Incidental Mutation 'R4789:Wdhd1'
ID |
367350 |
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 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4789 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
47478401-47514314 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 47506149 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 255
(V255A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107420
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111790]
[ENSMUST00000111791]
[ENSMUST00000111792]
[ENSMUST00000187531]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000111790
AA Change: V255A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000107420 Gene: ENSMUSG00000037572 AA Change: V255A
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 benign
Transcript: ENSMUST00000111791
AA Change: V255A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000107421 Gene: ENSMUSG00000037572 AA Change: V255A
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 benign
Transcript: ENSMUST00000111792
AA Change: V255A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000107422 Gene: ENSMUSG00000037572 AA Change: V255A
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 benign
Transcript: ENSMUST00000187531
AA Change: V255A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000141182 Gene: ENSMUSG00000037572 AA Change: V255A
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: 98.8%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.4%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110004F10Rik |
C |
A |
7: 115,692,757 (GRCm39) |
D20E |
probably benign |
Het |
Abcb9 |
T |
A |
5: 124,216,853 (GRCm39) |
M455L |
probably benign |
Het |
Add2 |
G |
A |
6: 86,095,752 (GRCm39) |
V475M |
probably benign |
Het |
Apoh |
T |
A |
11: 108,300,064 (GRCm39) |
Y238N |
probably damaging |
Het |
Arpp21 |
A |
G |
9: 111,896,360 (GRCm39) |
S681P |
probably benign |
Het |
Atp1a3 |
A |
C |
7: 24,698,389 (GRCm39) |
F149C |
probably damaging |
Het |
B9d1 |
A |
G |
11: 61,397,186 (GRCm39) |
D27G |
probably benign |
Het |
Bfar |
T |
A |
16: 13,503,001 (GRCm39) |
M1K |
probably null |
Het |
Bok |
T |
C |
1: 93,616,963 (GRCm39) |
V103A |
probably damaging |
Het |
Brca1 |
A |
C |
11: 101,414,758 (GRCm39) |
H1125Q |
probably benign |
Het |
Card9 |
T |
A |
2: 26,247,632 (GRCm39) |
M218L |
probably damaging |
Het |
Cers1 |
T |
C |
8: 70,776,018 (GRCm39) |
V303A |
probably damaging |
Het |
Col6a5 |
T |
C |
9: 105,814,534 (GRCm39) |
I493V |
unknown |
Het |
Coro7 |
T |
C |
16: 4,446,085 (GRCm39) |
Y880C |
probably damaging |
Het |
Cyp2b19 |
T |
C |
7: 26,463,801 (GRCm39) |
Y318H |
probably benign |
Het |
Dennd3 |
T |
A |
15: 73,394,131 (GRCm39) |
L52Q |
probably damaging |
Het |
Dlat |
A |
T |
9: 50,570,670 (GRCm39) |
C33S |
probably benign |
Het |
Dmxl2 |
T |
A |
9: 54,287,099 (GRCm39) |
Q2646L |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,610,295 (GRCm39) |
N1703D |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,518,998 (GRCm39) |
H1241L |
probably damaging |
Het |
Fbxl17 |
T |
G |
17: 63,794,910 (GRCm39) |
I391L |
probably benign |
Het |
Fdxacb1 |
A |
G |
9: 50,681,418 (GRCm39) |
D113G |
possibly damaging |
Het |
Flii |
A |
G |
11: 60,605,919 (GRCm39) |
S1185P |
probably benign |
Het |
Gm14496 |
A |
T |
2: 181,637,577 (GRCm39) |
Q217L |
possibly damaging |
Het |
Heatr9 |
A |
T |
11: 83,410,018 (GRCm39) |
D74E |
probably benign |
Het |
Heca |
C |
A |
10: 17,783,895 (GRCm39) |
E91* |
probably null |
Het |
Ikzf4 |
T |
G |
10: 128,468,575 (GRCm39) |
T635P |
probably benign |
Het |
Kif17 |
C |
T |
4: 138,008,688 (GRCm39) |
P382S |
probably damaging |
Het |
Kmt5b |
T |
C |
19: 3,865,330 (GRCm39) |
V775A |
probably benign |
Het |
Mapk8ip2 |
T |
A |
15: 89,343,241 (GRCm39) |
F661Y |
probably damaging |
Het |
Mapkap1 |
A |
G |
2: 34,423,859 (GRCm39) |
E111G |
possibly damaging |
Het |
Med9 |
T |
A |
11: 59,839,266 (GRCm39) |
N58K |
probably benign |
Het |
Mid2 |
T |
A |
X: 139,578,981 (GRCm39) |
Y61N |
probably damaging |
Het |
Mief1 |
T |
A |
15: 80,132,080 (GRCm39) |
Y50* |
probably null |
Het |
Mios |
T |
C |
6: 8,235,429 (GRCm39) |
M859T |
probably benign |
Het |
Muc5ac |
G |
T |
7: 141,352,619 (GRCm39) |
C702F |
possibly damaging |
Het |
Nkiras1 |
T |
C |
14: 18,276,935 (GRCm38) |
|
probably benign |
Het |
Or11i1 |
A |
C |
3: 106,729,608 (GRCm39) |
I89R |
possibly damaging |
Het |
Or11i1 |
T |
A |
3: 106,729,624 (GRCm39) |
M84L |
possibly damaging |
Het |
Or56a3b |
T |
G |
7: 104,771,520 (GRCm39) |
H285Q |
probably null |
Het |
Or5ae2 |
T |
A |
7: 84,506,509 (GRCm39) |
C311S |
probably benign |
Het |
Pcsk5 |
C |
T |
19: 17,410,963 (GRCm39) |
V1810M |
probably benign |
Het |
Pex1 |
T |
C |
5: 3,680,270 (GRCm39) |
V964A |
probably damaging |
Het |
Pgm2l1 |
A |
T |
7: 99,916,794 (GRCm39) |
M471L |
probably benign |
Het |
Pkd1l2 |
T |
C |
8: 117,738,314 (GRCm39) |
T2182A |
probably damaging |
Het |
Plscr1l1 |
G |
A |
9: 92,233,084 (GRCm39) |
C69Y |
probably damaging |
Het |
Polr1b |
T |
A |
2: 128,951,257 (GRCm39) |
I290K |
probably benign |
Het |
Prkg1 |
T |
A |
19: 31,563,045 (GRCm39) |
M119L |
probably damaging |
Het |
Rbl1 |
A |
G |
2: 157,019,275 (GRCm39) |
V490A |
probably benign |
Het |
Shtn1 |
G |
C |
19: 59,039,305 (GRCm39) |
R45G |
probably damaging |
Het |
Slc10a6 |
T |
A |
5: 103,776,848 (GRCm39) |
Y84F |
probably benign |
Het |
Slc25a23 |
T |
C |
17: 57,366,597 (GRCm39) |
D26G |
probably damaging |
Het |
Slc41a2 |
T |
C |
10: 83,152,320 (GRCm39) |
K52E |
probably damaging |
Het |
Slc4a5 |
T |
C |
6: 83,247,951 (GRCm39) |
F501L |
probably benign |
Het |
Slfn5 |
T |
A |
11: 82,847,226 (GRCm39) |
M37K |
probably benign |
Het |
Sptbn1 |
A |
C |
11: 30,067,759 (GRCm39) |
F1818L |
probably benign |
Het |
Taf3 |
T |
C |
2: 9,956,770 (GRCm39) |
T466A |
probably damaging |
Het |
Thbs2 |
C |
T |
17: 14,891,750 (GRCm39) |
G929D |
probably damaging |
Het |
Tmc3 |
A |
T |
7: 83,271,746 (GRCm39) |
D995V |
probably damaging |
Het |
Tmem262 |
T |
C |
19: 6,130,452 (GRCm39) |
F59L |
possibly damaging |
Het |
Triobp |
A |
G |
15: 78,875,228 (GRCm39) |
D137G |
probably damaging |
Het |
Tspear |
T |
C |
10: 77,702,199 (GRCm39) |
F211L |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,728,670 (GRCm39) |
|
probably benign |
Het |
Ugt2b5 |
T |
A |
5: 87,287,550 (GRCm39) |
M206L |
probably benign |
Het |
Ush1g |
A |
T |
11: 115,209,466 (GRCm39) |
S243T |
probably damaging |
Het |
Usp19 |
A |
T |
9: 108,370,433 (GRCm39) |
T86S |
possibly damaging |
Het |
Wdr11 |
G |
A |
7: 129,220,394 (GRCm39) |
W594* |
probably null |
Het |
Wnk3 |
T |
A |
X: 149,993,933 (GRCm39) |
Y331* |
probably null |
Het |
Zfp429 |
A |
T |
13: 67,538,523 (GRCm39) |
I307K |
probably benign |
Het |
Zkscan14 |
T |
A |
5: 145,132,444 (GRCm39) |
K362N |
probably 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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CATGTATTCAATCCTTAGCACCAC -3'
(R):5'- GCAGGTATTAATTTTCTCCTGGC -3'
Sequencing Primer
(F):5'- CTACAGAACATTATGGCGTGCATGC -3'
(R):5'- TCTCCTGGCTAACAAAATGACATG -3'
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Posted On |
2015-12-29 |