Incidental Mutation 'R6500:Wdhd1'
| ID |
519692 |
| 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 |
044632-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6500 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
47478401-47514314 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 47488217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000111791
|
| SMART Domains |
Protein: ENSMUSP00000107421
Gene: ENSMUSG00000037572
| 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 null
Transcript: ENSMUST00000111792
|
| SMART Domains |
Protein: ENSMUSP00000107422
Gene: ENSMUSG00000037572
| 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 null
Transcript: ENSMUST00000187531
|
| SMART Domains |
Protein: ENSMUSP00000141182
Gene: ENSMUSG00000037572
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (53/54) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam21 |
A |
G |
12: 81,606,380 (GRCm39) |
F461L |
probably benign |
Het |
| Adamtsl3 |
C |
A |
7: 82,227,818 (GRCm39) |
H1334Q |
probably benign |
Het |
| Adgrf1 |
A |
G |
17: 43,621,263 (GRCm39) |
N500S |
probably damaging |
Het |
| Afdn |
A |
G |
17: 14,042,634 (GRCm39) |
D335G |
possibly damaging |
Het |
| Arhgap19 |
G |
A |
19: 41,775,077 (GRCm39) |
T178M |
probably damaging |
Het |
| Chac2 |
T |
C |
11: 30,927,625 (GRCm39) |
D86G |
probably damaging |
Het |
| Clhc1 |
T |
C |
11: 29,510,542 (GRCm39) |
S209P |
possibly damaging |
Het |
| Col1a2 |
G |
A |
6: 4,515,517 (GRCm39) |
G127S |
unknown |
Het |
| Coro2b |
A |
G |
9: 62,396,606 (GRCm39) |
F51L |
probably benign |
Het |
| Cux2 |
A |
G |
5: 122,002,789 (GRCm39) |
S1139P |
probably benign |
Het |
| Cyth3 |
A |
T |
5: 143,693,595 (GRCm39) |
I379F |
probably damaging |
Het |
| Dock2 |
A |
T |
11: 34,312,822 (GRCm39) |
L240H |
possibly damaging |
Het |
| Ercc6 |
A |
G |
14: 32,248,780 (GRCm39) |
K444E |
probably damaging |
Het |
| Fam3b |
A |
G |
16: 97,302,101 (GRCm39) |
L52P |
possibly damaging |
Het |
| Fat4 |
T |
G |
3: 39,035,418 (GRCm39) |
Y3023* |
probably null |
Het |
| Gad1 |
A |
T |
2: 70,423,780 (GRCm39) |
N396Y |
probably damaging |
Het |
| Gbp2b |
A |
G |
3: 142,317,252 (GRCm39) |
E536G |
probably benign |
Het |
| Gm11564 |
G |
A |
11: 99,706,061 (GRCm39) |
T123I |
unknown |
Het |
| Herc2 |
G |
T |
7: 55,796,393 (GRCm39) |
E1922* |
probably null |
Het |
| Hrh4 |
G |
T |
18: 13,155,525 (GRCm39) |
V355F |
probably damaging |
Het |
| Isyna1 |
A |
G |
8: 71,047,339 (GRCm39) |
I21V |
probably damaging |
Het |
| Jak1 |
T |
C |
4: 101,039,130 (GRCm39) |
D165G |
probably benign |
Het |
| Klhl38 |
C |
A |
15: 58,185,809 (GRCm39) |
G307* |
probably null |
Het |
| Krt77 |
T |
C |
15: 101,772,772 (GRCm39) |
N269S |
probably damaging |
Het |
| Lrp4 |
T |
A |
2: 91,322,765 (GRCm39) |
I1118N |
possibly damaging |
Het |
| Ly6i |
T |
C |
15: 74,853,833 (GRCm39) |
Y30C |
probably damaging |
Het |
| Magi2 |
A |
G |
5: 20,807,345 (GRCm39) |
E620G |
possibly damaging |
Het |
| Mbl2 |
A |
G |
19: 30,216,839 (GRCm39) |
D217G |
possibly damaging |
Het |
| Mogat2 |
T |
A |
7: 98,871,553 (GRCm39) |
I253F |
probably benign |
Het |
| Mpped2 |
T |
C |
2: 106,691,925 (GRCm39) |
L210P |
probably damaging |
Het |
| Nav3 |
C |
A |
10: 109,600,617 (GRCm39) |
A1337S |
probably damaging |
Het |
| Ncaph2 |
T |
A |
15: 89,248,407 (GRCm39) |
V206E |
probably benign |
Het |
| Nlgn1 |
T |
C |
3: 25,488,094 (GRCm39) |
E747G |
possibly damaging |
Het |
| Nlrc3 |
C |
T |
16: 3,770,308 (GRCm39) |
G237D |
possibly damaging |
Het |
| Nsun7 |
A |
G |
5: 66,452,827 (GRCm39) |
D514G |
probably benign |
Het |
| Or10al5 |
C |
G |
17: 38,063,577 (GRCm39) |
D277E |
probably damaging |
Het |
| Pals2 |
A |
G |
6: 50,175,146 (GRCm39) |
K500E |
possibly damaging |
Het |
| Pcnx2 |
C |
A |
8: 126,480,224 (GRCm39) |
V2028F |
probably damaging |
Het |
| Pdx1 |
G |
T |
5: 147,207,440 (GRCm39) |
W131L |
probably damaging |
Het |
| Pkdrej |
C |
T |
15: 85,703,747 (GRCm39) |
V730I |
probably damaging |
Het |
| Plcg1 |
T |
A |
2: 160,596,487 (GRCm39) |
Y669N |
probably damaging |
Het |
| Plpp1 |
G |
T |
13: 113,003,454 (GRCm39) |
W226L |
probably damaging |
Het |
| Sfxn1 |
G |
A |
13: 54,242,918 (GRCm39) |
V59I |
probably benign |
Het |
| Shank1 |
T |
C |
7: 43,976,645 (GRCm39) |
I581T |
unknown |
Het |
| Slc35f6 |
A |
C |
5: 30,814,164 (GRCm39) |
K150N |
possibly damaging |
Het |
| Slc5a7 |
A |
T |
17: 54,591,231 (GRCm39) |
S234T |
probably benign |
Het |
| Smg6 |
C |
T |
11: 74,821,331 (GRCm39) |
T534I |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,573,724 (GRCm39) |
T3649I |
probably benign |
Het |
| Vmn1r158 |
T |
C |
7: 22,490,078 (GRCm39) |
T44A |
possibly damaging |
Het |
| Vmn1r217 |
A |
T |
13: 23,298,073 (GRCm39) |
Y276* |
probably null |
Het |
| Vmn2r100 |
T |
A |
17: 19,742,355 (GRCm39) |
I243N |
probably damaging |
Het |
| Vwde |
T |
C |
6: 13,208,404 (GRCm39) |
|
probably null |
Het |
| Washc4 |
C |
A |
10: 83,394,687 (GRCm39) |
P306T |
probably damaging |
Het |
| Xpo6 |
T |
C |
7: 125,770,262 (GRCm39) |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTACCCTAGAAGGTAGAATTTAGTCC -3'
(R):5'- GCCCAGTATGAGAGAGCTGTTC -3'
Sequencing Primer
(F):5'- TTAAGAAATTCTACCTAGGGCTGGG -3'
(R):5'- CAGTATGAGAGAGCTGTTCAGTTTTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation