Incidental Mutation 'R7444:Wdhd1'
| ID |
577189 |
| 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 |
045520-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7444 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
47478401-47514314 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 47489405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 709
(C709*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141182
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111792]
[ENSMUST00000187531]
[ENSMUST00000227041]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000111792
AA Change: C672*
|
| SMART Domains |
Protein: ENSMUSP00000107422
Gene: ENSMUSG00000037572
AA Change: C672*
| 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
AA Change: C709*
|
| SMART Domains |
Protein: ENSMUSP00000141182
Gene: ENSMUSG00000037572
AA Change: C709*
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,984,787 (GRCm39) |
M2024V |
probably benign |
Het |
| Ahnak2 |
T |
A |
12: 112,745,831 (GRCm39) |
Q1673L |
|
Het |
| Atic |
G |
T |
1: 71,602,946 (GRCm39) |
V107L |
probably benign |
Het |
| B2m |
A |
G |
2: 121,981,416 (GRCm39) |
N44D |
probably damaging |
Het |
| Bud13 |
A |
G |
9: 46,209,799 (GRCm39) |
D636G |
probably damaging |
Het |
| Cenpk |
T |
C |
13: 104,386,025 (GRCm39) |
*307Q |
probably null |
Het |
| Cep68 |
A |
G |
11: 20,189,438 (GRCm39) |
S525P |
probably benign |
Het |
| Clca3a1 |
A |
G |
3: 144,733,193 (GRCm39) |
L105P |
probably damaging |
Het |
| Cntnap5a |
A |
T |
1: 116,220,079 (GRCm39) |
M630L |
probably benign |
Het |
| Cpb2 |
A |
G |
14: 75,520,782 (GRCm39) |
Y399C |
probably damaging |
Het |
| Dars2 |
G |
T |
1: 160,874,454 (GRCm39) |
P412T |
possibly damaging |
Het |
| E2f8 |
A |
T |
7: 48,517,927 (GRCm39) |
I665N |
probably damaging |
Het |
| Epha4 |
A |
T |
1: 77,364,553 (GRCm39) |
I652N |
probably damaging |
Het |
| Ermn |
ACTTCTTCTTCTTCTTCTTCTTC |
ACTTCTTCTTCTTCTTCTTC |
2: 57,938,079 (GRCm39) |
|
probably benign |
Het |
| Flrt3 |
T |
C |
2: 140,502,387 (GRCm39) |
T414A |
probably benign |
Het |
| Fmn1 |
A |
T |
2: 113,271,956 (GRCm39) |
Q108L |
unknown |
Het |
| Fosb |
T |
C |
7: 19,041,199 (GRCm39) |
D98G |
possibly damaging |
Het |
| Gm5773 |
T |
C |
3: 93,680,850 (GRCm39) |
L174S |
probably damaging |
Het |
| Hectd3 |
T |
A |
4: 116,854,124 (GRCm39) |
V258E |
possibly damaging |
Het |
| Inf2 |
T |
A |
12: 112,571,821 (GRCm39) |
W617R |
unknown |
Het |
| Irf7 |
T |
A |
7: 140,843,599 (GRCm39) |
I358F |
probably damaging |
Het |
| Lipo3 |
A |
G |
19: 33,535,663 (GRCm39) |
|
probably null |
Het |
| Lrig2 |
A |
T |
3: 104,404,829 (GRCm39) |
L93* |
probably null |
Het |
| Lzts1 |
C |
T |
8: 69,588,331 (GRCm39) |
V542M |
probably damaging |
Het |
| Mefv |
T |
A |
16: 3,533,386 (GRCm39) |
H295L |
probably benign |
Het |
| Naf1 |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
8: 67,313,200 (GRCm39) |
|
probably benign |
Het |
| Nat8f6 |
G |
C |
6: 85,786,112 (GRCm39) |
S12R |
probably benign |
Het |
| Nipal4 |
G |
T |
11: 46,057,062 (GRCm39) |
N14K |
probably benign |
Het |
| Nlrp4c |
T |
A |
7: 6,095,595 (GRCm39) |
C824* |
probably null |
Het |
| Npat |
T |
C |
9: 53,460,210 (GRCm39) |
S53P |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,477,464 (GRCm39) |
E549G |
probably damaging |
Het |
| Or10a5 |
T |
C |
7: 106,635,554 (GRCm39) |
L64P |
probably damaging |
Het |
| Or12e8 |
T |
A |
2: 87,188,444 (GRCm39) |
L219I |
possibly damaging |
Het |
| Or1r1 |
T |
C |
11: 73,874,576 (GRCm39) |
N286S |
probably damaging |
Het |
| Or4a80 |
T |
C |
2: 89,583,103 (GRCm39) |
K23R |
probably benign |
Het |
| Or4f62 |
A |
T |
2: 111,987,060 (GRCm39) |
I255F |
probably damaging |
Het |
| Or5p55 |
T |
A |
7: 107,566,811 (GRCm39) |
V69E |
probably damaging |
Het |
| Or6c6b |
T |
C |
10: 129,147,559 (GRCm39) |
M61T |
probably benign |
Het |
| Or6z6 |
C |
A |
7: 6,490,919 (GRCm39) |
W311L |
probably benign |
Het |
| Pcdhb11 |
T |
A |
18: 37,555,672 (GRCm39) |
I334K |
probably damaging |
Het |
| Pcdhb4 |
T |
C |
18: 37,442,505 (GRCm39) |
L605P |
probably damaging |
Het |
| Pced1a |
G |
T |
2: 130,263,979 (GRCm39) |
H224Q |
probably damaging |
Het |
| Pde6b |
C |
A |
5: 108,575,008 (GRCm39) |
S623* |
probably null |
Het |
| Pgr |
T |
C |
9: 8,946,883 (GRCm39) |
L708P |
probably damaging |
Het |
| Pnpla1 |
T |
C |
17: 29,097,455 (GRCm39) |
I207T |
possibly damaging |
Het |
| Prkag3 |
A |
T |
1: 74,786,425 (GRCm39) |
D173E |
probably benign |
Het |
| Prrt4 |
A |
G |
6: 29,176,516 (GRCm39) |
F270L |
probably benign |
Het |
| Ptdss2 |
C |
A |
7: 140,732,997 (GRCm39) |
P260Q |
possibly damaging |
Het |
| Rftn1 |
T |
A |
17: 50,354,435 (GRCm39) |
N309I |
probably damaging |
Het |
| Rgs12 |
T |
C |
5: 35,183,287 (GRCm39) |
V978A |
possibly damaging |
Het |
| Rnf111 |
T |
C |
9: 70,348,125 (GRCm39) |
Y816C |
probably damaging |
Het |
| Rnf208 |
C |
T |
2: 25,133,326 (GRCm39) |
P7S |
probably damaging |
Het |
| Rnf24 |
T |
C |
2: 131,155,215 (GRCm39) |
D4G |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,570,349 (GRCm39) |
I4925L |
probably benign |
Het |
| S1pr5 |
A |
T |
9: 21,156,378 (GRCm39) |
V16D |
possibly damaging |
Het |
| Scgb1b24 |
A |
G |
7: 33,443,566 (GRCm39) |
D75G |
possibly damaging |
Het |
| Setdb2 |
A |
T |
14: 59,660,794 (GRCm39) |
C116* |
probably null |
Het |
| Sh3rf2 |
G |
A |
18: 42,234,604 (GRCm39) |
R129Q |
probably damaging |
Het |
| Spata31d1d |
C |
T |
13: 59,875,007 (GRCm39) |
V843I |
probably benign |
Het |
| Steap3 |
A |
C |
1: 120,169,248 (GRCm39) |
F350V |
probably benign |
Het |
| Tecrl |
T |
A |
5: 83,502,915 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,066,590 (GRCm39) |
S2007T |
possibly damaging |
Het |
| Tomm7 |
C |
A |
5: 24,049,155 (GRCm39) |
|
probably benign |
Het |
| Trpv1 |
A |
C |
11: 73,135,030 (GRCm39) |
N409T |
possibly damaging |
Het |
| Try5 |
T |
A |
6: 41,288,299 (GRCm39) |
Y218F |
probably benign |
Het |
| Tspan5 |
A |
T |
3: 138,603,883 (GRCm39) |
I196F |
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 |
|
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'- TCAAAAGATCTACTGCGGGG -3'
(R):5'- CATGTGAACAGCATTTGTGGG -3'
Sequencing Primer
(F):5'- CCGTAATGAGATCTGATGCCC -3'
(R):5'- CCGGTGAGCATTTAATATTACCAGG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation