Incidental Mutation 'IGL00846:Wapl'
ID14827
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 #IGL00846
Quality Score
Status
Chromosome14
Chromosomal Location34673928-34747983 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to T at 34692744 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048263] [ENSMUST00000090027] [ENSMUST00000169910]
Predicted Effect probably benign
Transcript: ENSMUST00000048263
SMART Domains Protein: ENSMUSP00000040232
Gene: ENSMUSG00000041408

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 benign
Transcript: ENSMUST00000090027
SMART Domains Protein: ENSMUSP00000087481
Gene: ENSMUSG00000041408

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 benign
Transcript: ENSMUST00000169910
SMART Domains Protein: ENSMUSP00000130547
Gene: ENSMUSG00000041408

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn2l T C 7: 126,499,178 T181A probably damaging Het
Caskin1 T C 17: 24,499,349 probably null Het
Cass4 A C 2: 172,429,723 probably benign Het
Cdh26 A T 2: 178,481,624 Y672F possibly damaging Het
Cep290 T A 10: 100,540,333 probably benign Het
Cntnap2 T C 6: 47,193,038 L1146P probably benign Het
Cntnap5b T G 1: 100,164,223 C230G probably damaging Het
Ctnnd1 C T 2: 84,622,010 probably null Het
Cux1 A G 5: 136,326,796 I324T probably damaging Het
Dnajb4 T C 3: 152,193,481 N36S probably damaging Het
Fancc T A 13: 63,340,456 T237S possibly damaging Het
Fip1l1 A G 5: 74,587,065 probably benign Het
Hemgn G T 4: 46,396,171 T355K possibly damaging Het
Hivep1 T A 13: 42,167,616 L42* probably null Het
Hps3 A G 3: 20,025,792 W234R probably benign Het
Kit A T 5: 75,640,811 N586I probably damaging Het
Mettl14 T A 3: 123,371,363 K109N probably damaging Het
Mmab A T 5: 114,433,317 M166K probably benign Het
Naprt T A 15: 75,891,788 Y395F probably benign Het
Nostrin C T 2: 69,185,555 probably benign Het
Pgap1 G T 1: 54,492,021 probably benign Het
Plpp5 A T 8: 25,720,558 I59F probably damaging Het
Prrc2b T C 2: 32,199,097 probably benign Het
Scn4a A T 11: 106,328,118 V958D probably benign Het
Serpinb3b T A 1: 107,155,849 N200I probably damaging Het
Slc22a15 T A 3: 101,860,820 Q512L probably benign Het
Tmf1 A T 6: 97,173,316 Y477N possibly damaging Het
Trim10 T A 17: 36,871,692 L150H probably damaging Het
Ttc41 A G 10: 86,736,933 E723G possibly damaging Het
Usp25 A G 16: 77,062,405 S264G probably damaging Het
Vopp1 A G 6: 57,754,480 probably benign Het
Wbp1 A G 6: 83,120,041 F93S probably damaging Het
Wt1 G T 2: 105,166,957 R413L probably damaging Het
Zfp345 C T 2: 150,472,618 G333D possibly damaging Het
Zmynd11 C A 13: 9,720,772 probably null 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
IGL01070:Wapl APN 14 34745622 unclassified probably benign
IGL01516:Wapl APN 14 34692081 missense probably damaging 1.00
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
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
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
Posted On2012-12-06