Incidental Mutation 'R6298:Wdhd1'
| ID |
508934 |
| 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 |
044408-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6298 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
47478401-47514314 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47510579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 148
(D148G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141182
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065562]
[ENSMUST00000111790]
[ENSMUST00000111791]
[ENSMUST00000111792]
[ENSMUST00000187531]
[ENSMUST00000227413]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065562
|
| SMART Domains |
Protein: ENSMUSP00000066031
Gene: ENSMUSG00000048379
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
47 |
N/A |
INTRINSIC |
|
Pfam:SOCS
|
55 |
108 |
6.8e-23 |
PFAM |
|
low complexity region
|
219 |
232 |
N/A |
INTRINSIC |
|
SH2
|
281 |
367 |
1.11e-16 |
SMART |
|
SOCS
|
377 |
420 |
1.69e-16 |
SMART |
|
SOCS_box
|
383 |
419 |
1.13e-9 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111790
AA Change: D148G
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000107420
Gene: ENSMUSG00000037572
AA Change: D148G
| 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 |
possibly damaging
Transcript: ENSMUST00000111791
AA Change: D148G
PolyPhen 2
Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000107421
Gene: ENSMUSG00000037572
AA Change: D148G
| 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 |
probably benign
Transcript: ENSMUST00000111792
AA Change: D148G
PolyPhen 2
Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107422
Gene: ENSMUSG00000037572
AA Change: D148G
| 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 |
possibly damaging
Transcript: ENSMUST00000187531
AA Change: D148G
PolyPhen 2
Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000141182
Gene: ENSMUSG00000037572
AA Change: D148G
| 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 |
noncoding transcript
Transcript: ENSMUST00000228623
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227413
|
| Meta Mutation Damage Score |
0.5353 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
98% (79/81) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
A |
T |
2: 103,539,833 (GRCm39) |
M733L |
probably benign |
Het |
| Acss3 |
G |
A |
10: 106,920,717 (GRCm39) |
P131L |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,539,886 (GRCm39) |
I5678F |
probably benign |
Het |
| Aff1 |
C |
T |
5: 103,902,586 (GRCm39) |
L6F |
possibly damaging |
Het |
| Ank3 |
G |
T |
10: 69,686,006 (GRCm39) |
R273L |
probably damaging |
Het |
| Anks1b |
G |
A |
10: 90,516,699 (GRCm39) |
G898D |
probably damaging |
Het |
| Anxa11 |
C |
T |
14: 25,873,158 (GRCm39) |
P131S |
unknown |
Het |
| Ap4e1 |
T |
A |
2: 126,889,035 (GRCm39) |
M500K |
probably benign |
Het |
| Bag3 |
T |
C |
7: 128,141,922 (GRCm39) |
S138P |
probably damaging |
Het |
| Capn9 |
T |
C |
8: 125,344,193 (GRCm39) |
V670A |
probably benign |
Het |
| Ccne2 |
T |
A |
4: 11,199,306 (GRCm39) |
W236R |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,262,451 (GRCm39) |
Y702* |
probably null |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Cit |
A |
T |
5: 116,086,124 (GRCm39) |
E896V |
probably damaging |
Het |
| Cntln |
T |
A |
4: 85,014,998 (GRCm39) |
N1096K |
probably damaging |
Het |
| Cntnap5c |
T |
C |
17: 58,411,747 (GRCm39) |
C544R |
probably damaging |
Het |
| Csf1 |
A |
T |
3: 107,655,675 (GRCm39) |
L452Q |
possibly damaging |
Het |
| Cts8 |
T |
A |
13: 61,397,037 (GRCm39) |
K294N |
possibly damaging |
Het |
| Dcakd |
T |
G |
11: 102,890,618 (GRCm39) |
E56D |
possibly damaging |
Het |
| Dnah17 |
T |
C |
11: 117,998,987 (GRCm39) |
I929V |
probably benign |
Het |
| Dnah2 |
G |
T |
11: 69,382,467 (GRCm39) |
H1214Q |
probably benign |
Het |
| Dock9 |
T |
C |
14: 121,872,006 (GRCm39) |
D536G |
probably damaging |
Het |
| Drc3 |
A |
G |
11: 60,284,596 (GRCm39) |
N467S |
possibly damaging |
Het |
| Dysf |
A |
G |
6: 84,084,118 (GRCm39) |
|
probably null |
Het |
| Ecpas |
T |
G |
4: 58,877,157 (GRCm39) |
T93P |
probably damaging |
Het |
| Evpl |
A |
T |
11: 116,121,748 (GRCm39) |
L378Q |
probably damaging |
Het |
| Fer1l4 |
A |
T |
2: 155,866,660 (GRCm39) |
H1520Q |
probably damaging |
Het |
| Fhod1 |
A |
T |
8: 106,063,780 (GRCm39) |
|
probably benign |
Het |
| Gabra1 |
T |
A |
11: 42,073,205 (GRCm39) |
|
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm14137 |
A |
G |
2: 119,005,572 (GRCm39) |
T44A |
possibly damaging |
Het |
| H2bl1 |
T |
A |
13: 99,120,974 (GRCm39) |
R17S |
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,841,013 (GRCm39) |
M3444T |
probably benign |
Het |
| Igsf5 |
T |
C |
16: 96,197,648 (GRCm39) |
S208P |
possibly damaging |
Het |
| Ino80b |
A |
G |
6: 83,102,066 (GRCm39) |
L12P |
possibly damaging |
Het |
| Insrr |
A |
G |
3: 87,720,272 (GRCm39) |
D970G |
probably damaging |
Het |
| Iqcf4 |
G |
A |
9: 106,445,874 (GRCm39) |
A91V |
probably benign |
Het |
| Itga10 |
A |
G |
3: 96,564,078 (GRCm39) |
T911A |
probably benign |
Het |
| Katnip |
T |
C |
7: 125,469,869 (GRCm39) |
V1446A |
probably benign |
Het |
| Klhl30 |
A |
T |
1: 91,285,086 (GRCm39) |
D314V |
probably benign |
Het |
| Lpcat1 |
T |
C |
13: 73,659,074 (GRCm39) |
V330A |
possibly damaging |
Het |
| Myef2l |
T |
C |
3: 10,154,239 (GRCm39) |
I336T |
probably damaging |
Het |
| Nhlrc3 |
A |
T |
3: 53,359,944 (GRCm39) |
D306E |
possibly damaging |
Het |
| Notum |
T |
A |
11: 120,548,766 (GRCm39) |
I187F |
probably damaging |
Het |
| Nphp3 |
T |
C |
9: 103,892,640 (GRCm39) |
L288P |
probably damaging |
Het |
| Ntrk2 |
G |
T |
13: 59,019,570 (GRCm39) |
E394* |
probably null |
Het |
| Or6k2 |
T |
A |
1: 173,979,748 (GRCm39) |
V222D |
probably benign |
Het |
| Pbld2 |
A |
G |
10: 62,874,931 (GRCm39) |
K63E |
probably benign |
Het |
| Phc2 |
T |
C |
4: 128,641,982 (GRCm39) |
M768T |
possibly damaging |
Het |
| Pik3c2g |
G |
A |
6: 139,603,561 (GRCm39) |
C249Y |
probably damaging |
Het |
| Plod1 |
G |
A |
4: 148,000,772 (GRCm39) |
|
probably benign |
Het |
| Plscr2 |
A |
T |
9: 92,172,772 (GRCm39) |
T9S |
probably benign |
Het |
| Pnrc1 |
T |
A |
4: 33,246,315 (GRCm39) |
M215L |
probably benign |
Het |
| Prcp |
G |
T |
7: 92,577,841 (GRCm39) |
C370F |
probably damaging |
Het |
| Pter |
A |
G |
2: 12,983,205 (GRCm39) |
N70S |
probably damaging |
Het |
| Ptprt |
G |
T |
2: 161,395,779 (GRCm39) |
H1131Q |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 157,239,432 (GRCm39) |
D8G |
possibly damaging |
Het |
| Rcn2 |
A |
C |
9: 55,960,209 (GRCm39) |
K159Q |
probably benign |
Het |
| Rex2 |
T |
A |
4: 147,141,972 (GRCm39) |
C153* |
probably null |
Het |
| Rps6ka2 |
T |
C |
17: 7,437,766 (GRCm39) |
F8S |
possibly damaging |
Het |
| Samd9l |
A |
G |
6: 3,375,383 (GRCm39) |
L626S |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,667,428 (GRCm39) |
|
probably null |
Het |
| Srgap3 |
A |
T |
6: 112,793,571 (GRCm39) |
V135D |
probably damaging |
Het |
| Srsf7 |
T |
C |
17: 80,514,682 (GRCm39) |
|
probably benign |
Het |
| Tacc2 |
A |
G |
7: 130,228,255 (GRCm39) |
T1647A |
probably benign |
Het |
| Thap12 |
G |
T |
7: 98,352,612 (GRCm39) |
A6S |
probably damaging |
Het |
| Tmem33 |
T |
A |
5: 67,425,894 (GRCm39) |
L146* |
probably null |
Het |
| Trip13 |
C |
A |
13: 74,084,378 (GRCm39) |
E36* |
probably null |
Het |
| Vkorc1l1 |
T |
A |
5: 129,971,079 (GRCm39) |
C23S |
probably damaging |
Het |
| Vmn1r20 |
G |
A |
6: 57,409,112 (GRCm39) |
R146H |
probably benign |
Het |
| Vmn1r222 |
T |
A |
13: 23,416,965 (GRCm39) |
I83F |
probably benign |
Het |
| Vmn2r107 |
A |
T |
17: 20,576,044 (GRCm39) |
I125F |
probably benign |
Het |
| Vmn2r116 |
A |
G |
17: 23,605,736 (GRCm39) |
D216G |
probably damaging |
Het |
| Vwa3a |
C |
T |
7: 120,394,874 (GRCm39) |
T898I |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,116,812 (GRCm39) |
D76G |
probably damaging |
Het |
| Xylt1 |
T |
C |
7: 117,255,960 (GRCm39) |
I844T |
probably damaging |
Het |
| Zfp106 |
A |
T |
2: 120,353,185 (GRCm39) |
V1535D |
probably damaging |
Het |
| Zfp385b |
A |
T |
2: 77,244,323 (GRCm39) |
L315Q |
possibly damaging |
Het |
| Zfp458 |
T |
A |
13: 67,404,870 (GRCm39) |
H523L |
probably damaging |
Het |
| Zfp712 |
T |
C |
13: 67,189,393 (GRCm39) |
H378R |
probably damaging |
Het |
| Zic1 |
T |
C |
9: 91,246,556 (GRCm39) |
Y172C |
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 |
|
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'- AGTTCCATCACAACTAGCCG -3'
(R):5'- TTTAAAGCTGGCTTTAGAAGAGGC -3'
Sequencing Primer
(F):5'- TCACAACTAGCCGATGCCTG -3'
(R):5'- AGAAGAGGCGTCTGTATTGGC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation