Incidental Mutation 'R0678:Rnf31'
| ID |
61712 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf31
|
| Ensembl Gene |
ENSMUSG00000047098 |
| Gene Name |
ring finger protein 31 |
| Synonyms |
Paul, HOIP |
| MMRRC Submission |
038863-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0678 (G1)
|
| Quality Score |
187 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
55829199-55841131 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 55839170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 66
(Y66*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019443]
[ENSMUST00000130697]
[ENSMUST00000134863]
[ENSMUST00000137296]
[ENSMUST00000138037]
|
| AlphaFold |
Q924T7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000019443
AA Change: Y927*
|
| SMART Domains |
Protein: ENSMUSP00000019443
Gene: ENSMUSG00000047098
AA Change: Y927*
| 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: ENSMUST00000136109
|
| 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 benign
Transcript: ENSMUST00000138037
|
| SMART Domains |
Protein: ENSMUSP00000119477
Gene: ENSMUSG00000002325
| Domain | Start | End | E-Value | Type |
|---|
|
IRF
|
23 |
135 |
1.19e-53 |
SMART |
|
low complexity region
|
176 |
200 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
212 |
N/A |
INTRINSIC |
|
IRF-3
|
229 |
395 |
1.13e-59 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000140178
AA Change: Y772*
|
| SMART Domains |
Protein: ENSMUSP00000118215
Gene: ENSMUSG00000047098
AA Change: Y772*
| 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: ENSMUST00000145680
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000227708
AA Change: Y66*
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Egfl7 |
C |
T |
2: 26,480,952 (GRCm39) |
R155C |
probably benign |
Het |
| Fat4 |
T |
C |
3: 38,943,843 (GRCm39) |
I912T |
probably damaging |
Het |
| H2-M5 |
A |
G |
17: 37,300,034 (GRCm39) |
F47L |
possibly damaging |
Het |
| H2-T24 |
A |
T |
17: 36,328,333 (GRCm39) |
F50Y |
probably damaging |
Het |
| Hif1a |
A |
G |
12: 73,990,965 (GRCm39) |
|
probably null |
Het |
| Ints11 |
T |
C |
4: 155,972,210 (GRCm39) |
I405T |
probably damaging |
Het |
| Kmt2d |
A |
T |
15: 98,748,294 (GRCm39) |
|
probably benign |
Het |
| Pld1 |
T |
A |
3: 28,174,933 (GRCm39) |
V857D |
probably damaging |
Het |
| Ptgr3 |
A |
G |
18: 84,113,287 (GRCm39) |
E321G |
probably benign |
Het |
| Rab11fip3 |
G |
A |
17: 26,287,821 (GRCm39) |
P111S |
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,781,692 (GRCm39) |
I35N |
possibly damaging |
Het |
| Sec31a |
T |
C |
5: 100,555,084 (GRCm39) |
I45M |
possibly damaging |
Het |
| Sele |
T |
C |
1: 163,882,298 (GRCm39) |
|
probably null |
Het |
| Serpina3i |
G |
T |
12: 104,232,978 (GRCm39) |
|
probably null |
Het |
| Sp6 |
T |
A |
11: 96,912,607 (GRCm39) |
W107R |
probably damaging |
Het |
| Sphkap |
A |
T |
1: 83,256,349 (GRCm39) |
W467R |
probably benign |
Het |
| Thbs1 |
T |
C |
2: 117,953,387 (GRCm39) |
F935L |
probably damaging |
Het |
| Vmn2r8 |
T |
A |
5: 108,948,412 (GRCm39) |
H492L |
probably benign |
Het |
| Xrcc2 |
A |
G |
5: 25,903,261 (GRCm39) |
S37P |
possibly damaging |
Het |
| Zfand1 |
T |
A |
3: 10,413,577 (GRCm39) |
I31L |
probably benign |
Het |
| Zfr |
G |
A |
15: 12,184,171 (GRCm39) |
D1058N |
probably 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAACGCCTTTTACGCCAAGAATG -3'
(R):5'- TCTGACACTTACCTCCAGGGACTG -3'
Sequencing Primer
(F):5'- CCTTTTACGCCAAGAATGTGAGTG -3'
(R):5'- AGCTGGAGGCTCTGTATTAAAC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation