Incidental Mutation 'R1428:Rnf103'
| ID |
161390 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf103
|
| Ensembl Gene |
ENSMUSG00000052656 |
| Gene Name |
ring finger protein 103 |
| Synonyms |
Zfp103, kf-1 |
| MMRRC Submission |
039484-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.179)
|
| Stock # |
R1428 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
71493894-71510881 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 71508999 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 205
(W205R)
|
| 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: W205R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066324
Gene: ENSMUSG00000052656
AA Change: W205R
| 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: W205R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109817
Gene: ENSMUSG00000052656
AA Change: W205R
| 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
|
| Meta Mutation Damage Score |
0.8479 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.2%
|
| Validation Efficiency |
98% (56/57) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,952,411 (GRCm38) |
I249M |
possibly damaging |
Het |
| 2410089E03Rik |
T |
A |
15: 8,219,369 (GRCm38) |
Y1801N |
possibly damaging |
Het |
| Abl1 |
G |
T |
2: 31,801,810 (GRCm38) |
A1114S |
probably damaging |
Het |
| Acbd5 |
T |
C |
2: 23,099,721 (GRCm38) |
V452A |
probably damaging |
Het |
| Armc12 |
A |
G |
17: 28,537,936 (GRCm38) |
D225G |
probably damaging |
Het |
| Atad3a |
T |
A |
4: 155,755,682 (GRCm38) |
Q121H |
probably damaging |
Het |
| Bptf |
T |
A |
11: 107,073,047 (GRCm38) |
I1711F |
probably damaging |
Het |
| C2cd4c |
A |
T |
10: 79,612,230 (GRCm38) |
I361N |
probably damaging |
Het |
| Canx |
A |
G |
11: 50,308,394 (GRCm38) |
|
probably benign |
Het |
| Ccdc127 |
C |
T |
13: 74,356,915 (GRCm38) |
T194I |
probably benign |
Het |
| Cdc42ep3 |
T |
C |
17: 79,335,036 (GRCm38) |
K152E |
probably benign |
Het |
| Cdh15 |
G |
C |
8: 122,857,495 (GRCm38) |
E112Q |
probably damaging |
Het |
| Cnbd2 |
T |
C |
2: 156,339,284 (GRCm38) |
|
probably null |
Het |
| Crybg1 |
T |
C |
10: 43,975,078 (GRCm38) |
N1599S |
probably benign |
Het |
| Cyc1 |
T |
C |
15: 76,344,348 (GRCm38) |
V59A |
probably benign |
Het |
| Cyp2j11 |
T |
C |
4: 96,294,880 (GRCm38) |
K484E |
probably benign |
Het |
| Ddx60 |
T |
C |
8: 61,958,159 (GRCm38) |
|
probably benign |
Het |
| Epg5 |
T |
C |
18: 77,962,427 (GRCm38) |
S711P |
probably damaging |
Het |
| Espl1 |
A |
T |
15: 102,305,685 (GRCm38) |
Q649L |
probably benign |
Het |
| Eya1 |
G |
A |
1: 14,304,414 (GRCm38) |
|
probably benign |
Het |
| Fam214a |
A |
T |
9: 75,006,321 (GRCm38) |
T79S |
probably benign |
Het |
| Fam71e2 |
T |
A |
7: 4,757,688 (GRCm38) |
H675L |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,296,087 (GRCm38) |
Y1311F |
probably damaging |
Het |
| Gins4 |
T |
C |
8: 23,227,128 (GRCm38) |
Y208C |
probably damaging |
Het |
| Gsk3b |
T |
C |
16: 38,090,575 (GRCm38) |
V17A |
probably benign |
Het |
| Gykl1 |
A |
T |
18: 52,694,761 (GRCm38) |
K347I |
probably benign |
Het |
| Helz |
T |
A |
11: 107,592,840 (GRCm38) |
|
probably benign |
Het |
| Hivep3 |
C |
T |
4: 120,096,575 (GRCm38) |
T696I |
possibly damaging |
Het |
| Ifi27l2a |
G |
T |
12: 103,442,834 (GRCm38) |
|
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,791,511 (GRCm38) |
|
probably benign |
Het |
| Kpna3 |
C |
T |
14: 61,383,220 (GRCm38) |
|
probably benign |
Het |
| Mmp15 |
C |
G |
8: 95,369,562 (GRCm38) |
P327R |
probably benign |
Het |
| Mrc1 |
A |
T |
2: 14,315,263 (GRCm38) |
T1003S |
probably benign |
Het |
| Mtss1 |
T |
C |
15: 58,947,390 (GRCm38) |
D393G |
probably benign |
Het |
| Olfm4 |
T |
A |
14: 80,021,403 (GRCm38) |
Y331N |
probably damaging |
Het |
| Olfr1255 |
G |
C |
2: 89,816,381 (GRCm38) |
L12F |
probably damaging |
Het |
| Olfr517 |
T |
A |
7: 108,868,960 (GRCm38) |
N65Y |
probably damaging |
Het |
| P2rx3 |
G |
C |
2: 85,024,950 (GRCm38) |
T54R |
possibly damaging |
Het |
| Pacsin1 |
C |
T |
17: 27,705,963 (GRCm38) |
T217I |
probably damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,380,425 (GRCm38) |
