Incidental Mutation 'IGL02747:Rnf103'
ID |
306085 |
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 # |
IGL02747
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
71470878-71487865 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 71486161 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 264
(I264N)
|
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: I264N
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000066324 Gene: ENSMUSG00000052656 AA Change: I264N
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: I264N
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000109817 Gene: ENSMUSG00000052656 AA Change: I264N
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,323,282 (GRCm39) |
L3373* |
probably null |
Het |
Ap1s3 |
T |
C |
1: 79,601,409 (GRCm39) |
Y94C |
probably damaging |
Het |
Dbx2 |
T |
C |
15: 95,530,320 (GRCm39) |
T216A |
probably benign |
Het |
Dsg4 |
A |
G |
18: 20,579,995 (GRCm39) |
R67G |
probably damaging |
Het |
Eng |
G |
A |
2: 32,562,970 (GRCm39) |
|
probably null |
Het |
Gm28042 |
T |
A |
2: 119,861,875 (GRCm39) |
I206N |
probably damaging |
Het |
Gsdmc4 |
C |
T |
15: 63,765,720 (GRCm39) |
M276I |
probably benign |
Het |
Itih2 |
A |
G |
2: 10,102,756 (GRCm39) |
S793P |
probably benign |
Het |
Kcnj13 |
T |
C |
1: 87,317,087 (GRCm39) |
N9D |
probably benign |
Het |
Kics2 |
A |
C |
10: 121,581,455 (GRCm39) |
Q152P |
possibly damaging |
Het |
Krt78 |
T |
A |
15: 101,858,819 (GRCm39) |
|
probably benign |
Het |
Megf10 |
A |
G |
18: 57,423,565 (GRCm39) |
K985E |
probably benign |
Het |
Naa25 |
A |
G |
5: 121,552,668 (GRCm39) |
|
probably benign |
Het |
Or8b3b |
T |
C |
9: 38,584,380 (GRCm39) |
Y133C |
probably benign |
Het |
Plekhm2 |
T |
C |
4: 141,361,583 (GRCm39) |
T307A |
possibly damaging |
Het |
Ppp1cc |
A |
G |
5: 122,312,136 (GRCm39) |
K301E |
probably benign |
Het |
Ralgds |
T |
C |
2: 28,438,122 (GRCm39) |
|
probably benign |
Het |
Rccd1 |
A |
T |
7: 79,970,238 (GRCm39) |
D126E |
probably benign |
Het |
Reps1 |
T |
C |
10: 17,999,348 (GRCm39) |
S712P |
probably damaging |
Het |
Rpap1 |
A |
G |
2: 119,604,609 (GRCm39) |
I433T |
probably damaging |
Het |
Ryr2 |
T |
G |
13: 11,670,563 (GRCm39) |
N3478H |
probably damaging |
Het |
Sox30 |
A |
G |
11: 45,871,772 (GRCm39) |
D209G |
probably benign |
Het |
Sox6 |
A |
G |
7: 115,088,981 (GRCm39) |
F628S |
probably damaging |
Het |
Tas1r3 |
C |
T |
4: 155,944,917 (GRCm39) |
G768D |
possibly damaging |
Het |
Tesk2 |
T |
C |
4: 116,660,076 (GRCm39) |
V398A |
probably benign |
Het |
Tmem135 |
A |
T |
7: 88,793,878 (GRCm39) |
I388N |
probably damaging |
Het |
Tpgs2 |
A |
G |
18: 25,272,202 (GRCm39) |
|
probably benign |
Het |
Vmn2r120 |
G |
A |
17: 57,831,719 (GRCm39) |
H357Y |
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 |
71,486,636 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02532:Rnf103
|
APN |
6 |
71,486,809 (GRCm39) |
missense |
probably benign |
0.19 |
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 |