Incidental Mutation 'R6551:Rnf103'
| ID |
521608 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf103
|
| Ensembl Gene |
ENSMUSG00000052656 |
| Gene Name |
ring finger protein 103 |
| Synonyms |
Zfp103, kf-1 |
| MMRRC Submission |
044676-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.215)
|
| Stock # |
R6551 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
71470878-71487865 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 71487349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 660
(C660Y)
|
| 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: C660Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066324
Gene: ENSMUSG00000052656
AA Change: C660Y
| 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: C660Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109817
Gene: ENSMUSG00000052656
AA Change: C660Y
| 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 |
0.9722 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (41/41) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
A |
T |
1: 192,856,831 (GRCm39) |
Q61L |
probably damaging |
Het |
| Acss2 |
T |
C |
2: 155,393,128 (GRCm39) |
S285P |
probably benign |
Het |
| Ager |
A |
G |
17: 34,818,442 (GRCm39) |
|
probably null |
Het |
| Alkbh7 |
T |
A |
17: 57,305,945 (GRCm39) |
Y115* |
probably null |
Het |
| Brwd1 |
T |
C |
16: 95,795,162 (GRCm39) |
D2184G |
possibly damaging |
Het |
| Chp1 |
T |
A |
2: 119,402,294 (GRCm39) |
H89Q |
possibly damaging |
Het |
| Clmp |
T |
C |
9: 40,682,573 (GRCm39) |
V119A |
probably benign |
Het |
| Cryge |
A |
T |
1: 65,087,796 (GRCm39) |
M171K |
probably benign |
Het |
| Cttnbp2nl |
A |
T |
3: 104,912,433 (GRCm39) |
S484T |
possibly damaging |
Het |
| Dsg3 |
C |
A |
18: 20,672,968 (GRCm39) |
P880T |
unknown |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Espn |
T |
C |
4: 152,213,223 (GRCm39) |
|
|
Het |
| Fbxo31 |
A |
C |
8: 122,291,443 (GRCm39) |
|
probably benign |
Het |
| Grin2b |
A |
G |
6: 135,710,342 (GRCm39) |
V1068A |
probably damaging |
Het |
| Jak1 |
C |
A |
4: 101,051,040 (GRCm39) |
|
probably benign |
Het |
| Klra10 |
A |
T |
6: 130,252,718 (GRCm39) |
D185E |
probably benign |
Het |
| Lhx1 |
A |
C |
11: 84,412,739 (GRCm39) |
D60E |
probably benign |
Het |
| Lyar |
C |
A |
5: 38,390,616 (GRCm39) |
A326D |
probably damaging |
Het |
| Muc16 |
A |
C |
9: 18,473,858 (GRCm39) |
S1280A |
possibly damaging |
Het |
| Nol9 |
G |
A |
4: 152,136,325 (GRCm39) |
V466I |
possibly damaging |
Het |
| Or10d1 |
C |
A |
9: 39,483,856 (GRCm39) |
R233L |
probably benign |
Het |
| Or12e8 |
T |
C |
2: 87,677,005 (GRCm39) |
V130A |
possibly damaging |
Het |
| Or1e17 |
T |
C |
11: 73,831,129 (GRCm39) |
I19T |
probably benign |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Or2w3b |
A |
T |
11: 58,623,583 (GRCm39) |
M136K |
probably damaging |
Het |
| Or2y10 |
G |
T |
11: 49,454,816 (GRCm39) |
V23L |
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 116,016,731 (GRCm39) |
I342N |
probably damaging |
Het |
| Pnldc1 |
A |
G |
17: 13,124,456 (GRCm39) |
M133T |
probably damaging |
Het |
| Rab11fip1 |
G |
A |
8: 27,646,512 (GRCm39) |
S188L |
probably damaging |
Het |
| Rapgef2 |
A |
T |
3: 79,122,342 (GRCm39) |
|
probably null |
Het |
| Rph3al |
G |
A |
11: 75,797,372 (GRCm39) |
S108F |
possibly damaging |
Het |
| Srsf7 |
A |
C |
17: 80,511,648 (GRCm39) |
|
probably benign |
Het |
| Ssrp1 |
A |
G |
2: 84,871,450 (GRCm39) |
|
probably null |
Het |
| Tamm41 |
T |
C |
6: 114,989,142 (GRCm39) |
D284G |
possibly damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tmem39b |
A |
G |
4: 129,585,896 (GRCm39) |
V25A |
probably benign |
Het |
| Tmem88b |
G |
T |
4: 155,870,149 (GRCm39) |
|
probably benign |
Het |
| Unk |
T |
C |
11: 115,941,550 (GRCm39) |
W266R |
probably damaging |
Het |
| Usp8 |
T |
A |
2: 126,575,102 (GRCm39) |
|
probably benign |
Het |
| Zbtb48 |
T |
G |
4: 152,106,678 (GRCm39) |
Q142P |
probably benign |
Het |
| Zdhhc18 |
T |
C |
4: 133,340,960 (GRCm39) |
T267A |
probably benign |
Het |
| Zfp335 |
G |
A |
2: 164,751,285 (GRCm39) |
P94S |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGACTGGTTAACTTGGCCTG -3'
(R):5'- GCATTCAATTGACACACAAGGC -3'
Sequencing Primer
(F):5'- TAACTTGGCCTGCGGGTAC -3'
(R):5'- CAGCATAATGTGTATTTCCTGTCAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation