Incidental Mutation 'IGL01516:Wapl'
ID90403
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wapl
Ensembl Gene ENSMUSG00000041408
Gene NameWAPL cohesin release factor
SynonymsA530089A20Rik, Wapal
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01516
Quality Score
Status
Chromosome14
Chromosomal Location34673928-34747983 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 34692081 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 300 (N300S)
Ref Sequence ENSEMBL: ENSMUSP00000130547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048263] [ENSMUST00000090027] [ENSMUST00000169910]
Predicted Effect probably damaging
Transcript: ENSMUST00000048263
AA Change: N300S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040232
Gene: ENSMUSG00000041408
AA Change: N300S

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: N300S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000087481
Gene: ENSMUSG00000041408
AA Change: N300S

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 probably damaging
Transcript: ENSMUST00000169910
AA Change: N300S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130547
Gene: ENSMUSG00000041408
AA Change: N300S

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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik A G 13: 59,690,734 S95P probably benign Het
Abca6 T A 11: 110,218,217 H709L possibly damaging Het
BC051142 A G 17: 34,449,260 D168G possibly damaging Het
Bpifb1 A G 2: 154,218,252 Y455C probably benign Het
Clk1 G A 1: 58,414,404 T341I probably damaging Het
Corin A T 5: 72,454,487 Y77* probably null Het
Cps1 C T 1: 67,230,284 R1481C probably damaging Het
Cspg5 A G 9: 110,246,693 K166E probably benign Het
Dcxr A G 11: 120,725,758 probably null Het
Epha5 C A 5: 84,386,276 L65F probably damaging Het
Erbb4 T A 1: 68,328,245 K438* probably null Het
Gldc A T 19: 30,099,032 C1005S probably damaging Het
Hs3st5 C T 10: 36,833,051 T194I probably damaging Het
Hspa12a T A 19: 58,827,676 D45V probably benign Het
Il1rn C T 2: 24,349,539 T130I probably damaging Het
Klk1b22 G T 7: 44,116,308 C196F probably damaging Het
Lamp1 C T 8: 13,173,863 H332Y probably damaging Het
Limd2 T C 11: 106,159,044 T40A probably benign Het
Lztr1 G A 16: 17,522,391 probably null Het
Mbd4 T C 6: 115,849,530 T167A probably damaging Het
Mitf T A 6: 98,010,390 probably null Het
Mlph A G 1: 90,939,390 D378G probably damaging Het
Mrgprb5 A T 7: 48,168,384 L201Q probably damaging Het
Myo5b A T 18: 74,627,195 I261F probably damaging Het
Olfr1413 A T 1: 92,573,443 I91F probably benign Het
Olfr918 C T 9: 38,672,863 V207I probably benign Het
Paics T A 5: 76,956,731 L68I probably damaging Het
Pramef20 A G 4: 144,377,767 V56A probably damaging Het
Prkca C T 11: 107,961,602 V102M probably null Het
Ptpn21 G A 12: 98,715,189 T62I probably damaging Het
Ptpre A T 7: 135,664,999 E212V probably damaging Het
Rufy2 A C 10: 63,011,433 K539Q possibly damaging Het
Serpinb9d T A 13: 33,202,671 probably null Het
Smarcd1 T C 15: 99,712,213 F442L probably benign Het
Tas2r115 A G 6: 132,737,613 V125A probably damaging Het
Tmem154 C T 3: 84,684,590 H120Y probably benign Het
Tnrc6b A G 15: 80,902,622 K1321E possibly damaging Het
Trmt13 A G 3: 116,589,810 probably benign Het
Vmn1r19 T C 6: 57,404,872 F137L probably benign Het
Vmn1r202 T A 13: 22,501,462 T262S possibly damaging Het
Vmn2r57 A G 7: 41,399,946 V793A probably damaging Het
Xpot T A 10: 121,590,222 probably null Het
Zfp784 G A 7: 5,036,037 probably benign Het
Zfyve26 G T 12: 79,287,851 P131Q probably benign Het
Other mutations in Wapl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:Wapl APN 14 34692636 missense probably benign 0.00
IGL00539:Wapl APN 14 34695008 missense probably damaging 1.00
IGL00846:Wapl APN 14 34692744 splice site probably benign
IGL01070:Wapl APN 14 34745622 unclassified probably benign
IGL02021:Wapl APN 14 34722336 missense probably benign
IGL02209:Wapl APN 14 34677261 missense possibly damaging 0.46
IGL02309:Wapl APN 14 34744863 missense probably damaging 0.98
IGL02471:Wapl APN 14 34691920 missense possibly damaging 0.68
IGL02965:Wapl APN 14 34739224 intron probably benign
IGL03076:Wapl APN 14 34692089 missense probably benign 0.26
IGL03197:Wapl APN 14 34745631 missense possibly damaging 0.77
Mcclintock UTSW 14 34730662 critical splice donor site probably null
R0045:Wapl UTSW 14 34733794 missense probably benign 0.18
R0278:Wapl UTSW 14 34692612 missense possibly damaging 0.68
R0335:Wapl UTSW 14 34692324 missense probably damaging 0.99
R1018:Wapl UTSW 14 34691906 missense possibly damaging 0.91
R1295:Wapl UTSW 14 34724769 missense probably damaging 1.00
R1553:Wapl UTSW 14 34729190 missense probably damaging 1.00
R1868:Wapl UTSW 14 34692458 missense probably benign 0.00
R1909:Wapl UTSW 14 34691912 missense probably damaging 1.00
R2698:Wapl UTSW 14 34691777 missense probably benign
R2990:Wapl UTSW 14 34736708 missense probably damaging 0.98
R3121:Wapl UTSW 14 34729215 missense possibly damaging 0.93
R3122:Wapl UTSW 14 34729215 missense possibly damaging 0.93
R3147:Wapl UTSW 14 34725149 missense probably damaging 1.00
R3732:Wapl UTSW 14 34736764 missense probably damaging 0.99
R3732:Wapl UTSW 14 34736764 missense probably damaging 0.99
R3733:Wapl UTSW 14 34736764 missense probably damaging 0.99
R3878:Wapl UTSW 14 34692147 missense probably damaging 1.00
R4034:Wapl UTSW 14 34737914 missense possibly damaging 0.92
R4934:Wapl UTSW 14 34692095 missense probably benign 0.11
R5079:Wapl UTSW 14 34724757 missense probably damaging 1.00
R5104:Wapl UTSW 14 34692059 nonsense probably null
R5113:Wapl UTSW 14 34724754 missense probably damaging 1.00
R5121:Wapl UTSW 14 34677162 missense probably benign 0.01
R5222:Wapl UTSW 14 34736685 nonsense probably null
R5299:Wapl UTSW 14 34733808 critical splice donor site probably null
R5387:Wapl UTSW 14 34677295 missense probably benign 0.00
R5541:Wapl UTSW 14 34730662 critical splice donor site probably null
R5618:Wapl UTSW 14 34691906 missense possibly damaging 0.91
R5802:Wapl UTSW 14 34692320 missense probably damaging 1.00
R6029:Wapl UTSW 14 34739247 missense possibly damaging 0.94
R6292:Wapl UTSW 14 34729195 missense probably damaging 1.00
R6482:Wapl UTSW 14 34692692 missense probably benign 0.01
R6487:Wapl UTSW 14 34692292 missense probably damaging 1.00
R6925:Wapl UTSW 14 34677363 missense probably benign 0.31
R6937:Wapl UTSW 14 34722354 missense probably benign 0.01
R7080:Wapl UTSW 14 34692356 missense probably benign 0.03
R7203:Wapl UTSW 14 34736691 missense probably benign
R8038:Wapl UTSW 14 34691682 missense probably benign
R8053:Wapl UTSW 14 34692321 missense probably damaging 1.00
Z1177:Wapl UTSW 14 34745690 makesense probably null
Posted On2013-12-09