Incidental Mutation 'R4350:Rnf31'
ID |
328478 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf31
|
Ensembl Gene |
ENSMUSG00000047098 |
Gene Name |
ring finger protein 31 |
Synonyms |
Paul, HOIP |
MMRRC Submission |
041105-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4350 (G1)
|
Quality Score |
217 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
55829199-55841131 bp(+) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
AAC to A
at 55838555 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019443]
[ENSMUST00000130697]
[ENSMUST00000134863]
[ENSMUST00000137296]
[ENSMUST00000138037]
|
AlphaFold |
Q924T7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000019443
|
SMART Domains |
Protein: ENSMUSP00000019443 Gene: ENSMUSG00000047098
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
Pfam:PUB
|
68 |
148 |
7.1e-17 |
PFAM |
low complexity region
|
262 |
294 |
N/A |
INTRINSIC |
ZnF_RBZ
|
298 |
322 |
2.56e-1 |
SMART |
ZnF_RBZ
|
346 |
370 |
6.93e-5 |
SMART |
ZnF_RBZ
|
405 |
429 |
4.86e-1 |
SMART |
Pfam:HOIP-UBA
|
477 |
622 |
2.4e-54 |
PFAM |
Blast:RING
|
693 |
741 |
7e-25 |
BLAST |
IBR
|
773 |
835 |
3.18e-14 |
SMART |
IBR
|
847 |
924 |
5.35e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130697
|
SMART Domains |
Protein: ENSMUSP00000120359 Gene: ENSMUSG00000002325
Domain | Start | End | E-Value | Type |
IRF
|
5 |
117 |
1.19e-53 |
SMART |
low complexity region
|
158 |
182 |
N/A |
INTRINSIC |
low complexity region
|
185 |
194 |
N/A |
INTRINSIC |
IRF-3
|
211 |
377 |
1.13e-59 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133903
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134863
|
SMART Domains |
Protein: ENSMUSP00000120525 Gene: ENSMUSG00000002325
Domain | Start | End | E-Value | Type |
low complexity region
|
34 |
58 |
N/A |
INTRINSIC |
IRF
|
71 |
183 |
1.19e-53 |
SMART |
low complexity region
|
224 |
248 |
N/A |
INTRINSIC |
low complexity region
|
251 |
260 |
N/A |
INTRINSIC |
IRF-3
|
277 |
443 |
1.13e-59 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136109
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137296
|
SMART Domains |
Protein: ENSMUSP00000122955 Gene: ENSMUSG00000047098
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
Pfam:PUB
|
66 |
151 |
6.8e-17 |
PFAM |
Blast:RING
|
214 |
257 |
3e-17 |
BLAST |
low complexity region
|
262 |
294 |
N/A |
INTRINSIC |
ZnF_RBZ
|
298 |
322 |
2.56e-1 |
SMART |
ZnF_RBZ
|
346 |
370 |
6.93e-5 |
SMART |
ZnF_RBZ
|
404 |
428 |
4.86e-1 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000140178
|
SMART Domains |
Protein: ENSMUSP00000118215 Gene: ENSMUSG00000047098
Domain | Start | End | E-Value | Type |
PDB:4OYJ|M
|
2 |
85 |
1e-29 |
PDB |
low complexity region
|
164 |
196 |
N/A |
INTRINSIC |
ZnF_RBZ
|
200 |
224 |
2.56e-1 |
SMART |
ZnF_RBZ
|
248 |
272 |
6.93e-5 |
SMART |
ZnF_RBZ
|
307 |
331 |
4.86e-1 |
SMART |
Pfam:HOIP-UBA
|
369 |
468 |
1.1e-31 |
PFAM |
Blast:RING
|
539 |
587 |
9e-25 |
BLAST |
IBR
|
619 |
681 |
3.18e-14 |
SMART |
IBR
|
693 |
770 |
5.35e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145680
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138037
|
SMART Domains |
Protein: ENSMUSP00000119477 Gene: ENSMUSG00000002325
Domain | Start | End | E-Value | Type |
IRF
|
23 |
135 |
1.19e-53 |
SMART |
low complexity region
|
176 |
200 |
N/A |
INTRINSIC |
low complexity region
|
203 |
212 |
N/A |
INTRINSIC |
IRF-3
|
229 |
395 |
1.13e-59 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227708
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The encoded protein is the E3 ubiquitin-protein ligase component of the linear ubiquitin chain assembly complex. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015] PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality. Mice homozygous for a conditional allele activated in B cells exhibit severely impaired B1 B cell development and impaired antibody responses to both T cell-dependent and T cell-independent type 2 antigens. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
G |
17: 24,498,020 (GRCm39) |
|
probably null |
Het |
Adamts1 |
T |
A |
16: 85,599,234 (GRCm39) |
D122V |
probably benign |
Het |
Ap3d1 |
T |
C |
10: 80,555,119 (GRCm39) |
D402G |
probably benign |
Het |
Ccdc88b |
T |
C |
19: 6,827,640 (GRCm39) |
E954G |
probably damaging |
Het |
Cdh20 |
A |
G |
1: 104,906,814 (GRCm39) |
D547G |
probably damaging |
Het |
Cst13 |
A |
G |
2: 148,672,169 (GRCm39) |
M115V |
probably benign |
Het |
Ctr9 |
T |
A |
7: 110,648,525 (GRCm39) |
Y722N |
probably damaging |
Het |
Dvl3 |
T |
C |
16: 20,344,394 (GRCm39) |
Y257H |
possibly damaging |
Het |
Dzip1 |
T |
C |
14: 119,120,938 (GRCm39) |
D673G |
probably benign |
Het |
Enah |
A |
T |
1: 181,749,985 (GRCm39) |
S266T |
possibly damaging |
Het |
Epha7 |
T |
C |
4: 28,950,393 (GRCm39) |
V732A |
probably damaging |
Het |
F13b |
A |
G |
1: 139,444,036 (GRCm39) |
I457V |
probably benign |
Het |
Fam98a |
A |
G |
17: 75,848,220 (GRCm39) |
F165L |
probably damaging |
Het |
Gcn1 |
G |
T |
5: 115,741,389 (GRCm39) |
R1476L |
probably damaging |
Het |
Gfy |
T |
C |
7: 44,827,040 (GRCm39) |
E352G |
probably benign |
Het |
Inava |
C |
T |
1: 136,153,946 (GRCm39) |
V180I |
probably damaging |
Het |
Lyn |
G |
A |
4: 3,789,796 (GRCm39) |
R443H |
probably damaging |
Het |
Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
Msh6 |
A |
G |
17: 88,292,012 (GRCm39) |
S256G |
probably damaging |
Het |
Ncor1 |
A |
G |
11: 62,301,644 (GRCm39) |
|
probably null |
Het |
Pabpc4 |
C |
T |
4: 123,184,060 (GRCm39) |
T191I |
probably damaging |
Het |
Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
Rchy1 |
T |
C |
5: 92,105,813 (GRCm39) |
D45G |
probably damaging |
Het |
Rftn2 |
T |
C |
1: 55,233,440 (GRCm39) |
T372A |
probably damaging |
Het |
Rlf |
G |
A |
4: 121,006,293 (GRCm39) |
P896S |
probably benign |
Het |
Rpl7a-ps3 |
T |
C |
15: 36,308,283 (GRCm39) |
|
noncoding transcript |
Het |
Sox7 |
A |
G |
14: 64,185,995 (GRCm39) |
T344A |
probably benign |
Het |
Sppl2b |
T |
C |
10: 80,698,560 (GRCm39) |
Y127H |
probably benign |
Het |
Srsf12 |
T |
C |
4: 33,223,612 (GRCm39) |
V37A |
possibly damaging |
Het |
Sst |
A |
G |
16: 23,708,565 (GRCm39) |
S89P |
probably damaging |
Het |
Svil |
T |
A |
18: 5,118,154 (GRCm39) |
C1705S |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Tubgcp3 |
T |
C |
8: 12,691,117 (GRCm39) |
T474A |
probably benign |
Het |
Tubgcp6 |
G |
A |
15: 88,988,198 (GRCm39) |
P925L |
probably benign |
Het |
|
Other mutations in Rnf31 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00158:Rnf31
|
APN |
14 |
55,829,776 (GRCm39) |
splice site |
probably null |
|
IGL01532:Rnf31
|
APN |
14 |
55,840,080 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02118:Rnf31
|
APN |
14 |
55,836,569 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02272:Rnf31
|
APN |
14 |
55,836,239 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02893:Rnf31
|
APN |
14 |
55,836,566 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02939:Rnf31
|
APN |
14 |
55,833,131 (GRCm39) |
missense |
probably benign |
0.30 |
R0285:Rnf31
|
UTSW |
14 |
55,838,846 (GRCm39) |
missense |
probably damaging |
0.96 |
R0678:Rnf31
|
UTSW |
14 |
55,839,170 (GRCm39) |
nonsense |
probably null |
|
R0924:Rnf31
|
UTSW |
14 |
55,830,459 (GRCm39) |
unclassified |
probably benign |
|
R1386:Rnf31
|
UTSW |
14 |
55,834,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R1507:Rnf31
|
UTSW |
14 |
55,836,439 (GRCm39) |
nonsense |
probably null |
|
R2122:Rnf31
|
UTSW |
14 |
55,833,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R2164:Rnf31
|
UTSW |
14 |
55,829,994 (GRCm39) |
missense |
possibly damaging |
0.90 |
R3714:Rnf31
|
UTSW |
14 |
55,840,851 (GRCm39) |
missense |
probably damaging |
1.00 |
R3921:Rnf31
|
UTSW |
14 |
55,838,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R4348:Rnf31
|
UTSW |
14 |
55,838,555 (GRCm39) |
frame shift |
probably null |
|
R4349:Rnf31
|
UTSW |
14 |
55,838,555 (GRCm39) |
frame shift |
probably null |
|
R4351:Rnf31
|
UTSW |
14 |
55,838,555 (GRCm39) |
frame shift |
probably null |
|
R4353:Rnf31
|
UTSW |
14 |
55,838,555 (GRCm39) |
frame shift |
probably null |
|
R4472:Rnf31
|
UTSW |
14 |
55,840,777 (GRCm39) |
missense |
probably damaging |
1.00 |
R5004:Rnf31
|
UTSW |
14 |
55,829,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R5245:Rnf31
|
UTSW |
14 |
55,839,163 (GRCm39) |
missense |
probably damaging |
1.00 |
R5286:Rnf31
|
UTSW |
14 |
55,829,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R5669:Rnf31
|
UTSW |
14 |
55,834,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R5750:Rnf31
|
UTSW |
14 |
55,836,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R6377:Rnf31
|
UTSW |
14 |
55,832,984 (GRCm39) |
missense |
probably damaging |
1.00 |
R7009:Rnf31
|
UTSW |
14 |
55,830,008 (GRCm39) |
missense |
probably benign |
0.00 |
R7018:Rnf31
|
UTSW |
14 |
55,829,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R7670:Rnf31
|
UTSW |
14 |
55,831,818 (GRCm39) |
missense |
probably benign |
0.08 |
R7876:Rnf31
|
UTSW |
14 |
55,830,534 (GRCm39) |
critical splice donor site |
probably null |
|
R8490:Rnf31
|
UTSW |
14 |
55,833,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R8818:Rnf31
|
UTSW |
14 |
55,832,396 (GRCm39) |
missense |
probably benign |
0.10 |
R8900:Rnf31
|
UTSW |
14 |
55,833,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R9246:Rnf31
|
UTSW |
14 |
55,833,698 (GRCm39) |
missense |
probably benign |
0.01 |
R9454:Rnf31
|
UTSW |
14 |
55,833,609 (GRCm39) |
missense |
|
|
R9526:Rnf31
|
UTSW |
14 |
55,836,269 (GRCm39) |
critical splice donor site |
probably null |
|
R9756:Rnf31
|
UTSW |
14 |
55,836,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGGCCCTCAGTTTTAGGATC -3'
(R):5'- ACGAGAACTTGCATTTCGGAC -3'
Sequencing Primer
(F):5'- GCCCTCAGTTTTAGGATCTAAGTG -3'
(R):5'- AGAACTTGCATTTCGGACAGTCTG -3'
|
Posted On |
2015-07-07 |