Mutagenetix > Incidental Mutation

Incidental Mutation 'R8988:Wapl'

684254

Institutional Source

Beutler Lab

Gene Symbol

Wapl

Ensembl Gene

ENSMUSG00000041408

Gene Name

WAPL cohesin release factor

Synonyms

A530089A20Rik, Wapal

MMRRC Submission

068820-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8988 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34673928-34747983 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34729182 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 724 (N724K)

Ref Sequence

ENSEMBL: ENSMUSP00000040232 (fasta)

Gene Model

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

AlphaFold

Q65Z40

Predicted Effect

probably damaging
Transcript: ENSMUST00000048263
AA Change: N724K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000040232
Gene: ENSMUSG00000041408
AA Change: N724K

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: N718K

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000087481
Gene: ENSMUSG00000041408
AA Change: N718K

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

SMART Domains

Protein: ENSMUSP00000117282
Gene: ENSMUSG00000041408
AA Change: N8K

Domain	Start	End	E-Value	Type
Pfam:WAPL	1	281	1.1e-78	PFAM
coiled coil region	329	351	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000169910
AA Change: N724K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000130547
Gene: ENSMUSG00000041408
AA Change: N724K

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

96% (81/84)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	A	G	3: 88,699,979	N330S	probably benign	Het
Abi2	C	T	1: 60,450,092	T291I	probably benign	Het
Aox1	A	C	1: 58,049,466	D137A	possibly damaging	Het
Apbb2	T	C	5: 66,452,101	K68E	probably damaging	Het
Arf3	A	T	15: 98,741,052	M108K	probably benign	Het
Atg2b	T	A	12: 105,617,129	I2058F	probably damaging	Het
Bhlhe40	C	T	6: 108,662,557	L99F	probably damaging	Het
Cyp2b10	G	A	7: 25,926,245	R500H	probably damaging	Het
Dlc1	C	T	8: 36,572,843	E937K	probably damaging	Het
Dll3	A	T	7: 28,296,368	V336D	possibly damaging	Het
Dync2h1	A	G	9: 7,037,727	F3377L	probably benign	Het
Eef1d	A	G	15: 75,896,311	Y561H	probably damaging	Het
Epb41l1	C	A	2: 156,521,671	T700K	probably benign	Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Ephb2	C	A	4: 136,675,458	G501C	probably benign	Het
Erbb3	T	C	10: 128,570,161	Y1129C	probably damaging	Het
Fbn1	C	T	2: 125,370,806	V799M	possibly damaging	Het
Fbxo9	G	A	9: 78,084,651	P353S	probably benign	Het
Ggt1	T	G	10: 75,576,222	V100G	probably benign	Het
Gm11639	T	G	11: 105,020,526	V4544G	probably benign	Het
Gm45861	T	C	8: 27,542,503	M885T	unknown	Het
Gm609	T	C	16: 45,417,908	H294R	probably benign	Het
Grin2d	A	T	7: 45,834,001	Y917*	probably null	Het
Hectd4	T	A	5: 121,277,756	V540D	possibly damaging	Het
Helz	T	A	11: 107,604,253	I351K	probably damaging	Het
Ighv2-6-8	A	G	12: 113,796,360	V43A	probably damaging	Het
Igkv9-129	T	A	6: 67,840,122	I70N	probably damaging	Het
Il18	A	T	9: 50,577,878	D69V	probably damaging	Het
Kcnh7	T	A	2: 62,721,865	E927D		Het
Kcnt2	T	A	1: 140,428,849	V342E	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Krt18	C	G	15: 102,029,527	A153G	probably damaging	Het
Lmntd2	A	T	7: 141,212,064		probably benign	Het
Lrrc26	G	T	2: 25,290,274	A96S	probably benign	Het
Map3k11	A	T	19: 5,702,138	S783C	probably damaging	Het
Mib2	G	A	4: 155,656,272	L632F	possibly damaging	Het
Mical2	A	C	7: 112,311,454	D277A	possibly damaging	Het
Mtr	A	T	13: 12,235,479	F339L	probably benign	Het
Musk	T	C	4: 58,354,032	F362L	probably benign	Het
Ncor1	G	A	11: 62,343,045	Q444*	probably null	Het
Nek4	T	C	14: 30,963,967	S279P		Het
Nell1	C	T	7: 50,560,795	T348I	unknown	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nrip1	T	C	16: 76,292,014	H885R	probably damaging	Het
Olfr1382	C	A	11: 49,535,201	N5K	probably damaging	Het
Olfr214	A	G	6: 116,557,294	T290A	possibly damaging	Het
Olfr448	T	A	6: 42,897,267	V272D		Het
Olfr525	G	A	7: 140,323,025	G109R	possibly damaging	Het
Olfr784	T	C	10: 129,388,371	V246A	probably damaging	Het
Olfr822	T	A	10: 130,074,653	V81D	possibly damaging	Het
Otog	A	G	7: 46,310,147	D720G	probably damaging	Het
P3h3	C	A	6: 124,857,601	Q29H	possibly damaging	Het
Parn	A	G	16: 13,648,417		probably null	Het
Pcnt	C	A	10: 76,409,573	E1077*	probably null	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pigb	A	G	9: 73,022,294	W336R	probably damaging	Het
Pkdrej	A	T	15: 85,816,337	S1799R	probably damaging	Het
Pnpla6	G	T	8: 3,517,401	M86I	possibly damaging	Het
Prickle2	T	C	6: 92,458,639	K50E	possibly damaging	Het
Psg21	A	G	7: 18,652,464	V199A	probably benign	Het
Reep3	T	C	10: 67,036,007		probably null	Het
Reln	T	C	5: 21,899,157	D3272G	probably damaging	Het
Rps6ka4	A	G	19: 6,831,299	V526A	possibly damaging	Het
Sel1l3	T	C	5: 53,123,429	E911G	probably damaging	Het
Serpinb6b	C	A	13: 32,978,142	A308E	probably benign	Het
Slc26a4	A	G	12: 31,522,524	V746A	probably benign	Het
Slc4a3	T	G	1: 75,551,313	M402R	probably damaging	Het
Slc9b1	A	T	3: 135,373,139	T186S	possibly damaging	Het
Slk	A	G	19: 47,620,273	Q555R	probably benign	Het
Smc2	T	A	4: 52,475,100	D925E	probably benign	Het
Stat5a	A	T	11: 100,883,938	T758S	unknown	Het
Sulf1	A	G	1: 12,836,275	S514G	probably benign	Het
Tcp11l1	T	A	2: 104,706,508	N4I	probably damaging	Het
Tex2	A	T	11: 106,511,905	I1047K	unknown	Het
Tmem184b	A	G	15: 79,377,064	V114A	possibly damaging	Het
Trmt11	A	G	10: 30,591,031	V95A	probably benign	Het
Trp53bp2	A	G	1: 182,440,868	D169G	possibly damaging	Het
Ttc41	T	A	10: 86,713,735	N264K	possibly damaging	Het
Uba2	A	C	7: 34,154,562	S318R	probably benign	Het
Wfdc9	T	A	2: 164,651,751	I5F	probably damaging	Het
Zan	C	T	5: 137,408,301	D3686N	unknown	Het
Zfp618	A	T	4: 63,094,471	Y140F	probably benign	Het
Zfp790	A	G	7: 29,828,168	T93A	probably benign	Het
Zfp979	A	C	4: 147,613,527	F242V	probably benign	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
IGL02209:Wapl	APN	14	34677261	missense	possibly damaging	0.46
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
Tatum	UTSW	14	34729195	missense	probably damaging	1.00
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
R7080:Wapl	UTSW	14	34692356	missense	probably benign	0.03
R7203:Wapl	UTSW	14	34736691	missense	probably benign
R7944:Wapl	UTSW	14	34677148	missense	probably benign	0.00
R7945:Wapl	UTSW	14	34677148	missense	probably benign	0.00
R7969:Wapl	UTSW	14	34730647	missense	probably damaging	1.00
R8038:Wapl	UTSW	14	34691682	missense	probably benign
R8053:Wapl	UTSW	14	34692321	missense	probably damaging	1.00
R8688:Wapl	UTSW	14	34692592	missense	possibly damaging	0.94
R8864:Wapl	UTSW	14	34692202	missense	probably benign	0.03
R9072:Wapl	UTSW	14	34677460	missense	possibly damaging	0.81
R9197:Wapl	UTSW	14	34722287	missense	probably damaging	1.00
R9259:Wapl	UTSW	14	34741095	missense	probably benign	0.00
R9545:Wapl	UTSW	14	34677093	missense	probably damaging	1.00
R9613:Wapl	UTSW	14	34731563	missense	probably benign	0.29
R9624:Wapl	UTSW	14	34692106	missense	possibly damaging	0.89
Z1177:Wapl	UTSW	14	34745690	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- CTGTTCAAAGAAATGGGTAGCG -3'
(R):5'- CACAGTTTCACAGAGTCTTCGG -3'

Sequencing Primer
(F):5'- CAAATAGCTATGTTTCCCTAGGC -3'
(R):5'- ACAGAGTCTTCGGATCTTTTCTTTG -3'

Posted On

2021-10-11