Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02209:Wapl'

284643

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02209

Quality Score

Status

Chromosome

Chromosomal Location

34673928-34747983 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34677261 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 96 (S96T)

Ref Sequence

ENSEMBL: ENSMUSP00000130547 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048263
AA Change: S96T

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000040232
Gene: ENSMUSG00000041408
AA Change: S96T

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
AA Change: S96T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000087481
Gene: ENSMUSG00000041408
AA Change: S96T

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

possibly damaging
Transcript: ENSMUST00000169910
AA Change: S96T

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000130547
Gene: ENSMUSG00000041408
AA Change: S96T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228874

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	C	T	17: 35,964,009	R82Q	probably damaging	Het
Acmsd	A	G	1: 127,759,755	Y258C	probably damaging	Het
Anapc5	A	G	5: 122,800,613	I366T	possibly damaging	Het
Crkl	C	T	16: 17,469,234	T218I	probably benign	Het
Egf	A	T	3: 129,707,307	I213K	possibly damaging	Het
Fry	A	G	5: 150,437,026	T33A	probably benign	Het
Garnl3	T	C	2: 33,085,930	D93G	probably damaging	Het
Hook3	C	T	8: 26,070,265	D311N	probably damaging	Het
Iglv3	T	C	16: 19,241,670	T4A	probably benign	Het
Kctd17	A	G	15: 78,435,592	N70S	probably damaging	Het
Kmt2d	T	C	15: 98,854,567		probably benign	Het
Lrif1	A	C	3: 106,731,729	L18F	probably damaging	Het
Mfsd1	A	G	3: 67,598,132		probably benign	Het
Msh4	A	G	3: 153,888,862	Y101H	probably damaging	Het
Mycbpap	G	A	11: 94,509,882		probably benign	Het
Myt1	A	G	2: 181,797,234	D183G	probably benign	Het
Nppc	T	C	1: 86,669,665	*127W	probably null	Het
Olfr119	G	A	17: 37,700,992	M107I	probably damaging	Het
Olfr138	A	G	17: 38,275,232	I154V	probably benign	Het
Olfr356	C	T	2: 36,937,505	P129S	probably damaging	Het
Olfr641	T	G	7: 104,040,456	L220R	probably damaging	Het
Olfr918	T	C	9: 38,673,046	K146E	possibly damaging	Het
Pde5a	A	G	3: 122,825,015		probably benign	Het
Pkd1l3	T	C	8: 109,638,664	V1139A	probably damaging	Het
Pwwp2b	G	A	7: 139,255,105	R154Q	probably damaging	Het
Satb2	C	T	1: 56,871,518	V264I	probably damaging	Het
Slc6a2	T	A	8: 92,994,060	F435Y	probably benign	Het
Stmn2	T	C	3: 8,560,261		probably benign	Het
Synj1	A	G	16: 90,987,419	I277T	probably damaging	Het
Trio	C	T	15: 27,744,053	A2598T	probably damaging	Het
Tshz2	G	A	2: 169,884,764	V427M	probably damaging	Het
Utrn	A	G	10: 12,683,295	S1405P	probably damaging	Het
Vmn1r173	G	A	7: 23,703,161	V274I	probably benign	Het
Vmn2r116	T	C	17: 23,388,787	F443S	probably damaging	Het
Vps13d	C	A	4: 145,156,101	R974L	probably damaging	Het
Zfp516	A	G	18: 82,994,497	D1125G	probably benign	Het
Zfp692	C	T	11: 58,313,998	R395*	probably null	Het

Other mutations in Wapl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL01516:Wapl	APN	14	34692081	missense	probably damaging	1.00
IGL02021:Wapl	APN	14	34722336	missense	probably benign
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

Posted On

2015-04-16