Incidental Mutation 'IGL02984:Wdsub1'
| ID |
453257 |
| 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: 0.101)
|
| Stock # |
IGL02984 (G1)
|
| Quality Score |
149 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
59682708-59712935 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59707173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 20
(S20P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114814
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028368]
[ENSMUST00000102751]
[ENSMUST00000128671]
[ENSMUST00000133809]
[ENSMUST00000140475]
|
| AlphaFold |
Q9D0I6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028368
AA Change: S141P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028368
Gene: ENSMUSG00000026988
AA Change: S141P
| 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: S141P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099812
Gene: ENSMUSG00000026988
AA Change: S141P
| 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: S141P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000121242
Gene: ENSMUSG00000026988
AA Change: S141P
| 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 damaging
Transcript: ENSMUST00000133809
AA Change: S20P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114814
Gene: ENSMUSG00000026988
AA Change: S20P
| 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 |
possibly damaging
Transcript: ENSMUST00000139689
AA Change: S5P
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000121438
Gene: ENSMUSG00000026988
AA Change: S5P
| 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: S141P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000114811
Gene: ENSMUSG00000026988
AA Change: S141P
| 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
|
| Meta Mutation Damage Score |
0.2759 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
A |
5: 88,120,662 (GRCm39) |
I473N |
probably damaging |
Het |
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| A530064D06Rik |
T |
C |
17: 48,470,448 (GRCm39) |
I178V |
probably benign |
Het |
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Aldh1l2 |
G |
A |
10: 83,363,199 (GRCm39) |
P55S |
probably damaging |
Het |
| Bglap3 |
T |
C |
3: 88,276,098 (GRCm39) |
T85A |
possibly damaging |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Csrnp3 |
A |
G |
2: 65,852,553 (GRCm39) |
D315G |
probably benign |
Het |
| Dclk3 |
T |
C |
9: 111,317,643 (GRCm39) |
Y760H |
probably damaging |
Het |
| Eef1akmt2 |
A |
G |
7: 132,438,935 (GRCm39) |
*52R |
probably null |
Het |
| Epc2 |
A |
G |
2: 49,418,866 (GRCm39) |
K225E |
probably damaging |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Foxi2 |
C |
T |
7: 135,012,127 (GRCm39) |
T5M |
possibly damaging |
Het |
| Frmd4b |
T |
A |
6: 97,273,221 (GRCm39) |
T670S |
probably damaging |
Het |
| Gm14137 |
G |
T |
2: 119,005,961 (GRCm39) |
E173D |
probably damaging |
Het |
| Kif12 |
GGGGC |
GGGGCCTCCACCCGGCGGGC |
4: 63,089,660 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b3-ps |
G |
A |
10: 39,823,184 (GRCm39) |
|
probably benign |
Het |
| Mlst8 |
A |
G |
17: 24,695,127 (GRCm39) |
F252S |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mogs |
A |
G |
6: 83,094,296 (GRCm39) |
K371R |
probably benign |
Het |
| Nsun2 |
T |
C |
13: 69,691,727 (GRCm39) |
|
probably benign |
Het |
| Otog |
T |
A |
7: 45,954,932 (GRCm39) |
C2702S |
probably damaging |
Het |
| Plekhg4 |
A |
G |
8: 106,107,020 (GRCm39) |
E905G |
probably damaging |
Het |
| Rtn4rl1 |
T |
C |
11: 75,156,087 (GRCm39) |
V173A |
probably benign |
Het |
| Sall3 |
T |
C |
18: 81,016,665 (GRCm39) |
E421G |
probably benign |
Het |
| Setd6 |
G |
A |
8: 96,442,903 (GRCm39) |
|
probably null |
Het |
| Sh3tc1 |
T |
C |
5: 35,871,403 (GRCm39) |
|
probably null |
Het |
| Slc35f5 |
T |
A |
1: 125,490,250 (GRCm39) |
Y71N |
probably benign |
Het |
| Snx1 |
A |
G |
9: 65,996,390 (GRCm39) |
|
probably benign |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Sspo |
T |
C |
6: 48,472,089 (GRCm39) |
V792A |
probably benign |
Het |
| Sufu |
C |
A |
19: 46,462,038 (GRCm39) |
D350E |
probably benign |
Het |
| Trav18 |
C |
A |
14: 54,069,026 (GRCm39) |
Q23K |
probably damaging |
Het |
| Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
| Usp17le |
T |
A |
7: 104,418,311 (GRCm39) |
H277L |
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 |
|
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 |
|
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'- CGCTTAGAAGAGTGAGCCAACC -3'
(R):5'- AGATTGTAGCCCAGGTCTAGG -3'
Sequencing Primer
(F):5'- TTAGAAGAGTGAGCCAACCAACCAG -3'
(R):5'- CTAGGCTCATGGGTATCAGCTAC -3'
|
| Posted On |
2017-02-01 |
Incidental Mutation