Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00846:Wapl'

14827

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 #

IGL00846

Quality Score

Status

Chromosome

Chromosomal Location

34395885-34469940 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 34414701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048263] [ENSMUST00000090027] [ENSMUST00000169910]

AlphaFold

Q65Z40

Predicted Effect

probably benign
Transcript: ENSMUST00000048263

SMART Domains

Protein: ENSMUSP00000040232
Gene: ENSMUSG00000041408

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

probably benign
Transcript: ENSMUST00000090027

SMART Domains

Protein: ENSMUSP00000087481
Gene: ENSMUSG00000041408

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

probably benign
Transcript: ENSMUST00000169910

SMART Domains

Protein: ENSMUSP00000130547
Gene: ENSMUSG00000041408

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn2l	T	C	7: 126,098,350 (GRCm39)	T181A	probably damaging	Het
Caskin1	T	C	17: 24,718,323 (GRCm39)		probably null	Het
Cass4	A	C	2: 172,271,643 (GRCm39)		probably benign	Het
Cdh26	A	T	2: 178,123,417 (GRCm39)	Y672F	possibly damaging	Het
Cep290	T	A	10: 100,376,195 (GRCm39)		probably benign	Het
Cntnap2	T	C	6: 47,169,972 (GRCm39)	L1146P	probably benign	Het
Cntnap5b	T	G	1: 100,091,948 (GRCm39)	C230G	probably damaging	Het
Ctnnd1	C	T	2: 84,452,354 (GRCm39)		probably null	Het
Cux1	A	G	5: 136,355,650 (GRCm39)	I324T	probably damaging	Het
Dnajb4	T	C	3: 151,899,118 (GRCm39)	N36S	probably damaging	Het
Fancc	T	A	13: 63,488,270 (GRCm39)	T237S	possibly damaging	Het
Fip1l1	A	G	5: 74,747,726 (GRCm39)		probably benign	Het
Hemgn	G	T	4: 46,396,171 (GRCm39)	T355K	possibly damaging	Het
Hivep1	T	A	13: 42,321,092 (GRCm39)	L42*	probably null	Het
Hps3	A	G	3: 20,079,956 (GRCm39)	W234R	probably benign	Het
Kit	A	T	5: 75,801,471 (GRCm39)	N586I	probably damaging	Het
Mettl14	T	A	3: 123,165,012 (GRCm39)	K109N	probably damaging	Het
Mmab	A	T	5: 114,571,378 (GRCm39)	M166K	probably benign	Het
Naprt	T	A	15: 75,763,637 (GRCm39)	Y395F	probably benign	Het
Nostrin	C	T	2: 69,015,899 (GRCm39)		probably benign	Het
Pgap1	G	T	1: 54,531,180 (GRCm39)		probably benign	Het
Plpp5	A	T	8: 26,210,585 (GRCm39)	I59F	probably damaging	Het
Prrc2b	T	C	2: 32,089,109 (GRCm39)		probably benign	Het
Scn4a	A	T	11: 106,218,944 (GRCm39)	V958D	probably benign	Het
Serpinb3b	T	A	1: 107,083,579 (GRCm39)	N200I	probably damaging	Het
Slc22a15	T	A	3: 101,768,136 (GRCm39)	Q512L	probably benign	Het
Tmf1	A	T	6: 97,150,277 (GRCm39)	Y477N	possibly damaging	Het
Trim10	T	A	17: 37,182,584 (GRCm39)	L150H	probably damaging	Het
Ttc41	A	G	10: 86,572,797 (GRCm39)	E723G	possibly damaging	Het
Usp25	A	G	16: 76,859,293 (GRCm39)	S264G	probably damaging	Het
Vopp1	A	G	6: 57,731,465 (GRCm39)		probably benign	Het
Wbp1	A	G	6: 83,097,022 (GRCm39)	F93S	probably damaging	Het
Wt1	G	T	2: 104,997,302 (GRCm39)	R413L	probably damaging	Het
Zfp345	C	T	2: 150,314,538 (GRCm39)	G333D	possibly damaging	Het
Zmynd11	C	A	13: 9,770,808 (GRCm39)		probably null	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
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
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

Posted On

2012-12-06