|
probably null |
Het |
| Pknox1 |
T |
C |
17: 31,592,092 (GRCm38) |
|
probably benign |
Het |
| Plb1 |
A |
G |
5: 32,264,912 (GRCm38) |
R70G |
possibly damaging |
Het |
| Rab3gap2 |
G |
A |
1: 185,247,904 (GRCm38) |
A340T |
probably damaging |
Het |
| Rps6kc1 |
G |
A |
1: 190,798,726 (GRCm38) |
T936M |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,596,707 (GRCm38) |
|
probably benign |
Het |
| Sstr4 |
A |
G |
2: 148,396,359 (GRCm38) |
S297G |
probably benign |
Het |
| Timm8a1 |
C |
T |
X: 134,538,123 (GRCm38) |
E93K |
probably benign |
Het |
| Uck1 |
A |
C |
2: 32,258,355 (GRCm38) |
Y150D |
probably damaging |
Het |
| Yipf4 |
A |
G |
17: 74,498,305 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Rnf103 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00510:Rnf103
|
APN |
6 |
71,509,749 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL00589:Rnf103
|
APN |
6 |
71,509,083 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01601:Rnf103
|
APN |
6 |
71,509,183 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01732:Rnf103
|
APN |
6 |
71,510,382 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02130:Rnf103
|
APN |
6 |
71,509,564 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02227:Rnf103
|
APN |
6 |
71,510,188 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02386:Rnf103
|
APN |
6 |
71,509,218 (GRCm38) |
missense |
probably benign |
|
|
IGL02532:Rnf103
|
APN |
6 |
71,509,652 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02532:Rnf103
|
APN |
6 |
71,509,825 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL02747:Rnf103
|
APN |
6 |
71,509,177 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02839:Rnf103
|
APN |
6 |
71,509,705 (GRCm38) |
missense |
probably benign |
0.41 |
|
IGL03247:Rnf103
|
APN |
6 |
71,510,305 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R0140:Rnf103
|
UTSW |
6 |
71,509,331 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R0308:Rnf103
|
UTSW |
6 |
71,509,702 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0764:Rnf103
|
UTSW |
6 |
71,509,582 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2362:Rnf103
|
UTSW |
6 |
71,510,017 (GRCm38) |
missense |
probably benign |
0.08 |
|
R3847:Rnf103
|
UTSW |
6 |
71,508,875 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3849:Rnf103
|
UTSW |
6 |
71,508,875 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3919:Rnf103
|
UTSW |
6 |
71,510,347 (GRCm38) |
missense |
probably benign |
0.08 |
|
R4914:Rnf103
|
UTSW |
6 |
71,510,264 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R5620:Rnf103
|
UTSW |
6 |
71,510,008 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5634:Rnf103
|
UTSW |
6 |
71,509,617 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5682:Rnf103
|
UTSW |
6 |
71,508,724 (GRCm38) |
intron |
probably benign |
|
|
R5791:Rnf103
|
UTSW |
6 |
71,508,925 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5994:Rnf103
|
UTSW |
6 |
71,496,910 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6347:Rnf103
|
UTSW |
6 |
71,505,824 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6551:Rnf103
|
UTSW |
6 |
71,510,365 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7739:Rnf103
|
UTSW |
6 |
71,509,479 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R7819:Rnf103
|
UTSW |
6 |
71,508,930 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7903:Rnf103
|
UTSW |
6 |
71,509,154 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8750:Rnf103
|
UTSW |
6 |
71,509,618 (GRCm38) |
missense |
probably benign |
0.11 |
|
R8784:Rnf103
|
UTSW |
6 |
71,509,998 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8974:Rnf103
|
UTSW |
6 |
71,509,108 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9154:Rnf103
|
UTSW |
6 |
71,510,115 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9505:Rnf103
|
UTSW |
6 |
71,510,065 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCACAGTTGCCAAGTATTGGTCTC -3'
(R):5'- CCACAAATCGCTTGATGGTTGCTC -3'
Sequencing Primer
(F):5'- GAACGTAAGTTGTTCAACAGCCTC -3'
(R):5'- GCCTGAAGGGATATAAATTCACCTG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation