Incidental Mutation 'R2164:Rnf31'
ID |
235378 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf31
|
Ensembl Gene |
ENSMUSG00000047098 |
Gene Name |
ring finger protein 31 |
Synonyms |
Paul, HOIP |
MMRRC Submission |
040167-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2164 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
55829199-55841131 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55829994 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 138
(E138G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019443
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019443]
[ENSMUST00000111378]
[ENSMUST00000137296]
[ENSMUST00000159687]
[ENSMUST00000161807]
|
AlphaFold |
Q924T7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019443
AA Change: E138G
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000019443 Gene: ENSMUSG00000047098 AA Change: E138G
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: E39G
|
SMART Domains |
Protein: ENSMUSP00000118215 Gene: ENSMUSG00000047098 AA Change: E39G
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: ENSMUST00000161573
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162700
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159845
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159297
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161027
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162496
|
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
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
CTGTAGGAAATCTTCAATGT |
CTGT |
11: 110,101,019 (GRCm39) |
|
probably null |
Het |
Adcy8 |
C |
T |
15: 64,792,783 (GRCm39) |
G58S |
probably benign |
Het |
Adgra2 |
T |
A |
8: 27,604,232 (GRCm39) |
L24* |
probably null |
Het |
Ampd2 |
C |
A |
3: 107,992,685 (GRCm39) |
|
probably benign |
Het |
Ankrd26 |
T |
G |
6: 118,502,752 (GRCm39) |
E806A |
probably damaging |
Het |
Apol9b |
A |
G |
15: 77,619,639 (GRCm39) |
D145G |
probably benign |
Het |
Ash1l |
T |
A |
3: 88,892,726 (GRCm39) |
M1535K |
probably benign |
Het |
Atf6 |
A |
G |
1: 170,622,304 (GRCm39) |
M439T |
probably damaging |
Het |
B3glct |
A |
T |
5: 149,677,621 (GRCm39) |
M417L |
probably damaging |
Het |
Cep192 |
A |
T |
18: 67,953,431 (GRCm39) |
T483S |
probably damaging |
Het |
Cep290 |
G |
A |
10: 100,354,657 (GRCm39) |
E914K |
probably damaging |
Het |
Chst15 |
C |
T |
7: 131,872,114 (GRCm39) |
A56T |
probably damaging |
Het |
Col27a1 |
A |
T |
4: 63,143,661 (GRCm39) |
T450S |
probably benign |
Het |
Cpsf2 |
A |
G |
12: 101,951,594 (GRCm39) |
N177S |
probably damaging |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Ctc1 |
C |
T |
11: 68,926,441 (GRCm39) |
A859V |
possibly damaging |
Het |
Dcakd |
A |
G |
11: 102,888,183 (GRCm39) |
Y134H |
possibly damaging |
Het |
Dctn3 |
G |
T |
4: 41,723,065 (GRCm39) |
Y22* |
probably null |
Het |
Dync2h1 |
T |
A |
9: 7,124,797 (GRCm39) |
D2025V |
probably damaging |
Het |
Dync2li1 |
T |
C |
17: 84,943,702 (GRCm39) |
S92P |
probably damaging |
Het |
Eml5 |
A |
G |
12: 98,853,356 (GRCm39) |
V81A |
probably damaging |
Het |
Espl1 |
C |
T |
15: 102,228,023 (GRCm39) |
R1625C |
probably damaging |
Het |
Fam181a |
T |
C |
12: 103,282,785 (GRCm39) |
V230A |
probably benign |
Het |
Fanci |
T |
A |
7: 79,045,743 (GRCm39) |
D28E |
probably benign |
Het |
Fmn1 |
A |
G |
2: 113,195,962 (GRCm39) |
N554S |
unknown |
Het |
Frem2 |
T |
C |
3: 53,444,751 (GRCm39) |
Y2460C |
probably damaging |
Het |
Fscb |
G |
A |
12: 64,520,567 (GRCm39) |
P300S |
probably damaging |
Het |
Gm28042 |
A |
G |
2: 119,867,229 (GRCm39) |
D438G |
probably benign |
Het |
Ldaf1 |
A |
G |
7: 119,719,462 (GRCm39) |
E157G |
possibly damaging |
Het |
Map1b |
C |
T |
13: 99,565,846 (GRCm39) |
V2292M |
unknown |
Het |
Nbas |
A |
G |
12: 13,380,647 (GRCm39) |
D635G |
possibly damaging |
Het |
Ncapg2 |
A |
G |
12: 116,414,095 (GRCm39) |
|
probably null |
Het |
Nrp2 |
A |
T |
1: 62,783,514 (GRCm39) |
E205V |
probably damaging |
Het |
Pcdhb3 |
A |
T |
18: 37,435,239 (GRCm39) |
T402S |
possibly damaging |
Het |
Phc1 |
T |
C |
6: 122,299,296 (GRCm39) |
N638D |
possibly damaging |
Het |
Plcb1 |
A |
G |
2: 135,188,250 (GRCm39) |
N781S |
possibly damaging |
Het |
Prkdc |
T |
A |
16: 15,523,071 (GRCm39) |
D1164E |
probably damaging |
Het |
Proser2 |
T |
A |
2: 6,105,506 (GRCm39) |
R353W |
possibly damaging |
Het |
Prxl2b |
T |
G |
4: 154,982,606 (GRCm39) |
Y56S |
probably damaging |
Het |
Ptges |
T |
A |
2: 30,782,708 (GRCm39) |
T115S |
probably benign |
Het |
Ptprk |
A |
T |
10: 28,436,138 (GRCm39) |
D833V |
probably damaging |
Het |
Pum1 |
T |
A |
4: 130,455,394 (GRCm39) |
L173* |
probably null |
Het |
Pum1 |
G |
T |
4: 130,455,395 (GRCm39) |
L269F |
probably damaging |
Het |
Rasgrp4 |
A |
G |
7: 28,838,470 (GRCm39) |
Y106C |
probably damaging |
Het |
Rbbp6 |
T |
A |
7: 122,598,697 (GRCm39) |
|
probably benign |
Het |
Rdh1 |
A |
G |
10: 127,596,041 (GRCm39) |
T79A |
possibly damaging |
Het |
Relb |
A |
C |
7: 19,347,686 (GRCm39) |
|
probably null |
Het |
Rnf122 |
G |
A |
8: 31,602,192 (GRCm39) |
W6* |
probably null |
Het |
Scaf8 |
G |
A |
17: 3,247,485 (GRCm39) |
R936Q |
probably damaging |
Het |
Scube3 |
T |
A |
17: 28,385,108 (GRCm39) |
V686D |
possibly damaging |
Het |
Snrnp27 |
A |
T |
6: 86,653,196 (GRCm39) |
C141S |
probably benign |
Het |
Spns2 |
C |
T |
11: 72,349,497 (GRCm39) |
V252M |
possibly damaging |
Het |
Tomm40l |
C |
T |
1: 171,047,703 (GRCm39) |
S220N |
probably damaging |
Het |
Trim17 |
A |
G |
11: 58,862,237 (GRCm39) |
D423G |
probably damaging |
Het |
Trpc6 |
A |
AT |
9: 8,610,466 (GRCm39) |
|
probably null |
Het |
Tut4 |
G |
A |
4: 108,360,226 (GRCm39) |
R481Q |
possibly damaging |
Het |
Uba5 |
A |
T |
9: 103,937,442 (GRCm39) |
M89K |
probably damaging |
Het |
Vav2 |
T |
C |
2: 27,163,718 (GRCm39) |
D628G |
probably damaging |
Het |
Vmn2r107 |
T |
C |
17: 20,595,904 (GRCm39) |
L819P |
probably damaging |
Het |
Vmn2r25 |
A |
T |
6: 123,816,518 (GRCm39) |
D354E |
possibly damaging |
Het |
Xrn1 |
A |
G |
9: 95,888,873 (GRCm39) |
E984G |
possibly damaging |
Het |
Zbtb17 |
T |
C |
4: 141,191,557 (GRCm39) |
V223A |
probably benign |
Het |
Zfp592 |
T |
C |
7: 80,691,186 (GRCm39) |
S1122P |
possibly damaging |
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 |
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'- AGGGGACTAGACCTGTGCTTAG -3'
(R):5'- TAACAGAAGCTTCCAGGCTGG -3'
Sequencing Primer
(F):5'- CTGTGCTTAGGGTTGACCAGAAAG -3'
(R):5'- TGCAGCAACAGAATTTCCCTG -3'
|
Posted On |
2014-10-01 |