Incidental Mutation 'IGL00510:Rnf103'
| ID |
5432 |
| 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 # |
IGL00510
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
71470878-71487865 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71486733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 455
(S455P)
|
| 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: S455P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000066324
Gene: ENSMUSG00000052656
AA Change: S455P
| 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: S455P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109817
Gene: ENSMUSG00000052656
AA Change: S455P
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh1 |
A |
G |
3: 137,995,668 (GRCm39) |
N357S |
probably damaging |
Het |
| Akap4 |
A |
G |
X: 6,942,863 (GRCm39) |
T389A |
probably damaging |
Het |
| Aldh3a1 |
A |
G |
11: 61,104,422 (GRCm39) |
E103G |
probably damaging |
Het |
| Aldh3b3 |
C |
A |
19: 4,015,863 (GRCm39) |
Q278K |
probably benign |
Het |
| Ap3m2 |
A |
T |
8: 23,287,243 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
G |
T |
18: 22,656,622 (GRCm39) |
C1544F |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,801,404 (GRCm39) |
D716G |
probably damaging |
Het |
| Dennd1b |
G |
T |
1: 139,029,809 (GRCm39) |
R322L |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,540,701 (GRCm39) |
V2558M |
probably damaging |
Het |
| Fbp2 |
T |
C |
13: 62,989,698 (GRCm39) |
I203V |
possibly damaging |
Het |
| Gnai1 |
T |
A |
5: 18,496,617 (GRCm39) |
D102V |
probably benign |
Het |
| Gtf2h1 |
C |
T |
7: 46,468,634 (GRCm39) |
T524I |
possibly damaging |
Het |
| Hinfp |
G |
A |
9: 44,209,063 (GRCm39) |
R352C |
probably damaging |
Het |
| Lpin1 |
G |
A |
12: 16,603,993 (GRCm39) |
H613Y |
probably benign |
Het |
| Med29 |
C |
T |
7: 28,090,266 (GRCm39) |
A110T |
possibly damaging |
Het |
| Myo9a |
T |
C |
9: 59,739,464 (GRCm39) |
|
probably benign |
Het |
| Nlgn1 |
G |
T |
3: 25,490,654 (GRCm39) |
P329T |
probably benign |
Het |
| Osmr |
G |
T |
15: 6,853,112 (GRCm39) |
Y593* |
probably null |
Het |
| Otx2 |
T |
C |
14: 48,896,192 (GRCm39) |
T289A |
probably benign |
Het |
| Pkn2 |
T |
C |
3: 142,504,780 (GRCm39) |
T799A |
probably damaging |
Het |
| Plcb1 |
T |
A |
2: 135,093,676 (GRCm39) |
V163D |
possibly damaging |
Het |
| Rgs3 |
G |
A |
4: 62,619,417 (GRCm39) |
A501T |
possibly damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,360,002 (GRCm39) |
T19A |
probably benign |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Spryd7 |
T |
A |
14: 61,783,190 (GRCm39) |
N111Y |
probably damaging |
Het |
| Zfp687 |
A |
G |
3: 94,915,758 (GRCm39) |
S1005P |
probably damaging |
Het |
|
| Other mutations in Rnf103 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
71,486,636 (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 |
2012-04-20 |
Incidental Mutation