Incidental Mutation 'R0924:Rnf31'
| ID |
83110 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf31
|
| Ensembl Gene |
ENSMUSG00000047098 |
| Gene Name |
ring finger protein 31 |
| Synonyms |
Paul, HOIP |
| MMRRC Submission |
039071-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0924 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55829199-55841131 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 55830459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123798
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019443]
[ENSMUST00000111378]
[ENSMUST00000137296]
[ENSMUST00000161807]
[ENSMUST00000159687]
|
| AlphaFold |
Q924T7 |
| Predicted Effect |
probably benign
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: ENSMUST00000111378
|
| SMART Domains |
Protein: ENSMUSP00000107009
Gene: ENSMUSG00000079197
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PA28_alpha
|
1 |
64 |
2.2e-26 |
PFAM |
|
Pfam:PA28_beta
|
82 |
231 |
1.7e-66 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126544
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133903
|
| 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 benign
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: ENSMUST00000159282
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161027
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161573
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162700
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159845
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227664
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161807
|
| SMART Domains |
Protein: ENSMUSP00000123798
Gene: ENSMUSG00000079197
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PA28_alpha
|
11 |
71 |
1.2e-26 |
PFAM |
|
Pfam:PA28_beta
|
93 |
237 |
5.3e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159687
|
| SMART Domains |
Protein: ENSMUSP00000125596
Gene: ENSMUSG00000079197
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PA28_alpha
|
1 |
64 |
1.2e-26 |
PFAM |
|
Pfam:PA28_beta
|
82 |
165 |
3e-36 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.2%
|
| Validation Efficiency |
97% (69/71) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
A |
T |
8: 114,432,028 (GRCm39) |
|
probably null |
Het |
| Ahcyl2 |
A |
C |
6: 29,870,627 (GRCm39) |
|
probably null |
Het |
| Ajap1 |
T |
A |
4: 153,470,929 (GRCm39) |
I293F |
probably damaging |
Het |
| Akap10 |
T |
C |
11: 61,795,689 (GRCm39) |
|
probably benign |
Het |
| Aldh3b2 |
T |
C |
19: 4,029,350 (GRCm39) |
V241A |
probably benign |
Het |
| Anxa6 |
A |
T |
11: 54,885,214 (GRCm39) |
|
probably null |
Het |
| Atpaf1 |
T |
A |
4: 115,652,635 (GRCm39) |
V12D |
probably damaging |
Het |
| Aurkb |
C |
A |
11: 68,936,822 (GRCm39) |
Y12* |
probably null |
Het |
| Bicdl1 |
A |
G |
5: 115,799,587 (GRCm39) |
|
probably benign |
Het |
| Bnc1 |
A |
T |
7: 81,628,156 (GRCm39) |
|
probably benign |
Het |
| Bpi |
A |
G |
2: 158,103,346 (GRCm39) |
I114V |
possibly damaging |
Het |
| Cacna1c |
A |
T |
6: 118,652,857 (GRCm39) |
I772N |
probably damaging |
Het |
| Cacna2d1 |
A |
G |
5: 16,570,860 (GRCm39) |
N1045D |
possibly damaging |
Het |
| Ccrl2 |
A |
G |
9: 110,885,036 (GRCm39) |
V154A |
probably benign |
Het |
| Celsr3 |
C |
A |
9: 108,723,224 (GRCm39) |
Q2831K |
possibly damaging |
Het |
| Cplane1 |
T |
C |
15: 8,280,554 (GRCm39) |
|
probably benign |
Het |
| Cul3 |
A |
T |
1: 80,267,835 (GRCm39) |
M102K |
probably damaging |
Het |
| Cwf19l2 |
T |
C |
9: 3,441,047 (GRCm39) |
|
probably benign |
Het |
| Dlg5 |
G |
A |
14: 24,185,645 (GRCm39) |
P1920L |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,312,134 (GRCm39) |
H4393R |
probably damaging |
Het |
| Eif2b3 |
T |
A |
4: 116,938,775 (GRCm39) |
V408D |
possibly damaging |
Het |
| Eml3 |
T |
C |
19: 8,910,675 (GRCm39) |
|
probably null |
Het |
| Enpp2 |
T |
C |
15: 54,770,355 (GRCm39) |
|
probably benign |
Het |
| Fcgbpl1 |
A |
T |
7: 27,839,555 (GRCm39) |
Y456F |
probably damaging |
Het |
| Gm14178 |
T |
A |
11: 99,638,326 (GRCm39) |
T18S |
|
Het |
| H2bc12 |
G |
A |
13: 22,220,210 (GRCm39) |
D52N |
probably damaging |
Het |
| H2-M11 |
A |
G |
17: 36,860,106 (GRCm39) |
M324V |
probably benign |
Het |
| H2-T13 |
A |
T |
17: 36,394,824 (GRCm39) |
V33E |
probably damaging |
Het |
| Hdac10 |
T |
C |
15: 89,010,065 (GRCm39) |
T298A |
probably benign |
Het |
| Hepacam |
A |
C |
9: 37,295,224 (GRCm39) |
|
probably benign |
Het |
| Hmx3 |
A |
T |
7: 131,144,813 (GRCm39) |
H41L |
probably benign |
Het |
| Ifi27l2a |
A |
G |
12: 103,408,639 (GRCm39) |
V68A |
probably damaging |
Het |
| Itga11 |
A |
G |
9: 62,683,956 (GRCm39) |
E1079G |
probably benign |
Het |
| Krt6a |
T |
C |
15: 101,599,235 (GRCm39) |
|
probably benign |
Het |
| L1td1 |
A |
G |
4: 98,625,862 (GRCm39) |
N686D |
probably damaging |
Het |
| Lrrtm2 |
G |
A |
18: 35,346,808 (GRCm39) |
R165C |
probably damaging |
Het |
| Macf1 |
G |
T |
4: 123,279,271 (GRCm39) |
A3910E |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,361,252 (GRCm39) |
Y1521F |
possibly damaging |
Het |
| Myo7a |
A |
T |
7: 97,747,463 (GRCm39) |
I129N |
probably damaging |
Het |
| Ncam1 |
A |
T |
9: 49,473,476 (GRCm39) |
|
probably benign |
Het |
| Nckap1 |
A |
T |
2: 80,384,593 (GRCm39) |
C114S |
probably benign |
Het |
| Nf1 |
T |
G |
11: 79,344,692 (GRCm39) |
W1260G |
probably damaging |
Het |
| Or3a1d |
T |
C |
11: 74,237,624 (GRCm39) |
Y262C |
probably damaging |
Het |
| Or6b2b |
A |
G |
1: 92,419,127 (GRCm39) |
S117P |
possibly damaging |
Het |
| Or6c76b |
A |
T |
10: 129,692,515 (GRCm39) |
I43F |
probably damaging |
Het |
| Oxtr |
A |
T |
6: 112,466,598 (GRCm39) |
|
probably null |
Het |
| Pabpc4 |
C |
T |
4: 123,188,458 (GRCm39) |
R356C |
possibly damaging |
Het |
| Pcbp2 |
T |
A |
15: 102,398,197 (GRCm39) |
D182E |
probably damaging |
Het |
| Pgm2 |
A |
T |
5: 64,269,490 (GRCm39) |
I526F |
possibly damaging |
Het |
| Rab43 |
A |
T |
6: 87,769,752 (GRCm39) |
Y151* |
probably null |
Het |
| Rbm19 |
A |
G |
5: 120,264,269 (GRCm39) |
E343G |
probably benign |
Het |
| Rel |
A |
T |
11: 23,692,439 (GRCm39) |
D531E |
probably benign |
Het |
| Rfx4 |
T |
A |
10: 84,704,291 (GRCm39) |
V262E |
probably damaging |
Het |
| Robo3 |
T |
A |
9: 37,340,778 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,672,178 (GRCm39) |
L1431P |
probably damaging |
Het |
| Sema3d |
A |
C |
5: 12,513,183 (GRCm39) |
D51A |
possibly damaging |
Het |
| Sema6a |
A |
G |
18: 47,381,559 (GRCm39) |
L996P |
probably damaging |
Het |
| Sh2d4a |
T |
A |
8: 68,787,775 (GRCm39) |
F294I |
probably damaging |
Het |
| Sorl1 |
T |
A |
9: 41,919,470 (GRCm39) |
|
probably benign |
Het |
| Sox1ot |
G |
T |
8: 12,480,455 (GRCm39) |
|
noncoding transcript |
Het |
| Spsb3 |
A |
T |
17: 25,110,358 (GRCm39) |
N395I |
probably damaging |
Het |
| Sptan1 |
A |
G |
2: 29,906,040 (GRCm39) |
N1662S |
probably damaging |
Het |
| Srd5a2 |
G |
T |
17: 74,331,516 (GRCm39) |
N160K |
probably damaging |
Het |
| Sting1 |
A |
G |
18: 35,868,154 (GRCm39) |
|
probably null |
Het |
| Tmem132d |
G |
A |
5: 128,061,503 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,549,800 (GRCm39) |
Q686L |
possibly damaging |
Het |
| Vmn2r93 |
A |
G |
17: 18,524,443 (GRCm39) |
T146A |
probably benign |
Het |
| Wdr19 |
A |
G |
5: 65,413,782 (GRCm39) |
|
probably benign |
Het |
| Zfp646 |
C |
T |
7: 127,482,982 (GRCm39) |
Q1500* |
probably null |
Het |
| Zfp683 |
T |
C |
4: 133,783,138 (GRCm39) |
Y201H |
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 |
|
|
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 |
|
|
R4350: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'- TCATCCCAGACAGAATGCACTGGA -3'
(R):5'- GGTTAGGGGAAGTCACAAAACAGTCTT -3'
Sequencing Primer
(F):5'- AGAATGCACTGGACCAGC -3'
(R):5'- agttcaaatcccagcaccc -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation