Incidental Mutation 'R2139:Wdr6'
| ID |
236050 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr6
|
| Ensembl Gene |
ENSMUSG00000066357 |
| Gene Name |
WD repeat domain 6 |
| Synonyms |
|
| MMRRC Submission |
040142-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.341)
|
| Stock # |
R2139 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
108449510-108455862 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108451322 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 854
(I854V)
|
| 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 benign
Transcript: ENSMUST00000068700
AA Change: I854V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000070927
Gene: ENSMUSG00000066357
AA Change: I854V
| 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: ENSMUST00000191881
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191897
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192518
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192651
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193846
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193193
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193044
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
A |
T |
9: 46,215,593 (GRCm39) |
F318I |
probably damaging |
Het |
| Bfsp2 |
T |
C |
9: 103,327,074 (GRCm39) |
K221R |
probably benign |
Het |
| Cacna1b |
A |
C |
2: 24,569,485 (GRCm39) |
M813R |
probably benign |
Het |
| Chaf1a |
T |
C |
17: 56,372,226 (GRCm39) |
L798P |
probably damaging |
Het |
| Chd8 |
G |
A |
14: 52,474,428 (GRCm39) |
T201I |
probably benign |
Het |
| Col23a1 |
T |
C |
11: 51,464,861 (GRCm39) |
S436P |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,340,978 (GRCm39) |
I2248V |
probably benign |
Het |
| Cyp4f39 |
A |
G |
17: 32,710,163 (GRCm39) |
I440M |
probably benign |
Het |
| Dhcr24 |
G |
T |
4: 106,429,499 (GRCm39) |
E191* |
probably null |
Het |
| Dlg5 |
T |
C |
14: 24,220,612 (GRCm39) |
D522G |
probably damaging |
Het |
| Dnaja4 |
A |
T |
9: 54,616,506 (GRCm39) |
M170L |
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,567,895 (GRCm39) |
S1441P |
possibly damaging |
Het |
| Efcab3 |
C |
T |
11: 104,642,737 (GRCm39) |
T1120I |
possibly damaging |
Het |
| Egr2 |
T |
A |
10: 67,376,702 (GRCm39) |
S383T |
probably damaging |
Het |
| Elovl1 |
A |
G |
4: 118,288,303 (GRCm39) |
D94G |
probably damaging |
Het |
| Erbb4 |
A |
G |
1: 68,385,788 (GRCm39) |
V267A |
probably damaging |
Het |
| Esp38 |
T |
A |
17: 40,264,275 (GRCm39) |
I11N |
probably damaging |
Het |
| Esrrb |
T |
C |
12: 86,468,740 (GRCm39) |
|
probably null |
Het |
| Fbxo24 |
A |
T |
5: 137,611,327 (GRCm39) |
S488T |
probably damaging |
Het |
| Fgfr1 |
T |
G |
8: 26,060,882 (GRCm39) |
V618G |
probably damaging |
Het |
| Gak |
C |
T |
5: 108,754,743 (GRCm39) |
|
probably null |
Het |
| Gpr61 |
A |
T |
3: 108,058,077 (GRCm39) |
C195S |
probably damaging |
Het |
| Greb1l |
A |
C |
18: 10,555,011 (GRCm39) |
N1686H |
probably damaging |
Het |
| Hapln4 |
T |
C |
8: 70,540,788 (GRCm39) |
F274L |
probably benign |
Het |
| Hoxc10 |
A |
T |
15: 102,875,912 (GRCm39) |
Q207L |
probably benign |
Het |
| Hspa12a |
A |
G |
19: 58,787,914 (GRCm39) |
V636A |
probably benign |
Het |
| Il22ra2 |
T |
A |
10: 19,508,618 (GRCm39) |
F215L |
probably benign |
Het |
| Il36b |
A |
G |
2: 24,044,672 (GRCm39) |
N24S |
probably benign |
Het |
| Kank1 |
G |
A |
19: 25,389,117 (GRCm39) |
G930D |
probably benign |
Het |
| Kif13a |
T |
C |
13: 46,905,945 (GRCm39) |
D666G |
possibly damaging |
Het |
| Krt86 |
A |
T |
15: 101,371,639 (GRCm39) |
I70F |
probably benign |
Het |
| Lgi4 |
A |
T |
7: 30,762,548 (GRCm39) |
I112F |
probably damaging |
Het |
| Lrrc8c |
T |
G |
5: 105,754,558 (GRCm39) |
I111S |
probably damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,862,753 (GRCm39) |
N600S |
probably damaging |
Het |
| Mbd3l2 |
A |
T |
9: 18,356,254 (GRCm39) |
D193V |
probably damaging |
Het |
| Mroh5 |
T |
A |
15: 73,661,940 (GRCm39) |
D417V |
probably damaging |
Het |
| Ms4a18 |
A |
T |
19: 10,974,695 (GRCm39) |
V332D |
possibly damaging |
Het |
| Mtarc1 |
G |
A |
1: 184,527,632 (GRCm39) |
T276I |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,581,599 (GRCm39) |
I2488N |
unknown |
Het |
| Myrf |
C |
G |
19: 10,193,831 (GRCm39) |
A532P |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,688,996 (GRCm39) |
N427S |
probably benign |
Het |
| Neb |
T |
C |
2: 52,102,600 (GRCm39) |
S4315G |
probably damaging |
Het |
| Nyap2 |
A |
G |
1: 81,218,983 (GRCm39) |
D335G |
probably damaging |
Het |
| Olfm4 |
T |
C |
14: 80,251,755 (GRCm39) |
L225P |
probably benign |
Het |
| Or10z1 |
A |
T |
1: 174,078,302 (GRCm39) |
|
probably null |
Het |
| Or4c104 |
T |
A |
2: 88,586,437 (GRCm39) |
N194I |
probably damaging |
Het |
| Or51ac3 |
A |
T |
7: 103,213,961 (GRCm39) |
I175K |
possibly damaging |
Het |
| Or8s2 |
T |
C |
15: 98,276,145 (GRCm39) |
N282S |
probably damaging |
Het |
| Pcdhac2 |
T |
G |
18: 37,279,139 (GRCm39) |
Y706* |
probably null |
Het |
| Pgbd1 |
A |
G |
13: 21,607,190 (GRCm39) |
S335P |
probably damaging |
Het |
| Pkhd1l1 |
A |
C |
15: 44,393,214 (GRCm39) |
I1850L |
possibly damaging |
Het |
| Pogz |
T |
C |
3: 94,778,318 (GRCm39) |
V304A |
possibly damaging |
Het |
| Rap1a |
T |
C |
3: 105,646,856 (GRCm39) |
I100V |
probably damaging |
Het |
| Slc4a4 |
A |
T |
5: 89,194,123 (GRCm39) |
K201M |
probably damaging |
Het |
| Slc6a1 |
T |
C |
6: 114,281,022 (GRCm39) |
F8S |
possibly damaging |
Het |
| St18 |
T |
G |
1: 6,880,839 (GRCm39) |
M444R |
possibly damaging |
Het |
| Syna |
G |
T |
5: 134,588,106 (GRCm39) |
S281* |
probably null |
Het |
| Tgm1 |
A |
G |
14: 55,947,000 (GRCm39) |
V336A |
probably damaging |
Het |
| Tle6 |
G |
T |
10: 81,429,868 (GRCm39) |
T400K |
probably damaging |
Het |
| Tmem181a |
T |
C |
17: 6,348,481 (GRCm39) |
W328R |
probably damaging |
Het |
| Trim7 |
T |
C |
11: 48,729,721 (GRCm39) |
F193L |
probably benign |
Het |
| Txndc16 |
A |
T |
14: 45,410,046 (GRCm39) |
M178K |
probably damaging |
Het |
| Unc80 |
C |
T |
1: 66,560,740 (GRCm39) |
H823Y |
possibly damaging |
Het |
| Vmn1r74 |
A |
G |
7: 11,581,243 (GRCm39) |
Y181C |
probably damaging |
Het |
| Vmn2r56 |
T |
A |
7: 12,446,890 (GRCm39) |
K421* |
probably null |
Het |
| Vwa7 |
T |
G |
17: 35,242,406 (GRCm39) |
S503R |
probably benign |
Het |
| Washc5 |
G |
A |
15: 59,221,991 (GRCm39) |
T135M |
probably damaging |
Het |
| Zfp507 |
A |
G |
7: 35,493,148 (GRCm39) |
C632R |
probably 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 |
|
R3900:Wdr6
|
UTSW |
9 |
108,452,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4021:Wdr6
|
UTSW |
9 |
108,452,405 (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'- CAGGCCTATCGTTGTCAAGC -3'
(R):5'- ACCATATCTCCTCTGTGCGAG -3'
Sequencing Primer
(F):5'- TCGTTGTCAAGCTCACAAATAGC -3'
(R):5'- ATACTCGACCAGGGCTCACTG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation