Incidental Mutation 'R4994:Wdhd1'
| ID |
385126 |
| 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 |
042588-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4994 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
47478401-47514314 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 47506111 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141182
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111790]
[ENSMUST00000111791]
[ENSMUST00000111792]
[ENSMUST00000187531]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000111790
|
| SMART Domains |
Protein: ENSMUSP00000107420
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 |
2.4e-13 |
PFAM |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000122699
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139124
|
| 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 |
|
| Meta Mutation Damage Score |
0.9497 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (79/79) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,208,962 (GRCm39) |
E364G |
probably benign |
Het |
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Abcb4 |
A |
G |
5: 8,978,524 (GRCm39) |
T557A |
probably damaging |
Het |
| Acadm |
C |
T |
3: 153,635,221 (GRCm39) |
E298K |
probably damaging |
Het |
| Adrb3 |
T |
C |
8: 27,717,855 (GRCm39) |
|
probably null |
Het |
| Aldh1b1 |
A |
G |
4: 45,803,128 (GRCm39) |
Y222C |
possibly damaging |
Het |
| Ankrd6 |
A |
G |
4: 32,860,387 (GRCm39) |
Y19H |
probably damaging |
Het |
| Arhgap21 |
T |
A |
2: 20,854,701 (GRCm39) |
T1554S |
probably benign |
Het |
| BC043934 |
T |
C |
9: 96,319,173 (GRCm39) |
|
noncoding transcript |
Het |
| Birc6 |
A |
G |
17: 74,901,319 (GRCm39) |
|
probably benign |
Het |
| Blm |
A |
C |
7: 80,108,573 (GRCm39) |
F1357C |
probably benign |
Het |
| Cd209a |
T |
C |
8: 3,797,713 (GRCm39) |
|
probably null |
Het |
| Cdk7 |
G |
A |
13: 100,854,103 (GRCm39) |
H129Y |
probably damaging |
Het |
| Clec14a |
G |
T |
12: 58,315,070 (GRCm39) |
P184Q |
probably damaging |
Het |
| Cma1 |
T |
A |
14: 56,179,128 (GRCm39) |
I243F |
probably damaging |
Het |
| Cntnap3 |
G |
T |
13: 64,909,798 (GRCm39) |
T769K |
possibly damaging |
Het |
| Col5a1 |
A |
C |
2: 27,922,751 (GRCm39) |
K273T |
possibly damaging |
Het |
| Csnk1e |
A |
G |
15: 79,309,129 (GRCm39) |
Y266H |
probably damaging |
Het |
| Cyb5d1 |
A |
G |
11: 69,284,597 (GRCm39) |
L185S |
probably damaging |
Het |
| Dennd5b |
T |
C |
6: 148,942,998 (GRCm39) |
|
probably null |
Het |
| Dipk2a |
C |
A |
9: 94,419,486 (GRCm39) |
R148L |
probably benign |
Het |
| Drp2 |
G |
A |
X: 133,342,065 (GRCm39) |
R567H |
probably damaging |
Homo |
| Dzank1 |
T |
G |
2: 144,364,486 (GRCm39) |
D37A |
probably damaging |
Het |
| Echdc2 |
A |
G |
4: 108,022,825 (GRCm39) |
I34V |
probably benign |
Het |
| Esm1 |
A |
T |
13: 113,349,965 (GRCm39) |
R128S |
probably benign |
Het |
| Fbh1 |
T |
A |
2: 11,769,041 (GRCm39) |
I251F |
probably damaging |
Het |
| Fbrsl1 |
A |
G |
5: 110,595,817 (GRCm39) |
S73P |
probably damaging |
Het |
| Fbxo6 |
A |
T |
4: 148,233,948 (GRCm39) |
S49R |
probably damaging |
Het |
| Gm17093 |
A |
T |
14: 44,756,779 (GRCm39) |
Q82L |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,348,067 (GRCm39) |
|
probably null |
Het |
| Hspa4l |
C |
A |
3: 40,700,081 (GRCm39) |
|
probably benign |
Het |
| Il3ra |
G |
A |
14: 14,351,080 (GRCm38) |
A201T |
probably benign |
Het |
| Irx5 |
T |
A |
8: 93,087,409 (GRCm39) |
V447E |
probably damaging |
Het |
| Kif14 |
G |
T |
1: 136,410,697 (GRCm39) |
L668F |
probably damaging |
Het |
| Lag3 |
T |
A |
6: 124,881,416 (GRCm39) |
R519W |
unknown |
Het |
| Lgr4 |
A |
G |
2: 109,842,283 (GRCm39) |
N756S |
probably damaging |
Het |
| Lingo4 |
T |
A |
3: 94,310,308 (GRCm39) |
H415Q |
probably benign |
Het |
| Lingo4 |
A |
G |
3: 94,309,848 (GRCm39) |
H262R |
probably benign |
Het |
| Lkaaear1 |
C |
A |
2: 181,339,376 (GRCm39) |
G25* |
probably null |
Het |
| Maco1 |
A |
G |
4: 134,555,610 (GRCm39) |
Y288H |
probably damaging |
Het |
| Marf1 |
T |
C |
16: 13,932,095 (GRCm39) |
K1641E |
probably benign |
Het |
| Mtfmt |
T |
C |
9: 65,351,133 (GRCm39) |
|
probably benign |
Het |
| Mtif3 |
G |
A |
5: 146,893,598 (GRCm39) |
T203M |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,407,430 (GRCm39) |
I2740T |
probably benign |
Het |
| Nrdc |
A |
G |
4: 108,903,809 (GRCm39) |
T720A |
probably benign |
Het |
| Or2d2 |
T |
C |
7: 106,728,271 (GRCm39) |
T110A |
probably benign |
Het |
| Peak1 |
T |
A |
9: 56,148,560 (GRCm39) |
D32V |
possibly damaging |
Het |
| Pigr |
G |
A |
1: 130,769,554 (GRCm39) |
D122N |
probably benign |
Het |
| Plekhg3 |
A |
G |
12: 76,612,311 (GRCm39) |
R391G |
possibly damaging |
Het |
| Ppfia3 |
T |
C |
7: 44,990,542 (GRCm39) |
D919G |
probably damaging |
Het |
| Pramel23 |
T |
A |
4: 143,424,939 (GRCm39) |
Q168L |
possibly damaging |
Het |
| Rnase2b |
T |
A |
14: 51,400,208 (GRCm39) |
D96E |
possibly damaging |
Het |
| Rsf1 |
CGGCGGC |
CGGCGGCCGCGGCGGC |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Serpina3f |
A |
G |
12: 104,186,615 (GRCm39) |
T394A |
probably benign |
Het |
| Six3 |
A |
G |
17: 85,928,720 (GRCm39) |
N18S |
possibly damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,825,285 (GRCm39) |
|
probably null |
Het |
| Slc35f6 |
A |
G |
5: 30,805,427 (GRCm39) |
N21S |
probably damaging |
Het |
| Slc39a6 |
A |
T |
18: 24,729,351 (GRCm39) |
I454N |
probably damaging |
Het |
| Slc40a1 |
T |
A |
1: 45,948,824 (GRCm39) |
E485D |
probably damaging |
Het |
| Sort1 |
G |
A |
3: 108,235,385 (GRCm39) |
C255Y |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,785,771 (GRCm39) |
T624S |
probably benign |
Het |
| Stk33 |
T |
A |
7: 108,939,605 (GRCm39) |
I99L |
probably benign |
Het |
| Taf4b |
T |
A |
18: 15,031,100 (GRCm39) |
I828N |
probably damaging |
Het |
| Terf2 |
T |
C |
8: 107,803,110 (GRCm39) |
|
probably benign |
Het |
| Timd4 |
C |
T |
11: 46,706,344 (GRCm39) |
R49C |
probably damaging |
Het |
| Tpte |
T |
C |
8: 22,808,362 (GRCm39) |
S166P |
probably benign |
Het |
| Trabd2b |
T |
C |
4: 114,264,052 (GRCm39) |
L13P |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,975,476 (GRCm39) |
Y247* |
probably null |
Het |
| Trnt1 |
C |
T |
6: 106,755,853 (GRCm39) |
Q303* |
probably null |
Het |
| Tspyl5 |
T |
A |
15: 33,687,201 (GRCm39) |
Q248L |
possibly damaging |
Het |
| Ubxn7 |
A |
T |
16: 32,200,322 (GRCm39) |
K337N |
probably damaging |
Het |
| Unc13a |
T |
A |
8: 72,095,816 (GRCm39) |
I1234F |
probably benign |
Het |
| Vmn1r127 |
A |
T |
7: 21,052,943 (GRCm39) |
F282I |
probably damaging |
Het |
| Zfp605 |
A |
G |
5: 110,275,352 (GRCm39) |
K157E |
probably damaging |
Het |
| Zhx2 |
T |
A |
15: 57,684,755 (GRCm39) |
D41E |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATGTATTCAATCCTTAGCACCAC -3'
(R):5'- CTCCTGGCTAACAAAATGACATG -3'
Sequencing Primer
(F):5'- TGTCACCAAGCCTGCACTG -3'
(R):5'- GGCTAACAAAATGACATGATATTTGC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation