Incidental Mutation 'R2111:Ubr2'
| ID |
232602 |
| 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 |
040115-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.891)
|
| Stock # |
R2111 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
47239221-47321482 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 47274071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113335]
[ENSMUST00000113337]
[ENSMUST00000225599]
|
| AlphaFold |
Q6WKZ8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000113335
|
| SMART Domains |
Protein: ENSMUSP00000108961
Gene: ENSMUSG00000023977
| 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 null
Transcript: ENSMUST00000113337
|
| SMART Domains |
Protein: ENSMUSP00000108963
Gene: ENSMUSG00000023977
| 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: ENSMUST00000224759
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225599
|
| Meta Mutation Damage Score |
0.9493 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (86/86) |
| 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: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330161L09Rik |
T |
C |
12: 103,373,848 (GRCm39) |
|
probably benign |
Het |
| Abca2 |
A |
T |
2: 25,327,517 (GRCm39) |
I669F |
possibly damaging |
Het |
| Adam9 |
C |
T |
8: 25,472,142 (GRCm39) |
|
probably benign |
Het |
| Adprhl1 |
A |
G |
8: 13,298,694 (GRCm39) |
Y79H |
probably damaging |
Het |
| Akp3 |
A |
T |
1: 87,054,607 (GRCm39) |
|
probably null |
Het |
| Alpk2 |
T |
C |
18: 65,482,845 (GRCm39) |
S388G |
probably benign |
Het |
| Amph |
G |
A |
13: 19,300,436 (GRCm39) |
|
probably benign |
Het |
| Arr3 |
T |
A |
X: 99,658,247 (GRCm39) |
F269L |
possibly damaging |
Het |
| Atp2a2 |
A |
G |
5: 122,597,609 (GRCm39) |
F808S |
probably damaging |
Het |
| Baz1a |
T |
A |
12: 54,958,170 (GRCm39) |
N1027I |
probably damaging |
Het |
| C2cd4c |
G |
T |
10: 79,448,255 (GRCm39) |
H297Q |
probably damaging |
Het |
| Calr3 |
T |
A |
8: 73,181,112 (GRCm39) |
D160V |
probably damaging |
Het |
| Cdc42ep1 |
C |
T |
15: 78,731,692 (GRCm39) |
R46C |
probably damaging |
Het |
| Cdh23 |
G |
T |
10: 60,141,362 (GRCm39) |
F3127L |
probably damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,702,417 (GRCm39) |
|
probably benign |
Het |
| Cps1 |
T |
A |
1: 67,216,139 (GRCm39) |
D821E |
probably benign |
Het |
| Cyp2e1 |
C |
A |
7: 140,353,547 (GRCm39) |
T328K |
probably damaging |
Het |
| Dcp1a |
T |
C |
14: 30,241,327 (GRCm39) |
V379A |
probably benign |
Het |
| Dst |
T |
C |
1: 34,208,259 (GRCm39) |
S737P |
probably damaging |
Het |
| Dtx2 |
C |
T |
5: 136,059,431 (GRCm39) |
S493F |
probably damaging |
Het |
| Eci2 |
A |
G |
13: 35,174,699 (GRCm39) |
|
probably null |
Het |
| Ercc6l2 |
A |
G |
13: 63,982,563 (GRCm39) |
T126A |
probably damaging |
Het |
| Fgf6 |
T |
C |
6: 126,992,723 (GRCm39) |
S59P |
probably damaging |
Het |
| Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
| Gapvd1 |
G |
T |
2: 34,574,329 (GRCm39) |
A1256D |
probably benign |
Het |
| Gcfc2 |
C |
A |
6: 81,900,759 (GRCm39) |
D24E |
probably benign |
Het |
| Gigyf2 |
A |
G |
1: 87,368,452 (GRCm39) |
H1044R |
probably damaging |
Het |
| Gk2 |
T |
C |
5: 97,604,164 (GRCm39) |
I225V |
probably benign |
Het |
| Gm3944 |
C |
A |
12: 18,903,895 (GRCm39) |
S8* |
probably null |
Het |
| Gnl3l |
A |
G |
X: 149,780,290 (GRCm39) |
S217P |
probably damaging |
Het |
| Gpr156 |
A |
G |
16: 37,799,113 (GRCm39) |
D109G |
probably benign |
Het |
| Hoxd1 |
A |
T |
2: 74,593,710 (GRCm39) |
T89S |
probably benign |
Het |
| Ift172 |
G |
A |
5: 31,443,423 (GRCm39) |
T112M |
probably benign |
Het |
| Igkv1-115 |
C |
A |
6: 68,138,613 (GRCm39) |
S72* |
probably null |
Het |
| Ildr1 |
A |
G |
16: 36,542,341 (GRCm39) |
E247G |
probably damaging |
Het |
| Insr |
A |
G |
8: 3,219,748 (GRCm39) |
S925P |
probably benign |
Het |
| Itpr1 |
T |
G |
6: 108,355,270 (GRCm39) |
|
probably benign |
Het |
| Khdrbs3 |
C |
T |
15: 68,896,673 (GRCm39) |
T111I |
probably benign |
Het |
| Mageb3 |
A |
G |
2: 121,785,306 (GRCm39) |
|
probably null |
Het |
| Mcf2l |
A |
T |
8: 13,051,867 (GRCm39) |
K433N |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,700,409 (GRCm39) |
E1456G |
probably damaging |
Het |
| Mta1 |
C |
T |
12: 113,095,248 (GRCm39) |
T467I |
probably damaging |
Het |
| Mtr |
A |
T |
13: 12,259,487 (GRCm39) |
I196N |
possibly damaging |
Het |
| Mtus1 |
G |
T |
8: 41,475,608 (GRCm39) |
P819T |
probably damaging |
Het |
| Myh1 |
G |
A |
11: 67,105,446 (GRCm39) |
D1079N |
possibly damaging |
Het |
| Nav1 |
C |
T |
1: 135,376,742 (GRCm39) |
R1694Q |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,174,275 (GRCm39) |
I1528T |
probably benign |
Het |
| Nek1 |
T |
A |
8: 61,577,360 (GRCm39) |
|
probably null |
Het |
| Nes |
A |
G |
3: 87,884,618 (GRCm39) |
E915G |
probably benign |
Het |
| Nlrp4f |
T |
C |
13: 65,347,167 (GRCm39) |
I30M |
probably benign |
Het |
| Nup153 |
A |
G |
13: 46,837,404 (GRCm39) |
S1273P |
probably benign |
Het |
| Nup155 |
A |
G |
15: 8,150,951 (GRCm39) |
I334V |
probably benign |
Het |
| Or10j2 |
A |
T |
1: 173,097,879 (GRCm39) |
M46L |
probably benign |
Het |
| Or1e1f |
A |
G |
11: 73,855,740 (GRCm39) |
Y102C |
probably damaging |
Het |
| Or5b3 |
G |
A |
19: 13,388,307 (GRCm39) |
A125T |
probably damaging |
Het |
| Or5d41 |
A |
G |
2: 88,054,818 (GRCm39) |
V186A |
possibly damaging |
Het |
| Or6d13 |
T |
C |
6: 116,517,611 (GRCm39) |
Y66H |
possibly damaging |
Het |
| Or8b46 |
T |
A |
9: 38,450,576 (GRCm39) |
N128K |
probably benign |
Het |
| Or8k38 |
G |
T |
2: 86,488,781 (GRCm39) |
T7K |
probably damaging |
Het |
| Parn |
G |
A |
16: 13,420,933 (GRCm39) |
S473L |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,256,360 (GRCm39) |
K627E |
probably damaging |
Het |
| Pja2 |
T |
A |
17: 64,597,031 (GRCm39) |
D553V |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 17,185,602 (GRCm39) |
F3004L |
probably damaging |
Het |
| Rasgrp3 |
T |
C |
17: 75,807,753 (GRCm39) |
|
probably null |
Het |
| Rdh13 |
A |
G |
7: 4,448,482 (GRCm39) |
V10A |
probably benign |
Het |
| Rimbp2 |
T |
C |
5: 128,850,565 (GRCm39) |
Y906C |
probably damaging |
Het |
| Ripor1 |
T |
C |
8: 106,341,344 (GRCm39) |
F59S |
probably damaging |
Het |
| Rnf185 |
T |
C |
11: 3,382,393 (GRCm39) |
|
probably benign |
Het |
| Runx3 |
T |
C |
4: 134,882,627 (GRCm39) |
V107A |
probably damaging |
Het |
| Scn3b |
T |
C |
9: 40,193,741 (GRCm39) |
V156A |
probably benign |
Het |
| Serpina3a |
G |
A |
12: 104,082,481 (GRCm39) |
A85T |
probably damaging |
Het |
| Slc12a7 |
C |
T |
13: 73,933,274 (GRCm39) |
R111* |
probably null |
Het |
| Slc5a5 |
A |
T |
8: 71,342,395 (GRCm39) |
|
probably null |
Het |
| Snx13 |
A |
T |
12: 35,188,084 (GRCm39) |
L787F |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,589,659 (GRCm39) |
M1535K |
probably damaging |
Het |
| Sphkap |
T |
G |
1: 83,253,602 (GRCm39) |
K1382N |
probably benign |
Het |
| Tagap1 |
A |
G |
17: 7,224,259 (GRCm39) |
S146P |
probably benign |
Het |
| Tagln3 |
A |
G |
16: 45,531,957 (GRCm39) |
Y192H |
probably damaging |
Het |
| Tbc1d15 |
A |
C |
10: 115,076,819 (GRCm39) |
S22A |
possibly damaging |
Het |
| Tbc1d31 |
A |
G |
15: 57,796,040 (GRCm39) |
E211G |
probably benign |
Het |
| Tmod3 |
A |
G |
9: 75,416,645 (GRCm39) |
V229A |
probably damaging |
Het |
| Ugt2b36 |
T |
C |
5: 87,240,100 (GRCm39) |
E95G |
probably benign |
Het |
| Unc45b |
G |
A |
11: 82,802,515 (GRCm39) |
A4T |
probably benign |
Het |
| Usp40 |
A |
G |
1: 87,877,936 (GRCm39) |
I1117T |
probably benign |
Het |
| Vcan |
T |
A |
13: 89,841,422 (GRCm39) |
D414V |
probably damaging |
Het |
| Xrn1 |
C |
A |
9: 95,921,885 (GRCm39) |
H1433N |
probably benign |
Het |
| Zfp353-ps |
T |
A |
8: 42,536,005 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp74 |
G |
A |
7: 29,634,443 (GRCm39) |
Q422* |
probably null |
Het |
| Zmym3 |
A |
T |
X: 100,450,993 (GRCm39) |
V1208D |
probably 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 |
|
R0690:Ubr2
|
UTSW |
17 |
47,249,579 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
|
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'- TCTGTGGAGGAAACAACCG -3'
(R):5'- CACACATTCAGCTTTGGACTGG -3'
Sequencing Primer
(F):5'- ACCGTTTCCAATGTGCAGAC -3'
(R):5'- TGCAGTGAGCCTTCATGCAG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation