Mutagenetix > Incidental Mutation

Incidental Mutation 'R5121:Wapl'

393061

Institutional Source

Beutler Lab

Gene Symbol

Wapl

Ensembl Gene

ENSMUSG00000041408

Gene Name

WAPL cohesin release factor

Synonyms

A530089A20Rik, Wapal

MMRRC Submission

042709-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5121 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34673928-34747983 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34677162 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 63 (K63E)

Ref Sequence

ENSEMBL: ENSMUSP00000130547 (fasta)

Gene Model

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

AlphaFold

Q65Z40

Predicted Effect

probably benign
Transcript: ENSMUST00000048263
AA Change: K63E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000040232
Gene: ENSMUSG00000041408
AA Change: K63E

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: K63E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000087481
Gene: ENSMUSG00000041408
AA Change: K63E

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

probably benign
Transcript: ENSMUST00000169910
AA Change: K63E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000130547
Gene: ENSMUSG00000041408
AA Change: K63E

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

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	A	G	2: 58,281,650	I234T	probably damaging	Het
Adam24	A	G	8: 40,679,511	E6G	probably damaging	Het
Amz1	A	G	5: 140,744,164	D151G	probably benign	Het
Arhgap24	T	C	5: 102,841,335	L10P	probably damaging	Het
Arhgap25	T	G	6: 87,532,864	N8T	probably benign	Het
Arsi	T	G	18: 60,917,439	F465V	probably damaging	Het
Atp2c1	A	G	9: 105,448,825	V293A	probably damaging	Het
Bzw2	A	G	12: 36,104,351	L340P	probably damaging	Het
Camkmt	C	T	17: 85,096,581	T77I	probably benign	Het
Camsap1	G	T	2: 25,935,550	Q1375K	probably benign	Het
Catsper2	G	T	2: 121,397,123		probably null	Het
Cd163	T	C	6: 124,317,989	C671R	probably damaging	Het
Cdk7	T	C	13: 100,717,684		probably null	Het
Cfi	C	T	3: 129,873,077	P483L	probably damaging	Het
Chn2	C	T	6: 54,218,561	L72F	possibly damaging	Het
Cntn2	C	A	1: 132,517,060	E363*	probably null	Het
Crebbp	T	C	16: 4,093,511	E999G	probably damaging	Het
Cspp1	T	A	1: 10,126,463	N900K	probably damaging	Het
Cts3	A	C	13: 61,567,595	I141M	probably benign	Het
Cwc27	A	T	13: 104,804,353	V166D	probably damaging	Het
Defb26	T	C	2: 152,508,165	E65G	possibly damaging	Het
Dnah8	A	G	17: 30,810,353	T4099A	probably benign	Het
Eml6	A	G	11: 29,744,606	F1953L	probably benign	Het
Etl4	T	A	2: 20,340,111		probably null	Het
Fbln1	A	G	15: 85,237,671	E331G	probably damaging	Het
Gabra4	G	A	5: 71,572,203	H76Y	probably benign	Het
Gcat	T	C	15: 79,035,282	V149A	probably damaging	Het
Glp2r	A	T	11: 67,722,100		probably null	Het
Gm572	T	C	4: 148,666,845		probably null	Het
Golgb1	T	C	16: 36,919,258	V2653A	probably damaging	Het
Grap2	G	A	15: 80,646,144	R155Q	possibly damaging	Het
Gspt1	T	A	16: 11,223,301	I533L	probably damaging	Het
Gypa	A	T	8: 80,496,348	Y27F	unknown	Het
Hipk4	G	A	7: 27,529,492	V456I	probably benign	Het
Homer2	A	T	7: 81,649,563	D51E	probably benign	Het
Hspa1b	A	T	17: 34,958,004	V335E	possibly damaging	Het
Ift122	A	G	6: 115,912,534	T827A	probably benign	Het
Igkv1-35	T	C	6: 70,011,135	N58S	probably benign	Het
Kat6b	A	T	14: 21,619,258	H297L	probably damaging	Het
Kirrel3	G	T	9: 35,013,305	G296W	probably damaging	Het
Klhl17	A	G	4: 156,230,625	V525A	probably benign	Het
Lrrn1	G	T	6: 107,569,207	R655S	possibly damaging	Het
Ltk	T	C	2: 119,753,227	N256D	probably damaging	Het
Mill2	G	A	7: 18,856,666	G209S	probably benign	Het
Mmp27	A	T	9: 7,581,368	H544L	probably benign	Het
Mphosph10	A	G	7: 64,389,596	S209P	probably damaging	Het
Mphosph8	A	T	14: 56,676,546	K415*	probably null	Het
Myb	T	A	10: 21,126,238	M616L	probably benign	Het
Myo15b	C	T	11: 115,886,054	R867W	probably damaging	Het
Myo18b	A	T	5: 112,874,480		probably benign	Het
Nip7	A	G	8: 107,056,957	E8G	possibly damaging	Het
Olfr1318	A	T	2: 112,156,286	M112L	possibly damaging	Het
Olfr368	T	G	2: 37,332,589	F281V	probably damaging	Het
Olfr38	T	A	6: 42,762,997	L315*	probably null	Het
Olfr677	A	G	7: 105,056,482	T79A	possibly damaging	Het
Olfr711	T	C	7: 106,972,231	I38V	probably benign	Het
Optn	T	A	2: 5,046,106	I155F	probably benign	Het
Papolb	A	T	5: 142,528,837	H350Q	probably benign	Het
Pappa2	T	A	1: 158,838,627	M1128L	probably benign	Het
Pcdhb5	T	A	18: 37,321,117	N183K	probably benign	Het
Pde12	G	T	14: 26,669,422	S44*	probably null	Het
Peg3	T	C	7: 6,710,289	K645E	probably benign	Het
Pkd1	C	T	17: 24,573,463	R1375C	probably benign	Het
Plekha5	G	A	6: 140,579,474	E21K	probably damaging	Het
Plk2	C	T	13: 110,399,424	P554L	probably benign	Het
Pnkp	C	T	7: 44,862,403	S113L	probably damaging	Het
Polg	A	T	7: 79,464,605	W203R	probably damaging	Het
Ppcdc	A	G	9: 57,421,163	V65A	possibly damaging	Het
Ppm1m	T	A	9: 106,195,805	Q353L	probably benign	Het
Ppp1r13l	G	C	7: 19,370,095	R167P	probably damaging	Het
Ppp1r9b	T	A	11: 94,996,653	V497E	probably damaging	Het
Prpf6	T	A	2: 181,636,043	H399Q	probably benign	Het
Psg25	T	A	7: 18,526,536	I146F	possibly damaging	Het
Rasgef1c	A	T	11: 49,960,429	Q116L	probably damaging	Het
Rbbp9	A	G	2: 144,550,756	V8A	possibly damaging	Het
Rfk	T	C	19: 17,399,566	F144S	probably damaging	Het
Rfwd3	A	C	8: 111,282,753		probably null	Het
Rhpn1	T	C	15: 75,709,260	I117T	probably damaging	Het
Sars2	A	T	7: 28,747,908	N244Y	probably damaging	Het
Scnn1b	A	T	7: 121,902,887	H256L	probably benign	Het
Sgcz	G	A	8: 37,539,667	T195I	probably damaging	Het
Sh3gl2	T	A	4: 85,379,257	H157Q	probably benign	Het
Spen	T	A	4: 141,476,099	Q1739L	probably benign	Het
Susd1	G	T	4: 59,379,657	S323R	possibly damaging	Het
Szt2	T	C	4: 118,385,444	E1482G	possibly damaging	Het
Tex15	A	T	8: 33,571,766	K408I	probably damaging	Het
Tex33	C	T	15: 78,386,173	E132K	probably benign	Het
Trem1	T	A	17: 48,232,836	F14L	probably null	Het
Trim26	G	T	17: 36,851,066	E126*	probably null	Het
Trpv3	T	C	11: 73,277,834		probably null	Het
Ttn	T	A	2: 76,916,491		probably null	Het
Ubap1	C	T	4: 41,379,688	L301F	probably benign	Het
Uchl1	T	C	5: 66,676,437	M12T	probably benign	Het
Vill	C	T	9: 119,070,025	T253I	possibly damaging	Het
Vmn2r107	C	T	17: 20,355,753	T115I	probably benign	Het
Vmn2r98	T	C	17: 19,053,553	S21P	probably benign	Het
Wnt2	T	C	6: 18,023,126	K175E	possibly damaging	Het
Zfp592	T	C	7: 81,023,561	L91P	probably damaging	Het
Zfp74	T	C	7: 29,932,507		probably null	Het
Zglp1	A	T	9: 21,062,661	I243N	probably benign	Het
Zranb1	A	G	7: 132,950,187	E215G	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
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
R8988:Wapl	UTSW	14	34729182	missense	probably damaging	1.00
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'- TCACAGGGAATATGAAACAGGTGTC -3'
(R):5'- CGGAAGCAAAACTGTCTTCACC -3'

Sequencing Primer
(F):5'- GGAATATGAAACAGGTGTCAAAATG -3'
(R):5'- ACCACATGACTACATTTGCTATTAGC -3'

Posted On

2016-06-15