Incidental Mutation 'R5347:Wdhd1'
ID |
422698 |
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 |
042926-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5347 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
47478401-47514314 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 47506181 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 244
(Y244*)
|
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
AA Change: Y244*
|
SMART Domains |
Protein: ENSMUSP00000107420 Gene: ENSMUSG00000037572 AA Change: Y244*
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
AA Change: Y244*
|
SMART Domains |
Protein: ENSMUSP00000107421 Gene: ENSMUSG00000037572 AA Change: Y244*
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
AA Change: Y244*
|
SMART Domains |
Protein: ENSMUSP00000107422 Gene: ENSMUSG00000037572 AA Change: Y244*
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
AA Change: Y244*
|
SMART Domains |
Protein: ENSMUSP00000141182 Gene: ENSMUSG00000037572 AA Change: Y244*
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
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 |
Acvr2a |
A |
G |
2: 48,782,166 (GRCm39) |
Y233C |
probably damaging |
Het |
Agl |
A |
G |
3: 116,584,814 (GRCm39) |
S169P |
probably damaging |
Het |
Arid1b |
C |
T |
17: 5,341,332 (GRCm39) |
Q879* |
probably null |
Het |
Bbs2 |
A |
G |
8: 94,819,178 (GRCm39) |
S64P |
probably damaging |
Het |
Bend7 |
G |
A |
2: 4,768,052 (GRCm39) |
R336Q |
probably damaging |
Het |
Cacna2d2 |
A |
G |
9: 107,391,313 (GRCm39) |
T447A |
probably benign |
Het |
Ccdc168 |
T |
A |
1: 44,096,955 (GRCm39) |
Y1381F |
probably benign |
Het |
Ccdc169 |
A |
T |
3: 55,049,740 (GRCm39) |
|
probably benign |
Het |
Cdan1 |
A |
G |
2: 120,560,546 (GRCm39) |
S275P |
possibly damaging |
Het |
Cdh15 |
A |
G |
8: 123,588,802 (GRCm39) |
N292S |
probably null |
Het |
Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
Cnnm1 |
A |
G |
19: 43,430,301 (GRCm39) |
H473R |
probably benign |
Het |
Cplx4 |
G |
A |
18: 66,103,157 (GRCm39) |
|
probably benign |
Het |
Crb1 |
C |
T |
1: 139,265,109 (GRCm39) |
G103E |
probably damaging |
Het |
Dnaja3 |
T |
A |
16: 4,512,346 (GRCm39) |
V250E |
possibly damaging |
Het |
Dync2h1 |
T |
G |
9: 7,129,727 (GRCm39) |
Q1757P |
probably damaging |
Het |
Edem3 |
A |
G |
1: 151,683,202 (GRCm39) |
Q626R |
probably damaging |
Het |
Eif2b1 |
T |
C |
5: 124,716,862 (GRCm39) |
|
probably benign |
Het |
Esf1 |
T |
A |
2: 139,996,801 (GRCm39) |
K521* |
probably null |
Het |
Fbxl3 |
A |
C |
14: 103,320,730 (GRCm39) |
V239G |
probably damaging |
Het |
Fhip2a |
A |
G |
19: 57,367,051 (GRCm39) |
D198G |
probably benign |
Het |
Fto |
A |
G |
8: 92,118,107 (GRCm39) |
|
probably benign |
Het |
Gm5773 |
T |
C |
3: 93,681,090 (GRCm39) |
L254P |
probably damaging |
Het |
Gm5916 |
A |
T |
9: 36,032,012 (GRCm39) |
W91R |
probably benign |
Het |
Gpam |
A |
T |
19: 55,077,269 (GRCm39) |
L174H |
probably damaging |
Het |
Grk1 |
G |
A |
8: 13,464,478 (GRCm39) |
R450Q |
probably damaging |
Het |
Hc |
G |
A |
2: 34,927,636 (GRCm39) |
A326V |
probably benign |
Het |
Hectd4 |
T |
C |
5: 121,442,511 (GRCm39) |
I1317T |
probably benign |
Het |
Hlcs |
A |
G |
16: 94,068,383 (GRCm39) |
V426A |
possibly damaging |
Het |
Ighv1-23 |
T |
C |
12: 114,728,376 (GRCm39) |
|
probably benign |
Het |
Itgax |
G |
A |
7: 127,740,474 (GRCm39) |
V754I |
probably benign |
Het |
Krt24 |
T |
A |
11: 99,173,556 (GRCm39) |
D255V |
probably damaging |
Het |
Lnpk |
T |
C |
2: 74,403,935 (GRCm39) |
|
probably benign |
Het |
Loxhd1 |
G |
T |
18: 77,454,237 (GRCm39) |
R478L |
probably damaging |
Het |
Lrrc56 |
A |
G |
7: 140,789,537 (GRCm39) |
Q518R |
probably benign |
Het |
Mbl1 |
A |
T |
14: 40,880,786 (GRCm39) |
I225F |
probably damaging |
Het |
Mmp21 |
T |
C |
7: 133,277,651 (GRCm39) |
S392G |
probably benign |
Het |
Mug2 |
T |
G |
6: 122,058,551 (GRCm39) |
F1318V |
probably damaging |
Het |
Myo5c |
A |
G |
9: 75,202,487 (GRCm39) |
N1447S |
probably null |
Het |
Nbea |
A |
C |
3: 55,948,297 (GRCm39) |
V543G |
probably damaging |
Het |
Necap1 |
A |
G |
6: 122,857,706 (GRCm39) |
I96V |
probably benign |
Het |
Nr3c2 |
T |
A |
8: 77,937,377 (GRCm39) |
M872K |
possibly damaging |
Het |
Nrf1 |
C |
T |
6: 30,118,967 (GRCm39) |
T362M |
probably benign |
Het |
Or14j2 |
T |
C |
17: 37,885,618 (GRCm39) |
E232G |
probably damaging |
Het |
Pcare |
A |
G |
17: 72,056,930 (GRCm39) |
S916P |
probably benign |
Het |
Plekhm3 |
T |
C |
1: 64,859,149 (GRCm39) |
E685G |
probably damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Sbk3 |
A |
T |
7: 4,970,422 (GRCm39) |
S316T |
probably benign |
Het |
Serpinb9e |
T |
C |
13: 33,441,767 (GRCm39) |
L233P |
probably damaging |
Het |
Set |
T |
A |
2: 29,959,422 (GRCm39) |
S132T |
possibly damaging |
Het |
Slc17a4 |
C |
T |
13: 24,092,800 (GRCm39) |
E11K |
possibly damaging |
Het |
Slc22a6 |
T |
A |
19: 8,595,917 (GRCm39) |
N86K |
possibly damaging |
Het |
Slco1a6 |
A |
G |
6: 142,032,325 (GRCm39) |
L600P |
probably damaging |
Het |
Sp8 |
A |
G |
12: 118,812,246 (GRCm39) |
K34E |
possibly damaging |
Het |
Spen |
T |
A |
4: 141,198,796 (GRCm39) |
E3254V |
probably benign |
Het |
Tcf12 |
G |
A |
9: 71,792,525 (GRCm39) |
P53S |
probably damaging |
Het |
Tcf3 |
A |
G |
10: 80,246,045 (GRCm39) |
V626A |
probably damaging |
Het |
Trpc4ap |
A |
G |
2: 155,514,908 (GRCm39) |
|
probably null |
Het |
Ttc3 |
T |
A |
16: 94,230,479 (GRCm39) |
V892D |
probably damaging |
Het |
Tub |
G |
T |
7: 108,625,978 (GRCm39) |
R243L |
possibly damaging |
Het |
Tubgcp5 |
A |
G |
7: 55,473,433 (GRCm39) |
Y837C |
probably damaging |
Het |
Utp25 |
A |
T |
1: 192,810,687 (GRCm39) |
D105E |
probably benign |
Het |
Xdh |
T |
A |
17: 74,232,027 (GRCm39) |
T228S |
probably benign |
Het |
Zfp418 |
A |
C |
7: 7,185,534 (GRCm39) |
Q499P |
probably benign |
Het |
Zfpm1 |
G |
A |
8: 123,062,269 (GRCm39) |
E443K |
possibly damaging |
Het |
Zfy1 |
T |
C |
Y: 725,950 (GRCm39) |
H605R |
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 |
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'- ATGTATTCAATCCTTAGCACCACC -3'
(R):5'- CTCCTGGCTAACAAAATGACATG -3'
Sequencing Primer
(F):5'- CTACAGAACATTATGGCGTGCATGC -3'
(R):5'- GGCTAACAAAATGACATGATATTTGC -3'
|
Posted On |
2016-08-04 |