Mutagenetix > Incidental Mutation

Incidental Mutation 'R6487:Wapl'

517487

Institutional Source

Beutler Lab

Gene Symbol

Wapl

Ensembl Gene

ENSMUSG00000041408

Gene Name

WAPL cohesin release factor

Synonyms

A530089A20Rik, Wapal

MMRRC Submission

044619-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6487 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34395885-34469940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34414249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 370 (H370Q)

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: H370Q

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

SMART Domains

Protein: ENSMUSP00000040232
Gene: ENSMUSG00000041408
AA Change: H370Q

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: H370Q

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

SMART Domains

Protein: ENSMUSP00000087481
Gene: ENSMUSG00000041408
AA Change: H370Q

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: H370Q

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

SMART Domains

Protein: ENSMUSP00000130547
Gene: ENSMUSG00000041408
AA Change: H370Q

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

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

100% (32/32)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,616,446 (GRCm39)	Y963H	possibly damaging	Het
Alpk2	T	C	18: 65,399,254 (GRCm39)	N2108S	possibly damaging	Het
Atp13a1	T	C	8: 70,252,528 (GRCm39)	S641P	probably damaging	Het
Bptf	C	T	11: 106,968,552 (GRCm39)	V981I	probably damaging	Het
Cntrl	A	T	2: 35,012,694 (GRCm39)	K277N	possibly damaging	Het
Cops5	T	C	1: 10,108,004 (GRCm39)	T12A	probably benign	Het
Cyp2c37	A	T	19: 39,983,025 (GRCm39)	T205S	probably benign	Het
Dnah7c	T	C	1: 46,808,284 (GRCm39)	V3485A	probably damaging	Het
Ifna6	A	T	4: 88,745,743 (GRCm39)	N31Y	probably damaging	Het
Irgm1	C	A	11: 48,756,777 (GRCm39)	A345S	probably benign	Het
Kics2	T	C	10: 121,581,446 (GRCm39)	L13P	probably damaging	Het
Med13	T	C	11: 86,221,976 (GRCm39)	T218A	probably damaging	Het
Mroh2b	G	T	15: 4,976,721 (GRCm39)	D1225Y	probably damaging	Het
Npepl1	A	G	2: 173,953,525 (GRCm39)	E152G	probably benign	Het
Oog2	A	G	4: 143,923,055 (GRCm39)	E440G	possibly damaging	Het
Or4c35	A	T	2: 89,808,182 (GRCm39)	D20V	probably benign	Het
Or4k38	T	C	2: 111,166,012 (GRCm39)	D137G	probably benign	Het
Or5d41	A	G	2: 88,054,870 (GRCm39)	S169P	possibly damaging	Het
Or5h26	A	T	16: 58,988,536 (GRCm39)		probably null	Het
Or8b54	A	G	9: 38,686,731 (GRCm39)	Y60C	probably damaging	Het
Ranbp2	T	C	10: 58,321,563 (GRCm39)	V2620A	probably benign	Het
Rims4	A	T	2: 163,706,817 (GRCm39)	F187Y	possibly damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Shisa9	C	T	16: 12,062,475 (GRCm39)	T232I	probably benign	Het
Slf1	A	T	13: 77,214,736 (GRCm39)	I650N	probably damaging	Het
Tpst2	T	C	5: 112,455,989 (GRCm39)	L176P	probably damaging	Het
U2surp	A	T	9: 95,359,565 (GRCm39)	M650K	probably damaging	Het
Vmn1r17	A	T	6: 57,338,209 (GRCm39)	M3K	possibly damaging	Het
Vmn1r55	A	G	7: 5,149,554 (GRCm39)	S290P	probably benign	Het
Vmn2r102	G	A	17: 19,898,169 (GRCm39)	E395K	probably damaging	Het
Xab2	T	C	8: 3,663,879 (GRCm39)	S347G	possibly 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
IGL00539:Wapl	APN	14	34,416,965 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGATCCTCACAGGGAGCATC -3'
(R):5'- TCGCTGAGATCGTCAAAGCC -3'

Sequencing Primer
(F):5'- CCTCACAGGGAGCATCAAATTTTG -3'
(R):5'- TTGTAATTAGAACTTCCAGAACCCC -3'

Posted On

2018-05-21