
IGL03393:Ubr4
|
APN |
4 |
139452678 |
missense |
probably damaging |
1.00 |
IGL03409:Ubr4
|
APN |
4 |
139399929 |
nonsense |
probably null |
|
Aqua_regia
|
UTSW |
4 |
139452719 |
nonsense |
probably null |
|
Eats
|
UTSW |
4 |
139463575 |
missense |
probably damaging |
0.97 |
Hardened
|
UTSW |
4 |
139468847 |
missense |
probably damaging |
1.00 |
Stoney
|
UTSW |
4 |
139444687 |
missense |
probably damaging |
1.00 |
Uber
|
UTSW |
4 |
139479062 |
critical splice donor site |
probably null |
|
BB001:Ubr4
|
UTSW |
4 |
139467276 |
missense |
unknown |
|
BB011:Ubr4
|
UTSW |
4 |
139467276 |
missense |
unknown |
|
P0019:Ubr4
|
UTSW |
4 |
139451781 |
missense |
probably damaging |
1.00 |
PIT4544001:Ubr4
|
UTSW |
4 |
139402560 |
missense |
possibly damaging |
0.93 |
R0001:Ubr4
|
UTSW |
4 |
139451788 |
missense |
probably damaging |
1.00 |
R0002:Ubr4
|
UTSW |
4 |
139390900 |
missense |
probably damaging |
1.00 |
R0006:Ubr4
|
UTSW |
4 |
139431649 |
missense |
probably benign |
0.03 |
R0006:Ubr4
|
UTSW |
4 |
139431649 |
missense |
probably benign |
0.03 |
R0008:Ubr4
|
UTSW |
4 |
139430176 |
missense |
probably damaging |
1.00 |
R0027:Ubr4
|
UTSW |
4 |
139400393 |
missense |
probably damaging |
0.99 |
R0027:Ubr4
|
UTSW |
4 |
139400393 |
missense |
probably damaging |
0.99 |
R0030:Ubr4
|
UTSW |
4 |
139426793 |
missense |
probably damaging |
1.00 |
R0044:Ubr4
|
UTSW |
4 |
139437058 |
splice site |
probably benign |
|
R0044:Ubr4
|
UTSW |
4 |
139437058 |
splice site |
probably benign |
|
R0088:Ubr4
|
UTSW |
4 |
139440814 |
missense |
probably damaging |
1.00 |
R0131:Ubr4
|
UTSW |
4 |
139464051 |
missense |
possibly damaging |
0.66 |
R0184:Ubr4
|
UTSW |
4 |
139445262 |
missense |
probably damaging |
1.00 |
R0219:Ubr4
|
UTSW |
4 |
139430257 |
missense |
possibly damaging |
0.64 |
R0227:Ubr4
|
UTSW |
4 |
139431649 |
missense |
probably benign |
0.03 |
R0270:Ubr4
|
UTSW |
4 |
139479435 |
splice site |
probably benign |
|
R0285:Ubr4
|
UTSW |
4 |
139440801 |
missense |
probably damaging |
1.00 |
R0322:Ubr4
|
UTSW |
4 |
139422418 |
missense |
probably damaging |
1.00 |
R0363:Ubr4
|
UTSW |
4 |
139391860 |
missense |
probably damaging |
0.98 |
R0393:Ubr4
|
UTSW |
4 |
139410860 |
splice site |
probably benign |
|
R0450:Ubr4
|
UTSW |
4 |
139430223 |
missense |
probably benign |
0.14 |
R0504:Ubr4
|
UTSW |
4 |
139406578 |
missense |
probably damaging |
1.00 |
R0504:Ubr4
|
UTSW |
4 |
139480838 |
critical splice donor site |
probably null |
|
R0510:Ubr4
|
UTSW |
4 |
139430223 |
missense |
probably benign |
0.14 |
R0513:Ubr4
|
UTSW |
4 |
139416875 |
missense |
possibly damaging |
0.74 |
R0517:Ubr4
|
UTSW |
4 |
139392124 |
missense |
probably benign |
0.00 |
R0558:Ubr4
|
UTSW |
4 |
139426902 |
missense |
probably benign |
0.09 |
R0617:Ubr4
|
UTSW |
4 |
139479062 |
critical splice donor site |
probably null |
|
R0636:Ubr4
|
UTSW |
4 |
139436302 |
splice site |
probably null |
|
R0637:Ubr4
|
UTSW |
4 |
139399615 |
missense |
probably damaging |
1.00 |
R0652:Ubr4
|
UTSW |
4 |
139401326 |
missense |
probably damaging |
0.99 |
R0691:Ubr4
|
UTSW |
4 |
139423906 |
missense |
probably damaging |
1.00 |
R0729:Ubr4
|
UTSW |
4 |
139485320 |
missense |
possibly damaging |
0.66 |
R0735:Ubr4
|
UTSW |
4 |
139428028 |
splice site |
probably null |
|
R0751:Ubr4
|
UTSW |
4 |
139437198 |
splice site |
probably benign |
|
R0789:Ubr4
|
UTSW |
4 |
139410271 |
critical splice donor site |
probably null |
|
R0825:Ubr4
|
UTSW |
4 |
139479576 |
critical splice donor site |
probably null |
|
R0828:Ubr4
|
UTSW |
4 |
139450553 |
splice site |
probably benign |
|
R1052:Ubr4
|
UTSW |
4 |
139455460 |
missense |
possibly damaging |
0.83 |
R1184:Ubr4
|
UTSW |
4 |
139437198 |
splice site |
probably benign |
|
R1222:Ubr4
|
UTSW |
4 |
139388471 |
splice site |
probably null |
|
R1258:Ubr4
|
UTSW |
4 |
139426914 |
missense |
probably damaging |
1.00 |
R1321:Ubr4
|
UTSW |
4 |
139460123 |
missense |
possibly damaging |
0.46 |
R1385:Ubr4
|
UTSW |
4 |
139402612 |
missense |
probably benign |
0.00 |
R1450:Ubr4
|
UTSW |
4 |
139468028 |
missense |
probably damaging |
1.00 |
R1470:Ubr4
|
UTSW |
4 |
139421226 |
splice site |
probably null |
|
R1470:Ubr4
|
UTSW |
4 |
139421226 |
splice site |
probably null |
|
R1474:Ubr4
|
UTSW |
4 |
139429579 |
missense |
probably damaging |
1.00 |
R1479:Ubr4
|
UTSW |
4 |
139425840 |
missense |
possibly damaging |
0.95 |
R1534:Ubr4
|
UTSW |
4 |
139428151 |
missense |
possibly damaging |
0.95 |
R1546:Ubr4
|
UTSW |
4 |
139416927 |
nonsense |
probably null |
|
R1785:Ubr4
|
UTSW |
4 |
139423945 |
missense |
probably damaging |
1.00 |
R1786:Ubr4
|
UTSW |
4 |
139423945 |
missense |
probably damaging |
1.00 |
R1789:Ubr4
|
UTSW |
4 |
139393053 |
missense |
probably damaging |
1.00 |
R1796:Ubr4
|
UTSW |
4 |
139428596 |
missense |
probably benign |
0.25 |
R1800:Ubr4
|
UTSW |
4 |
139407963 |
missense |
probably damaging |
0.99 |
R1801:Ubr4
|
UTSW |
4 |
139452563 |
splice site |
probably null |
|
R1827:Ubr4
|
UTSW |
4 |
139425697 |
critical splice acceptor site |
probably null |
|
R1887:Ubr4
|
UTSW |
4 |
139455560 |
missense |
probably damaging |
1.00 |
R1966:Ubr4
|
UTSW |
4 |
139451244 |
critical splice acceptor site |
probably null |
|
R2010:Ubr4
|
UTSW |
4 |
139480652 |
missense |
possibly damaging |
0.92 |
R2049:Ubr4
|
UTSW |
4 |
139477207 |
missense |
probably damaging |
0.97 |
R2069:Ubr4
|
UTSW |
4 |
139479540 |
missense |
possibly damaging |
0.66 |
R2114:Ubr4
|
UTSW |
4 |
139429611 |
nonsense |
probably null |
|
R2140:Ubr4
|
UTSW |
4 |
139477207 |
missense |
probably damaging |
0.97 |
R2141:Ubr4
|
UTSW |
4 |
139477207 |
missense |
probably damaging |
0.97 |
R2142:Ubr4
|
UTSW |
4 |
139477207 |
missense |
probably damaging |
0.97 |
R2168:Ubr4
|
UTSW |
4 |
139410649 |
missense |
probably benign |
0.25 |
R2237:Ubr4
|
UTSW |
4 |
139442790 |
missense |
probably damaging |
1.00 |
R2249:Ubr4
|
UTSW |
4 |
139448921 |
missense |
probably damaging |
1.00 |
R2261:Ubr4
|
UTSW |
4 |
139413462 |
missense |
probably damaging |
0.99 |
R2264:Ubr4
|
UTSW |
4 |
139420373 |
splice site |
probably benign |
|
R2353:Ubr4
|
UTSW |
4 |
139433673 |
missense |
possibly damaging |
0.48 |
R2437:Ubr4
|
UTSW |
4 |
139473542 |
missense |
possibly damaging |
0.90 |
R2496:Ubr4
|
UTSW |
4 |
139473205 |
unclassified |
probably benign |
|
R2896:Ubr4
|
UTSW |
4 |
139455644 |
splice site |
probably null |
|
R2922:Ubr4
|
UTSW |
4 |
139479500 |
missense |
possibly damaging |
0.66 |
R2972:Ubr4
|
UTSW |
4 |
139406536 |
missense |
probably benign |
0.22 |
R2973:Ubr4
|
UTSW |
4 |
139406536 |
missense |
probably benign |
0.22 |
R2989:Ubr4
|
UTSW |
4 |
139463558 |
missense |
possibly damaging |
0.89 |
R3176:Ubr4
|
UTSW |
4 |
139421855 |
missense |
probably benign |
0.03 |
R3276:Ubr4
|
UTSW |
4 |
139421855 |
missense |
probably benign |
0.03 |
R3772:Ubr4
|
UTSW |
4 |
139452700 |
missense |
possibly damaging |
0.89 |
R3844:Ubr4
|
UTSW |
4 |
139459126 |
missense |
probably damaging |
0.99 |
R3873:Ubr4
|
UTSW |
4 |
139423990 |
missense |
probably damaging |
1.00 |
R3900:Ubr4
|
UTSW |
4 |
139479062 |
critical splice donor site |
probably null |
|
R3951:Ubr4
|
UTSW |
4 |
139393094 |
missense |
probably damaging |
1.00 |
R4020:Ubr4
|
UTSW |
4 |
139451805 |
missense |
probably damaging |
0.98 |
R4178:Ubr4
|
UTSW |
4 |
139393414 |
missense |
probably damaging |
1.00 |
R4308:Ubr4
|
UTSW |
4 |
139472509 |
missense |
possibly damaging |
0.46 |
R4378:Ubr4
|
UTSW |
4 |
139410440 |
missense |
possibly damaging |
0.76 |
R4400:Ubr4
|
UTSW |
4 |
139461856 |
missense |
possibly damaging |
0.66 |
R4421:Ubr4
|
UTSW |
4 |
139461856 |
missense |
possibly damaging |
0.66 |
R4462:Ubr4
|
UTSW |
4 |
139418502 |
missense |
possibly damaging |
0.47 |
R4583:Ubr4
|
UTSW |
4 |
139380853 |
missense |
possibly damaging |
0.82 |
R4611:Ubr4
|
UTSW |
4 |
139399579 |
missense |
possibly damaging |
0.93 |
R4664:Ubr4
|
UTSW |
4 |
139406518 |
missense |
possibly damaging |
0.56 |
R4671:Ubr4
|
UTSW |
4 |
139436191 |
missense |
possibly damaging |
0.66 |
R4672:Ubr4
|
UTSW |
4 |
139410716 |
missense |
probably damaging |
0.99 |
R4673:Ubr4
|
UTSW |
4 |
139410716 |
missense |
probably damaging |
0.99 |
R4696:Ubr4
|
UTSW |
4 |
139408672 |
missense |
probably benign |
0.09 |
R4701:Ubr4
|
UTSW |
4 |
139471336 |
missense |
possibly damaging |
0.66 |
R4705:Ubr4
|
UTSW |
4 |
139450529 |
missense |
probably damaging |
1.00 |
R4726:Ubr4
|
UTSW |
4 |
139482579 |
missense |
possibly damaging |
0.46 |
R4728:Ubr4
|
UTSW |
4 |
139423879 |
missense |
probably damaging |
1.00 |
R4783:Ubr4
|
UTSW |
4 |
139421733 |
missense |
possibly damaging |
0.85 |
R4833:Ubr4
|
UTSW |
4 |
139402546 |
missense |
probably damaging |
0.98 |
R4892:Ubr4
|
UTSW |
4 |
139428517 |
missense |
probably benign |
0.14 |
R4936:Ubr4
|
UTSW |
4 |
139396566 |
missense |
probably damaging |
0.98 |
R5000:Ubr4
|
UTSW |
4 |
139436169 |
missense |
probably damaging |
0.98 |
R5114:Ubr4
|
UTSW |
4 |
139410623 |
missense |
probably damaging |
0.99 |
R5189:Ubr4
|
UTSW |
4 |
139410649 |
missense |
probably benign |
0.25 |
R5197:Ubr4
|
UTSW |
4 |
139468097 |
missense |
probably damaging |
1.00 |
R5213:Ubr4
|
UTSW |
4 |
139402566 |
nonsense |
probably null |
|
R5219:Ubr4
|
UTSW |
4 |
139477232 |
nonsense |
probably null |
|
R5346:Ubr4
|
UTSW |
4 |
139428491 |
missense |
probably damaging |
0.97 |
R5368:Ubr4
|
UTSW |
4 |
139397528 |
intron |
probably benign |
|
R5442:Ubr4
|
UTSW |
4 |
139407772 |
missense |
probably damaging |
1.00 |
R5527:Ubr4
|
UTSW |
4 |
139480788 |
missense |
possibly damaging |
0.83 |
R5548:Ubr4
|
UTSW |
4 |
139460090 |
missense |
probably damaging |
0.97 |
R5568:Ubr4
|
UTSW |
4 |
139392038 |
missense |
probably damaging |
0.99 |
R5639:Ubr4
|
UTSW |
4 |
139452648 |
missense |
possibly damaging |
0.66 |
R5643:Ubr4
|
UTSW |
4 |
139444687 |
missense |
probably damaging |
1.00 |
R5663:Ubr4
|
UTSW |
4 |
139428583 |
missense |
possibly damaging |
0.95 |
R5755:Ubr4
|
UTSW |
4 |
139460095 |
missense |
possibly damaging |
0.66 |
R5781:Ubr4
|
UTSW |
4 |
139468096 |
missense |
probably damaging |
1.00 |
R5784:Ubr4
|
UTSW |
4 |
139425218 |
missense |
probably damaging |
1.00 |
R5817:Ubr4
|
UTSW |
4 |
139468847 |
missense |
probably damaging |
1.00 |
R5872:Ubr4
|
UTSW |
4 |
139425330 |
missense |
probably damaging |
0.98 |
R5891:Ubr4
|
UTSW |
4 |
139408626 |
nonsense |
probably null |
|
R5901:Ubr4
|
UTSW |
4 |
139451254 |
missense |
probably damaging |
1.00 |
R5958:Ubr4
|
UTSW |
4 |
139455638 |
missense |
probably damaging |
1.00 |
R5974:Ubr4
|
UTSW |
4 |
139421078 |
splice site |
probably null |
|
R6065:Ubr4
|
UTSW |
4 |
139421238 |
missense |
probably damaging |
1.00 |
R6109:Ubr4
|
UTSW |
4 |
139417364 |
missense |
probably damaging |
0.99 |
R6207:Ubr4
|
UTSW |
4 |
139421248 |
missense |
probably damaging |
1.00 |
R6265:Ubr4
|
UTSW |
4 |
139452640 |
missense |
possibly damaging |
0.90 |
R6319:Ubr4
|
UTSW |
4 |
139408889 |
missense |
possibly damaging |
0.84 |
R6342:Ubr4
|
UTSW |
4 |
139429539 |
missense |
possibly damaging |
0.88 |
R6434:Ubr4
|
UTSW |
4 |
139429638 |
missense |
probably damaging |
1.00 |
R6437:Ubr4
|
UTSW |
4 |
139397214 |
critical splice donor site |
probably null |
|
R6481:Ubr4
|
UTSW |
4 |
139431751 |
missense |
probably damaging |
0.97 |
R6502:Ubr4
|
UTSW |
4 |
139444671 |
missense |
probably damaging |
1.00 |
R6546:Ubr4
|
UTSW |
4 |
139414394 |
missense |
probably damaging |
0.99 |
R6603:Ubr4
|
UTSW |
4 |
139455586 |
missense |
probably benign |
0.17 |
R6648:Ubr4
|
UTSW |
4 |
139452719 |
nonsense |
probably null |
|
R6649:Ubr4
|
UTSW |
4 |
139473624 |
missense |
possibly damaging |
0.66 |
R6653:Ubr4
|
UTSW |
4 |
139473624 |
missense |
possibly damaging |
0.66 |
R6668:Ubr4
|
UTSW |
4 |
139465341 |
missense |
probably damaging |
1.00 |
R6770:Ubr4
|
UTSW |
4 |
139489182 |
missense |
unknown |
|
R6772:Ubr4
|
UTSW |
4 |
139467230 |
nonsense |
probably null |
|
R6857:Ubr4
|
UTSW |
4 |
139486051 |
missense |
possibly damaging |
0.90 |
R6869:Ubr4
|
UTSW |
4 |
139467227 |
missense |
possibly damaging |
0.93 |
R6912:Ubr4
|
UTSW |
4 |
139458234 |
critical splice donor site |
probably null |
|
R6943:Ubr4
|
UTSW |
4 |
139437131 |
nonsense |
probably null |
|
R6970:Ubr4
|
UTSW |
4 |
139406528 |
nonsense |
probably null |
|
R6976:Ubr4
|
UTSW |
4 |
139393077 |
missense |
probably damaging |
0.98 |
R7000:Ubr4
|
UTSW |
4 |
139414404 |
missense |
probably damaging |
1.00 |
R7017:Ubr4
|
UTSW |
4 |
139393090 |
missense |
probably damaging |
0.99 |
R7165:Ubr4
|
UTSW |
4 |
139450513 |
missense |
|
|
R7222:Ubr4
|
UTSW |
4 |
139463373 |
missense |
unknown |
|
R7241:Ubr4
|
UTSW |
4 |
139443414 |
missense |
probably damaging |
1.00 |
R7343:Ubr4
|
UTSW |
4 |
139413438 |
missense |
probably benign |
0.09 |
R7367:Ubr4
|
UTSW |
4 |
139452691 |
missense |
unknown |
|
R7393:Ubr4
|
UTSW |
4 |
139426785 |
missense |
probably damaging |
1.00 |
R7432:Ubr4
|
UTSW |
4 |
139388382 |
missense |
probably damaging |
1.00 |
R7448:Ubr4
|
UTSW |
4 |
139462467 |
missense |
unknown |
|
R7502:Ubr4
|
UTSW |
4 |
139412672 |
missense |
possibly damaging |
0.72 |
R7514:Ubr4
|
UTSW |
4 |
139452655 |
missense |
unknown |
|
R7526:Ubr4
|
UTSW |
4 |
139422417 |
missense |
probably benign |
0.00 |
R7529:Ubr4
|
UTSW |
4 |
139422417 |
missense |
probably benign |
0.00 |
R7666:Ubr4
|
UTSW |
4 |
139413480 |
missense |
possibly damaging |
0.81 |
R7699:Ubr4
|
UTSW |
4 |
139408867 |
nonsense |
probably null |
|
R7700:Ubr4
|
UTSW |
4 |
139408867 |
nonsense |
probably null |
|
R7726:Ubr4
|
UTSW |
4 |
139458920 |
missense |
unknown |
|
R7753:Ubr4
|
UTSW |
4 |
139470292 |
missense |
unknown |
|
R7810:Ubr4
|
UTSW |
4 |
139415083 |
missense |
|
|
R7837:Ubr4
|
UTSW |
4 |
139393151 |
nonsense |
probably null |
|
R7868:Ubr4
|
UTSW |
4 |
139460033 |
missense |
unknown |
|
R7872:Ubr4
|
UTSW |
4 |
139393062 |
missense |
possibly damaging |
0.94 |
R7887:Ubr4
|
UTSW |
4 |
139407810 |
missense |
probably damaging |
0.99 |
R7924:Ubr4
|
UTSW |
4 |
139467276 |
missense |
unknown |
|
R7980:Ubr4
|
UTSW |
4 |
139418406 |
missense |
|
|
R7982:Ubr4
|
UTSW |
4 |
139428208 |
critical splice donor site |
probably null |
|
R8005:Ubr4
|
UTSW |
4 |
139412630 |
missense |
probably damaging |
0.98 |
R8054:Ubr4
|
UTSW |
4 |
139468102 |
missense |
unknown |
|
R8094:Ubr4
|
UTSW |
4 |
139440696 |
missense |
probably damaging |
0.97 |
R8151:Ubr4
|
UTSW |
4 |
139402801 |
missense |
probably damaging |
0.97 |
R8183:Ubr4
|
UTSW |
4 |
139482471 |
missense |
unknown |
|
R8252:Ubr4
|
UTSW |
4 |
139473217 |
missense |
unknown |
|
R8505:Ubr4
|
UTSW |
4 |
139429569 |
missense |
|
|
R8519:Ubr4
|
UTSW |
4 |
139416647 |
missense |
probably damaging |
0.97 |
R8716:Ubr4
|
UTSW |
4 |
139468853 |
missense |
unknown |
|
R8720:Ubr4
|
UTSW |
4 |
139480838 |
critical splice donor site |
probably null |
|
R8749:Ubr4
|
UTSW |
4 |
139402624 |
missense |
probably damaging |
0.98 |
R8768:Ubr4
|
UTSW |
4 |
139421765 |
missense |
|
|
R8789:Ubr4
|
UTSW |
4 |
139410183 |
missense |
possibly damaging |
0.76 |
R8879:Ubr4
|
UTSW |
4 |
139410518 |
missense |
probably benign |
0.06 |
R8937:Ubr4
|
UTSW |
4 |
139463575 |
missense |
probably damaging |
0.97 |
R9006:Ubr4
|
UTSW |
4 |
139444692 |
critical splice donor site |
probably null |
|
R9116:Ubr4
|
UTSW |
4 |
139418474 |
missense |
|
|
R9134:Ubr4
|
UTSW |
4 |
139400444 |
critical splice donor site |
probably null |
|
R9251:Ubr4
|
UTSW |
4 |
139450325 |
missense |
|
|
R9340:Ubr4
|
UTSW |
4 |
139455452 |
missense |
unknown |
|
R9384:Ubr4
|
UTSW |
4 |
139467320 |
missense |
unknown |
|
R9389:Ubr4
|
UTSW |
4 |
139425924 |
missense |
|
|
R9393:Ubr4
|
UTSW |
4 |
139485302 |
missense |
unknown |
|
R9531:Ubr4
|
UTSW |
4 |
139407906 |
missense |
probably benign |
0.00 |
R9573:Ubr4
|
UTSW |
4 |
139421139 |
missense |
|
|
R9604:Ubr4
|
UTSW |
4 |
139432516 |
critical splice donor site |
probably null |
|
R9613:Ubr4
|
UTSW |
4 |
139421762 |
missense |
|
|
R9623:Ubr4
|
UTSW |
4 |
139431713 |
missense |
probably benign |
0.00 |
R9651:Ubr4
|
UTSW |
4 |
139479548 |
missense |
unknown |
|
R9685:Ubr4
|
UTSW |
4 |
139464030 |
missense |
unknown |
|
R9698:Ubr4
|
UTSW |
4 |
139440664 |
missense |
|
|
R9700:Ubr4
|
UTSW |
4 |
139392077 |
missense |
probably damaging |
0.97 |
R9727:Ubr4
|
UTSW |
4 |
139413424 |
missense |
probably damaging |
0.98 |
R9766:Ubr4
|
UTSW |
4 |
139467284 |
missense |
unknown |
|
T0975:Ubr4
|
UTSW |
4 |
139451781 |
missense |
probably damaging |
1.00 |
X0028:Ubr4
|
UTSW |
4 |
139410271 |
critical splice donor site |
probably null |
|
Z1176:Ubr4
|
UTSW |
4 |
139400385 |
missense |
probably damaging |
1.00 |
Z1176:Ubr4
|
UTSW |
4 |
139402660 |
missense |
probably benign |
0.04 |
Z1176:Ubr4
|
UTSW |
4 |
139410145 |
missense |
probably damaging |
1.00 |
Z1177:Ubr4
|
UTSW |
4 |
139450481 |
missense |
|
|
Z1186:Ubr4
|
UTSW |
4 |
139410653 |
missense |
probably benign |
0.02 |
|
Posted On |
2013-06-21 |