Incidental Mutation 'R8997:Wdsub1'
ID |
684753 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdsub1
|
Ensembl Gene |
ENSMUSG00000026988 |
Gene Name |
WD repeat, SAM and U-box domain containing 1 |
Synonyms |
2610014F08Rik, 1700048E19Rik |
MMRRC Submission |
068828-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R8997 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
59682708-59712935 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 59688977 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Arginine
at position 415
(M415R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028368
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028368]
[ENSMUST00000102751]
|
AlphaFold |
Q9D0I6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028368
AA Change: M415R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000028368 Gene: ENSMUSG00000026988 AA Change: M415R
Domain | Start | End | E-Value | Type |
WD40
|
1 |
38 |
7.85e-7 |
SMART |
WD40
|
43 |
82 |
1.96e-7 |
SMART |
WD40
|
85 |
125 |
5.47e-6 |
SMART |
WD40
|
128 |
167 |
1.5e-3 |
SMART |
WD40
|
169 |
217 |
2.48e-4 |
SMART |
WD40
|
227 |
266 |
4.91e-8 |
SMART |
WD40
|
269 |
308 |
7.05e-9 |
SMART |
SAM
|
327 |
394 |
1.12e-15 |
SMART |
Ubox
|
405 |
468 |
1.69e-24 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102751
AA Change: M415R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099812 Gene: ENSMUSG00000026988 AA Change: M415R
Domain | Start | End | E-Value | Type |
WD40
|
1 |
38 |
7.85e-7 |
SMART |
WD40
|
43 |
82 |
1.96e-7 |
SMART |
WD40
|
85 |
125 |
5.47e-6 |
SMART |
WD40
|
128 |
167 |
1.5e-3 |
SMART |
WD40
|
169 |
217 |
2.48e-4 |
SMART |
WD40
|
227 |
266 |
4.91e-8 |
SMART |
WD40
|
269 |
308 |
7.05e-9 |
SMART |
SAM
|
327 |
394 |
1.12e-15 |
SMART |
Pfam:U-box
|
402 |
423 |
9.3e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139689
|
SMART Domains |
Protein: ENSMUSP00000121438 Gene: ENSMUSG00000026988
Domain | Start | End | E-Value | Type |
WD40
|
1 |
32 |
4.28e0 |
SMART |
WD40
|
34 |
82 |
2.48e-4 |
SMART |
WD40
|
92 |
131 |
4.91e-8 |
SMART |
WD40
|
134 |
173 |
7.05e-9 |
SMART |
Pfam:SAM_2
|
193 |
241 |
5.3e-10 |
PFAM |
Pfam:SAM_1
|
194 |
241 |
2.4e-11 |
PFAM |
|
Meta Mutation Damage Score |
0.8569 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 98.1%
|
Validation Efficiency |
98% (52/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
G |
T |
1: 11,615,491 (GRCm39) |
E155* |
probably null |
Het |
Abhd17a |
T |
C |
10: 80,422,470 (GRCm39) |
T71A |
probably benign |
Het |
Adgrv1 |
GTT |
GT |
13: 81,553,457 (GRCm39) |
|
probably null |
Het |
Adra2a |
T |
C |
19: 54,035,729 (GRCm39) |
S362P |
probably benign |
Het |
Arid1a |
T |
A |
4: 133,421,343 (GRCm39) |
N436Y |
unknown |
Het |
Cma2 |
T |
A |
14: 56,210,201 (GRCm39) |
C85S |
probably benign |
Het |
Cntn1 |
G |
A |
15: 92,132,347 (GRCm39) |
V148M |
probably damaging |
Het |
Cntn3 |
A |
G |
6: 102,181,023 (GRCm39) |
V724A |
probably damaging |
Het |
Dennd1a |
C |
T |
2: 37,690,497 (GRCm39) |
G868R |
probably benign |
Het |
Disp2 |
C |
T |
2: 118,617,467 (GRCm39) |
P154S |
probably damaging |
Het |
Dlgap1 |
A |
G |
17: 70,823,528 (GRCm39) |
D171G |
possibly damaging |
Het |
Dpp4 |
A |
C |
2: 62,164,958 (GRCm39) |
I697S |
probably damaging |
Het |
Dync2h1 |
A |
T |
9: 7,129,003 (GRCm39) |
D1837E |
probably benign |
Het |
Fbxo39 |
T |
A |
11: 72,208,466 (GRCm39) |
S273T |
probably damaging |
Het |
Fgf5 |
A |
T |
5: 98,423,411 (GRCm39) |
*265C |
probably null |
Het |
Fscb |
A |
G |
12: 64,520,758 (GRCm39) |
V236A |
possibly damaging |
Het |
Greb1l |
A |
T |
18: 10,510,747 (GRCm39) |
T614S |
probably damaging |
Het |
Gtdc1 |
A |
T |
2: 44,715,386 (GRCm39) |
N52K |
probably benign |
Het |
Il6ra |
T |
C |
3: 89,794,418 (GRCm39) |
D181G |
probably damaging |
Het |
Inhba |
T |
G |
13: 16,201,107 (GRCm39) |
V223G |
possibly damaging |
Het |
Kcnma1 |
T |
C |
14: 23,513,037 (GRCm39) |
|
probably benign |
Het |
Kdm2b |
C |
A |
5: 123,018,236 (GRCm39) |
W1068L |
probably null |
Het |
Mdn1 |
T |
C |
4: 32,773,275 (GRCm39) |
L5485P |
probably damaging |
Het |
Muc16 |
T |
C |
9: 18,518,763 (GRCm39) |
|
probably benign |
Het |
Ncapd3 |
T |
C |
9: 26,959,577 (GRCm39) |
F338L |
probably damaging |
Het |
Negr1 |
T |
A |
3: 156,721,918 (GRCm39) |
I164N |
probably damaging |
Het |
Nek9 |
A |
T |
12: 85,367,565 (GRCm39) |
C369S |
probably benign |
Het |
Ninl |
C |
T |
2: 150,801,816 (GRCm39) |
E151K |
probably damaging |
Het |
Nphp1 |
A |
T |
2: 127,595,982 (GRCm39) |
S494R |
possibly damaging |
Het |
Nphp4 |
G |
A |
4: 152,623,345 (GRCm39) |
R673H |
probably damaging |
Het |
Obscn |
C |
T |
11: 58,934,629 (GRCm39) |
|
probably benign |
Het |
Osbpl8 |
T |
C |
10: 111,091,575 (GRCm39) |
S82P |
probably benign |
Het |
Pcdhgb1 |
C |
A |
18: 37,814,133 (GRCm39) |
P208Q |
probably damaging |
Het |
Pik3c2b |
A |
G |
1: 133,018,517 (GRCm39) |
E988G |
possibly damaging |
Het |
Rfc1 |
A |
T |
5: 65,433,064 (GRCm39) |
M722K |
probably damaging |
Het |
Rnf111 |
A |
T |
9: 70,383,545 (GRCm39) |
N129K |
probably damaging |
Het |
Sdccag8 |
C |
A |
1: 176,783,374 (GRCm39) |
L628I |
probably damaging |
Het |
Sgcz |
G |
T |
8: 39,127,894 (GRCm39) |
D8E |
probably benign |
Het |
Sgip1 |
T |
A |
4: 102,790,781 (GRCm39) |
F254L |
|
Het |
Shf |
A |
G |
2: 122,187,728 (GRCm39) |
L26P |
probably damaging |
Het |
Slc39a5 |
G |
A |
10: 128,232,348 (GRCm39) |
A484V |
probably damaging |
Het |
Slco4c1 |
T |
A |
1: 96,795,672 (GRCm39) |
I129F |
probably damaging |
Het |
Tbck |
A |
T |
3: 132,440,106 (GRCm39) |
|
probably null |
Het |
Tcstv7b |
A |
T |
13: 120,702,515 (GRCm39) |
M104L |
probably benign |
Het |
Teddm3 |
A |
T |
16: 20,971,687 (GRCm39) |
V294E |
probably damaging |
Het |
Tent4b |
T |
A |
8: 88,979,023 (GRCm39) |
V508D |
probably benign |
Het |
Treml1 |
A |
T |
17: 48,667,466 (GRCm39) |
H117L |
probably damaging |
Het |
Trip12 |
G |
T |
1: 84,771,596 (GRCm39) |
T184N |
probably benign |
Het |
Tuba3b |
G |
T |
6: 145,566,954 (GRCm39) |
M398I |
possibly damaging |
Het |
Vcam1 |
T |
C |
3: 115,910,977 (GRCm39) |
I474V |
probably benign |
Het |
Zfp14 |
A |
T |
7: 29,737,600 (GRCm39) |
F462I |
probably damaging |
Het |
Zfp846 |
G |
A |
9: 20,505,726 (GRCm39) |
V529I |
probably benign |
Het |
Zfp873 |
A |
G |
10: 81,896,990 (GRCm39) |
T574A |
probably benign |
Het |
|
Other mutations in Wdsub1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02211:Wdsub1
|
APN |
2 |
59,689,080 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02887:Wdsub1
|
APN |
2 |
59,683,176 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02984:Wdsub1
|
UTSW |
2 |
59,707,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R0116:Wdsub1
|
UTSW |
2 |
59,707,009 (GRCm39) |
splice site |
probably null |
|
R0504:Wdsub1
|
UTSW |
2 |
59,708,669 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1437:Wdsub1
|
UTSW |
2 |
59,708,477 (GRCm39) |
missense |
probably damaging |
0.98 |
R1452:Wdsub1
|
UTSW |
2 |
59,707,144 (GRCm39) |
missense |
probably null |
|
R1566:Wdsub1
|
UTSW |
2 |
59,707,059 (GRCm39) |
missense |
probably damaging |
1.00 |
R1767:Wdsub1
|
UTSW |
2 |
59,689,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R2938:Wdsub1
|
UTSW |
2 |
59,703,630 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4209:Wdsub1
|
UTSW |
2 |
59,707,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R4583:Wdsub1
|
UTSW |
2 |
59,708,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R4794:Wdsub1
|
UTSW |
2 |
59,693,188 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4803:Wdsub1
|
UTSW |
2 |
59,700,743 (GRCm39) |
intron |
probably benign |
|
R4987:Wdsub1
|
UTSW |
2 |
59,700,737 (GRCm39) |
intron |
probably benign |
|
R4989:Wdsub1
|
UTSW |
2 |
59,700,758 (GRCm39) |
intron |
probably benign |
|
R5311:Wdsub1
|
UTSW |
2 |
59,708,873 (GRCm39) |
utr 5 prime |
probably benign |
|
R5402:Wdsub1
|
UTSW |
2 |
59,700,822 (GRCm39) |
missense |
probably benign |
|
R5408:Wdsub1
|
UTSW |
2 |
59,691,887 (GRCm39) |
unclassified |
probably benign |
|
R5572:Wdsub1
|
UTSW |
2 |
59,693,051 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5681:Wdsub1
|
UTSW |
2 |
59,683,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R5864:Wdsub1
|
UTSW |
2 |
59,708,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R6582:Wdsub1
|
UTSW |
2 |
59,708,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R6638:Wdsub1
|
UTSW |
2 |
59,700,785 (GRCm39) |
intron |
probably benign |
|
R6678:Wdsub1
|
UTSW |
2 |
59,692,975 (GRCm39) |
missense |
probably benign |
0.45 |
R6842:Wdsub1
|
UTSW |
2 |
59,708,532 (GRCm39) |
missense |
probably benign |
0.09 |
R6907:Wdsub1
|
UTSW |
2 |
59,692,028 (GRCm39) |
missense |
possibly damaging |
0.59 |
R7041:Wdsub1
|
UTSW |
2 |
59,683,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R7288:Wdsub1
|
UTSW |
2 |
59,708,487 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7769:Wdsub1
|
UTSW |
2 |
59,708,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R7942:Wdsub1
|
UTSW |
2 |
59,707,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R8291:Wdsub1
|
UTSW |
2 |
59,693,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R8309:Wdsub1
|
UTSW |
2 |
59,704,578 (GRCm39) |
unclassified |
probably benign |
|
R8458:Wdsub1
|
UTSW |
2 |
59,692,045 (GRCm39) |
missense |
probably benign |
0.00 |
R8775:Wdsub1
|
UTSW |
2 |
59,693,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R8775-TAIL:Wdsub1
|
UTSW |
2 |
59,693,014 (GRCm39) |
missense |
probably damaging |
1.00 |
X0023:Wdsub1
|
UTSW |
2 |
59,707,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GATTCCAAACTTACTATGCCCAG -3'
(R):5'- GGAACGTTTCACTTCACAGACC -3'
Sequencing Primer
(F):5'- CAGTCACAGCAAGCTTATGA -3'
(R):5'- AGACCTTCCCTTGCTGCCTAATG -3'
|
Posted On |
2021-10-11 |