Mutagenetix > Incidental Mutation

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

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 (GRCm38)

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]

AlphaFold

Q65Z40

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 (GRCm38)	R82Q	probably damaging	Het
Acmsd	A	G	1: 127,759,755 (GRCm38)	Y258C	probably damaging	Het
Anapc5	A	G	5: 122,800,613 (GRCm38)	I366T	possibly damaging	Het
Crkl	C	T	16: 17,469,234 (GRCm38)	T218I	probably benign	Het
Egf	A	T	3: 129,707,307 (GRCm38)	I213K	possibly damaging	Het
Fry	A	G	5: 150,437,026 (GRCm38)	T33A	probably benign	Het
Garnl3	T	C	2: 33,085,930 (GRCm38)	D93G	probably damaging	Het
Hook3	C	T	8: 26,070,265 (GRCm38)	D311N	probably damaging	Het
Iglv3	T	C	16: 19,241,670 (GRCm38)	T4A	probably benign	Het
Kctd17	A	G	15: 78,435,592 (GRCm38)	N70S	probably damaging	Het
Kmt2d	T	C	15: 98,854,567 (GRCm38)		probably benign	Het
Lrif1	A	C	3: 106,731,729 (GRCm38)	L18F	probably damaging	Het
Mfsd1	A	G	3: 67,598,132 (GRCm38)		probably benign	Het
Msh4	A	G	3: 153,888,862 (GRCm38)	Y101H	probably damaging	Het
Mycbpap	G	A	11: 94,509,882 (GRCm38)		probably benign	Het
Myt1	A	G	2: 181,797,234 (GRCm38)	D183G	probably benign	Het
Nppc	T	C	1: 86,669,665 (GRCm38)	*127W	probably null	Het
Or10al3	G	A	17: 37,700,992 (GRCm38)	M107I	probably damaging	Het
Or1ak2	C	T	2: 36,937,505 (GRCm38)	P129S	probably damaging	Het
Or2n1e	A	G	17: 38,275,232 (GRCm38)	I154V	probably benign	Het
Or51i2	T	G	7: 104,040,456 (GRCm38)	L220R	probably damaging	Het
Or8b3b	T	C	9: 38,673,046 (GRCm38)	K146E	possibly damaging	Het
Pde5a	A	G	3: 122,825,015 (GRCm38)		probably benign	Het
Pkd1l3	T	C	8: 109,638,664 (GRCm38)	V1139A	probably damaging	Het
Pwwp2b	G	A	7: 139,255,105 (GRCm38)	R154Q	probably damaging	Het
Satb2	C	T	1: 56,871,518 (GRCm38)	V264I	probably damaging	Het
Slc6a2	T	A	8: 92,994,060 (GRCm38)	F435Y	probably benign	Het
Stmn2	T	C	3: 8,560,261 (GRCm38)		probably benign	Het
Synj1	A	G	16: 90,987,419 (GRCm38)	I277T	probably damaging	Het
Trio	C	T	15: 27,744,053 (GRCm38)	A2598T	probably damaging	Het
Tshz2	G	A	2: 169,884,764 (GRCm38)	V427M	probably damaging	Het
Utrn	A	G	10: 12,683,295 (GRCm38)	S1405P	probably damaging	Het
Vmn1r173	G	A	7: 23,703,161 (GRCm38)	V274I	probably benign	Het
Vmn2r116	T	C	17: 23,388,787 (GRCm38)	F443S	probably damaging	Het
Vps13d	C	A	4: 145,156,101 (GRCm38)	R974L	probably damaging	Het
Zfp516	A	G	18: 82,994,497 (GRCm38)	D1125G	probably benign	Het
Zfp692	C	T	11: 58,313,998 (GRCm38)	R395*	probably null	Het

Other mutations in Wapl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02309:Wapl	APN	14	34,744,863 (GRCm38)	missense	probably damaging	0.98
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