Incidental Mutation 'R6046:Wdhd1'
| ID |
483318 |
| 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 |
044214-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6046 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
47478401-47514314 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 47510667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 119
(K119*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141182
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065562]
[ENSMUST00000111790]
[ENSMUST00000111791]
[ENSMUST00000111792]
[ENSMUST00000187531]
[ENSMUST00000227413]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065562
|
| SMART Domains |
Protein: ENSMUSP00000066031
Gene: ENSMUSG00000048379
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
47 |
N/A |
INTRINSIC |
|
Pfam:SOCS
|
55 |
108 |
6.8e-23 |
PFAM |
|
low complexity region
|
219 |
232 |
N/A |
INTRINSIC |
|
SH2
|
281 |
367 |
1.11e-16 |
SMART |
|
SOCS
|
377 |
420 |
1.69e-16 |
SMART |
|
SOCS_box
|
383 |
419 |
1.13e-9 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111790
AA Change: K119*
|
| SMART Domains |
Protein: ENSMUSP00000107420
Gene: ENSMUSG00000037572
AA Change: K119*
| 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: K119*
|
| SMART Domains |
Protein: ENSMUSP00000107421
Gene: ENSMUSG00000037572
AA Change: K119*
| 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: K119*
|
| SMART Domains |
Protein: ENSMUSP00000107422
Gene: ENSMUSG00000037572
AA Change: K119*
| 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: K119*
|
| SMART Domains |
Protein: ENSMUSP00000141182
Gene: ENSMUSG00000037572
AA Change: K119*
| 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 |
probably benign
Transcript: ENSMUST00000227413
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228623
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
100% (78/78) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
T |
C |
10: 85,223,947 (GRCm39) |
V252A |
unknown |
Het |
| Actn4 |
T |
C |
7: 28,604,044 (GRCm39) |
I406V |
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Ank1 |
T |
A |
8: 23,606,114 (GRCm39) |
F1124I |
probably damaging |
Het |
| Arhgap44 |
CTGCT |
CTGCTTGCT |
11: 64,922,910 (GRCm39) |
|
probably null |
Het |
| Atp9a |
C |
A |
2: 168,476,790 (GRCm39) |
V1000L |
probably benign |
Het |
| Bnip3 |
A |
G |
7: 138,511,033 (GRCm39) |
|
probably benign |
Het |
| Btnl6 |
T |
A |
17: 34,727,371 (GRCm39) |
R386S |
probably damaging |
Het |
| Calcrl |
A |
G |
2: 84,205,658 (GRCm39) |
V11A |
probably benign |
Het |
| Cc2d1a |
G |
T |
8: 84,863,571 (GRCm39) |
A597D |
possibly damaging |
Het |
| Celsr3 |
A |
G |
9: 108,714,350 (GRCm39) |
T1960A |
probably benign |
Het |
| Cfb |
T |
A |
17: 35,081,078 (GRCm39) |
|
probably null |
Het |
| Chd8 |
A |
G |
14: 52,458,528 (GRCm39) |
I860T |
possibly damaging |
Het |
| Col28a1 |
A |
G |
6: 8,168,102 (GRCm39) |
|
probably null |
Het |
| Crhr2 |
T |
A |
6: 55,068,277 (GRCm39) |
T428S |
probably damaging |
Het |
| Crybg2 |
A |
T |
4: 133,819,388 (GRCm39) |
I1753F |
probably damaging |
Het |
| Ctsq |
A |
T |
13: 61,186,955 (GRCm39) |
V46E |
probably benign |
Het |
| Cxcr1 |
T |
C |
1: 74,231,440 (GRCm39) |
E194G |
probably damaging |
Het |
| Dop1a |
A |
T |
9: 86,397,396 (GRCm39) |
H900L |
probably damaging |
Het |
| Dpyd |
T |
A |
3: 119,225,224 (GRCm39) |
M999K |
probably benign |
Het |
| Gbp3 |
A |
C |
3: 142,273,560 (GRCm39) |
D369A |
possibly damaging |
Het |
| Glmp |
A |
G |
3: 88,232,495 (GRCm39) |
E36G |
probably damaging |
Het |
| Gm10113 |
T |
C |
13: 46,330,919 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6486 |
T |
A |
5: 3,120,846 (GRCm39) |
|
noncoding transcript |
Het |
| Gm973 |
T |
G |
1: 59,671,509 (GRCm39) |
L891R |
unknown |
Het |
| Heatr3 |
C |
T |
8: 88,866,582 (GRCm39) |
T8M |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,352,831 (GRCm39) |
M2106V |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,046,509 (GRCm39) |
|
probably null |
Het |
| Hspa14 |
A |
G |
2: 3,490,801 (GRCm39) |
V462A |
possibly damaging |
Het |
| Hspa5 |
C |
A |
2: 34,665,761 (GRCm39) |
T535K |
possibly damaging |
Het |
| Ift140 |
A |
G |
17: 25,274,563 (GRCm39) |
D745G |
probably benign |
Het |
| Ift27 |
A |
T |
15: 78,057,981 (GRCm39) |
C8S |
possibly damaging |
Het |
| Irak1bp1 |
G |
A |
9: 82,728,616 (GRCm39) |
W182* |
probably null |
Het |
| Itga3 |
A |
G |
11: 94,953,541 (GRCm39) |
I236T |
probably benign |
Het |
| Kctd15 |
T |
A |
7: 34,349,547 (GRCm39) |
N26Y |
possibly damaging |
Het |
| Kdm1b |
T |
C |
13: 47,232,729 (GRCm39) |
V733A |
possibly damaging |
Het |
| Lhx8 |
A |
T |
3: 154,027,340 (GRCm39) |
L234H |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,337,098 (GRCm39) |
T1225S |
probably damaging |
Het |
| Lrrn1 |
G |
A |
6: 107,545,488 (GRCm39) |
D429N |
probably benign |
Het |
| Mettl3 |
A |
T |
14: 52,536,243 (GRCm39) |
N200K |
possibly damaging |
Het |
| Mixl1 |
G |
T |
1: 180,524,336 (GRCm39) |
A81D |
possibly damaging |
Het |
| Mroh2b |
T |
C |
15: 4,980,763 (GRCm39) |
I1444T |
probably benign |
Het |
| Muc15 |
T |
A |
2: 110,561,786 (GRCm39) |
L74* |
probably null |
Het |
| Olfm2 |
T |
A |
9: 20,579,824 (GRCm39) |
Y317F |
probably damaging |
Het |
| Or52a33 |
C |
T |
7: 103,288,886 (GRCm39) |
V154M |
probably benign |
Het |
| Or5b114-ps1 |
G |
A |
19: 13,352,698 (GRCm39) |
S124N |
probably benign |
Het |
| Or5p54 |
T |
A |
7: 107,554,001 (GRCm39) |
I51N |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,763,302 (GRCm39) |
Y3925F |
unknown |
Het |
| Pik3c2g |
A |
T |
6: 139,599,137 (GRCm39) |
R84S |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,842,518 (GRCm39) |
Q449R |
probably damaging |
Het |
| Psg28 |
T |
C |
7: 18,160,305 (GRCm39) |
E297G |
probably damaging |
Het |
| Qrich2 |
A |
T |
11: 116,337,832 (GRCm39) |
|
probably benign |
Het |
| Rgs9 |
A |
G |
11: 109,130,386 (GRCm39) |
I363T |
probably damaging |
Het |
| Rnpepl1 |
A |
G |
1: 92,844,543 (GRCm39) |
D345G |
probably damaging |
Het |
| Rtn4 |
T |
A |
11: 29,658,023 (GRCm39) |
F726I |
probably damaging |
Het |
| Sart3 |
A |
T |
5: 113,893,507 (GRCm39) |
I330N |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,391,440 (GRCm39) |
D84G |
probably damaging |
Het |
| Sema4a |
T |
C |
3: 88,348,008 (GRCm39) |
T438A |
probably damaging |
Het |
| Sfxn1 |
A |
C |
13: 54,242,961 (GRCm39) |
Y73S |
probably benign |
Het |
| Slc24a2 |
A |
G |
4: 86,914,882 (GRCm39) |
M585T |
probably damaging |
Het |
| Slc26a7 |
A |
G |
4: 14,505,471 (GRCm39) |
V656A |
probably benign |
Het |
| Smok2a |
T |
G |
17: 13,445,021 (GRCm39) |
D199E |
probably benign |
Het |
| Tbc1d10c |
T |
C |
19: 4,235,030 (GRCm39) |
I344V |
probably benign |
Het |
| Tll1 |
A |
T |
8: 64,506,925 (GRCm39) |
Y605* |
probably null |
Het |
| Trim75 |
G |
A |
8: 65,435,535 (GRCm39) |
P305L |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,838,166 (GRCm39) |
N895S |
probably benign |
Het |
| Vmn2r25 |
A |
T |
6: 123,799,876 (GRCm39) |
I822N |
probably damaging |
Het |
| Wasf3 |
T |
G |
5: 146,407,166 (GRCm39) |
D495E |
unknown |
Het |
| Wnt2b |
T |
A |
3: 104,858,339 (GRCm39) |
D310V |
probably damaging |
Het |
| Zfat |
G |
T |
15: 68,052,626 (GRCm39) |
D389E |
probably damaging |
Het |
| Zfp282 |
G |
A |
6: 47,857,102 (GRCm39) |
V112M |
probably damaging |
Het |
| Zfp617 |
A |
T |
8: 72,687,257 (GRCm39) |
K529I |
probably damaging |
Het |
| Zfp866 |
A |
T |
8: 70,218,373 (GRCm39) |
C416S |
probably damaging |
Het |
| Zfp991 |
G |
A |
4: 147,264,222 (GRCm39) |
G533D |
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 |
|
|
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 |
|
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'- CGCATAGAAATTGGTTCAACTGG -3'
(R):5'- GTCCAGAGAAGCCATGTAGG -3'
Sequencing Primer
(F):5'- AATTGGTTCAACTGGTTTAAAAAGG -3'
(R):5'- GGGTGACAGTTTGCAAGT -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation