Incidental Mutation 'R0690:Ubr2'
| ID |
61371 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ubr2
|
| Ensembl Gene |
ENSMUSG00000023977 |
| Gene Name |
ubiquitin protein ligase E3 component n-recognin 2 |
| Synonyms |
ENSMUSG00000043296, E130209G04Rik, 9930021A08Rik |
| MMRRC Submission |
038875-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.891)
|
| Stock # |
R0690 (G1)
|
| Quality Score |
81 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
47239221-47321482 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 47249579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 1591
(I1591K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113335]
[ENSMUST00000113337]
|
| AlphaFold |
Q6WKZ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113335
AA Change: I1591K
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108961
Gene: ENSMUSG00000023977
AA Change: I1591K
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_UBR1
|
97 |
167 |
3.14e-32 |
SMART |
|
Pfam:ClpS
|
221 |
302 |
2.4e-23 |
PFAM |
|
low complexity region
|
635 |
646 |
N/A |
INTRINSIC |
|
low complexity region
|
749 |
760 |
N/A |
INTRINSIC |
|
low complexity region
|
872 |
886 |
N/A |
INTRINSIC |
|
coiled coil region
|
1019 |
1046 |
N/A |
INTRINSIC |
|
RING
|
1108 |
1213 |
7.66e-1 |
SMART |
|
low complexity region
|
1221 |
1235 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113337
AA Change: I1591K
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108963
Gene: ENSMUSG00000023977
AA Change: I1591K
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_UBR1
|
97 |
167 |
3.14e-32 |
SMART |
|
Pfam:ClpS
|
222 |
301 |
6.2e-26 |
PFAM |
|
low complexity region
|
635 |
646 |
N/A |
INTRINSIC |
|
low complexity region
|
749 |
760 |
N/A |
INTRINSIC |
|
low complexity region
|
872 |
886 |
N/A |
INTRINSIC |
|
coiled coil region
|
1019 |
1046 |
N/A |
INTRINSIC |
|
RING
|
1108 |
1213 |
7.66e-1 |
SMART |
|
low complexity region
|
1221 |
1235 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223860
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224759
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225712
|
| Meta Mutation Damage Score |
0.2637 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
97% (87/90) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an E3 ubiquitin ligase of the N-end rule proteolytic pathway that targets proteins with destabilizing N-terminal residues for polyubiquitylation and proteasome-mediated degradation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PHENOTYPE: On a mixed genetic background, female homozygotes for a targeted null mutation exhibit embryonic lethality, while males are viable, but sterile due to postnatal testicular degeneration. On an inbred background, both genders die in utero. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,860,634 (GRCm39) |
|
probably benign |
Het |
| Abi3 |
T |
C |
11: 95,724,460 (GRCm39) |
|
probably benign |
Het |
| Adam2 |
T |
C |
14: 66,295,095 (GRCm39) |
N250S |
probably damaging |
Het |
| Agbl4 |
T |
A |
4: 111,514,585 (GRCm39) |
I532K |
probably benign |
Het |
| Agrn |
T |
G |
4: 156,258,910 (GRCm39) |
E905A |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,846,742 (GRCm39) |
|
probably benign |
Het |
| Aifm2 |
A |
G |
10: 61,562,231 (GRCm39) |
N89S |
probably benign |
Het |
| Arsj |
C |
T |
3: 126,231,833 (GRCm39) |
T193I |
probably damaging |
Het |
| Ascc2 |
T |
A |
11: 4,632,933 (GRCm39) |
V702E |
probably damaging |
Het |
| Avpr1b |
T |
C |
1: 131,528,019 (GRCm39) |
S181P |
probably damaging |
Het |
| Bcl7a |
G |
A |
5: 123,490,003 (GRCm39) |
V56I |
possibly damaging |
Het |
| Cd160 |
T |
A |
3: 96,713,102 (GRCm39) |
D54V |
probably damaging |
Het |
| Celsr2 |
C |
A |
3: 108,322,293 (GRCm39) |
R173M |
probably damaging |
Het |
| Cfap57 |
A |
G |
4: 118,426,924 (GRCm39) |
|
probably benign |
Het |
| Cfap69 |
G |
A |
5: 5,713,951 (GRCm39) |
T27I |
probably damaging |
Het |
| Chaf1b |
T |
C |
16: 93,696,905 (GRCm39) |
|
probably benign |
Het |
| Cldn8 |
C |
T |
16: 88,359,527 (GRCm39) |
V133M |
probably damaging |
Het |
| Col2a1 |
A |
T |
15: 97,878,073 (GRCm39) |
V954E |
unknown |
Het |
| Col6a4 |
T |
C |
9: 105,905,386 (GRCm39) |
|
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,586,685 (GRCm39) |
M1779V |
probably benign |
Het |
| Coq8b |
A |
G |
7: 26,941,674 (GRCm39) |
E253G |
probably benign |
Het |
| Ctse |
T |
C |
1: 131,602,516 (GRCm39) |
|
probably benign |
Het |
| Cyp2c29 |
T |
A |
19: 39,298,170 (GRCm39) |
N238K |
probably benign |
Het |
| Dcaf1 |
T |
A |
9: 106,723,848 (GRCm39) |
|
probably benign |
Het |
| Dcc |
A |
T |
18: 71,942,275 (GRCm39) |
|
probably benign |
Het |
| Dkk1 |
A |
G |
19: 30,526,745 (GRCm39) |
F12S |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,106,457 (GRCm39) |
V1760A |
probably benign |
Het |
| Fam117b |
G |
A |
1: 59,997,512 (GRCm39) |
S288N |
possibly damaging |
Het |
| Fam216a |
A |
T |
5: 122,505,709 (GRCm39) |
M110K |
probably damaging |
Het |
| Frem3 |
T |
A |
8: 81,340,581 (GRCm39) |
I958N |
possibly damaging |
Het |
| Gab1 |
T |
A |
8: 81,526,745 (GRCm39) |
N118Y |
probably damaging |
Het |
| Gda |
T |
A |
19: 21,387,251 (GRCm39) |
I251L |
probably benign |
Het |
| Gli2 |
C |
A |
1: 118,772,190 (GRCm39) |
R505L |
probably damaging |
Het |
| Gm5093 |
A |
T |
17: 46,750,664 (GRCm39) |
I121N |
possibly damaging |
Het |
| Gpnmb |
C |
T |
6: 49,024,949 (GRCm39) |
S327L |
probably benign |
Het |
| Gpr156 |
T |
A |
16: 37,812,503 (GRCm39) |
Y280N |
probably damaging |
Het |
| Gria4 |
A |
G |
9: 4,427,071 (GRCm39) |
Y790H |
probably damaging |
Het |
| Guf1 |
C |
A |
5: 69,723,695 (GRCm39) |
|
probably null |
Het |
| H6pd |
T |
C |
4: 150,067,030 (GRCm39) |
E452G |
possibly damaging |
Het |
| Herc1 |
T |
A |
9: 66,294,120 (GRCm39) |
Y487* |
probably null |
Het |
| Ifi30 |
T |
A |
8: 71,217,593 (GRCm39) |
|
probably benign |
Het |
| Klf13 |
G |
A |
7: 63,587,819 (GRCm39) |
A159V |
possibly damaging |
Het |
| Med11 |
T |
A |
11: 70,344,052 (GRCm39) |
M124K |
possibly damaging |
Het |
| Myom3 |
A |
G |
4: 135,515,737 (GRCm39) |
|
probably benign |
Het |
| Nat2 |
A |
T |
8: 67,954,456 (GRCm39) |
I189F |
probably damaging |
Het |
| Nhlrc4 |
C |
G |
17: 26,162,658 (GRCm39) |
G30R |
probably damaging |
Het |
| Nkx3-2 |
G |
A |
5: 41,919,470 (GRCm39) |
R173C |
probably damaging |
Het |
| Nox3 |
T |
C |
17: 3,745,839 (GRCm39) |
N23S |
probably damaging |
Het |
| Npr2 |
A |
T |
4: 43,646,991 (GRCm39) |
Y708F |
probably damaging |
Het |
| Nsun2 |
A |
G |
13: 69,777,661 (GRCm39) |
N409S |
probably benign |
Het |
| Nucb2 |
T |
C |
7: 116,135,086 (GRCm39) |
|
probably benign |
Het |
| Or13a26 |
T |
C |
7: 140,284,700 (GRCm39) |
F179L |
possibly damaging |
Het |
| Or5be3 |
A |
G |
2: 86,864,226 (GRCm39) |
F113S |
probably damaging |
Het |
| Or8b12 |
T |
C |
9: 37,657,513 (GRCm39) |
F28L |
probably benign |
Het |
| Orai2 |
A |
T |
5: 136,190,453 (GRCm39) |
V52D |
probably damaging |
Het |
| Pcyox1 |
A |
T |
6: 86,371,424 (GRCm39) |
M154K |
probably damaging |
Het |
| Pik3r4 |
C |
A |
9: 105,531,175 (GRCm39) |
T492K |
possibly damaging |
Het |
| Pmpca |
T |
A |
2: 26,281,109 (GRCm39) |
Y150N |
probably damaging |
Het |
| Ppp1r12b |
G |
T |
1: 134,803,820 (GRCm39) |
S446R |
probably damaging |
Het |
| Ptpdc1 |
A |
G |
13: 48,740,381 (GRCm39) |
I289T |
probably benign |
Het |
| Pyroxd2 |
A |
G |
19: 42,716,081 (GRCm39) |
|
probably benign |
Het |
| Qrfpr |
G |
A |
3: 36,243,708 (GRCm39) |
T131M |
probably damaging |
Het |
| Rab33b |
A |
G |
3: 51,400,838 (GRCm39) |
Y104C |
probably damaging |
Het |
| Rad54l |
G |
T |
4: 115,956,947 (GRCm39) |
|
probably benign |
Het |
| Rad9a |
A |
T |
19: 4,247,359 (GRCm39) |
|
probably null |
Het |
| Slc1a5 |
A |
T |
7: 16,520,829 (GRCm39) |
M233L |
probably benign |
Het |
| Slc47a2 |
C |
T |
11: 61,233,330 (GRCm39) |
V67I |
possibly damaging |
Het |
| Slco1a5 |
T |
A |
6: 142,214,004 (GRCm39) |
Y39F |
probably benign |
Het |
| Slfn5 |
T |
C |
11: 82,852,229 (GRCm39) |
V785A |
probably damaging |
Het |
| Sp6 |
C |
T |
11: 96,912,370 (GRCm39) |
P28S |
possibly damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,893,156 (GRCm39) |
|
probably null |
Het |
| Sry |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
Y: 2,662,944 (GRCm39) |
|
probably benign |
Het |
| St8sia1 |
A |
G |
6: 142,774,980 (GRCm39) |
W200R |
probably damaging |
Het |
| Stxbp1 |
C |
A |
2: 32,690,707 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
A |
G |
10: 4,983,138 (GRCm39) |
|
probably benign |
Het |
| Thbs3 |
T |
A |
3: 89,127,472 (GRCm39) |
I371N |
possibly damaging |
Het |
| Tll1 |
C |
T |
8: 64,527,324 (GRCm39) |
S399N |
probably damaging |
Het |
| Tmem209 |
A |
C |
6: 30,505,833 (GRCm39) |
C114G |
probably null |
Het |
| Tmem25 |
C |
T |
9: 44,706,811 (GRCm39) |
|
probably benign |
Het |
| Tmem8b |
T |
C |
4: 43,674,562 (GRCm39) |
I282T |
possibly damaging |
Het |
| Trdmt1 |
T |
A |
2: 13,549,391 (GRCm39) |
H18L |
probably benign |
Het |
| Trim63 |
A |
G |
4: 134,043,716 (GRCm39) |
T60A |
probably benign |
Het |
| Trpv2 |
T |
C |
11: 62,475,502 (GRCm39) |
|
probably null |
Het |
| Use1 |
A |
T |
8: 71,819,709 (GRCm39) |
|
probably benign |
Het |
| Zfp850 |
A |
T |
7: 27,684,642 (GRCm39) |
C35S |
possibly damaging |
Het |
|
| Other mutations in Ubr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00324:Ubr2
|
APN |
17 |
47,296,986 (GRCm39) |
splice site |
probably benign |
|
|
IGL00332:Ubr2
|
APN |
17 |
47,301,916 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00518:Ubr2
|
APN |
17 |
47,303,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00693:Ubr2
|
APN |
17 |
47,283,907 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00785:Ubr2
|
APN |
17 |
47,255,791 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01144:Ubr2
|
APN |
17 |
47,268,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01459:Ubr2
|
APN |
17 |
47,241,435 (GRCm39) |
splice site |
probably benign |
|
|
IGL01637:Ubr2
|
APN |
17 |
47,267,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01710:Ubr2
|
APN |
17 |
47,254,335 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01726:Ubr2
|
APN |
17 |
47,303,907 (GRCm39) |
splice site |
probably benign |
|
|
IGL01925:Ubr2
|
APN |
17 |
47,265,875 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01960:Ubr2
|
APN |
17 |
47,284,893 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02170:Ubr2
|
APN |
17 |
47,278,123 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02308:Ubr2
|
APN |
17 |
47,245,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02387:Ubr2
|
APN |
17 |
47,274,076 (GRCm39) |
missense |
probably benign |
|
|
IGL02696:Ubr2
|
APN |
17 |
47,274,691 (GRCm39) |
missense |
probably benign |
|
|
IGL02726:Ubr2
|
APN |
17 |
47,283,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02750:Ubr2
|
APN |
17 |
47,280,208 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02934:Ubr2
|
APN |
17 |
47,268,266 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02959:Ubr2
|
APN |
17 |
47,286,877 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03018:Ubr2
|
APN |
17 |
47,264,972 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL03343:Ubr2
|
APN |
17 |
47,262,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4280001:Ubr2
|
UTSW |
17 |
47,255,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0044:Ubr2
|
UTSW |
17 |
47,303,911 (GRCm39) |
splice site |
probably benign |
|
|
R0044:Ubr2
|
UTSW |
17 |
47,303,911 (GRCm39) |
splice site |
probably benign |
|
|
R0446:Ubr2
|
UTSW |
17 |
47,294,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0513:Ubr2
|
UTSW |
17 |
47,297,705 (GRCm39) |
nonsense |
probably null |
|
|
R0565:Ubr2
|
UTSW |
17 |
47,266,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0600:Ubr2
|
UTSW |
17 |
47,278,174 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0710:Ubr2
|
UTSW |
17 |
47,249,607 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0761:Ubr2
|
UTSW |
17 |
47,294,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0798:Ubr2
|
UTSW |
17 |
47,280,102 (GRCm39) |
splice site |
probably benign |
|
|
R0862:Ubr2
|
UTSW |
17 |
47,278,009 (GRCm39) |
nonsense |
probably null |
|
|
R0947:Ubr2
|
UTSW |
17 |
47,252,038 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0972:Ubr2
|
UTSW |
17 |
47,245,187 (GRCm39) |
splice site |
probably null |
|
|
R1500:Ubr2
|
UTSW |
17 |
47,297,615 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1514:Ubr2
|
UTSW |
17 |
47,311,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1533:Ubr2
|
UTSW |
17 |
47,278,173 (GRCm39) |
nonsense |
probably null |
|
|
R1554:Ubr2
|
UTSW |
17 |
47,283,877 (GRCm39) |
missense |
probably benign |
|
|
R1575:Ubr2
|
UTSW |
17 |
47,243,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1602:Ubr2
|
UTSW |
17 |
47,251,987 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1941:Ubr2
|
UTSW |
17 |
47,284,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1966:Ubr2
|
UTSW |
17 |
47,265,845 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2041:Ubr2
|
UTSW |
17 |
47,296,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2067:Ubr2
|
UTSW |
17 |
47,274,071 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2111:Ubr2
|
UTSW |
17 |
47,274,071 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2189:Ubr2
|
UTSW |
17 |
47,254,290 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2219:Ubr2
|
UTSW |
17 |
47,296,968 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2307:Ubr2
|
UTSW |
17 |
47,277,141 (GRCm39) |
nonsense |
probably null |
|
|
R3426:Ubr2
|
UTSW |
17 |
47,279,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3428:Ubr2
|
UTSW |
17 |
47,279,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3608:Ubr2
|
UTSW |
17 |
47,255,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4080:Ubr2
|
UTSW |
17 |
47,299,648 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4330:Ubr2
|
UTSW |
17 |
47,278,204 (GRCm39) |
missense |
probably null |
1.00 |
|
R4383:Ubr2
|
UTSW |
17 |
47,250,313 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4460:Ubr2
|
UTSW |
17 |
47,255,971 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4794:Ubr2
|
UTSW |
17 |
47,241,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4902:Ubr2
|
UTSW |
17 |
47,296,922 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4913:Ubr2
|
UTSW |
17 |
47,270,385 (GRCm39) |
splice site |
probably null |
|
|
R5092:Ubr2
|
UTSW |
17 |
47,280,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5209:Ubr2
|
UTSW |
17 |
47,279,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5226:Ubr2
|
UTSW |
17 |
47,294,196 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5250:Ubr2
|
UTSW |
17 |
47,241,368 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5437:Ubr2
|
UTSW |
17 |
47,274,623 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5607:Ubr2
|
UTSW |
17 |
47,245,126 (GRCm39) |
nonsense |
probably null |
|
|
R5848:Ubr2
|
UTSW |
17 |
47,267,581 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6089:Ubr2
|
UTSW |
17 |
47,293,218 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6382:Ubr2
|
UTSW |
17 |
47,268,241 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6552:Ubr2
|
UTSW |
17 |
47,277,194 (GRCm39) |
splice site |
probably null |
|
|
R6630:Ubr2
|
UTSW |
17 |
47,262,910 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6892:Ubr2
|
UTSW |
17 |
47,245,034 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6936:Ubr2
|
UTSW |
17 |
47,283,957 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7039:Ubr2
|
UTSW |
17 |
47,321,139 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7050:Ubr2
|
UTSW |
17 |
47,272,528 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7078:Ubr2
|
UTSW |
17 |
47,266,779 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7126:Ubr2
|
UTSW |
17 |
47,284,982 (GRCm39) |
splice site |
probably null |
|
|
R7219:Ubr2
|
UTSW |
17 |
47,246,360 (GRCm39) |
nonsense |
probably null |
|
|
R7262:Ubr2
|
UTSW |
17 |
47,311,665 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7352:Ubr2
|
UTSW |
17 |
47,241,352 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7366:Ubr2
|
UTSW |
17 |
47,266,771 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7449:Ubr2
|
UTSW |
17 |
47,275,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7496:Ubr2
|
UTSW |
17 |
47,301,917 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7759:Ubr2
|
UTSW |
17 |
47,296,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7869:Ubr2
|
UTSW |
17 |
47,301,934 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7916:Ubr2
|
UTSW |
17 |
47,279,308 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8236:Ubr2
|
UTSW |
17 |
47,262,835 (GRCm39) |
missense |
probably benign |
|
|
R8376:Ubr2
|
UTSW |
17 |
47,253,721 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9026:Ubr2
|
UTSW |
17 |
47,245,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9216:Ubr2
|
UTSW |
17 |
47,292,285 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9339:Ubr2
|
UTSW |
17 |
47,284,865 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9558:Ubr2
|
UTSW |
17 |
47,262,843 (GRCm39) |
missense |
probably benign |
|
|
R9606:Ubr2
|
UTSW |
17 |
47,245,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9644:Ubr2
|
UTSW |
17 |
47,266,706 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9731:Ubr2
|
UTSW |
17 |
47,274,071 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0027:Ubr2
|
UTSW |
17 |
47,311,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0061:Ubr2
|
UTSW |
17 |
47,281,037 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Z1177:Ubr2
|
UTSW |
17 |
47,311,692 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
Z1177:Ubr2
|
UTSW |
17 |
47,270,435 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Ubr2
|
UTSW |
17 |
47,321,069 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGAAGCTCATTATACCGTGCCTG -3'
(R):5'- AGGGTAAGATTGCTGCCAACCCAG -3'
Sequencing Primer
(F):5'- CATTATACCGTGCCTGATATTTGG -3'
(R):5'- acaactaaagatggtggcgg -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation