Incidental Mutation 'R0165:Wdhd1'
ID |
24125 |
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 |
038441-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0165 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
14 |
Chromosomal Location |
47478401-47514314 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 47504525 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 350
(S350P)
|
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 benign
Transcript: ENSMUST00000111790
AA Change: S350P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000107420 Gene: ENSMUSG00000037572 AA Change: S350P
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: S350P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000107421 Gene: ENSMUSG00000037572 AA Change: S350P
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
|
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 |
probably benign
Transcript: ENSMUST00000187531
AA Change: S350P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000141182 Gene: ENSMUSG00000037572 AA Change: S350P
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
|
Meta Mutation Damage Score |
0.0670 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.5%
- 10x: 96.2%
- 20x: 91.4%
|
Validation Efficiency |
96% (81/84) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
C |
12: 71,213,924 (GRCm39) |
I717T |
possibly damaging |
Het |
6430571L13Rik |
A |
G |
9: 107,223,383 (GRCm39) |
|
probably benign |
Het |
Abca15 |
T |
A |
7: 119,950,126 (GRCm39) |
|
probably benign |
Het |
Abca6 |
A |
G |
11: 110,110,430 (GRCm39) |
V573A |
possibly damaging |
Het |
Adgrl2 |
A |
G |
3: 148,558,499 (GRCm39) |
|
probably benign |
Het |
Agap3 |
A |
G |
5: 24,684,743 (GRCm39) |
T544A |
probably damaging |
Het |
Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
Akr1c20 |
T |
C |
13: 4,573,295 (GRCm39) |
T7A |
probably benign |
Het |
Ankrd26 |
A |
G |
6: 118,517,445 (GRCm39) |
S459P |
probably benign |
Het |
Armh4 |
A |
G |
14: 50,011,243 (GRCm39) |
S155P |
probably benign |
Het |
Ascc3 |
T |
A |
10: 50,718,223 (GRCm39) |
|
probably null |
Het |
Brd1 |
T |
C |
15: 88,613,980 (GRCm39) |
N305S |
probably damaging |
Het |
Catip |
T |
A |
1: 74,407,628 (GRCm39) |
L320Q |
possibly damaging |
Het |
Cplane1 |
G |
A |
15: 8,245,866 (GRCm39) |
V1413M |
probably damaging |
Het |
Cttnbp2 |
G |
A |
6: 18,435,409 (GRCm39) |
Q150* |
probably null |
Het |
Cyp2d22 |
T |
G |
15: 82,257,481 (GRCm39) |
N228T |
probably benign |
Het |
Dapk1 |
T |
C |
13: 60,909,407 (GRCm39) |
V1340A |
probably benign |
Het |
Dcaf4 |
G |
A |
12: 83,582,762 (GRCm39) |
|
probably benign |
Het |
Ddhd1 |
G |
A |
14: 45,833,049 (GRCm39) |
T849M |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 72,998,306 (GRCm39) |
S3987P |
probably benign |
Het |
Dst |
C |
A |
1: 34,193,727 (GRCm39) |
|
probably benign |
Het |
Epha2 |
T |
C |
4: 141,049,203 (GRCm39) |
|
probably null |
Het |
Ern2 |
T |
C |
7: 121,779,002 (GRCm39) |
T281A |
probably benign |
Het |
Extl1 |
A |
G |
4: 134,085,014 (GRCm39) |
F652S |
probably damaging |
Het |
Gckr |
A |
G |
5: 31,484,292 (GRCm39) |
S541G |
possibly damaging |
Het |
Gdap1l1 |
A |
G |
2: 163,293,419 (GRCm39) |
|
probably null |
Het |
Gm7535 |
T |
C |
17: 18,131,437 (GRCm39) |
|
probably benign |
Het |
Gmps |
T |
A |
3: 63,901,375 (GRCm39) |
I398N |
probably damaging |
Het |
Igf2r |
A |
G |
17: 12,917,414 (GRCm39) |
V1556A |
probably benign |
Het |
Il3ra |
T |
A |
14: 14,350,967 (GRCm38) |
N283K |
probably benign |
Het |
Ist1 |
A |
G |
8: 110,401,998 (GRCm39) |
|
probably benign |
Het |
Lama3 |
A |
T |
18: 12,657,867 (GRCm39) |
I1934F |
probably damaging |
Het |
Lars1 |
A |
T |
18: 42,335,762 (GRCm39) |
M1118K |
possibly damaging |
Het |
Lpin2 |
C |
T |
17: 71,553,514 (GRCm39) |
S846L |
probably damaging |
Het |
Lrrc4b |
C |
A |
7: 44,111,739 (GRCm39) |
T537K |
probably damaging |
Het |
Ltn1 |
G |
A |
16: 87,202,407 (GRCm39) |
|
probably benign |
Het |
Meiob |
A |
G |
17: 25,054,135 (GRCm39) |
T401A |
probably benign |
Het |
Mettl21e |
G |
A |
1: 44,250,283 (GRCm39) |
T41M |
probably damaging |
Het |
Miga1 |
C |
T |
3: 151,996,480 (GRCm39) |
E323K |
probably damaging |
Het |
Ndufs1 |
A |
T |
1: 63,198,907 (GRCm39) |
|
probably null |
Het |
Or5p62 |
T |
C |
7: 107,771,882 (GRCm39) |
D23G |
probably benign |
Het |
Otog |
G |
A |
7: 45,953,655 (GRCm39) |
V2638M |
probably damaging |
Het |
Parp6 |
T |
C |
9: 59,540,208 (GRCm39) |
Y274H |
probably damaging |
Het |
Prom2 |
A |
T |
2: 127,381,434 (GRCm39) |
|
probably benign |
Het |
Prune2 |
T |
A |
19: 17,099,974 (GRCm39) |
M1826K |
probably benign |
Het |
Qki |
T |
A |
17: 10,457,892 (GRCm39) |
D159V |
probably damaging |
Het |
Rab12 |
A |
T |
17: 66,807,312 (GRCm39) |
I139N |
probably damaging |
Het |
Rab25 |
T |
A |
3: 88,455,362 (GRCm39) |
E7D |
probably benign |
Het |
Rala |
A |
T |
13: 18,063,174 (GRCm39) |
V139E |
probably benign |
Het |
Ralgapa2 |
A |
G |
2: 146,230,407 (GRCm39) |
|
probably benign |
Het |
Rbl2 |
T |
A |
8: 91,800,804 (GRCm39) |
Y89N |
probably damaging |
Het |
Rho |
A |
T |
6: 115,909,188 (GRCm39) |
I75F |
probably damaging |
Het |
Slc38a4 |
C |
A |
15: 96,906,830 (GRCm39) |
A303S |
probably benign |
Het |
Slc6a15 |
A |
G |
10: 103,245,670 (GRCm39) |
D551G |
probably null |
Het |
Smyd3 |
T |
C |
1: 178,871,437 (GRCm39) |
N314S |
probably benign |
Het |
Speer4f1 |
T |
A |
5: 17,684,512 (GRCm39) |
L180* |
probably null |
Het |
Stat6 |
T |
C |
10: 127,493,096 (GRCm39) |
V576A |
probably damaging |
Het |
Strn |
T |
C |
17: 78,984,803 (GRCm39) |
D127G |
possibly damaging |
Het |
Syne1 |
T |
C |
10: 4,983,096 (GRCm39) |
R8610G |
probably benign |
Het |
Tbc1d7 |
A |
C |
13: 43,306,678 (GRCm39) |
|
probably null |
Het |
Tcf3 |
C |
T |
10: 80,248,831 (GRCm39) |
R548Q |
probably damaging |
Het |
Tlr9 |
C |
A |
9: 106,103,286 (GRCm39) |
A859D |
probably benign |
Het |
Tmem106c |
T |
A |
15: 97,866,020 (GRCm39) |
|
probably benign |
Het |
Tmprss11c |
A |
T |
5: 86,379,786 (GRCm39) |
|
probably benign |
Het |
Tnfsf18 |
A |
G |
1: 161,322,300 (GRCm39) |
R7G |
probably benign |
Het |
Tnrc6b |
T |
A |
15: 80,742,871 (GRCm39) |
|
probably null |
Het |
Trpm7 |
A |
T |
2: 126,639,433 (GRCm39) |
F1684I |
probably damaging |
Het |
Ttbk1 |
C |
A |
17: 46,789,864 (GRCm39) |
R133L |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,551,686 (GRCm39) |
S22962P |
probably damaging |
Het |
Ube2q1 |
T |
A |
3: 89,683,460 (GRCm39) |
L135Q |
probably damaging |
Het |
Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
Vwce |
T |
C |
19: 10,637,337 (GRCm39) |
|
probably benign |
Het |
Zbtb21 |
A |
G |
16: 97,752,604 (GRCm39) |
S560P |
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 |
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 |
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'- gccctctcTCTAACTTTTCCATTTCCGA -3'
(R):5'- CCTGACCAGAGCACAAAGCATTTAACAT -3'
Sequencing Primer
(F):5'- TGTACCTCTAGACGCTAATTAAGCC -3'
(R):5'- tggtgggtaggcagaagg -3'
|
Posted On |
2013-04-16 |