Incidental Mutation 'R0603:Wdhd1'
ID |
55563 |
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 |
038792-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0603 (G1)
|
Quality Score |
213 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
47478401-47514314 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 47501043 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 453
(D453G)
|
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 damaging
Transcript: ENSMUST00000111790
AA Change: D453G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107420 Gene: ENSMUSG00000037572 AA Change: D453G
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 damaging
Transcript: ENSMUST00000111791
AA Change: D453G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000107421 Gene: ENSMUSG00000037572 AA Change: D453G
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 |
possibly damaging
Transcript: ENSMUST00000111792
AA Change: D416G
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000107422 Gene: ENSMUSG00000037572 AA Change: D416G
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 damaging
Transcript: ENSMUST00000187531
AA Change: D453G
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000141182 Gene: ENSMUSG00000037572 AA Change: D453G
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 |
noncoding transcript
Transcript: ENSMUST00000228742
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.3%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anapc7 |
A |
G |
5: 122,578,233 (GRCm39) |
N406S |
probably benign |
Het |
Arhgap4 |
C |
T |
X: 72,950,389 (GRCm39) |
R54Q |
probably damaging |
Het |
Asb15 |
T |
A |
6: 24,556,556 (GRCm39) |
I17N |
probably damaging |
Het |
Atp8a1 |
T |
C |
5: 67,914,039 (GRCm39) |
|
probably null |
Het |
Caprin1 |
A |
G |
2: 103,627,146 (GRCm39) |
V47A |
probably benign |
Het |
Col4a2 |
T |
C |
8: 11,464,779 (GRCm39) |
V348A |
probably benign |
Het |
Disp2 |
A |
G |
2: 118,622,487 (GRCm39) |
K1073R |
probably damaging |
Het |
Dmxl2 |
G |
A |
9: 54,313,190 (GRCm39) |
H1686Y |
possibly damaging |
Het |
Dzank1 |
C |
T |
2: 144,353,432 (GRCm39) |
V152I |
probably benign |
Het |
Elp1 |
A |
T |
4: 56,792,105 (GRCm39) |
I221N |
possibly damaging |
Het |
Evl |
T |
A |
12: 108,614,681 (GRCm39) |
I25N |
probably damaging |
Het |
Fam117a |
A |
G |
11: 95,271,699 (GRCm39) |
K424E |
probably damaging |
Het |
Gm17732 |
C |
T |
18: 62,795,823 (GRCm39) |
|
probably benign |
Het |
Gpr158 |
T |
C |
2: 21,820,480 (GRCm39) |
I659T |
possibly damaging |
Het |
Hectd4 |
T |
A |
5: 121,442,400 (GRCm39) |
V1280E |
possibly damaging |
Het |
Irs4 |
T |
C |
X: 140,508,071 (GRCm39) |
T42A |
probably damaging |
Het |
Kdm4a |
C |
T |
4: 117,999,708 (GRCm39) |
V905I |
probably damaging |
Het |
Lmtk3 |
T |
A |
7: 45,444,980 (GRCm39) |
|
probably benign |
Het |
Lsp1 |
G |
A |
7: 142,043,115 (GRCm39) |
R221H |
probably damaging |
Het |
Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
Mmut |
A |
T |
17: 41,258,057 (GRCm39) |
I408F |
probably damaging |
Het |
Nckap1 |
A |
T |
2: 80,343,073 (GRCm39) |
V942E |
probably benign |
Het |
Neto1 |
T |
A |
18: 86,491,785 (GRCm39) |
C229S |
possibly damaging |
Het |
Nipal2 |
A |
G |
15: 34,650,544 (GRCm39) |
I63T |
probably damaging |
Het |
Or11g2 |
T |
C |
14: 50,855,967 (GRCm39) |
I96T |
probably damaging |
Het |
Or1af1 |
G |
A |
2: 37,110,118 (GRCm39) |
V206I |
probably damaging |
Het |
Or4k49 |
A |
T |
2: 111,495,225 (GRCm39) |
Y218F |
probably damaging |
Het |
Or7e165 |
A |
T |
9: 19,695,235 (GRCm39) |
R269W |
probably damaging |
Het |
Or8g36 |
C |
A |
9: 39,422,810 (GRCm39) |
V69F |
possibly damaging |
Het |
Pgpep1 |
T |
C |
8: 71,103,283 (GRCm39) |
E120G |
probably benign |
Het |
Pkhd1 |
A |
T |
1: 20,187,397 (GRCm39) |
M3637K |
probably benign |
Het |
Pkm |
T |
C |
9: 59,573,164 (GRCm39) |
V58A |
probably damaging |
Het |
Ppp2r1b |
C |
A |
9: 50,772,985 (GRCm39) |
T154K |
probably damaging |
Het |
Rgs18 |
T |
A |
1: 144,631,818 (GRCm39) |
D98V |
possibly damaging |
Het |
Rsph6a |
G |
T |
7: 18,799,886 (GRCm39) |
A506S |
possibly damaging |
Het |
Selenop |
T |
A |
15: 3,305,183 (GRCm39) |
V113E |
probably damaging |
Het |
Slc6a11 |
G |
A |
6: 114,221,851 (GRCm39) |
V514M |
probably benign |
Het |
Srsf9 |
C |
T |
5: 115,470,696 (GRCm39) |
S132L |
probably damaging |
Het |
Tchh |
G |
A |
3: 93,351,088 (GRCm39) |
R176H |
possibly damaging |
Het |
Tcp11 |
T |
C |
17: 28,286,784 (GRCm39) |
N405S |
probably damaging |
Het |
Tle1 |
A |
C |
4: 72,036,584 (GRCm39) |
D760E |
probably damaging |
Het |
Tmem178 |
A |
G |
17: 81,252,488 (GRCm39) |
D124G |
possibly damaging |
Het |
Trabd |
G |
A |
15: 88,966,929 (GRCm39) |
E118K |
probably damaging |
Het |
Ttc39a |
A |
G |
4: 109,283,499 (GRCm39) |
D115G |
probably damaging |
Het |
Uaca |
T |
A |
9: 60,778,379 (GRCm39) |
M920K |
possibly damaging |
Het |
Uba2 |
A |
T |
7: 33,861,038 (GRCm39) |
M5K |
probably damaging |
Het |
Unc5c |
C |
T |
3: 141,476,863 (GRCm39) |
P343L |
probably damaging |
Het |
Wfdc8 |
A |
G |
2: 164,445,145 (GRCm39) |
Y157H |
probably damaging |
Het |
Zbbx |
T |
G |
3: 74,985,757 (GRCm39) |
K432Q |
probably benign |
Het |
Zeb2 |
G |
A |
2: 44,907,438 (GRCm39) |
T169M |
probably benign |
Het |
Zfp956 |
A |
G |
6: 47,932,962 (GRCm39) |
E79G |
probably damaging |
Het |
Zzef1 |
G |
A |
11: 72,708,895 (GRCm39) |
V165I |
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 |
|
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 |
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'- TTTCATACGCAGAAGATGCAATGAGGA -3'
(R):5'- CCACAGCTTTCTGAAGCTATGCTGA -3'
Sequencing Primer
(F):5'- GCTCTAATAGTTCAACAATGCCAG -3'
(R):5'- GCTTTCTGAAGCTATGCTGAATTAG -3'
|
Posted On |
2013-07-11 |