Incidental Mutation 'R6377:Rnf31'
| ID |
515069 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf31
|
| Ensembl Gene |
ENSMUSG00000047098 |
| Gene Name |
ring finger protein 31 |
| Synonyms |
Paul, HOIP |
| MMRRC Submission |
044527-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6377 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55829199-55841131 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55832984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 413
(T413A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019443
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019443]
[ENSMUST00000111378]
[ENSMUST00000137296]
[ENSMUST00000159687]
[ENSMUST00000161807]
|
| AlphaFold |
Q924T7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019443
AA Change: T413A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000019443
Gene: ENSMUSG00000047098
AA Change: T413A
| 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 |
unknown
Transcript: ENSMUST00000140178
AA Change: T314A
|
| SMART Domains |
Protein: ENSMUSP00000118215
Gene: ENSMUSG00000047098
AA Change: T314A
| 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 |
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000227664
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159845
|
| Meta Mutation Damage Score |
0.2934 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
94% (59/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankib1 |
A |
G |
5: 3,743,855 (GRCm39) |
S812P |
possibly damaging |
Het |
| Atp2c2 |
A |
G |
8: 120,453,093 (GRCm39) |
E159G |
probably benign |
Het |
| Atrn |
A |
G |
2: 130,821,889 (GRCm39) |
I861V |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,741,717 (GRCm39) |
V1053A |
possibly damaging |
Het |
| Cngb1 |
C |
A |
8: 95,975,608 (GRCm39) |
G629C |
probably damaging |
Het |
| Cntn5 |
A |
T |
9: 9,743,657 (GRCm39) |
F540Y |
probably damaging |
Het |
| Cpb1 |
A |
C |
3: 20,329,748 (GRCm39) |
|
probably null |
Het |
| Cyp4a14 |
A |
G |
4: 115,353,280 (GRCm39) |
Y11H |
probably benign |
Het |
| Dact2 |
A |
G |
17: 14,419,450 (GRCm39) |
S103P |
probably damaging |
Het |
| Dcstamp |
A |
T |
15: 39,618,317 (GRCm39) |
Y242F |
probably benign |
Het |
| Drd3 |
G |
T |
16: 43,641,670 (GRCm39) |
G329* |
probably null |
Het |
| Duxf1 |
T |
C |
10: 58,059,494 (GRCm39) |
|
probably benign |
Het |
| Dysf |
T |
A |
6: 83,985,945 (GRCm39) |
S17T |
probably benign |
Het |
| Eno1 |
A |
T |
4: 150,333,009 (GRCm39) |
K366N |
possibly damaging |
Het |
| Ffar2 |
C |
T |
7: 30,518,971 (GRCm39) |
V190I |
probably benign |
Het |
| Fkbp15 |
T |
C |
4: 62,242,429 (GRCm39) |
T508A |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 7,988,567 (GRCm39) |
V1165A |
unknown |
Het |
| Foxj3 |
A |
T |
4: 119,430,945 (GRCm39) |
|
probably null |
Het |
| Gabarap |
T |
C |
11: 69,882,630 (GRCm39) |
|
probably null |
Het |
| Gm19410 |
T |
A |
8: 36,270,736 (GRCm39) |
L1221* |
probably null |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Igf1r |
A |
T |
7: 67,850,998 (GRCm39) |
Y931F |
probably benign |
Het |
| Il23r |
A |
T |
6: 67,400,636 (GRCm39) |
S565T |
probably damaging |
Het |
| Ipo8 |
A |
T |
6: 148,717,995 (GRCm39) |
Y209* |
probably null |
Het |
| Jph2 |
C |
T |
2: 163,181,632 (GRCm39) |
G511R |
probably benign |
Het |
| Khdrbs1 |
C |
A |
4: 129,635,890 (GRCm39) |
D22Y |
probably damaging |
Het |
| Kif5b |
A |
T |
18: 6,212,562 (GRCm39) |
L754Q |
probably damaging |
Het |
| Ksr1 |
C |
T |
11: 78,927,320 (GRCm39) |
|
probably null |
Het |
| L3mbtl4 |
G |
T |
17: 69,084,918 (GRCm39) |
V610F |
probably benign |
Het |
| Lars2 |
A |
G |
9: 123,283,825 (GRCm39) |
T698A |
probably benign |
Het |
| Lonp1 |
A |
G |
17: 56,928,961 (GRCm39) |
V267A |
possibly damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,468,128 (GRCm39) |
D925E |
probably damaging |
Het |
| Lsg1 |
A |
G |
16: 30,393,386 (GRCm39) |
L187P |
possibly damaging |
Het |
| Mki67 |
A |
T |
7: 135,298,050 (GRCm39) |
V2328E |
possibly damaging |
Het |
| Mlh3 |
A |
G |
12: 85,315,271 (GRCm39) |
I305T |
probably damaging |
Het |
| Mtbp |
A |
G |
15: 55,421,016 (GRCm39) |
M1V |
probably null |
Het |
| Myadml2 |
C |
A |
11: 120,538,538 (GRCm39) |
C99F |
probably benign |
Het |
| Ncbp1 |
A |
G |
4: 46,150,703 (GRCm39) |
Y185C |
probably damaging |
Het |
| Ndufaf7 |
A |
T |
17: 79,250,739 (GRCm39) |
Q222L |
probably null |
Het |
| Nlrp4b |
A |
T |
7: 10,449,339 (GRCm39) |
Y147F |
probably benign |
Het |
| Or4c11c |
C |
T |
2: 88,661,613 (GRCm39) |
R51* |
probably null |
Het |
| Pet100 |
T |
C |
8: 3,672,370 (GRCm39) |
V15A |
probably benign |
Het |
| Pot1a |
A |
G |
6: 25,778,869 (GRCm39) |
V75A |
probably benign |
Het |
| Ptprs |
A |
T |
17: 56,725,935 (GRCm39) |
M1043K |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Rubcnl |
A |
T |
14: 75,287,635 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,462,530 (GRCm39) |
C4839S |
probably damaging |
Het |
| Scai |
A |
C |
2: 38,992,340 (GRCm39) |
D379E |
probably benign |
Het |
| Scd2 |
G |
T |
19: 44,288,198 (GRCm39) |
G197* |
probably null |
Het |
| Sdr39u1 |
A |
C |
14: 56,135,166 (GRCm39) |
I259S |
probably benign |
Het |
| Slco1a5 |
A |
T |
6: 142,187,906 (GRCm39) |
|
probably null |
Het |
| Sp1 |
A |
T |
15: 102,339,318 (GRCm39) |
T733S |
probably benign |
Het |
| Tecta |
A |
G |
9: 42,255,051 (GRCm39) |
S1711P |
probably damaging |
Het |
| Tedc1 |
G |
T |
12: 113,124,975 (GRCm39) |
W240L |
probably damaging |
Het |
| Trarg1 |
T |
C |
11: 76,571,355 (GRCm39) |
S124P |
probably damaging |
Het |
| Trim50 |
A |
G |
5: 135,382,454 (GRCm39) |
K102R |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,619,827 (GRCm39) |
Y278H |
probably damaging |
Het |
| Vinac1 |
T |
A |
2: 128,878,731 (GRCm39) |
D1065V |
unknown |
Het |
| Vmn2r109 |
A |
C |
17: 20,784,796 (GRCm39) |
|
probably null |
Het |
| Zbed5 |
T |
C |
5: 129,932,210 (GRCm39) |
S720P |
possibly damaging |
Het |
| Zc3h3 |
A |
G |
15: 75,711,304 (GRCm39) |
S386P |
probably damaging |
Het |
| Zscan4-ps1 |
C |
T |
7: 10,802,418 (GRCm39) |
|
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 |
|
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'- AGGTAACCTGTTCCTGGCCTTC -3'
(R):5'- TTTCTCTGGGTCTCCACAGG -3'
Sequencing Primer
(F):5'- AACCTCAAGTTATTCTCTGAACTCAC -3'
(R):5'- TGGGTCTCCACAGGAAGCAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation