Incidental Mutation 'IGL02058:Wbp1l'
| ID |
185284 |
| 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 # |
IGL02058
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
46587545-46645828 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 46640959 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 80
(C80*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099376]
[ENSMUST00000111855]
[ENSMUST00000132202]
[ENSMUST00000138302]
|
| AlphaFold |
Q8BGW2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000099376
AA Change: C96*
|
| SMART Domains |
Protein: ENSMUSP00000096975
Gene: ENSMUSG00000047731
AA Change: C96*
| 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 |
probably null
Transcript: ENSMUST00000111855
AA Change: C59*
|
| SMART Domains |
Protein: ENSMUSP00000107486
Gene: ENSMUSG00000047731
AA Change: C59*
| 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 |
probably null
Transcript: ENSMUST00000138302
AA Change: C80*
|
| SMART Domains |
Protein: ENSMUSP00000117929
Gene: ENSMUSG00000047731
AA Change: C80*
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
A |
2: 69,073,842 (GRCm39) |
A1228S |
probably damaging |
Het |
| Adamts12 |
G |
A |
15: 11,215,696 (GRCm39) |
R239K |
probably benign |
Het |
| Akap6 |
A |
G |
12: 53,187,338 (GRCm39) |
D1584G |
probably damaging |
Het |
| Asns |
A |
G |
6: 7,685,184 (GRCm39) |
C158R |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,753,540 (GRCm39) |
L714P |
probably damaging |
Het |
| Ccdc126 |
G |
T |
6: 49,311,134 (GRCm39) |
E47D |
probably benign |
Het |
| Cemip |
T |
C |
7: 83,646,500 (GRCm39) |
S183G |
probably damaging |
Het |
| Cntn3 |
A |
G |
6: 102,176,321 (GRCm39) |
|
probably benign |
Het |
| Cyp11b2 |
G |
T |
15: 74,725,038 (GRCm39) |
N270K |
probably benign |
Het |
| Ephx2 |
A |
G |
14: 66,341,173 (GRCm39) |
|
probably null |
Het |
| Fcho2 |
G |
A |
13: 98,867,414 (GRCm39) |
T683I |
probably damaging |
Het |
| Grm7 |
G |
A |
6: 111,335,278 (GRCm39) |
C563Y |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,579,932 (GRCm39) |
N1935S |
probably benign |
Het |
| Hus1b |
A |
G |
13: 31,130,900 (GRCm39) |
L253S |
probably benign |
Het |
| Kmt5b |
T |
C |
19: 3,843,181 (GRCm39) |
Y93H |
probably damaging |
Het |
| Krt73 |
A |
T |
15: 101,710,456 (GRCm39) |
S93T |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,727,306 (GRCm39) |
V917A |
probably benign |
Het |
| Map2k6 |
C |
T |
11: 110,383,409 (GRCm39) |
T106M |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,235,463 (GRCm39) |
S664P |
probably damaging |
Het |
| Nmt1 |
C |
T |
11: 102,943,116 (GRCm39) |
T157I |
probably benign |
Het |
| Nup160 |
T |
C |
2: 90,560,051 (GRCm39) |
S1259P |
probably damaging |
Het |
| Pak1 |
C |
T |
7: 97,560,322 (GRCm39) |
A523V |
probably damaging |
Het |
| Parpbp |
A |
C |
10: 87,979,898 (GRCm39) |
S19R |
probably benign |
Het |
| Pdzd2 |
G |
T |
15: 12,376,382 (GRCm39) |
T1251N |
possibly damaging |
Het |
| Phaf1 |
T |
A |
8: 105,966,341 (GRCm39) |
I105N |
probably damaging |
Het |
| Pitpnm3 |
A |
T |
11: 72,010,965 (GRCm39) |
N22K |
probably benign |
Het |
| Pkn1 |
G |
T |
8: 84,407,854 (GRCm39) |
C418* |
probably null |
Het |
| Pkn2 |
A |
G |
3: 142,509,424 (GRCm39) |
F723L |
probably damaging |
Het |
| Pkp4 |
C |
T |
2: 59,142,073 (GRCm39) |
R459* |
probably null |
Het |
| Prex1 |
A |
C |
2: 166,427,103 (GRCm39) |
S871A |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,002,502 (GRCm39) |
T1531A |
probably benign |
Het |
| Rad1 |
C |
A |
15: 10,493,361 (GRCm39) |
Q263K |
probably benign |
Het |
| Sh2d6 |
C |
A |
6: 72,490,961 (GRCm39) |
G307* |
probably null |
Het |
| Slc52a3 |
T |
A |
2: 151,847,811 (GRCm39) |
N306K |
probably damaging |
Het |
| Spock3 |
A |
T |
8: 63,698,232 (GRCm39) |
R195* |
probably null |
Het |
| Stil |
A |
G |
4: 114,871,359 (GRCm39) |
S310G |
probably benign |
Het |
| Wnt2b |
A |
G |
3: 104,854,408 (GRCm39) |
V350A |
probably benign |
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 |
|
IGL01605: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 |
|
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 |
2014-05-07 |
Incidental Mutation