Incidental Mutation 'R4963:Wdhd1'
| ID |
383747 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdhd1
|
| Ensembl Gene |
ENSMUSG00000037572 |
| Gene Name |
WD repeat and HMG-box DNA binding protein 1 |
| Synonyms |
AND-1, D630024B06Rik |
| MMRRC Submission |
042560-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4963 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
47478401-47514314 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47506146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 256
(V256A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111790]
[ENSMUST00000111791]
[ENSMUST00000111792]
[ENSMUST00000187531]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111790
AA Change: V256A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000107420
Gene: ENSMUSG00000037572
AA Change: V256A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
41 |
8.62e-4 |
SMART |
|
WD40
|
83 |
122 |
8.91e-1 |
SMART |
|
WD40
|
125 |
164 |
1.67e-10 |
SMART |
|
WD40
|
217 |
258 |
6.19e-1 |
SMART |
|
WD40
|
261 |
301 |
5.11e1 |
SMART |
|
low complexity region
|
353 |
363 |
N/A |
INTRINSIC |
|
Pfam:DUF3639
|
525 |
551 |
2.4e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111791
AA Change: V256A
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107421
Gene: ENSMUSG00000037572
AA Change: V256A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
41 |
8.62e-4 |
SMART |
|
WD40
|
83 |
122 |
8.91e-1 |
SMART |
|
WD40
|
125 |
164 |
1.67e-10 |
SMART |
|
WD40
|
217 |
258 |
6.19e-1 |
SMART |
|
WD40
|
261 |
301 |
5.11e1 |
SMART |
|
low complexity region
|
353 |
363 |
N/A |
INTRINSIC |
|
Pfam:Mcl1_mid
|
424 |
708 |
1.6e-103 |
PFAM |
|
coiled coil region
|
802 |
834 |
N/A |
INTRINSIC |
|
HMG
|
1003 |
1073 |
2.64e-12 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111792
AA Change: V256A
PolyPhen 2
Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000107422
Gene: ENSMUSG00000037572
AA Change: V256A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
41 |
8.62e-4 |
SMART |
|
WD40
|
83 |
122 |
8.91e-1 |
SMART |
|
WD40
|
125 |
164 |
1.67e-10 |
SMART |
|
WD40
|
217 |
258 |
6.19e-1 |
SMART |
|
WD40
|
261 |
301 |
5.11e1 |
SMART |
|
low complexity region
|
316 |
326 |
N/A |
INTRINSIC |
|
Pfam:DUF3639
|
488 |
514 |
7.1e-13 |
PFAM |
|
coiled coil region
|
765 |
797 |
N/A |
INTRINSIC |
|
HMG
|
966 |
1036 |
2.64e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122699
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139124
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187531
AA Change: V256A
PolyPhen 2
Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141182
Gene: ENSMUSG00000037572
AA Change: V256A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
41 |
8.62e-4 |
SMART |
|
WD40
|
83 |
122 |
8.91e-1 |
SMART |
|
WD40
|
125 |
164 |
1.67e-10 |
SMART |
|
WD40
|
217 |
258 |
6.19e-1 |
SMART |
|
WD40
|
261 |
301 |
5.11e1 |
SMART |
|
low complexity region
|
353 |
363 |
N/A |
INTRINSIC |
|
Pfam:DUF3639
|
525 |
551 |
3e-13 |
PFAM |
|
coiled coil region
|
802 |
834 |
N/A |
INTRINSIC |
|
HMG
|
1003 |
1073 |
2.64e-12 |
SMART |
|
| Meta Mutation Damage Score |
0.0863 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
97% (74/76) |
| 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 multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
T |
17: 48,470,582 (GRCm39) |
I133N |
probably benign |
Het |
| Abca15 |
T |
C |
7: 119,960,142 (GRCm39) |
S642P |
probably damaging |
Het |
| Abcg5 |
G |
T |
17: 84,967,569 (GRCm39) |
Y410* |
probably null |
Het |
| Anapc7 |
T |
A |
5: 122,560,669 (GRCm39) |
M10K |
probably damaging |
Het |
| Ank2 |
G |
A |
3: 126,825,745 (GRCm39) |
T418M |
probably benign |
Het |
| Arhgap17 |
T |
C |
7: 122,907,583 (GRCm39) |
R260G |
possibly damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,694,051 (GRCm39) |
T381A |
probably damaging |
Het |
| Cep89 |
T |
G |
7: 35,102,577 (GRCm39) |
S97A |
probably benign |
Het |
| Cyp2j11 |
T |
C |
4: 96,204,619 (GRCm39) |
D309G |
probably damaging |
Het |
| Dcbld2 |
T |
C |
16: 58,286,145 (GRCm39) |
I768T |
probably benign |
Het |
| Defa41 |
C |
T |
8: 21,691,774 (GRCm39) |
S52F |
probably damaging |
Het |
| Dgke |
A |
G |
11: 88,941,628 (GRCm39) |
V249A |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 65,975,437 (GRCm39) |
|
probably null |
Het |
| Dnajc3 |
C |
A |
14: 119,215,585 (GRCm39) |
H502N |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,381,846 (GRCm39) |
T2265A |
probably damaging |
Het |
| Enpp6 |
A |
G |
8: 47,518,496 (GRCm39) |
D208G |
probably benign |
Het |
| Evc |
C |
T |
5: 37,479,393 (GRCm39) |
|
probably null |
Het |
| Fam98a |
A |
G |
17: 75,845,977 (GRCm39) |
S285P |
probably damaging |
Het |
| Glp2r |
G |
T |
11: 67,648,419 (GRCm39) |
Y94* |
probably null |
Het |
| Gsdmc |
A |
G |
15: 63,676,229 (GRCm39) |
|
probably null |
Het |
| Gtpbp4 |
C |
A |
13: 9,035,253 (GRCm39) |
D369Y |
probably damaging |
Het |
| H2-M1 |
A |
G |
17: 36,982,630 (GRCm39) |
Y77H |
probably benign |
Het |
| Irx2 |
T |
C |
13: 72,780,729 (GRCm39) |
V466A |
possibly damaging |
Het |
| Kcnh4 |
C |
A |
11: 100,643,079 (GRCm39) |
W396L |
probably damaging |
Het |
| Kif27 |
T |
C |
13: 58,476,808 (GRCm39) |
D614G |
possibly damaging |
Het |
| Kirrel2 |
C |
A |
7: 30,150,226 (GRCm39) |
|
probably null |
Het |
| Lcn5 |
A |
G |
2: 25,551,426 (GRCm39) |
I182V |
probably benign |
Het |
| Ldb3 |
T |
G |
14: 34,288,815 (GRCm39) |
S252R |
probably damaging |
Het |
| Marchf8 |
G |
A |
6: 116,363,232 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
C |
A |
4: 32,756,512 (GRCm39) |
Q4735K |
probably benign |
Het |
| Mfrp |
A |
T |
9: 44,014,561 (GRCm39) |
H236L |
probably benign |
Het |
| Mlph |
A |
G |
1: 90,867,112 (GRCm39) |
D378G |
probably damaging |
Het |
| Msi1 |
T |
A |
5: 115,588,944 (GRCm39) |
Y320N |
probably damaging |
Het |
| Mtmr11 |
T |
C |
3: 96,070,567 (GRCm39) |
|
probably benign |
Het |
| Mtpap |
T |
C |
18: 4,375,638 (GRCm39) |
V6A |
probably benign |
Het |
| Nedd1 |
C |
A |
10: 92,530,893 (GRCm39) |
D399Y |
probably damaging |
Het |
| Ninl |
A |
G |
2: 150,781,829 (GRCm39) |
Y234H |
probably benign |
Het |
| Nkx3-1 |
G |
A |
14: 69,428,367 (GRCm39) |
G72S |
probably benign |
Het |
| Nle1 |
A |
G |
11: 82,795,763 (GRCm39) |
V228A |
probably benign |
Het |
| Npy4r |
T |
A |
14: 33,868,973 (GRCm39) |
D105V |
probably damaging |
Het |
| Or1f12 |
A |
G |
13: 21,722,152 (GRCm39) |
Y8H |
probably damaging |
Het |
| Palld |
C |
T |
8: 62,156,244 (GRCm39) |
V464M |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,719,235 (GRCm39) |
V1124A |
unknown |
Het |
| Pex1 |
T |
A |
5: 3,659,924 (GRCm39) |
M476K |
probably benign |
Het |
| Pkhd1l1 |
G |
A |
15: 44,367,421 (GRCm39) |
S773N |
probably benign |
Het |
| Polrmt |
A |
G |
10: 79,582,385 (GRCm39) |
M1T |
probably null |
Het |
| Prmt9 |
A |
G |
8: 78,282,358 (GRCm39) |
D85G |
probably damaging |
Het |
| Ptpn12 |
T |
A |
5: 21,220,706 (GRCm39) |
|
probably null |
Het |
| Rbm19 |
T |
A |
5: 120,279,631 (GRCm39) |
M766K |
probably damaging |
Het |
| Rdh11 |
A |
G |
12: 79,235,380 (GRCm39) |
V72A |
probably benign |
Het |
| Rxfp3 |
A |
G |
15: 11,036,367 (GRCm39) |
V335A |
probably damaging |
Het |
| Sema6a |
T |
C |
18: 47,431,318 (GRCm39) |
K127E |
possibly damaging |
Het |
| Slc5a1 |
C |
T |
5: 33,318,126 (GRCm39) |
T593I |
probably benign |
Het |
| Slco1a1 |
A |
G |
6: 141,868,825 (GRCm39) |
F380L |
probably benign |
Het |
| Smc2 |
T |
C |
4: 52,450,826 (GRCm39) |
S215P |
probably damaging |
Het |
| Smyd2 |
A |
T |
1: 189,614,385 (GRCm39) |
V381E |
probably damaging |
Het |
| Smyd4 |
C |
T |
11: 75,273,120 (GRCm39) |
S60L |
probably benign |
Het |
| Spata18 |
T |
A |
5: 73,836,336 (GRCm39) |
V419E |
probably damaging |
Het |
| Terb1 |
A |
G |
8: 105,208,950 (GRCm39) |
L376S |
probably damaging |
Het |
| Timd2 |
T |
C |
11: 46,573,617 (GRCm39) |
E129G |
possibly damaging |
Het |
| Topbp1 |
C |
A |
9: 103,197,804 (GRCm39) |
T461K |
probably benign |
Het |
| Tpp2 |
G |
A |
1: 44,031,428 (GRCm39) |
R1069Q |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,584,289 (GRCm39) |
V22273A |
probably damaging |
Het |
| Tulp4 |
G |
A |
17: 6,249,088 (GRCm39) |
E36K |
probably damaging |
Het |
| Uqcrfs1 |
A |
T |
13: 30,724,746 (GRCm39) |
F265I |
probably damaging |
Het |
| Vmn2r107 |
A |
T |
17: 20,595,403 (GRCm39) |
Q652L |
probably damaging |
Het |
| Vwf |
C |
T |
6: 125,644,446 (GRCm39) |
R2434* |
probably null |
Het |
| Zfp442 |
A |
T |
2: 150,250,415 (GRCm39) |
C439S |
probably damaging |
Het |
| Zfp709 |
A |
G |
8: 72,643,632 (GRCm39) |
T354A |
probably benign |
Het |
| Zswim2 |
A |
T |
2: 83,755,454 (GRCm39) |
I149N |
probably damaging |
Het |
|
| Other mutations in Wdhd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01335:Wdhd1
|
APN |
14 |
47,488,239 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01789:Wdhd1
|
APN |
14 |
47,512,274 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01981:Wdhd1
|
APN |
14 |
47,498,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02034:Wdhd1
|
APN |
14 |
47,498,808 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02932:Wdhd1
|
APN |
14 |
47,509,591 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02966:Wdhd1
|
APN |
14 |
47,479,101 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03355:Wdhd1
|
APN |
14 |
47,481,346 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0165:Wdhd1
|
UTSW |
14 |
47,504,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0414:Wdhd1
|
UTSW |
14 |
47,514,045 (GRCm39) |
missense |
probably benign |
|
|
R0603:Wdhd1
|
UTSW |
14 |
47,501,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1503:Wdhd1
|
UTSW |
14 |
47,484,857 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1539:Wdhd1
|
UTSW |
14 |
47,482,507 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1541:Wdhd1
|
UTSW |
14 |
47,505,649 (GRCm39) |
nonsense |
probably null |
|
|
R1588:Wdhd1
|
UTSW |
14 |
47,493,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1686:Wdhd1
|
UTSW |
14 |
47,493,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1916:Wdhd1
|
UTSW |
14 |
47,496,034 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1952:Wdhd1
|
UTSW |
14 |
47,507,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2320:Wdhd1
|
UTSW |
14 |
47,511,485 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2421:Wdhd1
|
UTSW |
14 |
47,496,041 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3731:Wdhd1
|
UTSW |
14 |
47,485,349 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3818:Wdhd1
|
UTSW |
14 |
47,481,258 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3836:Wdhd1
|
UTSW |
14 |
47,482,511 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4789:Wdhd1
|
UTSW |
14 |
47,506,149 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4994:Wdhd1
|
UTSW |
14 |
47,506,111 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5225:Wdhd1
|
UTSW |
14 |
47,488,273 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5347:Wdhd1
|
UTSW |
14 |
47,506,181 (GRCm39) |
nonsense |
probably null |
|
|
R5377:Wdhd1
|
UTSW |
14 |
47,509,678 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6038:Wdhd1
|
UTSW |
14 |
47,501,037 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6038:Wdhd1
|
UTSW |
14 |
47,501,037 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6046:Wdhd1
|
UTSW |
14 |
47,510,667 (GRCm39) |
nonsense |
probably null |
|
|
R6156:Wdhd1
|
UTSW |
14 |
47,505,653 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6289:Wdhd1
|
UTSW |
14 |
47,495,953 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6298:Wdhd1
|
UTSW |
14 |
47,510,579 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6345:Wdhd1
|
UTSW |
14 |
47,489,379 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6405:Wdhd1
|
UTSW |
14 |
47,481,324 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6500:Wdhd1
|
UTSW |
14 |
47,488,217 (GRCm39) |
splice site |
probably null |
|
|
R6564:Wdhd1
|
UTSW |
14 |
47,485,499 (GRCm39) |
missense |
probably benign |
|
|
R6897:Wdhd1
|
UTSW |
14 |
47,485,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7262:Wdhd1
|
UTSW |
14 |
47,489,430 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7444:Wdhd1
|
UTSW |
14 |
47,489,405 (GRCm39) |
nonsense |
probably null |
|
|
R7496:Wdhd1
|
UTSW |
14 |
47,511,481 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7503:Wdhd1
|
UTSW |
14 |
47,488,248 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8317:Wdhd1
|
UTSW |
14 |
47,500,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8323:Wdhd1
|
UTSW |
14 |
47,512,252 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8331:Wdhd1
|
UTSW |
14 |
47,509,702 (GRCm39) |
splice site |
probably null |
|
|
R8338:Wdhd1
|
UTSW |
14 |
47,506,120 (GRCm39) |
missense |
probably benign |
|
|
R8363:Wdhd1
|
UTSW |
14 |
47,513,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8944:Wdhd1
|
UTSW |
14 |
47,504,470 (GRCm39) |
missense |
probably benign |
|
|
R8946:Wdhd1
|
UTSW |
14 |
47,482,752 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9045:Wdhd1
|
UTSW |
14 |
47,511,409 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9428:Wdhd1
|
UTSW |
14 |
47,489,427 (GRCm39) |
nonsense |
probably null |
|
|
R9444:Wdhd1
|
UTSW |
14 |
47,488,324 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9491:Wdhd1
|
UTSW |
14 |
47,505,616 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTATTCAATCCTTAGCACCACCC -3'
(R):5'- GGCAGGTATTAATTTTCTCCTGGC -3'
Sequencing Primer
(F):5'- CTACAGAACATTATGGCGTGCATGC -3'
(R):5'- TCTCCTGGCTAACAAAATGACATG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation