Incidental Mutation 'IGL02309:Wapl'
ID 287757
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) question?
Stock # IGL02309
Quality Score
Status
Chromosome 14
Chromosomal Location 34673928-34747983 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34744863 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1160 (T1160A)
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: T1166A

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000040232
Gene: ENSMUSG00000041408
AA Change: T1166A

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 probably damaging
Transcript: ENSMUST00000090027
AA Change: T1160A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000087481
Gene: ENSMUSG00000041408
AA Change: T1160A

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 unknown
Transcript: ENSMUST00000151285
AA Change: T395A
SMART Domains Protein: ENSMUSP00000117282
Gene: ENSMUSG00000041408
AA Change: T395A

DomainStartEndE-ValueType
Pfam:WAPL 1 281 1.1e-78 PFAM
coiled coil region 329 351 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000169910
AA Change: T1166A

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130547
Gene: ENSMUSG00000041408
AA Change: T1166A

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
Predicted Effect probably benign
Transcript: ENSMUST00000174559
SMART Domains Protein: ENSMUSP00000133779
Gene: ENSMUSG00000041408

DomainStartEndE-ValueType
Pfam:WAPL 1 55 8.6e-22 PFAM
low complexity region 64 79 N/A INTRINSIC
coiled coil region 119 141 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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A G 9: 44,281,828 (GRCm38) F111S probably benign Het
Afg1l C A 10: 42,454,378 (GRCm38) V98F possibly damaging Het
Agk T A 6: 40,376,276 (GRCm38) D191E possibly damaging Het
Akap5 A G 12: 76,328,855 (GRCm38) K354E possibly damaging Het
Aplp2 A T 9: 31,167,683 (GRCm38) M323K possibly damaging Het
Arhgap23 T C 11: 97,466,001 (GRCm38) probably benign Het
Asl A G 5: 130,019,781 (GRCm38) Y30H probably damaging Het
Asxl3 T A 18: 22,522,453 (GRCm38) H1173Q probably benign Het
Celsr2 C T 3: 108,396,011 (GRCm38) R2472H probably damaging Het
Clip1 T A 5: 123,617,700 (GRCm38) H950L probably damaging Het
Cx3cl1 A T 8: 94,780,032 (GRCm38) T222S probably benign Het
Cyp4a14 T A 4: 115,491,632 (GRCm38) N273Y probably damaging Het
Ddx52 T A 11: 83,948,478 (GRCm38) S214T probably damaging Het
Dennd2d T A 3: 106,494,968 (GRCm38) M318K probably benign Het
Dock3 A T 9: 106,913,152 (GRCm38) D1E probably damaging Het
Farp1 C T 14: 121,243,516 (GRCm38) T443I probably benign Het
Gm2381 C T 7: 42,822,609 (GRCm38) probably benign Het
Gpr87 T A 3: 59,179,554 (GRCm38) I178F possibly damaging Het
Grin2b C T 6: 135,736,472 (GRCm38) E804K probably damaging Het
Gtf2h1 T C 7: 46,816,388 (GRCm38) L421P probably damaging Het
Haghl T G 17: 25,784,664 (GRCm38) H56P probably damaging Het
Heatr3 T C 8: 88,167,072 (GRCm38) L489P probably damaging Het
Ighv6-6 A T 12: 114,434,914 (GRCm38) H77Q probably benign Het
Kdm2b A G 5: 122,947,820 (GRCm38) S243P probably damaging Het
Lamc3 T C 2: 31,914,604 (GRCm38) probably benign Het
Lgr4 T C 2: 110,012,535 (GRCm38) probably benign Het
Lhx3 T C 2: 26,201,373 (GRCm38) Q308R probably benign Het
Lonp2 G A 8: 86,634,863 (GRCm38) E223K probably damaging Het
Lta4h T C 10: 93,474,490 (GRCm38) F407L probably damaging Het
Mndal C T 1: 173,874,455 (GRCm38) G94R probably damaging Het
Nrxn3 A G 12: 89,976,407 (GRCm38) N101S probably damaging Het
Or14c41 T C 7: 86,585,497 (GRCm38) V74A possibly damaging Het
Or51af1 A T 7: 103,491,999 (GRCm38) I293K probably damaging Het
Or8b48 C T 9: 38,581,513 (GRCm38) P79S probably damaging Het
Or8b48 A G 9: 38,581,433 (GRCm38) N52S probably damaging Het
Or8d23 A G 9: 38,931,052 (GRCm38) N294D probably damaging Het
Pknox1 T G 17: 31,590,709 (GRCm38) F96V probably benign Het
Psg25 T G 7: 18,526,424 (GRCm38) Q183P probably damaging Het
Ptgs2 A G 1: 150,105,556 (GRCm38) Y530C probably damaging Het
Sema3e T A 5: 14,224,390 (GRCm38) D218E probably damaging Het
Shank1 G A 7: 44,312,842 (GRCm38) G46R unknown Het
Sidt1 T C 16: 44,254,980 (GRCm38) I672V probably benign Het
Skic3 A G 13: 76,127,047 (GRCm38) T238A possibly damaging Het
Slco1b2 T A 6: 141,672,281 (GRCm38) S486T probably damaging Het
Smchd1 T C 17: 71,443,903 (GRCm38) H340R probably benign Het
Smoc2 C A 17: 14,375,527 (GRCm38) probably benign Het
Snapc1 A G 12: 73,968,027 (GRCm38) Y102C probably damaging Het
Spo11 A G 2: 172,979,951 (GRCm38) R20G probably damaging Het
Tlr1 A T 5: 64,925,947 (GRCm38) L429* probably null Het
Tmem229b-ps T C 10: 53,475,370 (GRCm38) noncoding transcript Het
Trim12c T A 7: 104,344,956 (GRCm38) E230D possibly damaging Het
Ttc17 G T 2: 94,342,661 (GRCm38) N796K probably benign Het
Ttn A G 2: 76,879,099 (GRCm38) probably benign Het
Ublcp1 A T 11: 44,458,328 (GRCm38) probably benign Het
Usf3 C T 16: 44,200,663 (GRCm38) T11M probably benign Het
Vmn2r115 T A 17: 23,345,139 (GRCm38) M95K probably benign Het
Other mutations in Wapl
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL02471:Wapl APN 14 34,691,920 (GRCm38) missense possibly damaging 0.68
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