Incidental Mutation 'R4021:Wdr6'
ID |
313247 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr6
|
Ensembl Gene |
ENSMUSG00000066357 |
Gene Name |
WD repeat domain 6 |
Synonyms |
|
MMRRC Submission |
040955-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.341)
|
Stock # |
R4021 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
108449510-108455862 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 108452405 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 493
(W493R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070927
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006853]
[ENSMUST00000019183]
[ENSMUST00000068700]
[ENSMUST00000195249]
[ENSMUST00000193427]
|
AlphaFold |
Q99ME2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006853
|
SMART Domains |
Protein: ENSMUSP00000006853 Gene: ENSMUSG00000006675
Domain | Start | End | E-Value | Type |
transmembrane domain
|
61 |
83 |
N/A |
INTRINSIC |
P4Hc
|
143 |
460 |
1.26e-19 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000019183
|
SMART Domains |
Protein: ENSMUSP00000019183 Gene: ENSMUSG00000019039
Domain | Start | End | E-Value | Type |
low complexity region
|
288 |
301 |
N/A |
INTRINSIC |
low complexity region
|
386 |
397 |
N/A |
INTRINSIC |
DALR_1
|
399 |
538 |
2.09e-22 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068700
AA Change: W493R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000070927 Gene: ENSMUSG00000066357 AA Change: W493R
Domain | Start | End | E-Value | Type |
Blast:WD40
|
109 |
142 |
3e-6 |
BLAST |
WD40
|
198 |
237 |
1.42e-4 |
SMART |
WD40
|
247 |
284 |
7.28e-2 |
SMART |
WD40
|
286 |
326 |
1.72e-3 |
SMART |
Blast:WD40
|
336 |
375 |
3e-13 |
BLAST |
WD40
|
479 |
519 |
2.96e1 |
SMART |
low complexity region
|
537 |
552 |
N/A |
INTRINSIC |
WD40
|
559 |
598 |
1.77e2 |
SMART |
Blast:WD40
|
600 |
641 |
7e-20 |
BLAST |
Blast:WD40
|
764 |
815 |
2e-22 |
BLAST |
Blast:WD40
|
855 |
896 |
2e-11 |
BLAST |
WD40
|
900 |
949 |
1.48e1 |
SMART |
WD40
|
973 |
1015 |
5.52e-2 |
SMART |
WD40
|
1035 |
1076 |
3.98e0 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191674
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191881
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191897
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192518
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193044
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192651
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193846
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195249
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193427
|
SMART Domains |
Protein: ENSMUSP00000141748 Gene: ENSMUSG00000019039
Domain | Start | End | E-Value | Type |
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
DALR_1
|
68 |
171 |
1.3e-7 |
SMART |
|
Meta Mutation Damage Score |
0.9242 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.2%
|
Validation Efficiency |
100% (65/65) |
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. The encoded protein interacts with serine/threonine kinase 11, and is implicated in cell growth arrest. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700008P02Rik |
A |
G |
3: 6,685,148 (GRCm39) |
L102P |
probably benign |
Het |
Adcy4 |
C |
T |
14: 56,012,635 (GRCm39) |
|
probably null |
Het |
Adgrf5 |
A |
T |
17: 43,741,605 (GRCm39) |
|
probably benign |
Het |
Atp11a |
A |
G |
8: 12,892,938 (GRCm39) |
K643R |
probably benign |
Het |
Cacna2d2 |
C |
T |
9: 107,391,257 (GRCm39) |
T428M |
probably damaging |
Het |
Cdh22 |
T |
C |
2: 164,985,593 (GRCm39) |
D331G |
possibly damaging |
Het |
Chmp3 |
T |
C |
6: 71,551,222 (GRCm39) |
|
probably null |
Het |
Csnk2a1 |
C |
T |
2: 152,100,609 (GRCm39) |
T127M |
probably damaging |
Het |
Cyp2c55 |
T |
A |
19: 39,023,878 (GRCm39) |
|
probably null |
Het |
Ddias |
G |
T |
7: 92,510,686 (GRCm39) |
D105E |
possibly damaging |
Het |
Dnajb11 |
A |
G |
16: 22,688,196 (GRCm39) |
D238G |
probably damaging |
Het |
Dock7 |
T |
C |
4: 98,892,157 (GRCm39) |
|
probably null |
Het |
Dock9 |
T |
C |
14: 121,864,324 (GRCm39) |
K761E |
possibly damaging |
Het |
Entpd7 |
G |
A |
19: 43,679,597 (GRCm39) |
R50Q |
probably benign |
Het |
Fam107b |
G |
A |
2: 3,779,511 (GRCm39) |
R238Q |
probably damaging |
Het |
Fam186a |
G |
C |
15: 99,839,680 (GRCm39) |
T2188S |
possibly damaging |
Het |
Farsa |
A |
G |
8: 85,595,499 (GRCm39) |
T465A |
probably damaging |
Het |
Fibp |
T |
C |
19: 5,510,762 (GRCm39) |
|
probably null |
Het |
Flywch2 |
G |
A |
17: 23,996,013 (GRCm39) |
T128I |
possibly damaging |
Het |
Foxi2 |
A |
T |
7: 135,012,259 (GRCm39) |
D49V |
probably damaging |
Het |
Fstl5 |
A |
G |
3: 76,536,282 (GRCm39) |
T31A |
probably benign |
Het |
Gabbr2 |
G |
A |
4: 46,846,435 (GRCm39) |
T158I |
probably damaging |
Het |
Gbp4 |
T |
A |
5: 105,268,789 (GRCm39) |
R455W |
probably damaging |
Het |
Got2 |
T |
G |
8: 96,604,381 (GRCm39) |
D69A |
probably damaging |
Het |
Gpr63 |
T |
C |
4: 25,008,470 (GRCm39) |
F398S |
possibly damaging |
Het |
Gtf2h4 |
T |
C |
17: 35,981,556 (GRCm39) |
M186V |
probably benign |
Het |
Haus2 |
A |
T |
2: 120,446,411 (GRCm39) |
Q111L |
probably damaging |
Het |
Hexd |
T |
C |
11: 121,108,987 (GRCm39) |
|
probably null |
Het |
Igf2r |
T |
A |
17: 12,967,638 (GRCm39) |
N27I |
probably damaging |
Het |
Itgax |
T |
A |
7: 127,732,311 (GRCm39) |
|
probably null |
Het |
Krit1 |
T |
A |
5: 3,882,132 (GRCm39) |
I596K |
probably benign |
Het |
Lair1 |
A |
G |
7: 4,058,915 (GRCm39) |
|
probably null |
Het |
Lilra6 |
G |
T |
7: 3,914,417 (GRCm39) |
T276K |
probably benign |
Het |
Mast4 |
G |
A |
13: 102,875,829 (GRCm39) |
R1112* |
probably null |
Het |
Mrgprb1 |
A |
T |
7: 48,096,871 (GRCm39) |
I347N |
possibly damaging |
Het |
Mroh2b |
T |
A |
15: 4,954,582 (GRCm39) |
C682S |
possibly damaging |
Het |
Mtif3 |
T |
A |
5: 146,892,488 (GRCm39) |
R249S |
possibly damaging |
Het |
Mycbp2 |
C |
T |
14: 103,389,593 (GRCm39) |
E3406K |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,764,331 (GRCm39) |
H1315R |
probably benign |
Het |
Nlrp2 |
A |
G |
7: 5,328,011 (GRCm39) |
F681L |
probably benign |
Het |
Or2ag19 |
T |
A |
7: 106,444,226 (GRCm39) |
M136K |
probably damaging |
Het |
Or5l14 |
T |
A |
2: 87,793,066 (GRCm39) |
T57S |
possibly damaging |
Het |
Pear1 |
T |
C |
3: 87,663,529 (GRCm39) |
N390D |
possibly damaging |
Het |
Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
Rnf17 |
C |
T |
14: 56,697,458 (GRCm39) |
H451Y |
probably damaging |
Het |
Sag |
A |
T |
1: 87,749,027 (GRCm39) |
|
probably null |
Het |
Septin4 |
A |
G |
11: 87,458,106 (GRCm39) |
E160G |
probably damaging |
Het |
Slc22a2 |
T |
C |
17: 12,803,376 (GRCm39) |
L70P |
probably damaging |
Het |
Slc32a1 |
C |
T |
2: 158,453,152 (GRCm39) |
|
probably benign |
Het |
Spag17 |
A |
T |
3: 99,956,546 (GRCm39) |
I881F |
probably benign |
Het |
Taar7a |
G |
T |
10: 23,869,284 (GRCm39) |
N32K |
probably benign |
Het |
Tbck |
C |
A |
3: 132,432,895 (GRCm39) |
T435K |
probably damaging |
Het |
Tril |
T |
G |
6: 53,796,004 (GRCm39) |
D406A |
probably damaging |
Het |
Tshz2 |
G |
A |
2: 169,727,782 (GRCm39) |
D324N |
probably damaging |
Het |
Vps13d |
A |
G |
4: 144,801,631 (GRCm39) |
V2349A |
possibly damaging |
Het |
Wdr72 |
G |
A |
9: 74,058,875 (GRCm39) |
V323I |
probably benign |
Het |
Zfp488 |
T |
A |
14: 33,693,110 (GRCm39) |
M18L |
probably benign |
Het |
Zic4 |
A |
G |
9: 91,261,089 (GRCm39) |
T108A |
probably benign |
Het |
Znrf3 |
T |
C |
11: 5,231,278 (GRCm39) |
D745G |
possibly damaging |
Het |
|
Other mutations in Wdr6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01548:Wdr6
|
APN |
9 |
108,452,096 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL01757:Wdr6
|
APN |
9 |
108,453,427 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL02096:Wdr6
|
APN |
9 |
108,453,752 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02577:Wdr6
|
APN |
9 |
108,453,140 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02625:Wdr6
|
APN |
9 |
108,452,704 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02820:Wdr6
|
APN |
9 |
108,455,743 (GRCm39) |
missense |
probably benign |
0.28 |
IGL03250:Wdr6
|
APN |
9 |
108,450,396 (GRCm39) |
missense |
possibly damaging |
0.95 |
PIT4802001:Wdr6
|
UTSW |
9 |
108,451,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R0038:Wdr6
|
UTSW |
9 |
108,450,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R0153:Wdr6
|
UTSW |
9 |
108,452,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R0378:Wdr6
|
UTSW |
9 |
108,453,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R0420:Wdr6
|
UTSW |
9 |
108,450,300 (GRCm39) |
missense |
probably benign |
0.41 |
R1620:Wdr6
|
UTSW |
9 |
108,451,854 (GRCm39) |
missense |
possibly damaging |
0.51 |
R1753:Wdr6
|
UTSW |
9 |
108,452,363 (GRCm39) |
missense |
probably damaging |
0.99 |
R1844:Wdr6
|
UTSW |
9 |
108,453,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R1881:Wdr6
|
UTSW |
9 |
108,450,378 (GRCm39) |
splice site |
probably null |
|
R1987:Wdr6
|
UTSW |
9 |
108,453,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R2029:Wdr6
|
UTSW |
9 |
108,452,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R2139:Wdr6
|
UTSW |
9 |
108,451,322 (GRCm39) |
missense |
probably benign |
0.00 |
R3900:Wdr6
|
UTSW |
9 |
108,452,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R4909:Wdr6
|
UTSW |
9 |
108,450,187 (GRCm39) |
missense |
probably benign |
0.28 |
R5073:Wdr6
|
UTSW |
9 |
108,451,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R5748:Wdr6
|
UTSW |
9 |
108,452,981 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6039:Wdr6
|
UTSW |
9 |
108,450,994 (GRCm39) |
frame shift |
probably null |
|
R6039:Wdr6
|
UTSW |
9 |
108,450,994 (GRCm39) |
frame shift |
probably null |
|
R6254:Wdr6
|
UTSW |
9 |
108,452,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R6724:Wdr6
|
UTSW |
9 |
108,452,093 (GRCm39) |
missense |
probably benign |
0.11 |
R7134:Wdr6
|
UTSW |
9 |
108,450,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R7248:Wdr6
|
UTSW |
9 |
108,453,238 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7296:Wdr6
|
UTSW |
9 |
108,451,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R7388:Wdr6
|
UTSW |
9 |
108,451,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R7443:Wdr6
|
UTSW |
9 |
108,451,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R7467:Wdr6
|
UTSW |
9 |
108,450,201 (GRCm39) |
missense |
probably benign |
0.14 |
R7672:Wdr6
|
UTSW |
9 |
108,450,947 (GRCm39) |
missense |
probably benign |
0.06 |
R7699:Wdr6
|
UTSW |
9 |
108,453,560 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7700:Wdr6
|
UTSW |
9 |
108,453,560 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8559:Wdr6
|
UTSW |
9 |
108,452,593 (GRCm39) |
missense |
probably benign |
0.34 |
R9076:Wdr6
|
UTSW |
9 |
108,451,627 (GRCm39) |
missense |
probably benign |
0.18 |
R9273:Wdr6
|
UTSW |
9 |
108,450,691 (GRCm39) |
missense |
probably benign |
0.00 |
R9486:Wdr6
|
UTSW |
9 |
108,453,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R9488:Wdr6
|
UTSW |
9 |
108,453,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R9679:Wdr6
|
UTSW |
9 |
108,450,358 (GRCm39) |
missense |
probably benign |
0.27 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTAGAGACGGGGCCTATTC -3'
(R):5'- TCGAGCAGAAACTGTTCCAG -3'
Sequencing Primer
(F):5'- TGTTGGGACACTCTCAGACC -3'
(R):5'- ACTGTTCCAGGGGAAGGTGC -3'
|
Posted On |
2015-04-30 |