Incidental Mutation 'R1952:Wdhd1'
| ID |
217412 |
| 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 |
039966-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1952 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
47478401-47514314 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47507647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 213
(Y213C)
|
| 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 damaging
Transcript: ENSMUST00000111790
AA Change: Y213C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107420
Gene: ENSMUSG00000037572
AA Change: Y213C
| 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: Y213C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107421
Gene: ENSMUSG00000037572
AA Change: Y213C
| 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 damaging
Transcript: ENSMUST00000111792
AA Change: Y213C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107422
Gene: ENSMUSG00000037572
AA Change: Y213C
| 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 damaging
Transcript: ENSMUST00000187531
AA Change: Y213C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141182
Gene: ENSMUSG00000037572
AA Change: Y213C
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024G13Rik |
A |
G |
14: 32,110,293 (GRCm39) |
V6A |
possibly damaging |
Het |
| Accsl |
G |
T |
2: 93,689,778 (GRCm39) |
H376Q |
probably damaging |
Het |
| Adgrg1 |
T |
C |
8: 95,735,119 (GRCm39) |
|
probably null |
Het |
| Alyref |
C |
G |
11: 120,486,758 (GRCm39) |
V168L |
probably damaging |
Het |
| Ankrd12 |
T |
C |
17: 66,338,566 (GRCm39) |
D128G |
probably damaging |
Het |
| Bcl2l14 |
A |
G |
6: 134,409,329 (GRCm39) |
Y301C |
probably damaging |
Het |
| Camsap3 |
A |
G |
8: 3,654,789 (GRCm39) |
T804A |
probably damaging |
Het |
| Capn11 |
A |
T |
17: 45,953,885 (GRCm39) |
W154R |
probably damaging |
Het |
| Cd44 |
T |
A |
2: 102,683,432 (GRCm39) |
T201S |
probably damaging |
Het |
| Cers4 |
G |
A |
8: 4,573,461 (GRCm39) |
W319* |
probably null |
Het |
| Col27a1 |
T |
A |
4: 63,202,130 (GRCm39) |
|
probably null |
Het |
| Crnkl1 |
G |
A |
2: 145,770,120 (GRCm39) |
A241V |
probably damaging |
Het |
| Cyp2c68 |
T |
C |
19: 39,700,972 (GRCm39) |
Y282C |
probably benign |
Het |
| Dmd |
T |
A |
X: 82,874,123 (GRCm39) |
I1342N |
probably damaging |
Het |
| Dusp7 |
T |
A |
9: 106,248,028 (GRCm39) |
C219S |
probably benign |
Het |
| Epha7 |
A |
G |
4: 28,950,474 (GRCm39) |
N759S |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,486,963 (GRCm39) |
V3413A |
probably benign |
Het |
| Gls2 |
A |
G |
10: 128,045,231 (GRCm39) |
H576R |
probably benign |
Het |
| Gm4884 |
G |
A |
7: 40,693,671 (GRCm39) |
V547M |
probably benign |
Het |
| Hap1 |
A |
G |
11: 100,243,105 (GRCm39) |
V174A |
probably damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,269,300 (GRCm39) |
S838P |
probably damaging |
Het |
| Ints8 |
T |
C |
4: 11,221,150 (GRCm39) |
I742V |
probably benign |
Het |
| Katnal2 |
G |
T |
18: 77,067,707 (GRCm39) |
S411R |
probably benign |
Het |
| Lrp1 |
A |
C |
10: 127,403,300 (GRCm39) |
V2091G |
probably damaging |
Het |
| Mettl21c |
A |
T |
1: 44,056,368 (GRCm39) |
D20E |
probably damaging |
Het |
| Mib1 |
A |
T |
18: 10,812,077 (GRCm39) |
E991D |
possibly damaging |
Het |
| Mip |
T |
C |
10: 128,061,772 (GRCm39) |
S8P |
possibly damaging |
Het |
| Mllt6 |
T |
C |
11: 97,568,048 (GRCm39) |
S826P |
probably damaging |
Het |
| Mlst8 |
AT |
ATT |
17: 24,696,987 (GRCm39) |
|
probably null |
Het |
| Myrfl |
C |
T |
10: 116,658,716 (GRCm39) |
V414I |
probably benign |
Het |
| Nbeal1 |
T |
C |
1: 60,273,999 (GRCm39) |
V409A |
probably damaging |
Het |
| Nin |
T |
A |
12: 70,077,700 (GRCm39) |
Q1035L |
probably damaging |
Het |
| Nlgn1 |
T |
A |
3: 25,490,464 (GRCm39) |
D421V |
probably damaging |
Het |
| Nlrp10 |
A |
G |
7: 108,523,770 (GRCm39) |
V570A |
probably benign |
Het |
| Olfm3 |
A |
T |
3: 114,895,589 (GRCm39) |
E157V |
probably null |
Het |
| Or8g24 |
T |
A |
9: 38,989,580 (GRCm39) |
I154F |
probably benign |
Het |
| Or8g37 |
T |
C |
9: 39,731,363 (GRCm39) |
S143P |
probably benign |
Het |
| Otud7a |
A |
G |
7: 63,300,624 (GRCm39) |
D21G |
probably damaging |
Het |
| Pax2 |
A |
G |
19: 44,777,271 (GRCm39) |
T155A |
probably benign |
Het |
| Pcf11 |
A |
T |
7: 92,310,546 (GRCm39) |
S481T |
probably damaging |
Het |
| Prkab2 |
T |
C |
3: 97,573,943 (GRCm39) |
V194A |
probably benign |
Het |
| Prl3a1 |
G |
A |
13: 27,454,136 (GRCm39) |
G38E |
possibly damaging |
Het |
| Psmb8 |
T |
C |
17: 34,419,884 (GRCm39) |
V246A |
probably damaging |
Het |
| Ptpn12 |
A |
T |
5: 21,203,308 (GRCm39) |
V490E |
probably benign |
Het |
| Ptprm |
A |
T |
17: 67,247,575 (GRCm39) |
S587T |
probably benign |
Het |
| Qars1 |
G |
A |
9: 108,390,380 (GRCm39) |
R427H |
probably benign |
Het |
| R3hdml |
T |
C |
2: 163,340,216 (GRCm39) |
F128L |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 72,038,471 (GRCm39) |
M541V |
probably benign |
Het |
| Rhbdf1 |
G |
A |
11: 32,164,277 (GRCm39) |
R234* |
probably null |
Het |
| Rufy1 |
A |
T |
11: 50,297,233 (GRCm39) |
D406E |
probably benign |
Het |
| Satb1 |
A |
T |
17: 52,047,173 (GRCm39) |
L683Q |
probably damaging |
Het |
| Satb2 |
T |
C |
1: 56,938,229 (GRCm39) |
T132A |
probably damaging |
Het |
| Sbspon |
A |
G |
1: 15,930,519 (GRCm39) |
S156P |
probably damaging |
Het |
| Shb |
A |
T |
4: 45,458,347 (GRCm39) |
|
probably null |
Het |
| She |
A |
G |
3: 89,756,792 (GRCm39) |
K282R |
possibly damaging |
Het |
| Slc25a13 |
A |
G |
6: 6,152,482 (GRCm39) |
L85P |
probably damaging |
Het |
| Slc7a13 |
A |
T |
4: 19,841,578 (GRCm39) |
H475L |
probably benign |
Het |
| Sorl1 |
C |
T |
9: 41,957,920 (GRCm39) |
V575I |
probably benign |
Het |
| Spag9 |
T |
A |
11: 93,988,184 (GRCm39) |
C833S |
possibly damaging |
Het |
| Speer2 |
A |
C |
16: 69,654,052 (GRCm39) |
N232K |
probably damaging |
Het |
| Syncrip |
A |
T |
9: 88,358,927 (GRCm39) |
M194K |
probably damaging |
Het |
| Sytl3 |
A |
C |
17: 6,995,732 (GRCm39) |
T171P |
probably damaging |
Het |
| Taar7f |
T |
A |
10: 23,925,747 (GRCm39) |
Y114N |
probably damaging |
Het |
| Tamalin |
T |
C |
15: 101,122,381 (GRCm39) |
Y67H |
probably benign |
Het |
| Tap1 |
C |
G |
17: 34,412,481 (GRCm39) |
P506R |
probably damaging |
Het |
| Tle6 |
T |
C |
10: 81,431,319 (GRCm39) |
D212G |
possibly damaging |
Het |
| Trim80 |
G |
T |
11: 115,332,155 (GRCm39) |
E116* |
probably null |
Het |
| Ttll4 |
A |
G |
1: 74,726,718 (GRCm39) |
R745G |
probably damaging |
Het |
| Vdac2 |
A |
T |
14: 21,887,947 (GRCm39) |
I85F |
possibly damaging |
Het |
| Vmn1r188 |
A |
G |
13: 22,272,309 (GRCm39) |
R88G |
probably damaging |
Het |
| Washc2 |
T |
C |
6: 116,232,052 (GRCm39) |
S821P |
possibly damaging |
Het |
| Wdr55 |
C |
A |
18: 36,893,437 (GRCm39) |
P33Q |
probably damaging |
Het |
| Yrdc |
C |
T |
4: 124,745,739 (GRCm39) |
A32V |
probably benign |
Het |
| Zfp608 |
T |
A |
18: 55,030,851 (GRCm39) |
K1030* |
probably null |
Het |
| Zfp618 |
T |
A |
4: 63,050,555 (GRCm39) |
|
probably null |
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 |
|
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'- TCACTCTAATATCAAGCTAAGGGTAA -3'
(R):5'- CTCCTTTGCTTTTCATTGAAAGTAAT -3'
Sequencing Primer
(F):5'- CAGATCCTATGAACCTGGGGTTAC -3'
(R):5'- GTGCTCTTATATCTTGTAATTTAGC -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation