Incidental Mutation 'R3122:Wapl'
| ID |
264129 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wapl
|
| Ensembl Gene |
ENSMUSG00000041408 |
| Gene Name |
WAPL cohesin release factor |
| Synonyms |
A530089A20Rik, Wapal |
| MMRRC Submission |
040595-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3122 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
34395885-34469940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34451172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 729
(I729M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048263]
[ENSMUST00000090027]
[ENSMUST00000169910]
|
| AlphaFold |
Q65Z40 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048263
AA Change: I735M
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000040232
Gene: ENSMUSG00000041408
AA Change: I735M
| 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: I729M
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000087481
Gene: ENSMUSG00000041408
AA Change: I729M
| 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 |
unknown
Transcript: ENSMUST00000151285
AA Change: I19M
|
| SMART Domains |
Protein: ENSMUSP00000117282
Gene: ENSMUSG00000041408
AA Change: I19M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WAPL
|
1 |
281 |
1.1e-78 |
PFAM |
|
coiled coil region
|
329 |
351 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169910
AA Change: I735M
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130547
Gene: ENSMUSG00000041408
AA Change: I735M
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172658
|
| Meta Mutation Damage Score |
0.6297 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (48/48) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
C |
8: 25,118,248 (GRCm39) |
N8S |
possibly damaging |
Het |
| Ago3 |
A |
G |
4: 126,311,165 (GRCm39) |
I16T |
probably benign |
Het |
| Alms1 |
C |
A |
6: 85,644,945 (GRCm39) |
|
probably benign |
Het |
| Brdt |
A |
G |
5: 107,525,011 (GRCm39) |
T851A |
probably damaging |
Het |
| Capn7 |
A |
T |
14: 31,081,167 (GRCm39) |
I395F |
probably damaging |
Het |
| Ccbe1 |
A |
G |
18: 66,199,900 (GRCm39) |
M274T |
probably benign |
Het |
| Ccdc146 |
T |
C |
5: 21,499,591 (GRCm39) |
R864G |
possibly damaging |
Het |
| Ccdc17 |
G |
T |
4: 116,456,749 (GRCm39) |
|
probably benign |
Het |
| Ccdc85a |
C |
A |
11: 28,533,499 (GRCm39) |
C15F |
unknown |
Het |
| Cpt1c |
A |
G |
7: 44,609,345 (GRCm39) |
Y715H |
probably damaging |
Het |
| Dmwd |
T |
A |
7: 18,814,620 (GRCm39) |
F423L |
probably damaging |
Het |
| Dock3 |
C |
G |
9: 106,788,542 (GRCm39) |
A1598P |
probably damaging |
Het |
| Ext2 |
A |
G |
2: 93,644,170 (GRCm39) |
L37P |
probably damaging |
Het |
| Fam120a |
T |
C |
13: 49,045,562 (GRCm39) |
D758G |
possibly damaging |
Het |
| Foxn4 |
T |
C |
5: 114,396,776 (GRCm39) |
T236A |
probably damaging |
Het |
| Gm9776 |
A |
T |
13: 94,495,194 (GRCm39) |
|
probably benign |
Het |
| Grik1 |
A |
T |
16: 87,803,361 (GRCm39) |
M277K |
probably damaging |
Het |
| H2-T23 |
T |
A |
17: 36,341,855 (GRCm39) |
M248L |
probably benign |
Het |
| Hephl1 |
A |
G |
9: 15,000,265 (GRCm39) |
F329S |
possibly damaging |
Het |
| Kif13a |
G |
A |
13: 46,918,072 (GRCm39) |
|
probably benign |
Het |
| Knl1 |
T |
A |
2: 118,899,425 (GRCm39) |
H375Q |
probably benign |
Het |
| Lox |
A |
G |
18: 52,658,177 (GRCm39) |
F332S |
probably damaging |
Het |
| Ltf |
G |
A |
9: 110,851,968 (GRCm39) |
C135Y |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,006,554 (GRCm39) |
Y347H |
probably damaging |
Het |
| Mboat1 |
T |
C |
13: 30,422,031 (GRCm39) |
Y387H |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Naip1 |
T |
C |
13: 100,545,503 (GRCm39) |
T1342A |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,453,031 (GRCm39) |
D10G |
probably benign |
Het |
| Nudt8 |
A |
G |
19: 4,052,015 (GRCm39) |
R209G |
possibly damaging |
Het |
| Or4c31 |
G |
T |
2: 88,291,853 (GRCm39) |
M75I |
probably damaging |
Het |
| Or56a3 |
T |
C |
7: 104,735,385 (GRCm39) |
V154A |
probably benign |
Het |
| Or8k35 |
A |
T |
2: 86,424,954 (GRCm39) |
Y73N |
possibly damaging |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Phactr1 |
T |
A |
13: 43,213,049 (GRCm39) |
S131T |
possibly damaging |
Het |
| Phactr3 |
A |
G |
2: 177,973,411 (GRCm39) |
I475V |
probably damaging |
Het |
| Pip |
T |
A |
6: 41,828,819 (GRCm39) |
N121K |
probably damaging |
Het |
| Pla2g4d |
T |
C |
2: 120,109,384 (GRCm39) |
R222G |
probably benign |
Het |
| Rbm42 |
A |
G |
7: 30,349,152 (GRCm39) |
|
probably benign |
Het |
| Sowahb |
T |
C |
5: 93,191,261 (GRCm39) |
D486G |
possibly damaging |
Het |
| Svep1 |
C |
T |
4: 58,087,845 (GRCm39) |
V1745I |
possibly damaging |
Het |
| Tnfsf15 |
T |
A |
4: 63,652,522 (GRCm39) |
E96D |
probably benign |
Het |
| Vmn1r217 |
A |
G |
13: 23,298,249 (GRCm39) |
S218P |
probably damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r71 |
T |
G |
7: 85,264,828 (GRCm39) |
Y53* |
probably null |
Het |
| Wrnip1 |
A |
G |
13: 32,986,744 (GRCm39) |
D175G |
probably benign |
Het |
| Zscan2 |
G |
A |
7: 80,513,092 (GRCm39) |
A26T |
probably benign |
Het |
|
| Other mutations in Wapl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00335:Wapl
|
APN |
14 |
34,414,593 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00539:Wapl
|
APN |
14 |
34,416,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00846:Wapl
|
APN |
14 |
34,414,701 (GRCm39) |
splice site |
probably benign |
|
|
IGL01070:Wapl
|
APN |
14 |
34,467,579 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01516:Wapl
|
APN |
14 |
34,414,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02021:Wapl
|
APN |
14 |
34,444,293 (GRCm39) |
missense |
probably benign |
|
|
IGL02209:Wapl
|
APN |
14 |
34,399,218 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02309:Wapl
|
APN |
14 |
34,466,820 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02471:Wapl
|
APN |
14 |
34,413,877 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02965:Wapl
|
APN |
14 |
34,461,181 (GRCm39) |
intron |
probably benign |
|
|
IGL03076:Wapl
|
APN |
14 |
34,414,046 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL03197:Wapl
|
APN |
14 |
34,467,588 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Mcclintock
|
UTSW |
14 |
34,452,619 (GRCm39) |
critical splice donor site |
probably null |
|
|
Tatum
|
UTSW |
14 |
34,451,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0045:Wapl
|
UTSW |
14 |
34,455,751 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0278:Wapl
|
UTSW |
14 |
34,414,569 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0335:Wapl
|
UTSW |
14 |
34,414,281 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1018:Wapl
|
UTSW |
14 |
34,413,863 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1295:Wapl
|
UTSW |
14 |
34,446,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1553:Wapl
|
UTSW |
14 |
34,451,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1868:Wapl
|
UTSW |
14 |
34,414,415 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1909:Wapl
|
UTSW |
14 |
34,413,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2698:Wapl
|
UTSW |
14 |
34,413,734 (GRCm39) |
missense |
probably benign |
|
|
R2990:Wapl
|
UTSW |
14 |
34,458,665 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3121:Wapl
|
UTSW |
14 |
34,451,172 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3147:Wapl
|
UTSW |
14 |
34,447,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3732:Wapl
|
UTSW |
14 |
34,458,721 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3732:Wapl
|
UTSW |
14 |
34,458,721 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3733:Wapl
|
UTSW |
14 |
34,458,721 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3878:Wapl
|
UTSW |
14 |
34,414,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4034:Wapl
|
UTSW |
14 |
34,459,871 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4934:Wapl
|
UTSW |
14 |
34,414,052 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5079:Wapl
|
UTSW |
14 |
34,446,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5104:Wapl
|
UTSW |
14 |
34,414,016 (GRCm39) |
nonsense |
probably null |
|
|
R5113:Wapl
|
UTSW |
14 |
34,446,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5121:Wapl
|
UTSW |
14 |
34,399,119 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5222:Wapl
|
UTSW |
14 |
34,458,642 (GRCm39) |
nonsense |
probably null |
|
|
R5299:Wapl
|
UTSW |
14 |
34,455,765 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5387:Wapl
|
UTSW |
14 |
34,399,252 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5541:Wapl
|
UTSW |
14 |
34,452,619 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5618:Wapl
|
UTSW |
14 |
34,413,863 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5802:Wapl
|
UTSW |
14 |
34,414,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6029:Wapl
|
UTSW |
14 |
34,461,204 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6292:Wapl
|
UTSW |
14 |
34,451,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6482:Wapl
|
UTSW |
14 |
34,414,649 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6487:Wapl
|
UTSW |
14 |
34,414,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6925:Wapl
|
UTSW |
14 |
34,399,320 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6937:Wapl
|
UTSW |
14 |
34,444,311 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7080:Wapl
|
UTSW |
14 |
34,414,313 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7203:Wapl
|
UTSW |
14 |
34,458,648 (GRCm39) |
missense |
probably benign |
|
|
R7944:Wapl
|
UTSW |
14 |
34,399,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7945:Wapl
|
UTSW |
14 |
34,399,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7969:Wapl
|
UTSW |
14 |
34,452,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8038:Wapl
|
UTSW |
14 |
34,413,639 (GRCm39) |
missense |
probably benign |
|
|
R8053:Wapl
|
UTSW |
14 |
34,414,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8688:Wapl
|
UTSW |
14 |
34,414,549 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8864:Wapl
|
UTSW |
14 |
34,414,159 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8988:Wapl
|
UTSW |
14 |
34,451,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9072:Wapl
|
UTSW |
14 |
34,399,417 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9197:Wapl
|
UTSW |
14 |
34,444,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9259:Wapl
|
UTSW |
14 |
34,463,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9545:Wapl
|
UTSW |
14 |
34,399,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9613:Wapl
|
UTSW |
14 |
34,453,520 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9624:Wapl
|
UTSW |
14 |
34,414,063 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1177:Wapl
|
UTSW |
14 |
34,467,647 (GRCm39) |
makesense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTTCAAAGAAATGGGTAGCG -3'
(R):5'- TGCTTGTTGTGCACAGTTTCAC -3'
Sequencing Primer
(F):5'- CAAATAGCTATGTTTCCCTAGGC -3'
(R):5'- GCACAGTTTCACAGAGTCTTCGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation