Incidental Mutation 'IGL02471:Wapl'
| ID |
294747 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wapl
|
| Ensembl Gene |
ENSMUSG00000041408 |
| Gene Name |
WAPL cohesin release factor |
| Synonyms |
A530089A20Rik, Wapal |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02471
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
34673928-34747983 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34691920 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 246
(N246K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048263]
[ENSMUST00000090027]
[ENSMUST00000169910]
|
| AlphaFold |
Q65Z40 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048263
AA Change: N246K
PolyPhen 2
Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000040232
Gene: ENSMUSG00000041408
AA Change: N246K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
436 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
493 |
513 |
N/A |
INTRINSIC |
|
Pfam:WAPL
|
645 |
1009 |
6.5e-153 |
PFAM |
|
low complexity region
|
1018 |
1033 |
N/A |
INTRINSIC |
|
low complexity region
|
1101 |
1112 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090027
AA Change: N246K
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000087481
Gene: ENSMUSG00000041408
AA Change: N246K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
436 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
493 |
513 |
N/A |
INTRINSIC |
|
Pfam:WAPL
|
639 |
1003 |
2.6e-153 |
PFAM |
|
low complexity region
|
1012 |
1027 |
N/A |
INTRINSIC |
|
low complexity region
|
1095 |
1106 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000111895
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169910
AA Change: N246K
PolyPhen 2
Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000130547
Gene: ENSMUSG00000041408
AA Change: N246K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
436 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
493 |
513 |
N/A |
INTRINSIC |
|
Pfam:WAPL
|
647 |
1008 |
3.5e-120 |
PFAM |
|
low complexity region
|
1018 |
1033 |
N/A |
INTRINSIC |
|
low complexity region
|
1101 |
1112 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Studies suggest that the protein encoded by this gene is important for the release of cohesin from chromatin. This gene product is thought to be essential for development, and reduced expression of this gene in cells causes defects in chromatin structure. High levels of expression of the human ortholog of this gene are observed in cervical cancers, and expression of the human ortholog of this gene in mice results in tumor formation. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for a targeted allele exhibit prenatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
T |
1: 71,258,198 (GRCm38) |
H2378N |
probably benign |
Het |
| Btaf1 |
C |
A |
19: 37,000,192 (GRCm38) |
A1470E |
probably damaging |
Het |
| Ccdc110 |
A |
G |
8: 45,941,756 (GRCm38) |
D228G |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,798,729 (GRCm38) |
M200I |
probably benign |
Het |
| Cldn18 |
T |
C |
9: 99,696,075 (GRCm38) |
D205G |
probably benign |
Het |
| Clip2 |
T |
C |
5: 134,518,022 (GRCm38) |
T231A |
probably benign |
Het |
| Cltc |
A |
G |
11: 86,718,034 (GRCm38) |
V723A |
probably damaging |
Het |
| Cpa3 |
C |
T |
3: 20,228,807 (GRCm38) |
|
probably null |
Het |
| Cyfip2 |
T |
G |
11: 46,200,803 (GRCm38) |
T1097P |
possibly damaging |
Het |
| Dnah9 |
T |
A |
11: 65,947,618 (GRCm38) |
R667* |
probably null |
Het |
| Dock10 |
T |
C |
1: 80,515,622 (GRCm38) |
E1878G |
probably damaging |
Het |
| Ermap |
G |
A |
4: 119,179,963 (GRCm38) |
H353Y |
probably damaging |
Het |
| Etfa |
A |
T |
9: 55,486,700 (GRCm38) |
|
probably null |
Het |
| F5 |
C |
T |
1: 164,174,291 (GRCm38) |
P188S |
probably damaging |
Het |
| Foxq1 |
G |
A |
13: 31,559,343 (GRCm38) |
E143K |
possibly damaging |
Het |
| Gsr |
C |
T |
8: 33,682,584 (GRCm38) |
|
probably benign |
Het |
| Hebp1 |
T |
A |
6: 135,155,276 (GRCm38) |
Y31F |
