Incidental Mutation 'IGL01732:Rnf103'
ID |
105532 |
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 # |
IGL01732
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
71470878-71487865 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 71487366 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 666
(K666E)
|
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: K666E
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000066324 Gene: ENSMUSG00000052656 AA Change: K666E
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: K666E
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000109817 Gene: ENSMUSG00000052656 AA Change: K666E
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh4a1 |
G |
T |
4: 139,369,471 (GRCm39) |
E341* |
probably null |
Het |
Alpk3 |
A |
G |
7: 80,707,390 (GRCm39) |
R5G |
unknown |
Het |
Arhgef10l |
C |
T |
4: 140,307,726 (GRCm39) |
V113M |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,465,852 (GRCm39) |
I1872K |
probably benign |
Het |
Cdk17 |
C |
A |
10: 93,053,907 (GRCm39) |
P134T |
probably benign |
Het |
Cerk |
A |
G |
15: 86,030,517 (GRCm39) |
S35P |
possibly damaging |
Het |
Cfap126 |
T |
C |
1: 170,954,305 (GRCm39) |
V174A |
possibly damaging |
Het |
Cfhr1 |
T |
C |
1: 139,478,606 (GRCm39) |
T255A |
probably benign |
Het |
Clcn1 |
A |
G |
6: 42,287,606 (GRCm39) |
|
probably benign |
Het |
Copz1 |
A |
G |
15: 103,206,318 (GRCm39) |
E151G |
probably benign |
Het |
Cubn |
G |
A |
2: 13,494,747 (GRCm39) |
Q101* |
probably null |
Het |
Eri1 |
T |
C |
8: 35,958,397 (GRCm39) |
E12G |
possibly damaging |
Het |
Fut9 |
A |
G |
4: 25,619,867 (GRCm39) |
F316L |
possibly damaging |
Het |
Garin1a |
A |
T |
6: 29,285,979 (GRCm39) |
H146L |
probably damaging |
Het |
Gm973 |
A |
G |
1: 59,669,396 (GRCm39) |
I816V |
probably benign |
Het |
Itln1 |
A |
G |
1: 171,362,348 (GRCm39) |
M11T |
probably benign |
Het |
Klc2 |
C |
T |
19: 5,159,825 (GRCm39) |
R458Q |
probably damaging |
Het |
Lrrc8b |
A |
T |
5: 105,633,826 (GRCm39) |
E766V |
probably damaging |
Het |
Mmadhc |
A |
T |
2: 50,171,197 (GRCm39) |
I205N |
probably damaging |
Het |
Myo10 |
A |
G |
15: 25,732,149 (GRCm39) |
I342V |
probably benign |
Het |
Ncapg |
T |
A |
5: 45,851,195 (GRCm39) |
V796D |
probably damaging |
Het |
Olfm3 |
A |
C |
3: 114,890,649 (GRCm39) |
D134A |
possibly damaging |
Het |
Or3a1c |
T |
C |
11: 74,046,279 (GRCm39) |
C100R |
probably damaging |
Het |
Or51t4 |
T |
A |
7: 102,598,446 (GRCm39) |
I248N |
probably damaging |
Het |
Or56b2 |
T |
C |
7: 104,337,543 (GRCm39) |
M107T |
possibly damaging |
Het |
Phldb3 |
A |
G |
7: 24,326,751 (GRCm39) |
E593G |
probably damaging |
Het |
Plcg1 |
T |
A |
2: 160,589,699 (GRCm39) |
D74E |
probably damaging |
Het |
Plekhm3 |
T |
C |
1: 64,961,407 (GRCm39) |
D283G |
probably benign |
Het |
Pnpla6 |
C |
A |
8: 3,572,616 (GRCm39) |
T279N |
probably damaging |
Het |
Prkcq |
G |
A |
2: 11,265,644 (GRCm39) |
|
probably benign |
Het |
Rbm11 |
G |
A |
16: 75,397,510 (GRCm39) |
A147T |
probably benign |
Het |
Selenos |
A |
G |
7: 65,730,137 (GRCm39) |
Y45C |
probably damaging |
Het |
Septin11 |
A |
G |
5: 93,309,085 (GRCm39) |
Y255C |
probably damaging |
Het |
Serpinb3c |
T |
C |
1: 107,199,702 (GRCm39) |
H273R |
probably benign |
Het |
Slc35f2 |
A |
G |
9: 53,713,909 (GRCm39) |
D141G |
probably damaging |
Het |
Sntg2 |
A |
T |
12: 30,362,648 (GRCm39) |
Y33N |
probably damaging |
Het |
Snx19 |
C |
A |
9: 30,373,649 (GRCm39) |
T904K |
probably damaging |
Het |
Tenm4 |
A |
G |
7: 96,544,716 (GRCm39) |
Y2244C |
probably damaging |
Het |
Tescl |
A |
G |
7: 24,032,872 (GRCm39) |
V151A |
probably damaging |
Het |
Tnrc18 |
C |
T |
5: 142,757,816 (GRCm39) |
V902M |
unknown |
Het |
Trmt13 |
A |
G |
3: 116,375,113 (GRCm39) |
L465S |
probably damaging |
Het |
Ube2j2 |
T |
G |
4: 156,041,788 (GRCm39) |
V249G |
probably damaging |
Het |
Zan |
T |
C |
5: 137,391,273 (GRCm39) |
K4737R |
unknown |
Het |
Zc3h6 |
T |
C |
2: 128,853,795 (GRCm39) |
I430T |
probably damaging |
Het |
Zfp750 |
G |
A |
11: 121,403,819 (GRCm39) |
S352L |
probably benign |
Het |
Zfp819 |
A |
G |
7: 43,265,846 (GRCm39) |
K34E |
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 |
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 |
2014-01-21 |