Incidental Mutation 'IGL03355:Wdhd1'
| ID |
419903 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wdhd1
|
| Ensembl Gene |
ENSMUSG00000037572 |
| Gene Name |
WD repeat and HMG-box DNA binding protein 1 |
| Synonyms |
AND-1, D630024B06Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03355
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
47478401-47514314 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47481346 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1024
(S1024P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141182
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111791]
[ENSMUST00000111792]
[ENSMUST00000187531]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111791
AA Change: S1024P
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000107421
Gene: ENSMUSG00000037572
AA Change: S1024P
| 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 |
possibly damaging
Transcript: ENSMUST00000111792
AA Change: S987P
PolyPhen 2
Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000107422
Gene: ENSMUSG00000037572
AA Change: S987P
| 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 |
possibly damaging
Transcript: ENSMUST00000187531
AA Change: S1024P
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000141182
Gene: ENSMUSG00000037572
AA Change: S1024P
| 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: ENSMUST00000228810
|
| Coding Region Coverage |
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actrt1 |
T |
C |
X: 45,418,624 (GRCm39) |
V213A |
probably benign |
Het |
| Adam28 |
A |
T |
14: 68,872,252 (GRCm39) |
|
probably benign |
Het |
| Apeh |
T |
C |
9: 107,963,644 (GRCm39) |
H557R |
probably benign |
Het |
| Atmin |
T |
A |
8: 117,684,164 (GRCm39) |
L608* |
probably null |
Het |
| B3gnt5 |
A |
T |
16: 19,587,903 (GRCm39) |
M41L |
probably benign |
Het |
| Best3 |
T |
C |
10: 116,829,010 (GRCm39) |
F97L |
possibly damaging |
Het |
| Chmp1b2 |
C |
A |
X: 106,831,889 (GRCm39) |
V180F |
possibly damaging |
Het |
| Col7a1 |
G |
A |
9: 108,807,228 (GRCm39) |
V2486M |
unknown |
Het |
| Crym |
T |
C |
7: 119,798,536 (GRCm39) |
|
probably null |
Het |
| Cubn |
T |
C |
2: 13,482,868 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
A |
G |
1: 46,158,464 (GRCm39) |
D349G |
probably benign |
Het |
| Eea1 |
T |
C |
10: 95,878,074 (GRCm39) |
|
probably benign |
Het |
| Emc1 |
C |
T |
4: 139,098,904 (GRCm39) |
|
probably benign |
Het |
| Eps8 |
T |
C |
6: 137,489,143 (GRCm39) |
|
probably benign |
Het |
| Ereg |
A |
G |
5: 91,236,440 (GRCm39) |
|
probably benign |
Het |
| Faah |
G |
A |
4: 115,859,725 (GRCm39) |
P369S |
probably benign |
Het |
| Fam135a |
A |
T |
1: 24,068,249 (GRCm39) |
N703K |
possibly damaging |
Het |
| Frmpd1 |
T |
C |
4: 45,279,140 (GRCm39) |
S622P |
probably damaging |
Het |
| Gm10030 |
A |
G |
9: 110,835,841 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr179 |
A |
T |
11: 97,228,434 (GRCm39) |
S1240R |
possibly damaging |
Het |
| Hax1 |
A |
T |
3: 89,904,754 (GRCm39) |
H146Q |
possibly damaging |
Het |
| Ift46 |
A |
G |
9: 44,693,445 (GRCm39) |
N31D |
possibly damaging |
Het |
| Kel |
C |
T |
6: 41,675,821 (GRCm39) |
|
probably null |
Het |
| Khk |
A |
T |
5: 31,086,904 (GRCm39) |
I108L |
probably benign |
Het |
| Morc4 |
T |
C |
X: 138,750,431 (GRCm39) |
N375S |
probably null |
Het |
| Mta3 |
A |
T |
17: 84,107,474 (GRCm39) |
|
probably benign |
Het |
| Nacc2 |
T |
C |
2: 25,952,249 (GRCm39) |
K369R |
probably damaging |
Het |
| Nkap |
T |
C |
X: 36,403,323 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
T |
11: 58,928,618 (GRCm39) |
L6016Q |
probably damaging |
Het |
| Or52e2 |
T |
C |
7: 102,804,408 (GRCm39) |
E182G |
probably damaging |
Het |
| Or8c9 |
A |
T |
9: 38,240,952 (GRCm39) |
Q20L |
probably benign |
Het |
| Pde4c |
T |
A |
8: 71,199,244 (GRCm39) |
L182Q |
probably damaging |
Het |
| Pla2g10 |
G |
T |
16: 13,548,284 (GRCm39) |
|
probably null |
Het |
| Rap1gap2 |
T |
A |
11: 74,303,170 (GRCm39) |
I426F |
probably damaging |
Het |
| Rbm33 |
C |
A |
5: 28,596,059 (GRCm39) |
|
probably benign |
Het |
| Rnf139 |
C |
A |
15: 58,771,881 (GRCm39) |
D635E |
probably benign |
Het |
| Sar1a |
T |
C |
10: 61,520,718 (GRCm39) |
V15A |
possibly damaging |
Het |
| Scarb1 |
A |
C |
5: 125,366,766 (GRCm39) |
S56A |
probably benign |
Het |
| Scn3a |
T |
C |
2: 65,290,912 (GRCm39) |
K1945E |
possibly damaging |
Het |
| Sec62 |
G |
A |
3: 30,864,071 (GRCm39) |
G118R |
unknown |
Het |
| Sgce |
T |
A |
6: 4,689,738 (GRCm39) |
Q356L |
probably damaging |
Het |
| Slco4c1 |
A |
T |
1: 96,770,232 (GRCm39) |
Y277* |
probably null |
Het |
| Smarca4 |
C |
T |
9: 21,547,132 (GRCm39) |
T219I |
probably benign |
Het |
| Sphkap |
A |
T |
1: 83,258,224 (GRCm39) |
I173N |
probably damaging |
Het |
| Spred3 |
C |
T |
7: 28,860,997 (GRCm39) |
C394Y |
unknown |
Het |
| Stra6l |
A |
G |
4: 45,873,689 (GRCm39) |
D283G |
probably benign |
Het |
| Tipin |
A |
T |
9: 64,195,406 (GRCm39) |
Q4L |
probably benign |
Het |
| Tmprss11c |
T |
A |
5: 86,379,730 (GRCm39) |
I380F |
probably benign |
Het |
| Tymp |
T |
C |
15: 89,259,219 (GRCm39) |
D195G |
possibly damaging |
Het |
| Ugt2b34 |
T |
A |
5: 87,054,544 (GRCm39) |
Y79F |
probably benign |
Het |
| Vmn2r16 |
T |
A |
5: 109,511,580 (GRCm39) |
S596T |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation