Incidental Mutation 'IGL02130:Rnf103'
| ID |
281003 |
| 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 # |
IGL02130
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
71470878-71487865 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71486548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 393
(L393S)
|
| 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: L393S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000066324
Gene: ENSMUSG00000052656
AA Change: L393S
| 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: L393S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109817
Gene: ENSMUSG00000052656
AA Change: L393S
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn7l1 |
A |
T |
12: 33,392,141 (GRCm39) |
K239M |
probably damaging |
Het |
| Cep164 |
T |
C |
9: 45,691,090 (GRCm39) |
E1230G |
possibly damaging |
Het |
| Fas |
A |
G |
19: 34,292,695 (GRCm39) |
T101A |
probably benign |
Het |
| Fcnb |
A |
G |
2: 27,974,801 (GRCm39) |
|
probably null |
Het |
| Gm14325 |
A |
G |
2: 177,476,445 (GRCm39) |
|
probably benign |
Het |
| Gm4877 |
A |
T |
6: 42,496,991 (GRCm39) |
|
noncoding transcript |
Het |
| Heyl |
T |
C |
4: 123,140,064 (GRCm39) |
S208P |
probably benign |
Het |
| Ighv10-3 |
A |
T |
12: 114,487,121 (GRCm39) |
L100H |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,267,188 (GRCm39) |
S343G |
probably damaging |
Het |
| Lrriq4 |
T |
A |
3: 30,704,896 (GRCm39) |
V293E |
probably damaging |
Het |
| Mbd3l1 |
A |
T |
9: 18,396,023 (GRCm39) |
R49S |
probably damaging |
Het |
| Mdga1 |
A |
G |
17: 30,076,643 (GRCm39) |
I43T |
possibly damaging |
Het |
| N4bp3 |
T |
C |
11: 51,534,773 (GRCm39) |
E430G |
possibly damaging |
Het |
| Olfml3 |
A |
G |
3: 103,644,283 (GRCm39) |
Y129H |
probably benign |
Het |
| Or4c125 |
C |
A |
2: 89,169,927 (GRCm39) |
V240F |
probably damaging |
Het |
| Or8b12i |
A |
G |
9: 20,082,654 (GRCm39) |
I71T |
probably damaging |
Het |
| Prex2 |
T |
C |
1: 11,183,023 (GRCm39) |
V424A |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,230,386 (GRCm39) |
V804E |
probably damaging |
Het |
| Rnf20 |
T |
C |
4: 49,644,481 (GRCm39) |
|
probably benign |
Het |
| Slc25a16 |
A |
G |
10: 62,780,137 (GRCm39) |
I299V |
probably benign |
Het |
| Tmprss2 |
A |
T |
16: 97,392,089 (GRCm39) |
C5S |
probably damaging |
Het |
| Trpv3 |
A |
C |
11: 73,170,596 (GRCm39) |
M159L |
probably benign |
Het |
| Vmn2r45 |
A |
T |
7: 8,486,556 (GRCm39) |
M244K |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation