Incidental Mutation 'IGL01605:Wbp1l'
| ID |
278741 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wbp1l
|
| Ensembl Gene |
ENSMUSG00000047731 |
| Gene Name |
WW domain binding protein 1 like |
| Synonyms |
D19Wsu162e |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01605
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
46587545-46645828 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46642839 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 264
(D264G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099376]
[ENSMUST00000111855]
[ENSMUST00000132202]
[ENSMUST00000138302]
|
| AlphaFold |
Q8BGW2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099376
AA Change: D280G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000096975
Gene: ENSMUSG00000047731
AA Change: D280G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:WBP-1
|
59 |
160 |
1.2e-52 |
PFAM |
|
low complexity region
|
163 |
214 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111855
AA Change: D243G
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107486
Gene: ENSMUSG00000047731
AA Change: D243G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WBP-1
|
22 |
123 |
1.1e-52 |
PFAM |
|
low complexity region
|
126 |
177 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132202
|
| SMART Domains |
Protein: ENSMUSP00000121821
Gene: ENSMUSG00000047731
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:WBP-1
|
43 |
72 |
1.7e-9 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000138302
AA Change: D264G
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117929
Gene: ENSMUSG00000047731
AA Change: D264G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:WBP-1
|
43 |
144 |
1.2e-52 |
PFAM |
|
low complexity region
|
147 |
198 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156649
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brip1 |
T |
A |
11: 85,952,830 (GRCm39) |
T984S |
possibly damaging |
Het |
| Cdh17 |
T |
C |
4: 11,795,670 (GRCm39) |
Y417H |
probably damaging |
Het |
| Chd7 |
T |
A |
4: 8,833,834 (GRCm39) |
I1196N |
probably damaging |
Het |
| Cyp3a57 |
T |
C |
5: 145,323,854 (GRCm39) |
F447S |
probably damaging |
Het |
| Dock8 |
C |
T |
19: 25,067,252 (GRCm39) |
|
probably benign |
Het |
| Eif1ad5 |
A |
T |
12: 87,940,530 (GRCm39) |
|
noncoding transcript |
Het |
| Fam163b |
A |
G |
2: 27,002,688 (GRCm39) |
F103S |
probably damaging |
Het |
| G0s2 |
A |
G |
1: 192,954,964 (GRCm39) |
L40P |
probably damaging |
Het |
| Gucy1b1 |
C |
T |
3: 81,942,660 (GRCm39) |
R494Q |
probably benign |
Het |
| Hsd17b1 |
T |
C |
11: 100,969,755 (GRCm39) |
V89A |
probably damaging |
Het |
| Iqcg |
T |
C |
16: 32,837,348 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,148,192 (GRCm39) |
|
probably benign |
Het |
| Mmp17 |
A |
G |
5: 129,679,008 (GRCm39) |
D331G |
probably benign |
Het |
| Mnx1 |
T |
C |
5: 29,682,591 (GRCm39) |
D228G |
unknown |
Het |
| Msh2 |
T |
C |
17: 88,003,917 (GRCm39) |
|
probably benign |
Het |
| Pabpc1 |
A |
G |
15: 36,599,550 (GRCm39) |
Y382H |
probably benign |
Het |
| Prl7b1 |
A |
G |
13: 27,786,027 (GRCm39) |
S214P |
possibly damaging |
Het |
| Ptk2 |
C |
T |
15: 73,136,188 (GRCm39) |
|
probably benign |
Het |
| Rbpj-ps3 |
T |
C |
6: 46,507,025 (GRCm39) |
|
probably benign |
Het |
| Sgsm1 |
A |
T |
5: 113,433,531 (GRCm39) |
M162K |
possibly damaging |
Het |
| Skint2 |
A |
G |
4: 112,483,191 (GRCm39) |
T199A |
probably benign |
Het |
| Stim1 |
A |
G |
7: 102,035,322 (GRCm39) |
D100G |
possibly damaging |
Het |
| Taar5 |
C |
T |
10: 23,846,962 (GRCm39) |
T120I |
probably benign |
Het |
| Trhde |
A |
G |
10: 114,623,848 (GRCm39) |
V352A |
probably benign |
Het |
| Ubap2 |
T |
A |
4: 41,227,237 (GRCm39) |
D160V |
probably damaging |
Het |
| Vmn2r18 |
A |
G |
5: 151,510,106 (GRCm39) |
V89A |
possibly damaging |
Het |
|
| Other mutations in Wbp1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01147:Wbp1l
|
APN |
19 |
46,632,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01602:Wbp1l
|
APN |
19 |
46,642,839 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01820:Wbp1l
|
APN |
19 |
46,640,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02058:Wbp1l
|
APN |
19 |
46,640,959 (GRCm39) |
nonsense |
probably null |
|
|
IGL02117:Wbp1l
|
APN |
19 |
46,632,876 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02245:Wbp1l
|
APN |
19 |
46,643,057 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL02321:Wbp1l
|
APN |
19 |
46,642,749 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03126:Wbp1l
|
APN |
19 |
46,632,838 (GRCm39) |
missense |
probably damaging |
0.96 |
|
PIT4810001:Wbp1l
|
UTSW |
19 |
46,642,761 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0610:Wbp1l
|
UTSW |
19 |
46,643,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1636:Wbp1l
|
UTSW |
19 |
46,632,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3978:Wbp1l
|
UTSW |
19 |
46,642,396 (GRCm39) |
splice site |
probably null |
|
|
R3980:Wbp1l
|
UTSW |
19 |
46,642,396 (GRCm39) |
splice site |
probably null |
|
|
R5387:Wbp1l
|
UTSW |
19 |
46,632,896 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5524:Wbp1l
|
UTSW |
19 |
46,642,695 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5889:Wbp1l
|
UTSW |
19 |
46,642,619 (GRCm39) |
nonsense |
probably null |
|
|
R5935:Wbp1l
|
UTSW |
19 |
46,642,619 (GRCm39) |
nonsense |
probably null |
|
|
R5942:Wbp1l
|
UTSW |
19 |
46,642,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5964:Wbp1l
|
UTSW |
19 |
46,642,619 (GRCm39) |
nonsense |
probably null |
|
|
R5966:Wbp1l
|
UTSW |
19 |
46,642,619 (GRCm39) |
nonsense |
probably null |
|
|
R6480:Wbp1l
|
UTSW |
19 |
46,642,758 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7290:Wbp1l
|
UTSW |
19 |
46,611,876 (GRCm39) |
intron |
probably benign |
|
|
R7297:Wbp1l
|
UTSW |
19 |
46,642,839 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7363:Wbp1l
|
UTSW |
19 |
46,642,569 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8493:Wbp1l
|
UTSW |
19 |
46,640,988 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9178:Wbp1l
|
UTSW |
19 |
46,640,933 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation