Incidental Mutation 'R5572:Wdsub1'
| ID |
435708 |
| 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 |
043266-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R5572 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
59682708-59712935 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59693051 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 288
(F288L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099812
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028368]
[ENSMUST00000102751]
|
| AlphaFold |
Q9D0I6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028368
AA Change: F288L
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000028368
Gene: ENSMUSG00000026988
AA Change: F288L
| 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 |
possibly damaging
Transcript: ENSMUST00000102751
AA Change: F288L
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099812
Gene: ENSMUSG00000026988
AA Change: F288L
| 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 |
noncoding transcript
Transcript: ENSMUST00000127004
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138519
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000139689
AA Change: F152L
|
| SMART Domains |
Protein: ENSMUSP00000121438
Gene: ENSMUSG00000026988
AA Change: F152L
| 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 |
noncoding transcript
Transcript: ENSMUST00000144343
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144823
|
| Meta Mutation Damage Score |
0.3086 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
C |
T |
5: 8,765,108 (GRCm39) |
|
probably null |
Het |
| Abcd4 |
T |
C |
12: 84,653,050 (GRCm39) |
D380G |
probably benign |
Het |
| Actr3b |
T |
A |
5: 26,014,886 (GRCm39) |
D68E |
probably benign |
Het |
| Apol10a |
T |
C |
15: 77,372,834 (GRCm39) |
S157P |
probably damaging |
Het |
| Arap3 |
A |
T |
18: 38,124,119 (GRCm39) |
I327N |
probably damaging |
Het |
| Arnt |
G |
T |
3: 95,382,015 (GRCm39) |
V198L |
possibly damaging |
Het |
| Baiap3 |
T |
A |
17: 25,470,449 (GRCm39) |
D86V |
possibly damaging |
Het |
| Bcl9l |
G |
T |
9: 44,412,095 (GRCm39) |
R27L |
possibly damaging |
Het |
| Bltp2 |
A |
T |
11: 78,155,393 (GRCm39) |
D167V |
probably damaging |
Het |
| C1qc |
T |
C |
4: 136,619,773 (GRCm39) |
Y34C |
probably benign |
Het |
| C1rb |
T |
C |
6: 124,557,758 (GRCm39) |
S632P |
probably benign |
Het |
| C3 |
A |
G |
17: 57,531,673 (GRCm39) |
S284P |
probably damaging |
Het |
| Cfap44 |
T |
G |
16: 44,301,668 (GRCm39) |
V1802G |
possibly damaging |
Het |
| Cfhr1 |
A |
G |
1: 139,484,165 (GRCm39) |
V117A |
possibly damaging |
Het |
| Clca3b |
T |
C |
3: 144,533,070 (GRCm39) |
D654G |
probably damaging |
Het |
| Col17a1 |
A |
T |
19: 47,639,168 (GRCm39) |
S1126T |
probably benign |
Het |
| Cts3 |
T |
A |
13: 61,712,782 (GRCm39) |
I313F |
probably damaging |
Het |
| Egfl7 |
T |
C |
2: 26,481,703 (GRCm39) |
V6A |
possibly damaging |
Het |
| Eif2s3y |
G |
A |
Y: 1,016,631 (GRCm39) |
D272N |
probably damaging |
Het |
| Foxp4 |
A |
G |
17: 48,191,804 (GRCm39) |
V111A |
unknown |
Het |
| Hmcn2 |
A |
T |
2: 31,304,537 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
G |
A |
2: 31,304,538 (GRCm39) |
|
probably null |
Het |
| Igsf11 |
C |
T |
16: 38,845,294 (GRCm39) |
R283C |
probably damaging |
Het |
| Il1a |
A |
G |
2: 129,149,838 (GRCm39) |
Y21H |
possibly damaging |
Het |
| Il6ra |
A |
T |
3: 89,778,589 (GRCm39) |
V420D |
probably damaging |
Het |
| Kdm5a |
T |
C |
6: 120,389,336 (GRCm39) |
V921A |
possibly damaging |
Het |
| Kirrel3 |
G |
A |
9: 34,912,244 (GRCm39) |
A196T |
probably damaging |
Het |
| Klra1 |
T |
A |
6: 130,349,802 (GRCm39) |
D212V |
possibly damaging |
Het |
| N4bp2l2 |
G |
A |
5: 150,585,755 (GRCm39) |
T75I |
probably benign |
Het |
| Niban1 |
T |
C |
1: 151,584,941 (GRCm39) |
S513P |
probably benign |
Het |
| Nnmt |
A |
G |
9: 48,503,447 (GRCm39) |
L193P |
probably damaging |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Ntm |
A |
G |
9: 28,925,512 (GRCm39) |
I191T |
probably damaging |
Het |
| Or2ak5 |
A |
G |
11: 58,611,055 (GRCm39) |
V273A |
probably benign |
Het |
| Or52d13 |
A |
C |
7: 103,109,905 (GRCm39) |
L170R |
probably benign |
Het |
| Or52h7 |
A |
T |
7: 104,214,201 (GRCm39) |
T258S |
probably benign |
Het |
| Pam |
A |
C |
1: 97,782,469 (GRCm39) |
|
probably benign |
Het |
| Pomk |
T |
A |
8: 26,473,218 (GRCm39) |
H245L |
possibly damaging |
Het |
| Rapgef4 |
G |
A |
2: 71,864,464 (GRCm39) |
|
probably null |
Het |
| Rasip1 |
G |
T |
7: 45,286,153 (GRCm39) |
R792L |
probably benign |
Het |
| Ret |
T |
C |
6: 118,132,392 (GRCm39) |
Y1016C |
probably damaging |
Het |
| Rhbdd1 |
A |
T |
1: 82,318,531 (GRCm39) |
N138I |
possibly damaging |
Het |
| Snx13 |
T |
G |
12: 35,153,119 (GRCm39) |
V383G |
probably damaging |
Het |
| Syt3 |
A |
G |
7: 44,040,142 (GRCm39) |
H125R |
probably benign |
Het |
| Tlr6 |
A |
T |
5: 65,112,361 (GRCm39) |
L182Q |
probably damaging |
Het |
| Tlr9 |
T |
C |
9: 106,102,836 (GRCm39) |
V709A |
possibly damaging |
Het |
| Tmprss6 |
T |
C |
15: 78,326,622 (GRCm39) |
Y655C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,683,972 (GRCm39) |
|
probably benign |
Het |
| Ube3a |
T |
C |
7: 58,938,525 (GRCm39) |
I761T |
probably damaging |
Het |
| Ube3b |
G |
A |
5: 114,544,240 (GRCm39) |
D546N |
probably damaging |
Het |
| Ugt2b36 |
A |
G |
5: 87,237,341 (GRCm39) |
V188A |
possibly damaging |
Het |
| Usp29 |
A |
G |
7: 6,965,191 (GRCm39) |
I345V |
probably benign |
Het |
| Vmn2r78 |
A |
G |
7: 86,564,720 (GRCm39) |
K55R |
probably benign |
Het |
| Zan |
C |
T |
5: 137,392,693 (GRCm39) |
V4601M |
unknown |
Het |
| Zbtb8b |
T |
C |
4: 129,322,334 (GRCm39) |
K376E |
probably damaging |
Het |
| Zfp619 |
A |
T |
7: 39,184,663 (GRCm39) |
Y231F |
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 |
|
|
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 |
|
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'- TGGGTTAAGGATGCTCATCG -3'
(R):5'- CTGTCTCCTGTCCAAGTAACAG -3'
Sequencing Primer
(F):5'- AAGGATGCTCATCGATTGGCC -3'
(R):5'- CCTGTCCAAGTAACAGTTACTCTG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation