Incidental Mutation 'R8323:Wdhd1'
| ID |
643945 |
| 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 |
067724-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8323 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
47478401-47514314 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 47512252 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 46
(D46E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065562]
[ENSMUST00000111790]
[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: D46E
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107420
Gene: ENSMUSG00000037572
AA Change: D46E
| 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 damaging
Transcript: ENSMUST00000111792
AA Change: D46E
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000107422
Gene: ENSMUSG00000037572
AA Change: D46E
| 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: D46E
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141182
Gene: ENSMUSG00000037572
AA Change: D46E
| 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: ENSMUST00000227413
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
T |
C |
4: 128,649,351 (GRCm39) |
F6S |
probably benign |
Het |
| Braf |
T |
C |
6: 39,620,058 (GRCm39) |
T507A |
possibly damaging |
Het |
| Catsperb |
A |
C |
12: 101,375,658 (GRCm39) |
H24P |
probably benign |
Het |
| Ccdc57 |
G |
T |
11: 120,788,750 (GRCm39) |
Q366K |
possibly damaging |
Het |
| Cep295 |
G |
T |
9: 15,249,529 (GRCm39) |
T462K |
possibly damaging |
Het |
| Cep295 |
T |
A |
9: 15,264,357 (GRCm39) |
R96S |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,719,647 (GRCm39) |
E256K |
probably benign |
Het |
| Cfap251 |
A |
G |
5: 123,435,588 (GRCm39) |
N1016S |
probably benign |
Het |
| Cldn13 |
A |
G |
5: 134,943,828 (GRCm39) |
V119A |
probably benign |
Het |
| Csmd1 |
G |
T |
8: 17,266,751 (GRCm39) |
C58* |
probably null |
Het |
| Csmd3 |
T |
C |
15: 47,561,547 (GRCm39) |
Y1343C |
|
Het |
| Dcbld2 |
T |
A |
16: 58,283,473 (GRCm39) |
|
probably null |
Het |
| Dnah14 |
A |
G |
1: 181,532,109 (GRCm39) |
I2299V |
probably benign |
Het |
| Dsp |
C |
T |
13: 38,356,806 (GRCm39) |
H229Y |
possibly damaging |
Het |
| Fam193b |
A |
T |
13: 55,702,223 (GRCm39) |
C51* |
probably null |
Het |
| Fbxw10 |
G |
A |
11: 62,767,506 (GRCm39) |
V781I |
probably benign |
Het |
| Fdps |
G |
T |
3: 89,002,696 (GRCm39) |
P151T |
possibly damaging |
Het |
| Galk2 |
C |
T |
2: 125,708,298 (GRCm39) |
H16Y |
probably benign |
Het |
| Gm1110 |
A |
G |
9: 26,813,719 (GRCm39) |
|
probably null |
Het |
| Gm3727 |
C |
T |
14: 7,261,693 (GRCm38) |
V204I |
probably benign |
Het |
| Gtf2h3 |
A |
G |
5: 124,720,534 (GRCm39) |
I13V |
probably benign |
Het |
| H2-T24 |
T |
A |
17: 36,328,431 (GRCm39) |
|
probably null |
Het |
| Heatr5a |
C |
T |
12: 52,002,289 (GRCm39) |
V216M |
probably benign |
Het |
| Hspg2 |
C |
G |
4: 137,246,290 (GRCm39) |
P1023A |
possibly damaging |
Het |
| Igfbp2 |
C |
T |
1: 72,888,780 (GRCm39) |
P224S |
probably damaging |
Het |
| Igkv17-127 |
A |
G |
6: 67,838,498 (GRCm39) |
I70V |
possibly damaging |
Het |
| Kif11 |
T |
A |
19: 37,372,692 (GRCm39) |
F27I |
possibly damaging |
Het |
| Lcor |
T |
C |
19: 41,572,036 (GRCm39) |
S264P |
probably benign |
Het |
| Lrrc28 |
G |
T |
7: 67,245,455 (GRCm39) |
T137K |
unknown |
Het |
| Lyg1 |
T |
A |
1: 37,989,018 (GRCm39) |
R67S |
probably damaging |
Het |
| Ms4a10 |
G |
A |
19: 10,940,363 (GRCm39) |
Q255* |
probably null |
Het |
| Myo1h |
A |
G |
5: 114,480,200 (GRCm39) |
R512G |
|
Het |
| Nmnat3 |
T |
C |
9: 98,292,276 (GRCm39) |
Y174H |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,378,255 (GRCm39) |
I19V |
probably benign |
Het |
| Nsf |
C |
A |
11: 103,819,665 (GRCm39) |
V35L |
probably benign |
Het |
| Or1e30 |
A |
T |
11: 73,677,766 (GRCm39) |
M1L |
probably damaging |
Het |
| Or2w6 |
T |
A |
13: 21,843,302 (GRCm39) |
M64L |
possibly damaging |
Het |
| Osbpl9 |
A |
G |
4: 108,965,119 (GRCm39) |
S116P |
probably benign |
Het |
| Pcdhb15 |
A |
C |
18: 37,608,715 (GRCm39) |
E649A |
probably benign |
Het |
| Pcdhb8 |
T |
A |
18: 37,488,476 (GRCm39) |
D51E |
probably benign |
Het |
| Plcl1 |
T |
A |
1: 55,736,895 (GRCm39) |
D745E |
possibly damaging |
Het |
| Prss3 |
A |
G |
6: 41,351,258 (GRCm39) |
L165P |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,793,532 (GRCm39) |
I1211N |
probably damaging |
Het |
| Rb1 |
A |
G |
14: 73,503,023 (GRCm39) |
V416A |
probably benign |
Het |
| Rnf111 |
T |
A |
9: 70,383,204 (GRCm39) |
Q243L |
probably benign |
Het |
| Sacm1l |
T |
C |
9: 123,377,987 (GRCm39) |
V89A |
probably benign |
Het |
| Sardh |
C |
T |
2: 27,125,576 (GRCm39) |
D313N |
probably damaging |
Het |
| Scin |
T |
C |
12: 40,129,681 (GRCm39) |
I371V |
probably benign |
Het |
| Scn10a |
C |
A |
9: 119,438,462 (GRCm39) |
L1801F |
possibly damaging |
Het |
| Sele |
G |
A |
1: 163,879,207 (GRCm39) |
V281M |
possibly damaging |
Het |
| Slc17a1 |
C |
A |
13: 24,071,982 (GRCm39) |
T400K |
probably damaging |
Het |
| Slc22a28 |
T |
A |
19: 8,108,788 (GRCm39) |
D118V |
probably damaging |
Het |
| Slc2a10 |
T |
A |
2: 165,356,671 (GRCm39) |
F110L |
probably benign |
Het |
| Slc51a |
A |
G |
16: 32,295,197 (GRCm39) |
S294P |
probably damaging |
Het |
| Snapc4 |
T |
C |
2: 26,254,711 (GRCm39) |
E1271G |
probably benign |
Het |
| Spata31 |
C |
A |
13: 65,070,065 (GRCm39) |
Q738K |
possibly damaging |
Het |
| Spdya |
A |
G |
17: 71,895,587 (GRCm39) |
D284G |
probably benign |
Het |
| Tdrd5 |
T |
C |
1: 156,094,832 (GRCm39) |
D757G |
possibly damaging |
Het |
| Tmem104 |
T |
C |
11: 115,134,199 (GRCm39) |
F245S |
probably damaging |
Het |
| Tmem170 |
A |
T |
8: 112,603,153 (GRCm39) |
S39T |
probably benign |
Het |
| Trim24 |
G |
T |
6: 37,892,233 (GRCm39) |
|
probably null |
Het |
| Uap1 |
A |
G |
1: 169,978,635 (GRCm39) |
V302A |
probably damaging |
Het |
| Vmn2r96 |
A |
T |
17: 18,803,023 (GRCm39) |
Y311F |
probably damaging |
Het |
| Zdbf2 |
G |
A |
1: 63,342,073 (GRCm39) |
V151I |
possibly damaging |
Het |
| Zfp747l1 |
A |
T |
7: 126,983,621 (GRCm39) |
C494S |
possibly damaging |
Het |
| Zfp943 |
A |
G |
17: 22,211,763 (GRCm39) |
Q283R |
possibly damaging |
Het |
| Zfp944 |
A |
T |
17: 22,558,235 (GRCm39) |
D337E |
probably benign |
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 |
|
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 |
|
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'- ACGTGGATTGTGACAACCAC -3'
(R):5'- GAAGCTAAGAGTCTGCTATTGATG -3'
Sequencing Primer
(F):5'- GACCAGCAAGAGTCAACTTTATTGC -3'
(R):5'- CTGGAACTGGGTGACATT -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation