Incidental Mutation 'R6564:Wdhd1'
ID |
522371 |
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 |
044688-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6564 (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 47485499 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 821
(S821P)
|
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 benign
Transcript: ENSMUST00000111791
AA Change: S821P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000107421 Gene: ENSMUSG00000037572 AA Change: S821P
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: S784P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000107422 Gene: ENSMUSG00000037572 AA Change: S784P
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: S821P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000141182 Gene: ENSMUSG00000037572 AA Change: S821P
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228810
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.9%
|
Validation Efficiency |
98% (56/57) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
T |
A |
13: 119,622,613 (GRCm39) |
|
probably null |
Het |
4931429L15Rik |
C |
A |
9: 46,218,202 (GRCm39) |
D179Y |
probably damaging |
Het |
Abca1 |
A |
T |
4: 53,034,031 (GRCm39) |
L2233Q |
possibly damaging |
Het |
Abca12 |
T |
A |
1: 71,349,009 (GRCm39) |
E834V |
possibly damaging |
Het |
Abcc9 |
T |
C |
6: 142,548,834 (GRCm39) |
Y1318C |
probably damaging |
Het |
Adam15 |
C |
A |
3: 89,254,519 (GRCm39) |
R121L |
possibly damaging |
Het |
Afdn |
T |
A |
17: 14,116,351 (GRCm39) |
M1588K |
probably benign |
Het |
Akap9 |
T |
C |
5: 4,078,491 (GRCm39) |
S1849P |
probably damaging |
Het |
Aoc1l1 |
T |
C |
6: 48,954,509 (GRCm39) |
V549A |
probably benign |
Het |
Bag6 |
T |
C |
17: 35,359,347 (GRCm39) |
S213P |
probably damaging |
Het |
Bpifb9a |
T |
C |
2: 154,102,098 (GRCm39) |
V65A |
probably benign |
Het |
Chn1 |
T |
A |
2: 73,448,385 (GRCm39) |
I203F |
probably damaging |
Het |
Crnkl1 |
T |
A |
2: 145,770,165 (GRCm39) |
E226V |
possibly damaging |
Het |
Cspg4 |
A |
G |
9: 56,797,442 (GRCm39) |
E1302G |
probably benign |
Het |
Dnah5 |
G |
T |
15: 28,367,891 (GRCm39) |
A2759S |
probably benign |
Het |
Dtx1 |
T |
A |
5: 120,833,082 (GRCm39) |
T119S |
probably benign |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Ezr |
C |
T |
17: 7,010,246 (GRCm39) |
V268M |
probably damaging |
Het |
Fbxl15 |
T |
C |
19: 46,317,777 (GRCm39) |
V153A |
probably damaging |
Het |
Fkbpl |
C |
A |
17: 34,865,240 (GRCm39) |
A336E |
probably benign |
Het |
Gsg1l2 |
A |
G |
11: 67,677,330 (GRCm39) |
T200A |
possibly damaging |
Het |
H2ax |
T |
C |
9: 44,246,209 (GRCm39) |
Y51H |
probably damaging |
Het |
Ifi213 |
A |
C |
1: 173,422,862 (GRCm39) |
M1R |
probably null |
Het |
Kcnt1 |
A |
C |
2: 25,801,063 (GRCm39) |
D1045A |
probably benign |
Het |
Kdm4a |
C |
A |
4: 118,034,636 (GRCm39) |
A32S |
probably benign |
Het |
Klkb1 |
A |
T |
8: 45,726,671 (GRCm39) |
V444E |
probably damaging |
Het |
Mccc1 |
T |
C |
3: 36,030,825 (GRCm39) |
T414A |
probably damaging |
Het |
Miga1 |
A |
C |
3: 151,990,959 (GRCm39) |
N367K |
probably damaging |
Het |
Mmp7 |
A |
G |
9: 7,695,185 (GRCm39) |
D49G |
probably benign |
Het |
Nlrp1a |
A |
G |
11: 71,014,398 (GRCm39) |
L284P |
probably damaging |
Het |
Or7g33 |
G |
A |
9: 19,448,506 (GRCm39) |
T240I |
possibly damaging |
Het |
Or9s15 |
T |
C |
1: 92,524,285 (GRCm39) |
S15P |
probably benign |
Het |
Pbld1 |
T |
A |
10: 62,907,806 (GRCm39) |
I224N |
possibly damaging |
Het |
Pih1d1 |
A |
T |
7: 44,809,243 (GRCm39) |
R276W |
probably damaging |
Het |
Plekhg1 |
G |
T |
10: 3,914,153 (GRCm39) |
V1292L |
probably damaging |
Het |
Prex2 |
A |
G |
1: 11,171,285 (GRCm39) |
|
probably null |
Het |
Rbm6 |
T |
C |
9: 107,710,697 (GRCm39) |
Y498C |
probably damaging |
Het |
Reps1 |
T |
A |
10: 17,998,140 (GRCm39) |
|
probably null |
Het |
Ruvbl1 |
T |
A |
6: 88,456,208 (GRCm39) |
I154N |
possibly damaging |
Het |
Slc4a5 |
T |
G |
6: 83,257,042 (GRCm39) |
F616V |
possibly damaging |
Het |
Spag5 |
A |
T |
11: 78,206,401 (GRCm39) |
T798S |
probably damaging |
Het |
Spam1 |
T |
A |
6: 24,796,355 (GRCm39) |
I102K |
possibly damaging |
Het |
Sptbn2 |
C |
A |
19: 4,782,052 (GRCm39) |
F430L |
probably damaging |
Het |
Svs3a |
T |
A |
2: 164,131,270 (GRCm39) |
I21K |
probably damaging |
Het |
Tet3 |
T |
A |
6: 83,363,052 (GRCm39) |
I842L |
possibly damaging |
Het |
Tlr2 |
T |
A |
3: 83,745,002 (GRCm39) |
K360N |
probably benign |
Het |
Tmem45b |
C |
G |
9: 31,339,301 (GRCm39) |
W138S |
probably damaging |
Het |
Tpgs2 |
T |
C |
18: 25,291,344 (GRCm39) |
E40G |
probably damaging |
Het |
Traj40 |
T |
C |
14: 54,415,399 (GRCm39) |
|
probably benign |
Het |
Trpm5 |
A |
G |
7: 142,626,507 (GRCm39) |
S125P |
probably damaging |
Het |
Ttc3 |
G |
T |
16: 94,243,470 (GRCm39) |
C1158F |
probably damaging |
Het |
Tubg1 |
T |
C |
11: 101,011,715 (GRCm39) |
I74T |
probably damaging |
Het |
Vav2 |
A |
T |
2: 27,169,197 (GRCm39) |
|
probably null |
Het |
Wbp4 |
G |
T |
14: 79,704,868 (GRCm39) |
H201N |
probably damaging |
Het |
Wsb2 |
A |
T |
5: 117,508,625 (GRCm39) |
|
probably null |
Het |
Zic5 |
A |
G |
14: 122,696,833 (GRCm39) |
L594P |
unknown |
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 |
|
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'- GAAACAGTGTCCTCTCTGTCC -3'
(R):5'- AGCTGTCTTGTAAACTGGAACGAG -3'
Sequencing Primer
(F):5'- AACTTGACTTCTGACCCGTGG -3'
(R):5'- AACGAGAATTCCGCTGTGTG -3'
|
Posted On |
2018-06-06 |