Incidental Mutation 'IGL02532:Rnf103'
ID |
297346 |
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 # |
IGL02532
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
71470878-71487865 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 71486636 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 422
(S422R)
|
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: S422R
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000066324 Gene: ENSMUSG00000052656 AA Change: S422R
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: S422R
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000109817 Gene: ENSMUSG00000052656 AA Change: S422R
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2200002D01Rik |
T |
C |
7: 28,947,645 (GRCm39) |
K15E |
possibly damaging |
Het |
Abca2 |
A |
G |
2: 25,325,148 (GRCm39) |
T381A |
probably benign |
Het |
Adcy1 |
T |
A |
11: 7,094,737 (GRCm39) |
N554K |
probably benign |
Het |
Adcy5 |
A |
G |
16: 35,092,453 (GRCm39) |
I605V |
possibly damaging |
Het |
Arhgap11a |
G |
T |
2: 113,664,021 (GRCm39) |
S754* |
probably null |
Het |
Arhgef28 |
T |
A |
13: 98,166,391 (GRCm39) |
D319V |
probably damaging |
Het |
Brca2 |
A |
G |
5: 150,474,327 (GRCm39) |
D2410G |
probably damaging |
Het |
Carmil2 |
T |
A |
8: 106,419,063 (GRCm39) |
|
probably null |
Het |
Catip |
A |
G |
1: 74,403,775 (GRCm39) |
N189S |
probably damaging |
Het |
Cd177 |
T |
C |
7: 24,444,674 (GRCm39) |
K636E |
probably benign |
Het |
Cep290 |
A |
G |
10: 100,380,927 (GRCm39) |
T145A |
probably benign |
Het |
Cthrc1 |
T |
C |
15: 38,940,560 (GRCm39) |
|
probably benign |
Het |
Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
Fas |
C |
A |
19: 34,293,999 (GRCm39) |
T118N |
probably damaging |
Het |
Fgd3 |
G |
A |
13: 49,439,237 (GRCm39) |
A253V |
probably damaging |
Het |
Fig4 |
A |
G |
10: 41,161,277 (GRCm39) |
|
probably benign |
Het |
Fubp3 |
T |
C |
2: 31,490,571 (GRCm39) |
|
probably benign |
Het |
Gria2 |
T |
A |
3: 80,614,306 (GRCm39) |
E578V |
probably damaging |
Het |
Gtpbp1 |
T |
A |
15: 79,604,278 (GRCm39) |
V662E |
probably benign |
Het |
Hbb-bt |
T |
C |
7: 103,463,081 (GRCm39) |
|
probably benign |
Het |
Ighv6-5 |
T |
A |
12: 114,380,424 (GRCm39) |
D50V |
probably benign |
Het |
Inpp5k |
T |
C |
11: 75,524,010 (GRCm39) |
|
probably benign |
Het |
Kalrn |
T |
C |
16: 34,181,216 (GRCm39) |
N141D |
probably damaging |
Het |
Kbtbd8 |
A |
G |
6: 95,103,517 (GRCm39) |
T389A |
probably benign |
Het |
Klhl6 |
C |
A |
16: 19,775,832 (GRCm39) |
R242L |
possibly damaging |
Het |
Kmt2b |
T |
C |
7: 30,286,314 (GRCm39) |
|
probably benign |
Het |
Krt13 |
A |
T |
11: 100,010,195 (GRCm39) |
L262Q |
probably damaging |
Het |
Lingo2 |
T |
C |
4: 35,709,171 (GRCm39) |
K270E |
possibly damaging |
Het |
Mroh7 |
A |
G |
4: 106,577,788 (GRCm39) |
S297P |
probably benign |
Het |
Ndufs1 |
G |
A |
1: 63,209,298 (GRCm39) |
R22C |
probably damaging |
Het |
Nlrp5 |
T |
A |
7: 23,109,398 (GRCm39) |
S115T |
possibly damaging |
Het |
Nup50l |
A |
C |
6: 96,141,771 (GRCm39) |
S424R |
probably damaging |
Het |
Pfpl |
A |
T |
19: 12,406,209 (GRCm39) |
R153S |
probably damaging |
Het |
Pkhd1 |
T |
A |
1: 20,187,944 (GRCm39) |
I3455F |
probably damaging |
Het |
Psme1 |
T |
A |
14: 55,818,595 (GRCm39) |
Y223* |
probably null |
Het |
R3hdm1 |
T |
C |
1: 128,124,836 (GRCm39) |
|
probably null |
Het |
Rps6ka2 |
T |
C |
17: 7,523,365 (GRCm39) |
V213A |
probably damaging |
Het |
Sort1 |
G |
T |
3: 108,233,036 (GRCm39) |
K203N |
probably benign |
Het |
Sugp1 |
A |
T |
8: 70,512,469 (GRCm39) |
K239N |
possibly damaging |
Het |
Sult2a8 |
C |
T |
7: 14,150,183 (GRCm39) |
R176K |
probably benign |
Het |
Usp34 |
T |
A |
11: 23,320,291 (GRCm39) |
N888K |
probably damaging |
Het |
Vmn1r4 |
A |
C |
6: 56,934,135 (GRCm39) |
H213P |
possibly damaging |
Het |
Wdr45b |
G |
T |
11: 121,219,639 (GRCm39) |
T303K |
probably benign |
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 |
IGL02386:Rnf103
|
APN |
6 |
71,486,202 (GRCm39) |
missense |
probably benign |
|
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 |