Incidental Mutation 'R3620:Wdr31'
| ID |
268590 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr31
|
| Ensembl Gene |
ENSMUSG00000028391 |
| Gene Name |
WD repeat domain 31 |
| Synonyms |
5430402I10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R3620 (G1)
|
| Quality Score |
215 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
62366890-62389133 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62375701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 251
(F251L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030087]
[ENSMUST00000107452]
[ENSMUST00000120095]
[ENSMUST00000132263]
|
| AlphaFold |
Q9JHB4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030087
AA Change: F252L
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000030087
Gene: ENSMUSG00000028391
AA Change: F252L
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
51 |
89 |
8.88e0 |
SMART |
|
WD40
|
92 |
131 |
6.38e-7 |
SMART |
|
WD40
|
135 |
174 |
2.82e-8 |
SMART |
|
WD40
|
177 |
216 |
5.31e-4 |
SMART |
|
Blast:WD40
|
219 |
263 |
2e-10 |
BLAST |
|
WD40
|
267 |
310 |
1.03e-1 |
SMART |
|
Blast:WD40
|
313 |
352 |
2e-15 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107452
AA Change: F251L
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103076
Gene: ENSMUSG00000028391
AA Change: F251L
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
50 |
88 |
8.88e0 |
SMART |
|
WD40
|
91 |
130 |
6.38e-7 |
SMART |
|
WD40
|
134 |
173 |
2.82e-8 |
SMART |
|
WD40
|
176 |
215 |
5.31e-4 |
SMART |
|
Blast:WD40
|
218 |
262 |
2e-10 |
BLAST |
|
WD40
|
266 |
309 |
1.03e-1 |
SMART |
|
Blast:WD40
|
312 |
351 |
2e-15 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120095
AA Change: F252L
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112719
Gene: ENSMUSG00000028391
AA Change: F252L
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
51 |
89 |
8.88e0 |
SMART |
|
WD40
|
92 |
131 |
6.38e-7 |
SMART |
|
WD40
|
135 |
174 |
2.82e-8 |
SMART |
|
WD40
|
177 |
216 |
5.31e-4 |
SMART |
|
Blast:WD40
|
219 |
263 |
2e-10 |
BLAST |
|
WD40
|
267 |
310 |
1.03e-1 |
SMART |
|
Blast:WD40
|
313 |
352 |
2e-15 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132263
AA Change: F91L
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000120684
Gene: ENSMUSG00000028391
AA Change: F91L
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
16 |
55 |
5.31e-4 |
SMART |
|
Blast:WD40
|
58 |
100 |
3e-9 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146108
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149281
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153615
|
| Meta Mutation Damage Score |
0.0872 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,226,864 (GRCm39) |
M473T |
probably benign |
Het |
| Asxl1 |
C |
A |
2: 153,199,075 (GRCm39) |
R76S |
probably damaging |
Het |
| Bhlhe41 |
C |
A |
6: 145,808,733 (GRCm39) |
G360C |
possibly damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,380,227 (GRCm39) |
I201T |
probably benign |
Het |
| Ccng1 |
T |
C |
11: 40,642,992 (GRCm39) |
T152A |
probably benign |
Het |
| Cep192 |
T |
C |
18: 67,962,928 (GRCm39) |
V648A |
probably benign |
Het |
| Cldn16 |
T |
A |
16: 26,296,302 (GRCm39) |
F93I |
possibly damaging |
Het |
| Csmd1 |
T |
C |
8: 16,042,684 (GRCm39) |
S2350G |
probably benign |
Het |
| Enpp6 |
T |
C |
8: 47,518,540 (GRCm39) |
W223R |
probably benign |
Het |
| Fah |
T |
C |
7: 84,238,159 (GRCm39) |
|
probably null |
Het |
| Fat2 |
A |
T |
11: 55,147,521 (GRCm39) |
V3907D |
probably damaging |
Het |
| Fsip2 |
C |
A |
2: 82,810,602 (GRCm39) |
T2307K |
probably benign |
Het |
| Gcg |
T |
C |
2: 62,307,279 (GRCm39) |
E94G |
probably damaging |
Het |
| Gramd1b |
C |
A |
9: 40,366,842 (GRCm39) |
R42L |
probably benign |
Het |
| H2bc9 |
C |
A |
13: 23,727,324 (GRCm39) |
V67L |
probably benign |
Het |
| Hdc |
T |
A |
2: 126,458,187 (GRCm39) |
Y45F |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Igsf10 |
T |
G |
3: 59,243,752 (GRCm39) |
D194A |
probably damaging |
Het |
| Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
| Lrpprc |
A |
T |
17: 85,077,452 (GRCm39) |
C412S |
probably benign |
Het |
| Mga |
T |
A |
2: 119,747,149 (GRCm39) |
D433E |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,369,468 (GRCm39) |
S743C |
possibly damaging |
Het |
| Myo15b |
T |
G |
11: 115,762,013 (GRCm39) |
L1176R |
possibly damaging |
Het |
| Ndor1 |
T |
C |
2: 25,138,047 (GRCm39) |
Q526R |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,362,508 (GRCm39) |
I1429T |
probably damaging |
Het |
| Or1d2 |
T |
A |
11: 74,256,050 (GRCm39) |
L185Q |
probably damaging |
Het |
| Or4c126 |
T |
C |
2: 89,824,196 (GRCm39) |
I153T |
probably damaging |
Het |
| Or4k38 |
T |
A |
2: 111,165,689 (GRCm39) |
I245L |
probably benign |
Het |
| Otogl |
T |
C |
10: 107,710,232 (GRCm39) |
D619G |
probably damaging |
Het |
| Pa2g4 |
C |
G |
10: 128,399,464 (GRCm39) |
E67Q |
probably damaging |
Het |
| Pnpla1 |
C |
T |
17: 29,096,362 (GRCm39) |
A147V |
probably damaging |
Het |
| Prdm13 |
A |
G |
4: 21,683,532 (GRCm39) |
Y143H |
unknown |
Het |
| Rad23a |
A |
G |
8: 85,567,193 (GRCm39) |
M1T |
probably null |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Slc10a2 |
A |
T |
8: 5,154,909 (GRCm39) |
I92N |
probably damaging |
Het |
| Slc24a4 |
T |
C |
12: 102,185,222 (GRCm39) |
F111L |
probably damaging |
Het |
| Sox11 |
T |
C |
12: 27,391,735 (GRCm39) |
T225A |
probably benign |
Het |
| Thbs1 |
T |
C |
2: 117,951,640 (GRCm39) |
V820A |
probably benign |
Het |
| Unc45a |
G |
T |
7: 79,983,799 (GRCm39) |
N332K |
possibly damaging |
Het |
| Vmn1r159 |
A |
C |
7: 22,542,258 (GRCm39) |
I258S |
possibly damaging |
Het |
| Wdr43 |
C |
T |
17: 71,957,601 (GRCm39) |
T530M |
probably benign |
Het |
| Zfp445 |
C |
T |
9: 122,681,833 (GRCm39) |
A703T |
probably benign |
Het |
|
| Other mutations in Wdr31 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00970:Wdr31
|
APN |
4 |
62,375,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01315:Wdr31
|
APN |
4 |
62,374,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02345:Wdr31
|
APN |
4 |
62,377,083 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03192:Wdr31
|
APN |
4 |
62,372,149 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0045:Wdr31
|
UTSW |
4 |
62,382,270 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0257:Wdr31
|
UTSW |
4 |
62,378,755 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0486:Wdr31
|
UTSW |
4 |
62,372,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1983:Wdr31
|
UTSW |
4 |
62,378,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2081:Wdr31
|
UTSW |
4 |
62,374,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4256:Wdr31
|
UTSW |
4 |
62,375,675 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4303:Wdr31
|
UTSW |
4 |
62,378,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4562:Wdr31
|
UTSW |
4 |
62,372,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5747:Wdr31
|
UTSW |
4 |
62,381,637 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5986:Wdr31
|
UTSW |
4 |
62,374,113 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6170:Wdr31
|
UTSW |
4 |
62,381,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6887:Wdr31
|
UTSW |
4 |
62,375,802 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7126:Wdr31
|
UTSW |
4 |
62,381,666 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7469:Wdr31
|
UTSW |
4 |
62,375,768 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7653:Wdr31
|
UTSW |
4 |
62,381,666 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7727:Wdr31
|
UTSW |
4 |
62,378,873 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8255:Wdr31
|
UTSW |
4 |
62,381,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8704:Wdr31
|
UTSW |
4 |
62,380,442 (GRCm39) |
missense |
probably benign |
|
|
R9798:Wdr31
|
UTSW |
4 |
62,381,651 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCAAAGGAAGCCACTGGAG -3'
(R):5'- CTGACTGGCAGCAAAGAGTCAG -3'
Sequencing Primer
(F):5'- AAGCCACTGGAGTGCAC -3'
(R):5'- GCAAAGAGTCAGGCTTTTCC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation