Incidental Mutation 'IGL00158:Rnf31'
| ID |
962 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rnf31
|
| Ensembl Gene |
ENSMUSG00000047098 |
| Gene Name |
ring finger protein 31 |
| Synonyms |
Paul, HOIP |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00158
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
55829199-55841131 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 55829776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019443]
[ENSMUST00000111378]
[ENSMUST00000137296]
[ENSMUST00000161807]
[ENSMUST00000159687]
|
| 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: 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 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: ENSMUST00000159282
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161027
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161573
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162700
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159845
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227664
|
| Coding Region Coverage |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd3 |
T |
A |
18: 10,647,869 (GRCm39) |
D300V |
possibly damaging |
Het |
| Agap1 |
A |
G |
1: 89,591,518 (GRCm39) |
|
probably benign |
Het |
| Best3 |
A |
G |
10: 116,840,446 (GRCm39) |
|
probably benign |
Het |
| Cfap43 |
T |
G |
19: 47,818,914 (GRCm39) |
I125L |
probably benign |
Het |
| Cntn1 |
A |
G |
15: 92,148,758 (GRCm39) |
E335G |
possibly damaging |
Het |
| Csmd3 |
A |
T |
15: 48,150,891 (GRCm39) |
S396T |
possibly damaging |
Het |
| Cxxc5 |
T |
G |
18: 35,993,745 (GRCm39) |
*318G |
probably null |
Het |
| Dpep3 |
T |
C |
8: 106,705,779 (GRCm39) |
T49A |
probably benign |
Het |
| Elf1 |
T |
A |
14: 79,817,789 (GRCm39) |
M436K |
possibly damaging |
Het |
| Ephx2 |
T |
G |
14: 66,330,286 (GRCm39) |
I310L |
probably benign |
Het |
| Fancm |
A |
G |
12: 65,122,510 (GRCm39) |
T11A |
possibly damaging |
Het |
| Ganab |
G |
T |
19: 8,879,959 (GRCm39) |
A73S |
probably benign |
Het |
| Glp1r |
T |
G |
17: 31,120,891 (GRCm39) |
L14R |
possibly damaging |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Krtap9-1 |
C |
T |
11: 99,764,680 (GRCm39) |
P139S |
unknown |
Het |
| L2hgdh |
T |
C |
12: 69,748,208 (GRCm39) |
D306G |
possibly damaging |
Het |
| Liat1 |
T |
C |
11: 75,894,192 (GRCm39) |
S190P |
probably benign |
Het |
| Lrriq4 |
A |
G |
3: 30,705,104 (GRCm39) |
|
probably null |
Het |
| Mbd3 |
T |
G |
10: 80,229,717 (GRCm39) |
|
probably benign |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mug1 |
T |
C |
6: 121,842,768 (GRCm39) |
S585P |
probably damaging |
Het |
| Nat8f4 |
C |
A |
6: 85,877,969 (GRCm39) |
A185S |
probably benign |
Het |
| Nlrc5 |
C |
T |
8: 95,228,839 (GRCm39) |
|
probably benign |
Het |
| Or8b12 |
T |
A |
9: 37,657,685 (GRCm39) |
I85N |
possibly damaging |
Het |
| Or8g23 |
T |
A |
9: 38,971,159 (GRCm39) |
M268L |
probably benign |
Het |
| Peg3 |
T |
A |
7: 6,713,273 (GRCm39) |
I650F |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,213,279 (GRCm39) |
N142K |
probably damaging |
Het |
| Qser1 |
T |
A |
2: 104,596,401 (GRCm39) |
D1537V |
probably damaging |
Het |
| Rbm44 |
T |
A |
1: 91,084,831 (GRCm39) |
D684E |
probably benign |
Het |
| Rnf19a |
A |
C |
15: 36,265,948 (GRCm39) |
S50A |
probably damaging |
Het |
| Rspry1 |
A |
G |
8: 95,349,614 (GRCm39) |
M1V |
probably null |
Het |
| Rspry1 |
A |
T |
8: 95,349,608 (GRCm39) |
|
probably benign |
Het |
| Sap130 |
C |
A |
18: 31,831,819 (GRCm39) |
P769T |
probably benign |
Het |
| Slc22a16 |
T |
A |
10: 40,471,278 (GRCm39) |
M483K |
probably damaging |
Het |
| Slc27a1 |
T |
C |
8: 72,037,416 (GRCm39) |
|
probably null |
Het |
| Slc35a5 |
A |
T |
16: 44,972,971 (GRCm39) |
C65* |
probably null |
Het |
| Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
| Ubqlnl |
T |
C |
7: 103,798,372 (GRCm39) |
E375G |
probably benign |
Het |
| Uggt2 |
G |
A |
14: 119,286,688 (GRCm39) |
T692I |
possibly damaging |
Het |
| Vmn1r211 |
A |
T |
13: 23,036,272 (GRCm39) |
C132S |
probably benign |
Het |
| Vmn2r61 |
A |
T |
7: 41,950,175 (GRCm39) |
N865I |
possibly damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,506,795 (GRCm39) |
M839K |
|
Het |
| Xrn2 |
T |
A |
2: 146,878,670 (GRCm39) |
S455R |
probably benign |
Het |
| Zan |
T |
A |
5: 137,452,519 (GRCm39) |
T1521S |
unknown |
Het |
| Zfp326 |
A |
G |
5: 106,054,911 (GRCm39) |
M361V |
possibly damaging |
Het |
| Zfp472 |
A |
G |
17: 33,196,498 (GRCm39) |
Y191C |
possibly damaging |
Het |
|
| Other mutations in Rnf31 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2011-07-12 |
Incidental Mutation