Incidental Mutation 'R6345:Wdhd1'
ID |
514126 |
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 |
044499-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6345 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
47478401-47514314 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 47489379 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 718
(M718T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141182
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111791]
[ENSMUST00000111792]
[ENSMUST00000187531]
[ENSMUST00000227041]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111791
AA Change: M718T
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000107421 Gene: ENSMUSG00000037572 AA Change: M718T
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: M681T
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000107422 Gene: ENSMUSG00000037572 AA Change: M681T
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 |
probably damaging
Transcript: ENSMUST00000187531
AA Change: M718T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000141182 Gene: ENSMUSG00000037572 AA Change: M718T
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227041
|
Meta Mutation Damage Score |
0.2405 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
Validation Efficiency |
100% (61/61) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
T |
C |
10: 87,061,913 (GRCm39) |
I121T |
probably benign |
Het |
4921524L21Rik |
T |
A |
18: 6,626,399 (GRCm39) |
M137K |
possibly damaging |
Het |
Angpt4 |
C |
A |
2: 151,771,354 (GRCm39) |
N223K |
probably benign |
Het |
Ankrd6 |
T |
C |
4: 32,810,266 (GRCm39) |
R437G |
probably damaging |
Het |
Atp9a |
C |
T |
2: 168,518,093 (GRCm39) |
S264N |
probably damaging |
Het |
AY358078 |
A |
C |
14: 52,063,749 (GRCm39) |
Y465S |
probably damaging |
Het |
Bin3 |
G |
A |
14: 70,374,676 (GRCm39) |
R235Q |
probably benign |
Het |
Bsn |
G |
A |
9: 107,984,554 (GRCm39) |
P3167S |
unknown |
Het |
Camk2g |
G |
A |
14: 20,787,443 (GRCm39) |
R274C |
probably damaging |
Het |
Ccdc61 |
A |
T |
7: 18,643,914 (GRCm39) |
|
probably null |
Het |
Ccnjl |
A |
T |
11: 43,476,165 (GRCm39) |
T263S |
probably benign |
Het |
Col17a1 |
G |
T |
19: 47,641,818 (GRCm39) |
P944T |
possibly damaging |
Het |
Cyp2c39 |
A |
T |
19: 39,501,615 (GRCm39) |
|
probably null |
Het |
Cyp2c39 |
G |
T |
19: 39,501,616 (GRCm39) |
|
probably null |
Het |
Cyp4a32 |
T |
C |
4: 115,459,560 (GRCm39) |
V98A |
possibly damaging |
Het |
Dnah9 |
A |
G |
11: 65,928,519 (GRCm39) |
V2050A |
probably damaging |
Het |
F5 |
A |
G |
1: 164,019,520 (GRCm39) |
N665S |
probably benign |
Het |
Fbxl6 |
A |
T |
15: 76,420,054 (GRCm39) |
C520S |
probably damaging |
Het |
Fscn2 |
C |
A |
11: 120,252,853 (GRCm39) |
H107N |
probably damaging |
Het |
Gfm2 |
C |
T |
13: 97,299,461 (GRCm39) |
T367M |
probably damaging |
Het |
Gle1 |
C |
G |
2: 29,826,127 (GRCm39) |
P69A |
probably benign |
Het |
Gpr156 |
A |
T |
16: 37,807,881 (GRCm39) |
D176V |
probably damaging |
Het |
Grip2 |
A |
G |
6: 91,742,369 (GRCm39) |
S895P |
possibly damaging |
Het |
Hfm1 |
C |
T |
5: 106,989,504 (GRCm39) |
G1404D |
probably benign |
Het |
Ifit1bl1 |
G |
A |
19: 34,571,570 (GRCm39) |
R296* |
probably null |
Het |
Ighv1-39 |
C |
T |
12: 114,878,479 (GRCm39) |
V31M |
possibly damaging |
Het |
Itgav |
A |
G |
2: 83,632,380 (GRCm39) |
E956G |
probably damaging |
Het |
Katnip |
C |
A |
7: 125,352,159 (GRCm39) |
D26E |
probably damaging |
Het |
Lsm8 |
A |
G |
6: 18,853,644 (GRCm39) |
D86G |
probably damaging |
Het |
Mdh1b |
T |
G |
1: 63,754,398 (GRCm39) |
H390P |
possibly damaging |
Het |
Mtrf1l |
A |
T |
10: 5,767,468 (GRCm39) |
I216N |
possibly damaging |
Het |
Muc16 |
G |
A |
9: 18,566,222 (GRCm39) |
T2099I |
unknown |
Het |
Myh7 |
T |
C |
14: 55,221,149 (GRCm39) |
R925G |
probably damaging |
Het |
Myo1h |
T |
A |
5: 114,489,769 (GRCm39) |
I658N |
probably damaging |
Het |
Myo5a |
A |
T |
9: 75,097,195 (GRCm39) |
D81V |
possibly damaging |
Het |
Nell1 |
G |
A |
7: 49,625,171 (GRCm39) |
C12Y |
possibly damaging |
Het |
Obscn |
T |
C |
11: 58,944,522 (GRCm39) |
Y4724C |
probably damaging |
Het |
Or8k53 |
A |
G |
2: 86,177,892 (GRCm39) |
Y73H |
probably damaging |
Het |
Pah |
G |
A |
10: 87,412,049 (GRCm39) |
D315N |
probably damaging |
Het |
Per2 |
A |
G |
1: 91,376,444 (GRCm39) |
V143A |
probably damaging |
Het |
Plcxd1 |
T |
C |
5: 110,248,165 (GRCm39) |
V38A |
probably benign |
Het |
Pld1 |
A |
G |
3: 28,184,896 (GRCm39) |
|
probably benign |
Het |
Plekhh2 |
A |
G |
17: 84,883,215 (GRCm39) |
N761S |
probably benign |
Het |
Polh |
T |
C |
17: 46,493,664 (GRCm39) |
I318V |
probably benign |
Het |
Prex1 |
T |
C |
2: 166,414,880 (GRCm39) |
Q1323R |
probably null |
Het |
Rb1cc1 |
T |
A |
1: 6,333,481 (GRCm39) |
S1440T |
probably benign |
Het |
Rbm19 |
G |
T |
5: 120,265,105 (GRCm39) |
W382L |
possibly damaging |
Het |
Rchy1 |
T |
C |
5: 92,105,801 (GRCm39) |
D49G |
probably benign |
Het |
Ric1 |
A |
G |
19: 29,581,485 (GRCm39) |
D1402G |
probably benign |
Het |
S1pr3 |
G |
T |
13: 51,573,067 (GRCm39) |
A83S |
probably damaging |
Het |
S1pr3 |
C |
A |
13: 51,573,068 (GRCm39) |
A83D |
probably damaging |
Het |
Selplg |
G |
A |
5: 113,958,210 (GRCm39) |
P32L |
probably benign |
Het |
Serpinb9c |
T |
C |
13: 33,333,978 (GRCm39) |
R355G |
probably damaging |
Het |
Slx4 |
G |
C |
16: 3,808,714 (GRCm39) |
Q409E |
probably benign |
Het |
Sntg1 |
A |
C |
1: 8,653,508 (GRCm39) |
L243R |
possibly damaging |
Het |
Specc1l |
G |
T |
10: 75,084,322 (GRCm39) |
D682Y |
probably damaging |
Het |
Spen |
C |
T |
4: 141,198,944 (GRCm39) |
V3228I |
possibly damaging |
Het |
Strip1 |
T |
C |
3: 107,535,516 (GRCm39) |
E69G |
probably damaging |
Het |
Tasp1 |
C |
A |
2: 139,793,457 (GRCm39) |
V240L |
probably damaging |
Het |
Tdrd9 |
T |
A |
12: 112,001,042 (GRCm39) |
F787L |
probably damaging |
Het |
Vmn1r228 |
A |
G |
17: 20,997,144 (GRCm39) |
S125P |
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 |
R4963:Wdhd1
|
UTSW |
14 |
47,506,146 (GRCm39) |
missense |
possibly damaging |
0.66 |
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 |
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'- TCAAAAGATCTACTGCGGGG -3'
(R):5'- CATGTGAACAGCATTTGTGGG -3'
Sequencing Primer
(F):5'- CCGTAATGAGATCTGATGCCC -3'
(R):5'- CCGGTGAGCATTTAATATTACCAGG -3'
|
Posted On |
2018-04-27 |