probably benign |
Het |
| Ighv1-14 |
T |
C |
12: 114,646,837 (GRCm38) |
|
noncoding transcript |
Het |
| Lamb1 |
T |
A |
12: 31,320,908 (GRCm38) |
D1319E |
probably damaging |
Het |
| Lrp5 |
A |
T |
19: 3,602,408 (GRCm38) |
V1154E |
probably benign |
Het |
| Manba |
G |
A |
3: 135,507,008 (GRCm38) |
|
probably benign |
Het |
| Mknk2 |
A |
T |
10: 80,668,121 (GRCm38) |
F319I |
probably damaging |
Het |
| Mup6 |
A |
T |
4: 60,003,971 (GRCm38) |
|
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,323,314 (GRCm38) |
T784A |
probably benign |
Het |
| Nt5dc1 |
T |
C |
10: 34,403,725 (GRCm38) |
E107G |
probably benign |
Het |
| Or11h6 |
A |
T |
14: 50,642,757 (GRCm38) |
I159F |
probably benign |
Het |
| Or56b34 |
T |
A |
7: 105,289,045 (GRCm38) |
F317L |
probably benign |
Het |
| Or9q2 |
G |
A |
19: 13,795,225 (GRCm38) |
P129S |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,711,233 (GRCm38) |
E41G |
probably damaging |
Het |
| Ptk2 |
T |
C |
15: 73,298,187 (GRCm38) |
D309G |
probably benign |
Het |
| Rab11fip5 |
A |
G |
6: 85,348,225 (GRCm38) |
S367P |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,240,051 (GRCm38) |
N224K |
probably benign |
Het |
| Rchy1 |
A |
T |
5: 91,957,546 (GRCm38) |
C65* |
probably null |
Het |
| Rgs18 |
T |
C |
1: 144,774,621 (GRCm38) |
D56G |
probably benign |
Het |
| Rtraf |
A |
C |
14: 19,812,228 (GRCm38) |
L197R |
probably damaging |
Het |
| Slc44a5 |
G |
T |
3: 154,256,576 (GRCm38) |
W382L |
probably damaging |
Het |
| Snx24 |
C |
T |
18: 53,385,169 (GRCm38) |
|
probably benign |
Het |
| Sphkap |
T |
C |
1: 83,276,176 (GRCm38) |
D1284G |
probably damaging |
Het |
| Tmem54 |
A |
G |
4: 129,108,318 (GRCm38) |
M53V |
probably benign |
Het |
| Trip6 |
G |
A |
5: 137,310,356 (GRCm38) |
P414S |
probably benign |
Het |
| Vmn1r38 |
A |
G |
6: 66,776,767 (GRCm38) |
Y122H |
probably benign |
Het |
| Zfp12 |
G |
A |
5: 143,244,796 (GRCm38) |
G293R |
probably damaging |
Het |
| Zfp13 |
C |
T |
17: 23,576,098 (GRCm38) |
A493T |
probably benign |
Het |
| Zfp446 |
T |
G |
7: 12,982,254 (GRCm38) |
V209G |
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,914,617 (GRCm38) |
G997R |
probably damaging |
Het |
|
| Other mutations in Wapl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00335:Wapl
|
APN |
14 |
34,692,636 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00539:Wapl
|
APN |
14 |
34,695,008 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00846:Wapl
|
APN |
14 |
34,692,744 (GRCm38) |
splice site |
probably benign |
|
|
IGL01070:Wapl
|
APN |
14 |
34,745,622 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01516:Wapl
|
APN |
14 |
34,692,081 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02021:Wapl
|
APN |
14 |
34,722,336 (GRCm38) |
missense |
probably benign |
|
|
IGL02209:Wapl
|
APN |
14 |
34,677,261 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
IGL02309:Wapl
|
APN |
14 |
34,744,863 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02965:Wapl
|
APN |
14 |
34,739,224 (GRCm38) |
intron |
probably benign |
|
|
IGL03076:Wapl
|
APN |
14 |
34,692,089 (GRCm38) |
missense |
probably benign |
0.26 |
|
IGL03197:Wapl
|
APN |
14 |
34,745,631 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
Mcclintock
|
UTSW |
14 |
34,730,662 (GRCm38) |
critical splice donor site |
probably null |
|
|
Tatum
|
UTSW |
14 |
34,729,195 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0045:Wapl
|
UTSW |
14 |
34,733,794 (GRCm38) |
missense |
probably benign |
0.18 |
|
R0278:Wapl
|
UTSW |
14 |
34,692,612 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R0335:Wapl
|
UTSW |
14 |
34,692,324 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1018:Wapl
|
UTSW |
14 |
34,691,906 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1295:Wapl
|
UTSW |
14 |
34,724,769 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1553:Wapl
|
UTSW |
14 |
34,729,190 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1868:Wapl
|
UTSW |
14 |
34,692,458 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1909:Wapl
|
UTSW |
14 |
34,691,912 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2698:Wapl
|
UTSW |
14 |
34,691,777 (GRCm38) |
missense |
probably benign |
|
|
R2990:Wapl
|
UTSW |
14 |
34,736,708 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3121:Wapl
|
UTSW |
14 |
34,729,215 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R3122:Wapl
|
UTSW |
14 |
34,729,215 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R3147:Wapl
|
UTSW |
14 |
34,725,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3732:Wapl
|
UTSW |
14 |
34,736,764 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3732:Wapl
|
UTSW |
14 |
34,736,764 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3733:Wapl
|
UTSW |
14 |
34,736,764 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3878:Wapl
|
UTSW |
14 |
34,692,147 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4034:Wapl
|
UTSW |
14 |
34,737,914 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4934:Wapl
|
UTSW |
14 |
34,692,095 (GRCm38) |
missense |
probably benign |
0.11 |
|
R5079:Wapl
|
UTSW |
14 |
34,724,757 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5104:Wapl
|
UTSW |
14 |
34,692,059 (GRCm38) |
nonsense |
probably null |
|
|
R5113:Wapl
|
UTSW |
14 |
34,724,754 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5121:Wapl
|
UTSW |
14 |
34,677,162 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5222:Wapl
|
UTSW |
14 |
34,736,685 (GRCm38) |
nonsense |
probably null |
|
|
R5299:Wapl
|
UTSW |
14 |
34,733,808 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5387:Wapl
|
UTSW |
14 |
34,677,295 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5541:Wapl
|
UTSW |
14 |
34,730,662 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5618:Wapl
|
UTSW |
14 |
34,691,906 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5802:Wapl
|
UTSW |
14 |
34,692,320 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6029:Wapl
|
UTSW |
14 |
34,739,247 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6292:Wapl
|
UTSW |
14 |
34,729,195 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6482:Wapl
|
UTSW |
14 |
34,692,692 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6487:Wapl
|
UTSW |
14 |
34,692,292 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6925:Wapl
|
UTSW |
14 |
34,677,363 (GRCm38) |
missense |
probably benign |
0.31 |
|
R6937:Wapl
|
UTSW |
14 |
34,722,354 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7080:Wapl
|
UTSW |
14 |
34,692,356 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7203:Wapl
|
UTSW |
14 |
34,736,691 (GRCm38) |
missense |
probably benign |
|
|
R7944:Wapl
|
UTSW |
14 |
34,677,148 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7945:Wapl
|
UTSW |
14 |
34,677,148 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7969:Wapl
|
UTSW |
14 |
34,730,647 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8038:Wapl
|
UTSW |
14 |
34,691,682 (GRCm38) |
missense |
probably benign |
|
|
R8053:Wapl
|
UTSW |
14 |
34,692,321 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8688:Wapl
|
UTSW |
14 |
34,692,592 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8864:Wapl
|
UTSW |
14 |
34,692,202 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8988:Wapl
|
UTSW |
14 |
34,729,182 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9072:Wapl
|
UTSW |
14 |
34,677,460 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R9197:Wapl
|
UTSW |
14 |
34,722,287 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9259:Wapl
|
UTSW |
14 |
34,741,095 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9545:Wapl
|
UTSW |
14 |
34,677,093 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9613:Wapl
|
UTSW |
14 |
34,731,563 (GRCm38) |
missense |
probably benign |
0.29 |
|
R9624:Wapl
|
UTSW |
14 |
34,692,106 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
Z1177:Wapl
|
UTSW |
14 |
34,745,690 (GRCm38) |
makesense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation