Incidental Mutation 'R8775:Wdsub1'
| ID |
664645 |
| 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 |
068719-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R8775 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
59682708-59712935 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59693014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 300
(M300T)
|
| 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: M300T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028368
Gene: ENSMUSG00000026988
AA Change: M300T
| 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: M300T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099812
Gene: ENSMUSG00000026988
AA Change: M300T
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000121438
Gene: ENSMUSG00000026988
AA Change: M164T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck2 |
T |
C |
6: 39,552,142 (GRCm39) |
|
probably null |
Het |
| Alpk3 |
A |
C |
7: 80,727,598 (GRCm39) |
M243L |
probably benign |
Het |
| Anapc1 |
A |
T |
2: 128,499,093 (GRCm39) |
Y860N |
possibly damaging |
Het |
| Asprv1 |
T |
C |
6: 86,605,321 (GRCm39) |
S56P |
probably damaging |
Het |
| D130043K22Rik |
G |
T |
13: 25,040,982 (GRCm39) |
E135* |
probably null |
Het |
| Dnmt3b |
A |
G |
2: 153,511,711 (GRCm39) |
H293R |
possibly damaging |
Het |
| Dsg1a |
C |
T |
18: 20,473,564 (GRCm39) |
S879L |
probably damaging |
Het |
| Fbxo24 |
C |
T |
5: 137,611,213 (GRCm39) |
A526T |
possibly damaging |
Het |
| Fign |
A |
T |
2: 63,810,891 (GRCm39) |
D126E |
probably benign |
Het |
| Gpr137 |
A |
G |
19: 6,915,800 (GRCm39) |
F377L |
probably damaging |
Het |
| Gsdma2 |
A |
G |
11: 98,540,009 (GRCm39) |
K44E |
probably damaging |
Het |
| Iigp1 |
A |
C |
18: 60,523,596 (GRCm39) |
Y238S |
probably damaging |
Het |
| Itga8 |
C |
G |
2: 12,187,495 (GRCm39) |
G728A |
probably damaging |
Het |
| Kcnip2 |
T |
C |
19: 45,782,149 (GRCm39) |
N258S |
possibly damaging |
Het |
| Lcat |
A |
G |
8: 106,669,023 (GRCm39) |
I84T |
possibly damaging |
Het |
| Mansc1 |
C |
T |
6: 134,587,631 (GRCm39) |
R182H |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,148,006 (GRCm39) |
M1685T |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,800,145 (GRCm39) |
V1407E |
probably damaging |
Het |
| Ncam2 |
T |
A |
16: 81,314,429 (GRCm39) |
N468K |
probably benign |
Het |
| Nckap1 |
A |
G |
2: 80,375,410 (GRCm39) |
S297P |
probably benign |
Het |
| Nefm |
T |
C |
14: 68,362,108 (GRCm39) |
Y52C |
probably damaging |
Het |
| Ntng2 |
A |
T |
2: 29,117,976 (GRCm39) |
N157K |
possibly damaging |
Het |
| Oscp1 |
T |
C |
4: 125,970,619 (GRCm39) |
V136A |
probably benign |
Het |
| Oser1 |
G |
A |
2: 163,249,004 (GRCm39) |
T66I |
probably benign |
Het |
| Palld |
A |
G |
8: 62,138,006 (GRCm39) |
L583P |
possibly damaging |
Het |
| Pex7 |
A |
G |
10: 19,760,522 (GRCm39) |
|
probably null |
Het |
| Ppp2r3d |
A |
G |
9: 101,004,204 (GRCm39) |
Y378H |
probably benign |
Het |
| Prss33 |
T |
A |
17: 24,052,885 (GRCm39) |
N263I |
possibly damaging |
Het |
| Psg25 |
A |
C |
7: 18,255,153 (GRCm39) |
C454W |
probably damaging |
Het |
| Ptpn21 |
T |
C |
12: 98,649,001 (GRCm39) |
|
probably null |
Het |
| Sh3bp2 |
A |
T |
5: 34,719,751 (GRCm39) |
S587C |
probably damaging |
Het |
| Sos2 |
A |
G |
12: 69,664,006 (GRCm39) |
F493L |
probably benign |
Het |
| St8sia4 |
T |
A |
1: 95,519,472 (GRCm39) |
T339S |
possibly damaging |
Het |
| Taok1 |
T |
C |
11: 77,470,632 (GRCm39) |
K58E |
probably benign |
Het |
| Thsd1 |
A |
G |
8: 22,749,643 (GRCm39) |
D838G |
possibly damaging |
Het |
| Tulp2 |
A |
G |
7: 45,164,914 (GRCm39) |
T65A |
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,638,466 (GRCm39) |
S205T |
probably benign |
Het |
| Vmn2r16 |
C |
T |
5: 109,488,231 (GRCm39) |
T368M |
probably benign |
Het |
| Vmn2r37 |
A |
T |
7: 9,218,991 (GRCm39) |
Y464* |
probably null |
Het |
| Xrcc5 |
C |
T |
1: 72,433,089 (GRCm39) |
T716I |
probably benign |
Het |
| Zfp619 |
G |
T |
7: 39,184,639 (GRCm39) |
C223F |
possibly damaging |
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-TAIL:Wdsub1
|
UTSW |
2 |
59,693,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8997:Wdsub1
|
UTSW |
2 |
59,688,977 (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'- AGGATGCTCATCGATTGGC -3'
(R):5'- TAGCCTGTCTCCTGTCCAAG -3'
Sequencing Primer
(F):5'- CTCATCGATTGGCCTGGG -3'
(R):5'- TGTCTTTCAGGGCCCTCAGAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation