Incidental Mutation 'R8490:Rnf31'
| ID |
657961 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R8490 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55829199-55841131 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 55833566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 525
(V525I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019443
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019443]
[ENSMUST00000159687]
|
| AlphaFold |
Q924T7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019443
AA Change: V525I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000019443
Gene: ENSMUSG00000047098
AA Change: V525I
| 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: 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 |
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (52/53) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
G |
1: 71,323,256 (GRCm39) |
K1609Q |
probably damaging |
Het |
| Arl5a |
A |
G |
2: 52,314,614 (GRCm39) |
F12L |
probably benign |
Het |
| Armc9 |
C |
T |
1: 86,202,125 (GRCm39) |
T761I |
probably benign |
Het |
| Bmp1 |
A |
G |
14: 70,727,573 (GRCm39) |
F670S |
possibly damaging |
Het |
| Cd34 |
T |
C |
1: 194,621,281 (GRCm39) |
V3A |
probably benign |
Het |
| Cdkn2a |
A |
T |
4: 89,212,759 (GRCm39) |
M1K |
probably null |
Het |
| Cep135 |
C |
A |
5: 76,786,054 (GRCm39) |
H1052Q |
probably benign |
Het |
| Cfap100 |
T |
C |
6: 90,390,721 (GRCm39) |
|
probably benign |
Het |
| Cib4 |
A |
T |
5: 30,703,075 (GRCm39) |
Y17N |
probably damaging |
Het |
| Col3a1 |
T |
G |
1: 45,385,116 (GRCm39) |
S78A |
probably benign |
Het |
| Crebzf |
A |
G |
7: 90,092,706 (GRCm39) |
M162V |
probably benign |
Het |
| Dbx2 |
T |
A |
15: 95,552,454 (GRCm39) |
M64L |
possibly damaging |
Het |
| Epb41l2 |
A |
T |
10: 25,380,128 (GRCm39) |
T884S |
probably damaging |
Het |
| Erich3 |
T |
A |
3: 154,401,461 (GRCm39) |
S37T |
|
Het |
| Eya1 |
G |
T |
1: 14,254,899 (GRCm39) |
Q383K |
possibly damaging |
Het |
| Gm15130 |
A |
T |
2: 110,983,230 (GRCm39) |
|
probably null |
Het |
| Ido1 |
A |
T |
8: 25,086,954 (GRCm39) |
M1K |
probably null |
Het |
| Loxhd1 |
C |
T |
18: 77,529,162 (GRCm39) |
T1069M |
possibly damaging |
Het |
| Lrrtm2 |
T |
G |
18: 35,346,451 (GRCm39) |
|
probably null |
Het |
| Map1a |
C |
T |
2: 121,135,045 (GRCm39) |
H1716Y |
possibly damaging |
Het |
| Mycbp2 |
T |
A |
14: 103,446,267 (GRCm39) |
T1854S |
probably benign |
Het |
| Myh13 |
T |
C |
11: 67,255,351 (GRCm39) |
S1574P |
probably damaging |
Het |
| Neu1 |
G |
A |
17: 35,150,982 (GRCm39) |
A78T |
probably benign |
Het |
| Nfam1 |
T |
C |
15: 82,907,238 (GRCm39) |
|
probably benign |
Het |
| Or1e27-ps1 |
T |
A |
11: 73,555,675 (GRCm39) |
L80Q |
probably damaging |
Het |
| Or4c10b |
A |
C |
2: 89,711,511 (GRCm39) |
T114P |
probably damaging |
Het |
| Or8k33 |
A |
T |
2: 86,384,027 (GRCm39) |
M147K |
probably benign |
Het |
| Pdgfra |
T |
C |
5: 75,331,329 (GRCm39) |
|
probably null |
Het |
| Ptgfrn |
A |
T |
3: 100,963,686 (GRCm39) |
M642K |
probably damaging |
Het |
| R3hdm1 |
T |
A |
1: 128,162,864 (GRCm39) |
H980Q |
probably benign |
Het |
| Rfc2 |
C |
A |
5: 134,611,698 (GRCm39) |
S19* |
probably null |
Het |
| Rhbdf1 |
C |
A |
11: 32,160,162 (GRCm39) |
S738I |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 52,001,011 (GRCm39) |
N1488K |
probably damaging |
Het |
| Rps27a |
T |
C |
11: 29,496,719 (GRCm39) |
D58G |
probably benign |
Het |
| Serpinc1 |
T |
G |
1: 160,817,028 (GRCm39) |
C41G |
probably damaging |
Het |
| Siglece |
A |
T |
7: 43,309,486 (GRCm39) |
V24D |
probably benign |
Het |
| Sparcl1 |
T |
A |
5: 104,233,574 (GRCm39) |
R592W |
probably null |
Het |
| Stard13 |
A |
G |
5: 150,987,090 (GRCm39) |
S104P |
probably damaging |
Het |
| Ston2 |
A |
G |
12: 91,614,905 (GRCm39) |
V501A |
possibly damaging |
Het |
| Sv2b |
C |
A |
7: 74,855,833 (GRCm39) |
|
probably null |
Het |
| Tiam1 |
T |
C |
16: 89,681,932 (GRCm39) |
R349G |
probably damaging |
Het |
| Tmprss11g |
A |
G |
5: 86,639,976 (GRCm39) |
|
probably null |
Het |
| Tnik |
G |
T |
3: 28,650,321 (GRCm39) |
R507L |
probably damaging |
Het |
| Trabd2b |
G |
T |
4: 114,460,113 (GRCm39) |
S417I |
probably damaging |
Het |
| Ube2q1 |
T |
A |
3: 89,681,308 (GRCm39) |
V97E |
probably benign |
Het |
| Vim |
A |
T |
2: 13,584,265 (GRCm39) |
N306Y |
probably damaging |
Het |
| Vmn1r216 |
G |
T |
13: 23,283,979 (GRCm39) |
A221S |
possibly damaging |
Het |
| Vmn2r113 |
G |
A |
17: 23,177,372 (GRCm39) |
A719T |
probably benign |
Het |
| Vmn2r66 |
A |
G |
7: 84,654,794 (GRCm39) |
|
probably null |
Het |
| Vps45 |
T |
C |
3: 95,948,661 (GRCm39) |
S365G |
probably benign |
Het |
| Zzz3 |
T |
A |
3: 152,134,290 (GRCm39) |
C449* |
probably null |
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 |
|
|
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 |
|
|
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'- TCACGCGATCAGTATTCCTGG -3'
(R):5'- CAGCAAGAGAGACTCTGGTGTG -3'
Sequencing Primer
(F):5'- CGATCAGTATTCCTGGCTGAGC -3'
(R):5'- CAAGAGAGACTCTGGTGTGCTCAC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation