Incidental Mutation 'R0278:Wapl'
ID 24490
Institutional Source Beutler Lab
Gene Symbol Wapl
Ensembl Gene ENSMUSG00000041408
Gene Name WAPL cohesin release factor
Synonyms A530089A20Rik, Wapal
MMRRC Submission 038500-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0278 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 34395885-34469940 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34414569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 477 (D477G)
Ref Sequence ENSEMBL: ENSMUSP00000130547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048263] [ENSMUST00000090027] [ENSMUST00000169910]
AlphaFold Q65Z40
Predicted Effect possibly damaging
Transcript: ENSMUST00000048263
AA Change: D477G

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000040232
Gene: ENSMUSG00000041408
AA Change: D477G

DomainStartEndE-ValueType
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: D477G

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000087481
Gene: ENSMUSG00000041408
AA Change: D477G

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000169910
AA Change: D477G

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000130547
Gene: ENSMUSG00000041408
AA Change: D477G

DomainStartEndE-ValueType
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
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.4%
  • 20x: 90.7%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,328,215 (GRCm39) S3429R probably damaging Het
Abca3 A G 17: 24,600,894 (GRCm39) D436G probably benign Het
Acacb C A 5: 114,371,320 (GRCm39) Y1816* probably null Het
Acer3 T C 7: 97,910,804 (GRCm39) Y86C probably damaging Het
Adgre1 A G 17: 57,754,872 (GRCm39) I657V probably benign Het
Akap1 A G 11: 88,736,020 (GRCm39) V214A probably benign Het
Ankrd42 T C 7: 92,280,865 (GRCm39) R22G possibly damaging Het
Apc2 C T 10: 80,148,647 (GRCm39) P1234S possibly damaging Het
Atp13a4 A G 16: 29,273,652 (GRCm39) I441T probably damaging Het
Cenpu G A 8: 47,031,344 (GRCm39) A242T probably damaging Het
Col6a6 A T 9: 105,644,487 (GRCm39) V1267E possibly damaging Het
Crhr2 T C 6: 55,094,516 (GRCm39) T58A probably benign Het
Ddx6 T G 9: 44,542,722 (GRCm39) C385G probably damaging Het
Dnah7a A T 1: 53,543,305 (GRCm39) N2288K probably benign Het
Egfl8 A T 17: 34,833,342 (GRCm39) probably null Het
Elmo2 A T 2: 165,139,287 (GRCm39) I420N probably damaging Het
Elovl4 A G 9: 83,665,248 (GRCm39) F113L probably benign Het
Fancd2 T A 6: 113,525,409 (GRCm39) probably null Het
Fbxl13 A G 5: 21,728,908 (GRCm39) V456A probably benign Het
Fgfr2 A T 7: 129,863,592 (GRCm39) probably null Het
Fkbpl A T 17: 34,864,384 (GRCm39) R51* probably null Het
Fn3krp G A 11: 121,312,406 (GRCm39) V40M probably damaging Het
Fnip1 A G 11: 54,380,169 (GRCm39) probably null Het
Gm15446 A T 5: 110,091,281 (GRCm39) Q511L probably benign Het
Gm7334 A G 17: 51,006,289 (GRCm39) K192E probably damaging Het
H2-Q10 A T 17: 35,784,204 (GRCm39) T282S possibly damaging Het
Hspa9 A G 18: 35,073,963 (GRCm39) V482A possibly damaging Het
Ica1l A T 1: 60,053,155 (GRCm39) S128T probably benign Het
Il7r A T 15: 9,516,423 (GRCm39) I126K probably damaging Het
Kcnj8 T C 6: 142,516,074 (GRCm39) E11G probably benign Het
Klkb1 A C 8: 45,725,446 (GRCm39) F498V probably benign Het
Lama1 A G 17: 68,117,178 (GRCm39) E2491G probably null Het
Lhfpl2 T C 13: 94,310,943 (GRCm39) V71A probably benign Het
Lin9 T C 1: 180,493,488 (GRCm39) I198T probably damaging Het
Lrrc7 T A 3: 157,885,432 (GRCm39) M431L possibly damaging Het
Nmt2 A G 2: 3,326,424 (GRCm39) T519A probably benign Het
Or10w1 C A 19: 13,632,128 (GRCm39) L112I probably damaging Het
Or10w1 T A 19: 13,632,129 (GRCm39) L112H probably damaging Het
Or1d2 T C 11: 74,256,028 (GRCm39) F178L probably damaging Het
Or4a74 G T 2: 89,440,108 (GRCm39) L113M probably damaging Het
Or4a74 A T 2: 89,440,107 (GRCm39) L113Q probably damaging Het
Or5al7 A T 2: 85,992,923 (GRCm39) Y123* probably null Het
Or7h8 G T 9: 20,124,182 (GRCm39) C179F probably damaging Het
Parp4 A G 14: 56,844,980 (GRCm39) R624G probably damaging Het
Pex16 C T 2: 92,211,401 (GRCm39) P325S probably damaging Het
Pik3ca T C 3: 32,493,902 (GRCm39) M288T possibly damaging Het
Pla2g5 C T 4: 138,527,967 (GRCm39) D100N probably benign Het
Prss43 T A 9: 110,656,430 (GRCm39) M39K probably benign Het
Psd4 T C 2: 24,284,450 (GRCm39) S105P probably damaging Het
Ptprz1 T A 6: 23,000,816 (GRCm39) S969T probably benign Het
Rad23b T A 4: 55,383,575 (GRCm39) probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rpl10l A G 12: 66,331,130 (GRCm39) M1T probably null Het
Sec16a A G 2: 26,318,328 (GRCm39) S1588P probably damaging Het
Sh3rf1 A T 8: 61,827,052 (GRCm39) H602L probably damaging Het
Sparcl1 A T 5: 104,236,263 (GRCm39) S497T probably benign Het
Spata13 A G 14: 60,929,537 (GRCm39) Y365C probably benign Het
Trim5 T C 7: 103,928,882 (GRCm39) N20D probably benign Het
Vmn1r201 G T 13: 22,659,194 (GRCm39) W136L probably damaging Het
Vmn2r112 A G 17: 22,821,987 (GRCm39) I222V probably benign Het
Vmn2r56 A T 7: 12,449,644 (GRCm39) V198D probably damaging Het
Zfp202 C A 9: 40,119,778 (GRCm39) H194N probably benign Het
Zfp212 C T 6: 47,903,453 (GRCm39) R13W probably damaging Het
Other mutations in Wapl
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R3122: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'- AGGCAGATATTGCAACCTCCAAGAC -3'
(R):5'- TGCATATAGCCACATGCAGGCAC -3'

Sequencing Primer
(F):5'- TCCAAGACCACTACTAGATTTCG -3'
(R):5'- TGGAATATTTAGGAAAGAGCCTACCC -3'
Posted On 2013-04-16