Incidental Mutation 'R8946:Wdhd1'
| ID |
681324 |
| 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 |
068784-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8946 (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 T
at 47482752 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 961
(S961T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141182
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111792]
[ENSMUST00000187531]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111792
AA Change: S924T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107422
Gene: ENSMUSG00000037572
AA Change: S924T
| 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: S961T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000141182
Gene: ENSMUSG00000037572
AA Change: S961T
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
97% (65/67) |
| 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 |
|---|
| Akap12 |
A |
G |
10: 4,304,368 (GRCm39) |
S393G |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,430,083 (GRCm39) |
F862L |
probably damaging |
Het |
| Ankrd31 |
T |
C |
13: 97,046,037 (GRCm39) |
*1546Q |
probably null |
Het |
| Ankrd33b |
T |
C |
15: 31,297,894 (GRCm39) |
T288A |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,145,227 (GRCm39) |
I1331T |
possibly damaging |
Het |
| Atp13a5 |
A |
G |
16: 29,146,601 (GRCm39) |
L231P |
probably damaging |
Het |
| C1qtnf12 |
T |
C |
4: 156,050,882 (GRCm39) |
F284L |
probably damaging |
Het |
| Caprin1 |
A |
T |
2: 103,608,378 (GRCm39) |
H250Q |
probably damaging |
Het |
| Cd2bp2 |
A |
C |
7: 126,793,923 (GRCm39) |
I122S |
probably damaging |
Het |
| Cd300lf |
T |
A |
11: 115,024,738 (GRCm39) |
|
probably benign |
Het |
| Ceacam14 |
A |
G |
7: 17,547,999 (GRCm39) |
I30V |
probably benign |
Het |
| Chchd1 |
T |
A |
14: 20,753,385 (GRCm39) |
*56R |
probably null |
Het |
| Ckap5 |
A |
G |
2: 91,409,861 (GRCm39) |
T948A |
probably benign |
Het |
| Clec12a |
A |
T |
6: 129,340,949 (GRCm39) |
N243I |
possibly damaging |
Het |
| Col11a2 |
A |
G |
17: 34,270,757 (GRCm39) |
M462V |
probably benign |
Het |
| Col6a5 |
C |
T |
9: 105,822,833 (GRCm39) |
E175K |
unknown |
Het |
| Csnka2ip |
T |
C |
16: 64,300,667 (GRCm39) |
|
probably benign |
Het |
| D130040H23Rik |
C |
A |
8: 69,755,033 (GRCm39) |
T146N |
possibly damaging |
Het |
| Dennd5b |
T |
C |
6: 148,943,485 (GRCm39) |
|
probably benign |
Het |
| Fanci |
A |
G |
7: 79,045,726 (GRCm39) |
T23A |
probably benign |
Het |
| Fmnl1 |
T |
C |
11: 103,071,741 (GRCm39) |
Y83H |
probably damaging |
Het |
| Galnt13 |
C |
A |
2: 54,770,075 (GRCm39) |
T289N |
probably benign |
Het |
| Gcn1 |
A |
G |
5: 115,733,404 (GRCm39) |
D1074G |
probably benign |
Het |
| Gm10801 |
ATTTTCAGTTTTCTTGCCATATTCCACGTCCTGCACTGGACATTTCTAAATTTTCCACCTTTTTCAGTTTTC |
ATTTTCAGTTTTC |
2: 98,492,669 (GRCm39) |
|
probably null |
Het |
| Gnl1 |
T |
C |
17: 36,294,479 (GRCm39) |
I366T |
probably benign |
Het |
| Gtf2ird2 |
A |
T |
5: 134,245,161 (GRCm39) |
Y473F |
probably damaging |
Het |
| Ikzf1 |
T |
A |
11: 11,719,485 (GRCm39) |
D397E |
possibly damaging |
Het |
| Ints15 |
C |
G |
5: 143,300,795 (GRCm39) |
E19Q |
probably benign |
Het |
| Intu |
C |
T |
3: 40,637,789 (GRCm39) |
A425V |
possibly damaging |
Het |
| Irag1 |
A |
T |
7: 110,477,347 (GRCm39) |
|
probably null |
Het |
| Jakmip1 |
G |
A |
5: 37,343,084 (GRCm39) |
|
probably null |
Het |
| Lif |
C |
A |
11: 4,219,225 (GRCm39) |
P168Q |
possibly damaging |
Het |
| Myh11 |
A |
C |
16: 14,048,580 (GRCm39) |
S576A |
probably benign |
Het |
| Neb |
A |
G |
2: 52,041,425 (GRCm39) |
V6559A |
probably damaging |
Het |
| Nphs1 |
A |
G |
7: 30,162,625 (GRCm39) |
N368S |
probably damaging |
Het |
| Npsr1 |
G |
A |
9: 24,224,525 (GRCm39) |
V148I |
probably benign |
Het |
| Or51f1 |
C |
A |
7: 102,505,725 (GRCm39) |
G255* |
probably null |
Het |
| Or52ab4 |
T |
C |
7: 102,987,573 (GRCm39) |
F104S |
probably damaging |
Het |
| Or56a5 |
T |
A |
7: 104,792,832 (GRCm39) |
I223F |
probably damaging |
Het |
| Or5b111 |
A |
T |
19: 13,291,502 (GRCm39) |
L49Q |
probably damaging |
Het |
| Or7e166 |
C |
T |
9: 19,624,885 (GRCm39) |
T254I |
probably damaging |
Het |
| Patz1 |
T |
C |
11: 3,241,856 (GRCm39) |
C415R |
probably damaging |
Het |
| Pcdha9 |
A |
T |
18: 37,131,546 (GRCm39) |
N205I |
possibly damaging |
Het |
| Pcdhga12 |
A |
T |
18: 37,899,711 (GRCm39) |
E181V |
probably benign |
Het |
| Pcnx1 |
T |
C |
12: 82,018,158 (GRCm39) |
Y1333H |
probably damaging |
Het |
| Phf7 |
A |
T |
14: 30,970,106 (GRCm39) |
|
probably benign |
Het |
| Pomc |
T |
G |
12: 4,010,298 (GRCm39) |
S180A |
probably benign |
Het |
| Ppp1r7 |
T |
A |
1: 93,288,536 (GRCm39) |
|
probably null |
Het |
| Prrc2c |
A |
T |
1: 162,536,478 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GGC |
GGCCACGGCCGC |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Semp2l1 |
C |
T |
1: 32,585,685 (GRCm39) |
R75Q |
probably benign |
Het |
| Senp1 |
T |
C |
15: 97,940,782 (GRCm39) |
K664E |
probably damaging |
Het |
| Skint7 |
A |
G |
4: 111,839,198 (GRCm39) |
N164S |
possibly damaging |
Het |
| Smg1 |
C |
A |
7: 117,751,900 (GRCm39) |
R2775M |
probably null |
Het |
| Snrnp27 |
C |
T |
6: 86,653,226 (GRCm39) |
V131M |
probably damaging |
Het |
| Spire1 |
C |
A |
18: 67,629,686 (GRCm39) |
R357L |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,434,071 (GRCm39) |
V959I |
probably damaging |
Het |
| St6galnac2 |
T |
C |
11: 116,568,458 (GRCm39) |
H335R |
probably damaging |
Het |
| Stard13 |
C |
T |
5: 150,984,267 (GRCm39) |
R623H |
probably damaging |
Het |
| Syde1 |
T |
A |
10: 78,424,683 (GRCm39) |
E383V |
probably damaging |
Het |
| Taf10 |
A |
G |
7: 105,393,524 (GRCm39) |
M1T |
probably null |
Het |
| Traf3ip3 |
A |
G |
1: 192,869,415 (GRCm39) |
C257R |
probably damaging |
Het |
| Trpm8 |
G |
A |
1: 88,276,061 (GRCm39) |
|
probably benign |
Het |
| Veph1 |
A |
G |
3: 66,171,301 (GRCm39) |
|
probably null |
Het |
| Vmn1r169 |
A |
T |
7: 23,276,640 (GRCm39) |
T11S |
possibly damaging |
Het |
| Zfp773 |
T |
C |
7: 7,135,469 (GRCm39) |
T376A |
possibly 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 |
|
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 |
|
|
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'- ATGCTGCAGATGCCTATGAAAAC -3'
(R):5'- CACAGTGGAGTTGTTTTCTTCAC -3'
Sequencing Primer
(F):5'- TGCCTATGAAAACAAACAGATGTG -3'
(R):5'- GACATTCTCTTCTCTCTAGGTAGTAG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation