Incidental Mutation 'IGL02386:Rnf103'
ID |
291568 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rnf103
|
Ensembl Gene |
ENSMUSG00000052656 |
Gene Name |
ring finger protein 103 |
Synonyms |
Zfp103, kf-1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.215)
|
Stock # |
IGL02386
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
71470878-71487865 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 71486202 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 278
(T278A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109817
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064637]
[ENSMUST00000114178]
[ENSMUST00000114179]
|
AlphaFold |
Q9R1W3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064637
AA Change: T278A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000066324 Gene: ENSMUSG00000052656 AA Change: T278A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
transmembrane domain
|
326 |
348 |
N/A |
INTRINSIC |
transmembrane domain
|
353 |
375 |
N/A |
INTRINSIC |
transmembrane domain
|
412 |
431 |
N/A |
INTRINSIC |
low complexity region
|
523 |
531 |
N/A |
INTRINSIC |
RING
|
619 |
660 |
5.07e-6 |
SMART |
low complexity region
|
665 |
676 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114178
|
SMART Domains |
Protein: ENSMUSP00000109816 Gene: ENSMUSG00000052656
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
low complexity region
|
162 |
173 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114179
AA Change: T278A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000109817 Gene: ENSMUSG00000052656 AA Change: T278A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
transmembrane domain
|
326 |
348 |
N/A |
INTRINSIC |
transmembrane domain
|
353 |
375 |
N/A |
INTRINSIC |
transmembrane domain
|
412 |
431 |
N/A |
INTRINSIC |
low complexity region
|
523 |
531 |
N/A |
INTRINSIC |
RING
|
619 |
660 |
5.07e-6 |
SMART |
low complexity region
|
665 |
676 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150069
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the RING finger family of E3 ubiquitin-protein ligases. These proteins catalyze the transfer of the ubiquitin protein from a ubiquitin E2 enzyme to a protein substrate. Homozygous knockout mice for this gene exhibit enhanced anxiety-like behavior. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015] PHENOTYPE: Mice homozygous for a knock-out allele display significantly increased anxiety-like behavior under stressful conditions as well as increased prepulse inhibition and a reduced startle amplitude with no detectable changes in exploratory locomotion or behavioral despair. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930555F03Rik |
G |
A |
8: 49,953,472 (GRCm39) |
|
noncoding transcript |
Het |
Abhd17b |
T |
C |
19: 21,658,263 (GRCm39) |
Y167H |
possibly damaging |
Het |
Ablim1 |
T |
C |
19: 57,123,086 (GRCm39) |
D167G |
probably damaging |
Het |
Bpnt1 |
G |
T |
1: 185,070,372 (GRCm39) |
K21N |
probably damaging |
Het |
Cables2 |
A |
G |
2: 179,903,431 (GRCm39) |
V251A |
probably benign |
Het |
Cyp2b13 |
T |
C |
7: 25,785,438 (GRCm39) |
L269P |
probably damaging |
Het |
Dhodh |
A |
G |
8: 110,321,396 (GRCm39) |
I330T |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,340,527 (GRCm39) |
D2311E |
probably damaging |
Het |
Dph1 |
T |
C |
11: 75,074,428 (GRCm39) |
D128G |
probably benign |
Het |
Dsg1c |
T |
A |
18: 20,410,056 (GRCm39) |
I508N |
probably benign |
Het |
Eftud2 |
T |
C |
11: 102,742,580 (GRCm39) |
|
probably null |
Het |
Fstl4 |
T |
A |
11: 52,664,698 (GRCm39) |
H9Q |
probably benign |
Het |
Glra3 |
A |
T |
8: 56,542,063 (GRCm39) |
M269L |
probably benign |
Het |
Gpatch8 |
C |
A |
11: 102,398,983 (GRCm39) |
R83L |
unknown |
Het |
Gss |
A |
G |
2: 155,415,090 (GRCm39) |
V205A |
probably benign |
Het |
Ifi30 |
A |
G |
8: 71,217,405 (GRCm39) |
|
probably benign |
Het |
Itch |
T |
A |
2: 155,044,181 (GRCm39) |
Y495* |
probably null |
Het |
Lilrb4a |
C |
T |
10: 51,367,322 (GRCm39) |
Q22* |
probably null |
Het |
Mest |
T |
C |
6: 30,744,913 (GRCm39) |
F201S |
possibly damaging |
Het |
Myh8 |
T |
A |
11: 67,185,266 (GRCm39) |
I839N |
probably damaging |
Het |
Myo7a |
C |
T |
7: 97,724,319 (GRCm39) |
G1122E |
probably damaging |
Het |
Ntan1 |
T |
A |
16: 13,653,063 (GRCm39) |
M273K |
probably benign |
Het |
Numa1 |
A |
G |
7: 101,656,739 (GRCm39) |
K1548R |
probably benign |
Het |
Obsl1 |
A |
G |
1: 75,469,161 (GRCm39) |
V1260A |
probably damaging |
Het |
Or4b12 |
T |
A |
2: 90,096,295 (GRCm39) |
I160F |
probably damaging |
Het |
Or4c10 |
T |
C |
2: 89,760,888 (GRCm39) |
V245A |
probably damaging |
Het |
Pde10a |
A |
G |
17: 9,172,636 (GRCm39) |
S669G |
possibly damaging |
Het |
Ppargc1b |
T |
C |
18: 61,456,222 (GRCm39) |
D79G |
probably damaging |
Het |
Slc22a4 |
C |
A |
11: 53,879,598 (GRCm39) |
|
probably benign |
Het |
Snx25 |
A |
T |
8: 46,494,386 (GRCm39) |
M833K |
possibly damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Susd2 |
A |
T |
10: 75,475,929 (GRCm39) |
Y357N |
probably damaging |
Het |
Syne4 |
C |
A |
7: 30,015,659 (GRCm39) |
S91Y |
possibly damaging |
Het |
Tgfbrap1 |
C |
A |
1: 43,114,981 (GRCm39) |
G40C |
probably damaging |
Het |
Tial1 |
A |
G |
7: 128,050,069 (GRCm39) |
S94P |
probably damaging |
Het |
Tle3 |
A |
G |
9: 61,301,941 (GRCm39) |
T117A |
possibly damaging |
Het |
Usp48 |
A |
C |
4: 137,331,834 (GRCm39) |
R73S |
possibly damaging |
Het |
Utrn |
G |
T |
10: 12,297,352 (GRCm39) |
D685E |
possibly damaging |
Het |
|
Other mutations in Rnf103 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00510:Rnf103
|
APN |
6 |
71,486,733 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00589:Rnf103
|
APN |
6 |
71,486,067 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01601:Rnf103
|
APN |
6 |
71,486,167 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01732:Rnf103
|
APN |
6 |
71,487,366 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02130:Rnf103
|
APN |
6 |
71,486,548 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02227:Rnf103
|
APN |
6 |
71,487,172 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02532:Rnf103
|
APN |
6 |
71,486,636 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02532:Rnf103
|
APN |
6 |
71,486,809 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02747:Rnf103
|
APN |
6 |
71,486,161 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02839:Rnf103
|
APN |
6 |
71,486,689 (GRCm39) |
missense |
probably benign |
0.41 |
IGL03247:Rnf103
|
APN |
6 |
71,487,289 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0140:Rnf103
|
UTSW |
6 |
71,486,315 (GRCm39) |
missense |
possibly damaging |
0.76 |
R0308:Rnf103
|
UTSW |
6 |
71,486,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R0764:Rnf103
|
UTSW |
6 |
71,486,566 (GRCm39) |
missense |
probably damaging |
0.96 |
R1428:Rnf103
|
UTSW |
6 |
71,485,983 (GRCm39) |
missense |
probably damaging |
1.00 |
R2362:Rnf103
|
UTSW |
6 |
71,487,001 (GRCm39) |
missense |
probably benign |
0.08 |
R3847:Rnf103
|
UTSW |
6 |
71,485,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R3849:Rnf103
|
UTSW |
6 |
71,485,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R3919:Rnf103
|
UTSW |
6 |
71,487,331 (GRCm39) |
missense |
probably benign |
0.08 |
R4914:Rnf103
|
UTSW |
6 |
71,487,248 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5620:Rnf103
|
UTSW |
6 |
71,486,992 (GRCm39) |
missense |
probably benign |
0.04 |
R5634:Rnf103
|
UTSW |
6 |
71,486,601 (GRCm39) |
missense |
probably benign |
0.01 |
R5682:Rnf103
|
UTSW |
6 |
71,485,708 (GRCm39) |
intron |
probably benign |
|
R5791:Rnf103
|
UTSW |
6 |
71,485,909 (GRCm39) |
missense |
probably damaging |
0.99 |
R5994:Rnf103
|
UTSW |
6 |
71,473,894 (GRCm39) |
missense |
probably damaging |
0.99 |
R6347:Rnf103
|
UTSW |
6 |
71,482,808 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6551:Rnf103
|
UTSW |
6 |
71,487,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R7739:Rnf103
|
UTSW |
6 |
71,486,463 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7819:Rnf103
|
UTSW |
6 |
71,485,914 (GRCm39) |
missense |
probably benign |
0.00 |
R7903:Rnf103
|
UTSW |
6 |
71,486,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R8750:Rnf103
|
UTSW |
6 |
71,486,602 (GRCm39) |
missense |
probably benign |
0.11 |
R8784:Rnf103
|
UTSW |
6 |
71,486,982 (GRCm39) |
missense |
probably benign |
0.03 |
R8974:Rnf103
|
UTSW |
6 |
71,486,092 (GRCm39) |
missense |
probably damaging |
0.98 |
R9154:Rnf103
|
UTSW |
6 |
71,487,099 (GRCm39) |
missense |
probably benign |
0.06 |
R9505:Rnf103
|
UTSW |
6 |
71,487,049 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-04-16 |