Incidental Mutation 'R9045:Wdhd1'
| ID |
688011 |
| 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 |
068872-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9045 (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 47511409 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 101
(V101A)
|
| 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 |
probably benign
Transcript: ENSMUST00000111790
AA Change: V101A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000107420
Gene: ENSMUSG00000037572
AA Change: V101A
| 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: ENSMUST00000111792
AA Change: V101A
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000107422
Gene: ENSMUSG00000037572
AA Change: V101A
| 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 benign
Transcript: ENSMUST00000187531
AA Change: V101A
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000141182
Gene: ENSMUSG00000037572
AA Change: V101A
| 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
|
| Meta Mutation Damage Score |
0.0746 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.6%
|
| Validation Efficiency |
100% (66/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5930422O12Rik |
A |
C |
8: 33,919,362 (GRCm39) |
M61L |
|
Het |
| 9130401M01Rik |
G |
T |
15: 57,892,130 (GRCm39) |
A223E |
possibly damaging |
Het |
| Adgra1 |
T |
G |
7: 139,432,566 (GRCm39) |
L135V |
possibly damaging |
Het |
| Aida |
A |
G |
1: 183,094,940 (GRCm39) |
E127G |
possibly damaging |
Het |
| Ankrd31 |
T |
A |
13: 96,968,034 (GRCm39) |
L557* |
probably null |
Het |
| Atxn7l3 |
T |
A |
11: 102,183,272 (GRCm39) |
T221S |
probably damaging |
Het |
| Bbs7 |
A |
G |
3: 36,666,184 (GRCm39) |
S27P |
probably benign |
Het |
| Cela3b |
A |
T |
4: 137,152,110 (GRCm39) |
C116S |
possibly damaging |
Het |
| Clstn3 |
A |
C |
6: 124,408,921 (GRCm39) |
M909R |
probably damaging |
Het |
| Cnot2 |
T |
C |
10: 116,322,160 (GRCm39) |
E523G |
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,582,034 (GRCm39) |
T1406S |
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,837,680 (GRCm39) |
N763K |
possibly damaging |
Het |
| Csmd1 |
A |
G |
8: 16,284,088 (GRCm39) |
F557L |
probably damaging |
Het |
| Cyth1 |
T |
C |
11: 118,073,090 (GRCm39) |
H270R |
possibly damaging |
Het |
| Epg5 |
T |
C |
18: 77,992,014 (GRCm39) |
L237P |
probably damaging |
Het |
| Fbxo36 |
G |
A |
1: 84,874,300 (GRCm39) |
D99N |
probably damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,853,856 (GRCm39) |
C1607S |
probably damaging |
Het |
| Flot2 |
A |
G |
11: 77,950,023 (GRCm39) |
I417M |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,182,118 (GRCm39) |
L143P |
|
Het |
| Gckr |
A |
G |
5: 31,457,353 (GRCm39) |
N122S |
possibly damaging |
Het |
| Gm3250 |
T |
A |
10: 77,617,932 (GRCm39) |
T149S |
unknown |
Het |
| Golga3 |
G |
A |
5: 110,340,963 (GRCm39) |
M552I |
probably benign |
Het |
| Grip1 |
T |
A |
10: 119,871,356 (GRCm39) |
D694E |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,428,233 (GRCm39) |
V790A |
probably benign |
Het |
| Ighv1-54 |
G |
A |
12: 115,157,500 (GRCm39) |
T49I |
probably benign |
Het |
| Iglv1 |
A |
G |
16: 18,904,053 (GRCm39) |
V22A |
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,060,838 (GRCm39) |
Y722F |
|
Het |
| Laptm5 |
A |
T |
4: 130,655,955 (GRCm39) |
E91V |
|
Het |
| Lrig1 |
A |
G |
6: 94,585,688 (GRCm39) |
|
probably null |
Het |
| Mcph1 |
T |
G |
8: 18,682,443 (GRCm39) |
S527A |
probably benign |
Het |
| Med13l |
G |
T |
5: 118,880,816 (GRCm39) |
V1303L |
probably benign |
Het |
| Mindy4 |
A |
G |
6: 55,295,283 (GRCm39) |
D741G |
probably benign |
Het |
| Myo15b |
T |
A |
11: 115,783,178 (GRCm39) |
*3034R |
probably null |
Het |
| Nfkbie |
A |
T |
17: 45,872,959 (GRCm39) |
K354I |
probably damaging |
Het |
| Npat |
A |
G |
9: 53,474,776 (GRCm39) |
N856S |
possibly damaging |
Het |
| Nr2c2ap |
A |
G |
8: 70,585,808 (GRCm39) |
D122G |
probably damaging |
Het |
| Nr4a3 |
C |
A |
4: 48,067,694 (GRCm39) |
T430K |
possibly damaging |
Het |
| Or12e10 |
C |
A |
2: 87,640,416 (GRCm39) |
S84Y |
probably damaging |
Het |
| Or52ab4 |
T |
G |
7: 102,987,903 (GRCm39) |
I214R |
probably damaging |
Het |
| Or5h25 |
A |
G |
16: 58,930,365 (GRCm39) |
S203P |
probably benign |
Het |
| Otud7b |
A |
G |
3: 96,059,895 (GRCm39) |
K397E |
probably benign |
Het |
| Pafah1b3 |
G |
T |
7: 24,996,898 (GRCm39) |
|
probably benign |
Het |
| Pcdhgc3 |
G |
T |
18: 37,940,669 (GRCm39) |
V357L |
probably damaging |
Het |
| Pde2a |
A |
G |
7: 101,152,498 (GRCm39) |
T354A |
unknown |
Het |
| Pira12 |
A |
G |
7: 3,897,547 (GRCm39) |
I516T |
possibly damaging |
Het |
| Rbfa |
T |
C |
18: 80,236,026 (GRCm39) |
H241R |
probably damaging |
Het |
| Rhox3c |
C |
T |
X: 36,651,303 (GRCm39) |
|
probably benign |
Het |
| Rps6ka1 |
C |
T |
4: 133,600,150 (GRCm39) |
|
probably benign |
Het |
| S1pr2 |
T |
C |
9: 20,878,890 (GRCm39) |
T313A |
probably benign |
Het |
| Sbno1 |
A |
G |
5: 124,543,720 (GRCm39) |
V273A |
probably benign |
Het |
| Scg3 |
T |
C |
9: 75,570,522 (GRCm39) |
N344S |
probably damaging |
Het |
| Serpinb1c |
C |
G |
13: 33,066,027 (GRCm39) |
G306A |
probably benign |
Het |
| Sh2d6 |
C |
T |
6: 72,492,604 (GRCm39) |
G206D |
probably benign |
Het |
| Slamf9 |
G |
A |
1: 172,304,938 (GRCm39) |
S184N |
probably damaging |
Het |
| Slc50a1 |
T |
C |
3: 89,176,042 (GRCm39) |
T168A |
probably damaging |
Het |
| Tas2r124 |
G |
C |
6: 132,732,034 (GRCm39) |
W114C |
probably damaging |
Het |
| Tgm4 |
C |
T |
9: 122,877,616 (GRCm39) |
T206I |
possibly damaging |
Het |
| Tmem52 |
A |
G |
4: 155,553,899 (GRCm39) |
|
probably null |
Het |
| Vmn2r102 |
A |
G |
17: 19,880,841 (GRCm39) |
K61E |
probably benign |
Het |
| Vmn2r58 |
T |
C |
7: 41,487,087 (GRCm39) |
I603V |
probably benign |
Het |
| Vstm2l |
G |
T |
2: 157,756,795 (GRCm39) |
G22V |
unknown |
Het |
| Vwa5b1 |
T |
A |
4: 138,315,990 (GRCm39) |
Y584F |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 101,995,040 (GRCm39) |
V3233D |
probably damaging |
Het |
| Zfc3h1 |
C |
A |
10: 115,263,319 (GRCm39) |
Q1761K |
possibly damaging |
Het |
| Zfp180 |
G |
A |
7: 23,804,315 (GRCm39) |
V245I |
probably benign |
Het |
| Zfp846 |
A |
T |
9: 20,505,189 (GRCm39) |
I350L |
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 |
|
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 |
|
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'- ACCTCAGCACTCAGTGAATTC -3'
(R):5'- TGAACTGCATTTATAAGGCGTTGTG -3'
Sequencing Primer
(F):5'- GTGGTGCACGTCTTTAAACCCAG -3'
(R):5'- ATAAGGCGTTGTGGTTTTAACAG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation