Incidental Mutation 'IGL02839:Rnf103'
ID |
361763 |
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 # |
IGL02839
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
71470878-71487865 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 71486689 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 440
(R440L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109817
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064637]
[ENSMUST00000114178]
[ENSMUST00000114179]
|
AlphaFold |
Q9R1W3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064637
AA Change: R440L
PolyPhen 2
Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000066324 Gene: ENSMUSG00000052656 AA Change: R440L
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 benign
Transcript: ENSMUST00000114179
AA Change: R440L
PolyPhen 2
Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000109817 Gene: ENSMUSG00000052656 AA Change: R440L
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A3galt2 |
T |
C |
4: 128,653,816 (GRCm39) |
|
probably null |
Het |
Aldh1l1 |
T |
C |
6: 90,546,857 (GRCm39) |
F387L |
possibly damaging |
Het |
Aldh5a1 |
A |
G |
13: 25,095,603 (GRCm39) |
S505P |
probably damaging |
Het |
Aox1 |
A |
G |
1: 58,107,943 (GRCm39) |
T642A |
probably benign |
Het |
Atg16l2 |
T |
C |
7: 100,942,604 (GRCm39) |
I364V |
probably damaging |
Het |
Atp2c2 |
T |
C |
8: 120,475,859 (GRCm39) |
V584A |
possibly damaging |
Het |
Axl |
A |
T |
7: 25,466,216 (GRCm39) |
|
probably null |
Het |
Camta1 |
T |
C |
4: 151,228,969 (GRCm39) |
Q621R |
probably damaging |
Het |
Cdca4 |
A |
T |
12: 112,785,511 (GRCm39) |
D72E |
probably damaging |
Het |
Col1a2 |
T |
A |
6: 4,538,748 (GRCm39) |
Y1223N |
unknown |
Het |
Drc1 |
T |
C |
5: 30,507,767 (GRCm39) |
M263T |
probably benign |
Het |
Eef1akmt1 |
A |
T |
14: 57,787,238 (GRCm39) |
Y213N |
probably damaging |
Het |
Fat3 |
C |
A |
9: 15,830,466 (GRCm39) |
D4343Y |
probably damaging |
Het |
Ftdc1 |
A |
G |
16: 58,436,210 (GRCm39) |
Y38H |
probably damaging |
Het |
Gucy2d |
T |
C |
7: 98,093,196 (GRCm39) |
V191A |
possibly damaging |
Het |
Hdac5 |
A |
G |
11: 102,095,734 (GRCm39) |
L355P |
probably damaging |
Het |
Hdgfl3 |
C |
T |
7: 81,550,160 (GRCm39) |
G58D |
probably damaging |
Het |
Hnrnpul1 |
A |
G |
7: 25,432,667 (GRCm39) |
|
probably null |
Het |
Klf12 |
A |
T |
14: 100,137,675 (GRCm39) |
C290* |
probably null |
Het |
Mtmr3 |
A |
T |
11: 4,437,994 (GRCm39) |
I820N |
probably benign |
Het |
Myo7a |
A |
T |
7: 97,740,329 (GRCm39) |
L555Q |
probably damaging |
Het |
Nrsn1 |
A |
G |
13: 25,437,527 (GRCm39) |
C134R |
probably damaging |
Het |
Or13c7d |
T |
A |
4: 43,770,943 (GRCm39) |
K23* |
probably null |
Het |
Or1p1 |
T |
A |
11: 74,180,196 (GRCm39) |
C241* |
probably null |
Het |
Or4c11c |
G |
A |
2: 88,661,992 (GRCm39) |
C177Y |
probably damaging |
Het |
Or56a3b |
A |
C |
7: 104,771,563 (GRCm39) |
T300P |
probably damaging |
Het |
Or5ac24 |
A |
T |
16: 59,165,753 (GRCm39) |
C104S |
probably benign |
Het |
Or5t9 |
T |
A |
2: 86,659,712 (GRCm39) |
N205K |
probably benign |
Het |
Pik3r6 |
A |
G |
11: 68,417,238 (GRCm39) |
E60G |
probably damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,392,939 (GRCm39) |
I1758N |
probably damaging |
Het |
Poc1b |
A |
G |
10: 98,980,460 (GRCm39) |
|
probably benign |
Het |
Siglec1 |
A |
G |
2: 130,926,852 (GRCm39) |
V237A |
possibly damaging |
Het |
Skic2 |
T |
C |
17: 35,066,774 (GRCm39) |
T165A |
probably benign |
Het |
Slit3 |
A |
G |
11: 35,539,874 (GRCm39) |
N762S |
possibly damaging |
Het |
Trank1 |
A |
G |
9: 111,193,824 (GRCm39) |
N616S |
probably damaging |
Het |
Trav14d-3-dv8 |
C |
A |
14: 53,316,247 (GRCm39) |
Q36K |
possibly damaging |
Het |
Ttll6 |
T |
C |
11: 96,049,646 (GRCm39) |
V788A |
probably damaging |
Het |
Ube4b |
A |
T |
4: 149,452,856 (GRCm39) |
S357T |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,710,834 (GRCm39) |
H2701R |
possibly damaging |
Het |
Wdfy3 |
A |
G |
5: 102,116,786 (GRCm39) |
S85P |
probably 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 |
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 |
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 |
2015-12-18 |