Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00539:Wapl'

5890

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 #

IGL00539

Quality Score

Status

Chromosome

Chromosomal Location

34395885-34469940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34416965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 525 (D525G)

Ref Sequence

ENSEMBL: ENSMUSP00000130547 (fasta)

Gene Model

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

AlphaFold

Q65Z40

Predicted Effect

probably damaging
Transcript: ENSMUST00000048263
AA Change: D525G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040232
Gene: ENSMUSG00000041408
AA Change: D525G

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 damaging
Transcript: ENSMUST00000090027
AA Change: D519G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000087481
Gene: ENSMUSG00000041408
AA Change: D519G

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 damaging
Transcript: ENSMUST00000169910
AA Change: D525G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130547
Gene: ENSMUSG00000041408
AA Change: D525G

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	C	A	19: 8,985,272 (GRCm39)	D2185E	possibly damaging	Het
Camk2b	A	G	11: 5,922,310 (GRCm39)	S560P	probably damaging	Het
Cdh13	C	A	8: 120,039,245 (GRCm39)	N562K	possibly damaging	Het
Cdhr4	A	G	9: 107,876,744 (GRCm39)	Y771C	probably damaging	Het
Ermap	A	G	4: 119,041,114 (GRCm39)	S299P	probably damaging	Het
Fgd3	A	G	13: 49,429,119 (GRCm39)		probably benign	Het
Fpr-rs4	T	A	17: 18,242,188 (GRCm39)	L65Q	probably damaging	Het
Hsph1	C	T	5: 149,542,254 (GRCm39)	R723H	possibly damaging	Het
Iqcb1	A	G	16: 36,678,873 (GRCm39)	K396E	probably damaging	Het
Kif21a	T	C	15: 90,821,504 (GRCm39)	T1424A	probably damaging	Het
Mpdz	T	C	4: 81,279,588 (GRCm39)	S700G	possibly damaging	Het
Mta3	G	A	17: 84,070,412 (GRCm39)	R39Q	probably benign	Het
Muc4	A	T	16: 32,569,728 (GRCm39)	T263S	possibly damaging	Het
Ncan	G	A	8: 70,567,921 (GRCm39)	P64S	probably benign	Het
Pisd	T	C	5: 32,895,756 (GRCm39)	I441V	probably benign	Het
Pla2g4f	T	C	2: 120,133,219 (GRCm39)	H660R	possibly damaging	Het
Polq	A	G	16: 36,880,931 (GRCm39)	T753A	probably damaging	Het
Ptchd4	C	T	17: 42,627,817 (GRCm39)	Q93*	probably null	Het
Sfpq	T	C	4: 126,917,481 (GRCm39)	V437A	possibly damaging	Het
Slc18b1	G	A	10: 23,700,659 (GRCm39)		probably null	Het
Taf1c	C	T	8: 120,328,067 (GRCm39)	V277I	possibly damaging	Het
Tcf20	T	A	15: 82,736,957 (GRCm39)	Q1498L	probably benign	Het
Tet1	C	A	10: 62,650,276 (GRCm39)	C1644F	probably damaging	Het
Trmt5	T	C	12: 73,331,693 (GRCm39)	E121G	possibly damaging	Het
Ylpm1	A	G	12: 85,075,728 (GRCm39)	T360A	possibly damaging	Het
Zfp292	G	A	4: 34,808,790 (GRCm39)	P1418L	probably damaging	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
IGL00846:Wapl	APN	14	34,414,701 (GRCm39)	splice site	probably benign
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

2012-04-20