Incidental Mutation 'IGL02893:Rnf31'
ID |
363270 |
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 # |
IGL02893
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
55829199-55841131 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 55836566 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Tyrosine
at position 800
(F800Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019443
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019443]
[ENSMUST00000130697]
[ENSMUST00000134863]
[ENSMUST00000137296]
|
AlphaFold |
Q924T7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000019443
AA Change: F800Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000019443 Gene: ENSMUSG00000047098 AA Change: F800Y
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: ENSMUST00000130697
|
SMART Domains |
Protein: ENSMUSP00000120359 Gene: ENSMUSG00000002325
Domain | Start | End | E-Value | Type |
IRF
|
5 |
117 |
1.19e-53 |
SMART |
low complexity region
|
158 |
182 |
N/A |
INTRINSIC |
low complexity region
|
185 |
194 |
N/A |
INTRINSIC |
IRF-3
|
211 |
377 |
1.13e-59 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133903
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134863
|
SMART Domains |
Protein: ENSMUSP00000120525 Gene: ENSMUSG00000002325
Domain | Start | End | E-Value | Type |
low complexity region
|
34 |
58 |
N/A |
INTRINSIC |
IRF
|
71 |
183 |
1.19e-53 |
SMART |
low complexity region
|
224 |
248 |
N/A |
INTRINSIC |
low complexity region
|
251 |
260 |
N/A |
INTRINSIC |
IRF-3
|
277 |
443 |
1.13e-59 |
SMART |
|
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: F645Y
|
SMART Domains |
Protein: ENSMUSP00000118215 Gene: ENSMUSG00000047098 AA Change: F645Y
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: ENSMUST00000227664
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227708
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,240,543 (GRCm39) |
V802A |
probably damaging |
Het |
Acsl6 |
G |
A |
11: 54,236,725 (GRCm39) |
V540M |
probably damaging |
Het |
Ahctf1 |
A |
C |
1: 179,603,576 (GRCm39) |
Y823* |
probably null |
Het |
Bbs1 |
T |
A |
19: 4,947,604 (GRCm39) |
K317* |
probably null |
Het |
Cand2 |
T |
C |
6: 115,768,921 (GRCm39) |
L577P |
probably damaging |
Het |
Cfap44 |
A |
T |
16: 44,237,180 (GRCm39) |
D449V |
probably damaging |
Het |
Col28a1 |
C |
T |
6: 8,103,534 (GRCm39) |
G421S |
probably damaging |
Het |
Dgkd |
A |
G |
1: 87,842,930 (GRCm39) |
|
probably benign |
Het |
Entpd1 |
T |
C |
19: 40,715,961 (GRCm39) |
V347A |
probably damaging |
Het |
Etl4 |
T |
A |
2: 20,765,021 (GRCm39) |
|
probably benign |
Het |
Fam20a |
G |
A |
11: 109,612,414 (GRCm39) |
A43V |
probably benign |
Het |
Fbxo9 |
A |
G |
9: 77,989,377 (GRCm39) |
|
probably benign |
Het |
Flg2 |
C |
T |
3: 93,110,920 (GRCm39) |
R983W |
unknown |
Het |
Gale |
T |
C |
4: 135,694,913 (GRCm39) |
V295A |
probably benign |
Het |
Gpr139 |
A |
T |
7: 118,744,366 (GRCm39) |
V73D |
probably damaging |
Het |
Hpca |
A |
T |
4: 129,012,215 (GRCm39) |
M107K |
probably damaging |
Het |
Igdcc4 |
G |
T |
9: 65,040,353 (GRCm39) |
V1002F |
probably damaging |
Het |
Irx4 |
T |
A |
13: 73,416,897 (GRCm39) |
L431H |
probably damaging |
Het |
Lca5l |
T |
C |
16: 95,980,113 (GRCm39) |
T6A |
probably benign |
Het |
Lrp4 |
C |
T |
2: 91,305,161 (GRCm39) |
R263C |
possibly damaging |
Het |
Meikin |
G |
A |
11: 54,308,584 (GRCm39) |
C394Y |
possibly damaging |
Het |
Mmp25 |
T |
C |
17: 23,863,025 (GRCm39) |
T129A |
probably damaging |
Het |
Mmp9 |
A |
G |
2: 164,790,988 (GRCm39) |
|
probably null |
Het |
Mtmr3 |
A |
T |
11: 4,457,632 (GRCm39) |
M171K |
possibly damaging |
Het |
Muc4 |
C |
T |
16: 32,570,466 (GRCm39) |
H509Y |
possibly damaging |
Het |
Nwd1 |
A |
T |
8: 73,394,129 (GRCm39) |
H464L |
probably damaging |
Het |
Or5k1 |
A |
G |
16: 58,618,020 (GRCm39) |
L63P |
probably damaging |
Het |
Paqr5 |
G |
A |
9: 61,876,150 (GRCm39) |
A128V |
probably benign |
Het |
Pcdhb10 |
G |
A |
18: 37,546,687 (GRCm39) |
V588M |
probably damaging |
Het |
Pip |
A |
G |
6: 41,824,596 (GRCm39) |
D28G |
probably damaging |
Het |
Sag |
T |
G |
1: 87,762,315 (GRCm39) |
S327A |
probably benign |
Het |
Sdf4 |
T |
C |
4: 156,080,985 (GRCm39) |
|
probably benign |
Het |
Slc10a6 |
A |
T |
5: 103,776,739 (GRCm39) |
D120E |
probably benign |
Het |
Spata31d1d |
T |
A |
13: 59,873,793 (GRCm39) |
K1247N |
possibly damaging |
Het |
Stam2 |
A |
G |
2: 52,604,914 (GRCm39) |
V207A |
probably damaging |
Het |
Sytl3 |
T |
C |
17: 7,000,373 (GRCm39) |
L181P |
probably damaging |
Het |
Tbc1d32 |
T |
C |
10: 55,893,799 (GRCm39) |
E1258G |
probably damaging |
Het |
Tmem63b |
T |
G |
17: 45,972,826 (GRCm39) |
H656P |
probably damaging |
Het |
Tmem69 |
T |
A |
4: 116,410,926 (GRCm39) |
M15L |
probably benign |
Het |
Tmprss7 |
T |
A |
16: 45,489,891 (GRCm39) |
I444F |
possibly damaging |
Het |
Ttbk2 |
C |
A |
2: 120,614,210 (GRCm39) |
R168L |
probably damaging |
Het |
Ttc28 |
A |
G |
5: 111,433,251 (GRCm39) |
Y2095C |
possibly damaging |
Het |
Ube3c |
A |
G |
5: 29,837,761 (GRCm39) |
Y643C |
probably damaging |
Het |
Ywhaq |
G |
A |
12: 21,446,410 (GRCm39) |
A152V |
probably damaging |
Het |
Zeb2 |
T |
A |
2: 44,886,619 (GRCm39) |
I813F |
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 |
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 |
2015-12-18 |