Incidental Mutation 'R5864:Wdsub1'
ID |
454040 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdsub1
|
Ensembl Gene |
ENSMUSG00000026988 |
Gene Name |
WD repeat, SAM and U-box domain containing 1 |
Synonyms |
2610014F08Rik, 1700048E19Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R5864 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
59682708-59712935 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 59708819 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 18
(C18Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099812
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028368]
[ENSMUST00000102751]
[ENSMUST00000128671]
[ENSMUST00000133809]
[ENSMUST00000140475]
|
AlphaFold |
Q9D0I6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028368
AA Change: C18Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000028368 Gene: ENSMUSG00000026988 AA Change: C18Y
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: C18Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099812 Gene: ENSMUSG00000026988 AA Change: C18Y
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 |
possibly damaging
Transcript: ENSMUST00000128671
AA Change: C18Y
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000121242 Gene: ENSMUSG00000026988 AA Change: C18Y
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 |
Blast:WD40
|
169 |
194 |
1e-9 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131285
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133809
|
SMART Domains |
Protein: ENSMUSP00000114814 Gene: ENSMUSG00000026988
Domain | Start | End | E-Value | Type |
WD40
|
7 |
46 |
1.5e-3 |
SMART |
WD40
|
48 |
96 |
2.48e-4 |
SMART |
WD40
|
106 |
145 |
6e-3 |
SMART |
low complexity region
|
163 |
175 |
N/A |
INTRINSIC |
|
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 |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000140475
AA Change: C18Y
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000114811 Gene: ENSMUSG00000026988 AA Change: C18Y
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 |
Blast:WD40
|
169 |
194 |
1e-9 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144343
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140852
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot4 |
A |
T |
12: 84,090,178 (GRCm39) |
I292F |
probably benign |
Het |
Adamdec1 |
A |
G |
14: 68,807,551 (GRCm39) |
S370P |
probably damaging |
Het |
Ankar |
T |
C |
1: 72,698,324 (GRCm39) |
K692R |
probably benign |
Het |
Ano6 |
T |
C |
15: 95,818,261 (GRCm39) |
|
probably null |
Het |
Asns |
G |
A |
6: 7,675,443 (GRCm39) |
Q520* |
probably null |
Het |
Bbs12 |
C |
T |
3: 37,373,639 (GRCm39) |
T144I |
probably damaging |
Het |
C8g |
C |
T |
2: 25,388,955 (GRCm39) |
G186D |
probably damaging |
Het |
Clptm1l |
T |
C |
13: 73,754,403 (GRCm39) |
F109S |
probably damaging |
Het |
Coa8 |
G |
A |
12: 111,717,652 (GRCm39) |
V171I |
probably benign |
Het |
Col4a1 |
G |
A |
8: 11,252,973 (GRCm39) |
|
probably benign |
Het |
Cpn2 |
T |
C |
16: 30,078,501 (GRCm39) |
D400G |
probably damaging |
Het |
Dgke |
G |
C |
11: 88,941,288 (GRCm39) |
Y298* |
probably null |
Het |
Dnah5 |
G |
A |
15: 28,297,159 (GRCm39) |
R1451Q |
possibly damaging |
Het |
Dock8 |
A |
G |
19: 25,038,584 (GRCm39) |
D90G |
probably damaging |
Het |
Dok7 |
A |
C |
5: 35,223,890 (GRCm39) |
D143A |
probably damaging |
Het |
Elk3 |
G |
A |
10: 93,120,653 (GRCm39) |
A62V |
probably damaging |
Het |
Epha2 |
T |
A |
4: 141,035,738 (GRCm39) |
M58K |
probably damaging |
Het |
Erp27 |
G |
T |
6: 136,885,098 (GRCm39) |
D233E |
probably benign |
Het |
Gm5174 |
T |
A |
10: 86,493,045 (GRCm39) |
|
noncoding transcript |
Het |
Gxylt2 |
A |
G |
6: 100,760,107 (GRCm39) |
D214G |
probably damaging |
Het |
Hrob |
G |
A |
11: 102,145,972 (GRCm39) |
E83K |
probably benign |
Het |
Ifi35 |
A |
T |
11: 101,349,069 (GRCm39) |
I238F |
probably damaging |
Het |
Ighmbp2 |
T |
C |
19: 3,311,467 (GRCm39) |
T983A |
probably benign |
Het |
Itgb4 |
C |
T |
11: 115,881,748 (GRCm39) |
R766W |
probably damaging |
Het |
Lrp1 |
C |
A |
10: 127,403,374 (GRCm39) |
K2066N |
possibly damaging |
Het |
Mansc1 |
T |
G |
6: 134,587,816 (GRCm39) |
|
probably null |
Het |
Mapre3 |
T |
C |
5: 31,020,582 (GRCm39) |
F101S |
probably damaging |
Het |
Mettl8 |
T |
C |
2: 70,812,357 (GRCm39) |
T58A |
probably benign |
Het |
Mical1 |
G |
T |
10: 41,362,064 (GRCm39) |
R857L |
possibly damaging |
Het |
Nacad |
T |
C |
11: 6,550,581 (GRCm39) |
D870G |
probably benign |
Het |
Nectin1 |
A |
G |
9: 43,702,607 (GRCm39) |
D118G |
probably damaging |
Het |
Nlrp2 |
A |
T |
7: 5,325,380 (GRCm39) |
L26Q |
probably damaging |
Het |
Or10a3m |
A |
G |
7: 108,312,671 (GRCm39) |
D25G |
probably benign |
Het |
Pamr1 |
T |
C |
2: 102,464,693 (GRCm39) |
S281P |
possibly damaging |
Het |
Pcdhgc5 |
T |
A |
18: 37,954,814 (GRCm39) |
V696E |
probably damaging |
Het |
Pde4d |
G |
T |
13: 110,074,582 (GRCm39) |
A396S |
probably benign |
Het |
Pecam1 |
G |
T |
11: 106,575,076 (GRCm39) |
C510* |
probably null |
Het |
Pga5 |
C |
T |
19: 10,652,513 (GRCm39) |
G76S |
probably damaging |
Het |
Phldb3 |
A |
T |
7: 24,323,571 (GRCm39) |
H435L |
possibly damaging |
Het |
Piezo1 |
T |
C |
8: 123,213,112 (GRCm39) |
R1884G |
possibly damaging |
Het |
Ripk4 |
T |
C |
16: 97,564,782 (GRCm39) |
H43R |
probably damaging |
Het |
Rtn3 |
A |
G |
19: 7,412,476 (GRCm39) |
V785A |
probably damaging |
Het |
Safb2 |
A |
G |
17: 56,873,491 (GRCm39) |
|
probably benign |
Het |
Sephs1 |
T |
C |
2: 4,910,393 (GRCm39) |
F288L |
probably damaging |
Het |
Sez6l |
A |
G |
5: 112,586,266 (GRCm39) |
|
probably null |
Het |
Siglece |
A |
G |
7: 43,308,741 (GRCm39) |
L204P |
probably damaging |
Het |
Sis |
T |
C |
3: 72,857,151 (GRCm39) |
D380G |
probably damaging |
Het |
Slamf9 |
G |
T |
1: 172,304,033 (GRCm39) |
R126L |
probably benign |
Het |
Sorl1 |
A |
G |
9: 42,003,669 (GRCm39) |
L209P |
probably damaging |
Het |
Sptbn1 |
A |
C |
11: 30,095,925 (GRCm39) |
I310S |
probably damaging |
Het |
Tex52 |
A |
G |
6: 128,356,645 (GRCm39) |
T113A |
probably benign |
Het |
Trav6-3 |
T |
A |
14: 53,667,628 (GRCm39) |
Y33* |
probably null |
Het |
Vmn2r102 |
A |
G |
17: 19,914,943 (GRCm39) |
E836G |
possibly damaging |
Het |
Zfp341 |
C |
A |
2: 154,485,474 (GRCm39) |
H637N |
possibly damaging |
Het |
Zfp445 |
C |
T |
9: 122,682,552 (GRCm39) |
S463N |
probably benign |
Het |
Zfp612 |
G |
A |
8: 110,816,358 (GRCm39) |
D522N |
probably 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 |
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 |
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'- AAGCAATGGATCCATCGGC -3'
(R):5'- AAAACGGGACTTTTGTGGGG -3'
Sequencing Primer
(F):5'- CTGACGCTAGGTAGGCAGAGTC -3'
(R):5'- TGGGGTAGATTCTTTTTCTCAGAC -3'
|
Posted On |
2017-02-10 |