Incidental Mutation 'IGL01601:Rnf103'
ID |
91779 |
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 # |
IGL01601
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
71470878-71487865 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 71486167 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 266
(V266G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109817
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064637]
[ENSMUST00000114178]
[ENSMUST00000114179]
|
AlphaFold |
Q9R1W3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064637
AA Change: V266G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000066324 Gene: ENSMUSG00000052656 AA Change: V266G
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 damaging
Transcript: ENSMUST00000114179
AA Change: V266G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109817 Gene: ENSMUSG00000052656 AA Change: V266G
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf2 |
T |
C |
17: 43,020,940 (GRCm39) |
D628G |
probably benign |
Het |
Aldh1l1 |
T |
A |
6: 90,568,823 (GRCm39) |
I708N |
probably damaging |
Het |
Ank3 |
T |
A |
10: 69,840,555 (GRCm39) |
F985I |
possibly damaging |
Het |
Arap2 |
A |
G |
5: 62,798,685 (GRCm39) |
W1315R |
probably damaging |
Het |
Arhgef33 |
C |
A |
17: 80,655,112 (GRCm39) |
Q106K |
probably damaging |
Het |
Atad5 |
G |
A |
11: 79,986,343 (GRCm39) |
G477S |
probably benign |
Het |
Chgb |
T |
A |
2: 132,635,411 (GRCm39) |
I451K |
probably benign |
Het |
Cln6 |
T |
A |
9: 62,754,252 (GRCm39) |
I98N |
probably damaging |
Het |
Commd1 |
T |
C |
11: 22,849,981 (GRCm39) |
E234G |
probably damaging |
Het |
Dock2 |
C |
A |
11: 34,189,528 (GRCm39) |
|
probably null |
Het |
Flrt2 |
T |
C |
12: 95,746,369 (GRCm39) |
S236P |
probably damaging |
Het |
Garnl3 |
G |
A |
2: 32,887,701 (GRCm39) |
Q770* |
probably null |
Het |
Gpr22 |
C |
T |
12: 31,760,044 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,503,164 (GRCm39) |
D3880E |
probably benign |
Het |
Lgals8 |
T |
C |
13: 12,471,219 (GRCm39) |
|
probably benign |
Het |
Mccc1 |
A |
G |
3: 36,044,101 (GRCm39) |
V214A |
probably benign |
Het |
Nat8l |
T |
C |
5: 34,155,809 (GRCm39) |
L155P |
probably damaging |
Het |
Nckipsd |
A |
G |
9: 108,691,154 (GRCm39) |
S359G |
probably benign |
Het |
Pex6 |
A |
C |
17: 47,034,650 (GRCm39) |
N785T |
probably damaging |
Het |
Potefam1 |
A |
T |
2: 111,023,823 (GRCm39) |
C104S |
unknown |
Het |
Ptprz1 |
T |
A |
6: 23,000,437 (GRCm39) |
H842Q |
probably damaging |
Het |
Rhno1 |
A |
T |
6: 128,335,021 (GRCm39) |
S101T |
probably damaging |
Het |
Slc25a39 |
T |
C |
11: 102,296,544 (GRCm39) |
D100G |
probably damaging |
Het |
Sspo |
T |
C |
6: 48,463,313 (GRCm39) |
L3746P |
probably benign |
Het |
Svep1 |
C |
T |
4: 58,084,872 (GRCm39) |
G1822E |
probably damaging |
Het |
Tbl3 |
T |
A |
17: 24,921,291 (GRCm39) |
D500V |
probably damaging |
Het |
Tmc5 |
T |
C |
7: 118,223,047 (GRCm39) |
|
probably benign |
Het |
Usp20 |
C |
T |
2: 30,901,806 (GRCm39) |
R524W |
probably benign |
Het |
Wnk2 |
G |
T |
13: 49,230,038 (GRCm39) |
P829T |
probably damaging |
Het |
Zmiz1 |
A |
G |
14: 25,582,068 (GRCm39) |
N84S |
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 |
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 |
IGL02386:Rnf103
|
APN |
6 |
71,486,202 (GRCm39) |
missense |
probably benign |
|
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 |
2013-12-09 |