Mutagenetix > Incidental Mutation

Incidental Mutation 'R6925:Wapl'

541117

Institutional Source

Beutler Lab

Gene Symbol

Wapl

Ensembl Gene

ENSMUSG00000041408

Gene Name

WAPL cohesin release factor

Synonyms

A530089A20Rik, Wapal

MMRRC Submission

045043-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6925 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34673928-34747983 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34677363 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 130 (S130P)

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: S130P

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000040232
Gene: ENSMUSG00000041408
AA Change: S130P

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: S130P

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000087481
Gene: ENSMUSG00000041408
AA Change: S130P

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: S130P

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000130547
Gene: ENSMUSG00000041408
AA Change: S130P

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

Meta Mutation Damage Score

0.0787

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (91/91)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	A	T	9: 53,592,029 (GRCm38)	V170E	probably benign	Het
Atp2b2	T	A	6: 113,760,720 (GRCm38)	I902F	probably damaging	Het
Cacna1d	A	G	14: 30,051,637 (GRCm38)	V1697A	probably benign	Het
Ccdc14	T	A	16: 34,690,749 (GRCm38)	F31Y	probably benign	Het
Ccdc17	T	A	4: 116,598,210 (GRCm38)	V250E	probably damaging	Het
Cct7	A	G	6: 85,459,182 (GRCm38)	N25S	probably damaging	Het
Cdcp3	A	G	7: 131,222,707 (GRCm38)	Q177R	possibly damaging	Het
Cep19	G	C	16: 32,103,942 (GRCm38)	G9R	probably damaging	Het
Ces5a	A	T	8: 93,523,057 (GRCm38)		probably null	Het
Chd1l	T	G	3: 97,582,826 (GRCm38)	E471A	probably damaging	Het
Chd6	A	G	2: 161,013,127 (GRCm38)	I787T	probably damaging	Het
Cntnap5c	A	C	17: 58,395,266 (GRCm38)	T1194P	probably benign	Het
Col6a3	T	A	1: 90,816,002 (GRCm38)	M208L	probably benign	Het
Coro7	A	T	16: 4,628,674 (GRCm38)		probably null	Het
Csrnp2	T	C	15: 100,481,958 (GRCm38)	K484R	probably benign	Het
Cyp2c39	T	A	19: 39,513,195 (GRCm38)	V64E	probably damaging	Het
Ddr2	T	C	1: 169,998,132 (GRCm38)	K300E	probably benign	Het
Ddx56	T	C	11: 6,263,980 (GRCm38)	E393G	probably damaging	Het
Diaph1	A	C	18: 37,853,679 (GRCm38)	Y1084*	probably null	Het
Disp1	A	T	1: 183,086,478 (GRCm38)	F1459L	probably benign	Het
Dnajc8	G	A	4: 132,544,113 (GRCm38)	A80T	probably damaging	Het
Elfn1	T	A	5: 139,971,685 (GRCm38)	M148K	probably benign	Het
Emcn	T	A	3: 137,419,002 (GRCm38)	I154N	probably damaging	Het
Enah	T	A	1: 181,905,899 (GRCm38)		probably null	Het
Enah	C	G	1: 181,905,898 (GRCm38)		probably null	Het
Ep300	C	A	15: 81,649,981 (GRCm38)	Q2080K	probably benign	Het
Epha2	T	A	4: 141,308,757 (GRCm38)	M168K	probably benign	Het
Ercc6	T	A	14: 32,562,608 (GRCm38)	I776N	probably damaging	Het
Fan1	T	A	7: 64,372,486 (GRCm38)	N340Y	probably damaging	Het
Fat4	G	T	3: 38,996,204 (GRCm38)		probably null	Het
G3bp1	A	G	11: 55,497,960 (GRCm38)	R333G	possibly damaging	Het
Gm3604	A	G	13: 62,369,390 (GRCm38)	F385L	probably benign	Het
Gm5800	T	C	14: 51,713,700 (GRCm38)	I147M	possibly damaging	Het
Hipk1	A	G	3: 103,778,245 (GRCm38)	F18S	unknown	Het
Ighv3-8	A	T	12: 114,322,330 (GRCm38)	C131S	probably benign	Het
Il23r	T	G	6: 67,423,493 (GRCm38)	T618P	probably damaging	Het
Il31ra	G	A	13: 112,527,529 (GRCm38)	T538I	possibly damaging	Het
Kcns2	A	G	15: 34,839,913 (GRCm38)	D474G	unknown	Het
Klc4	T	C	17: 46,636,229 (GRCm38)	T407A	possibly damaging	Het
Klra5	C	T	6: 129,911,457 (GRCm38)	S2N	probably benign	Het
Krt10	T	C	11: 99,388,851 (GRCm38)	Y161C	probably damaging	Het
Kxd1	A	T	8: 70,523,278 (GRCm38)	M1K	probably null	Het
Lgals1	A	C	15: 78,928,040 (GRCm38)	D27A	possibly damaging	Het
Lgr5	T	C	10: 115,466,346 (GRCm38)	S308G	probably benign	Het
Lrp1	G	A	10: 127,556,988 (GRCm38)	S2736L	probably benign	Het
Lrpap1	G	T	5: 35,102,536 (GRCm38)	H73N	probably benign	Het
Mcpt1	C	A	14: 56,019,065 (GRCm38)	T86K	probably damaging	Het
Megf6	A	T	4: 154,254,587 (GRCm38)	D527V	probably damaging	Het
Mical3	A	T	6: 120,959,390 (GRCm38)	S1392T	probably benign	Het
Mmp2	A	T	8: 92,839,382 (GRCm38)	D437V	probably damaging	Het
Mob4	T	A	1: 55,152,722 (GRCm38)	Y166*	probably null	Het
Mrap2	G	A	9: 87,182,474 (GRCm38)	M89I	possibly damaging	Het
Mug1	G	A	6: 121,881,787 (GRCm38)	A1155T	probably damaging	Het
Myh2	G	T	11: 67,193,218 (GRCm38)	A1556S	probably benign	Het
Nfatc3	A	G	8: 106,119,322 (GRCm38)	D1028G	probably benign	Het
Ngef	T	G	1: 87,503,263 (GRCm38)		probably null	Het
Nlrp1a	A	T	11: 71,092,513 (GRCm38)	L1209Q	probably null	Het
Npr2	C	T	4: 43,647,553 (GRCm38)	R819C	probably damaging	Het
Nsd2	A	T	5: 33,879,110 (GRCm38)	D646V	probably damaging	Het
Nsun7	A	G	5: 66,277,072 (GRCm38)	H252R	probably damaging	Het
Or2a25	T	A	6: 42,911,857 (GRCm38)	C111*	probably null	Het
Or2k2	A	T	4: 58,785,647 (GRCm38)	I25N	possibly damaging	Het
Or51a10	C	T	7: 104,049,740 (GRCm38)	V205I	probably benign	Het
Or8g32	A	T	9: 39,393,860 (GRCm38)	Q20L	probably benign	Het
Or8g32	G	T	9: 39,393,861 (GRCm38)	Q20H	probably benign	Het
Pcdhga2	A	T	18: 37,670,585 (GRCm38)	D494V	probably damaging	Het
Pcsk2	A	G	2: 143,813,747 (GRCm38)	E617G	probably damaging	Het
Pdc	T	C	1: 150,333,180 (GRCm38)	I138T	probably damaging	Het
Phc2	T	A	4: 128,748,134 (GRCm38)	S750T	probably damaging	Het
Pkd2l1	T	A	19: 44,191,508 (GRCm38)	N88Y	possibly damaging	Het
Plcl1	C	T	1: 55,406,598 (GRCm38)	R71*	probably null	Het
Prag1	C	A	8: 36,103,894 (GRCm38)	L544M	probably damaging	Het
Prkg2	A	G	5: 98,966,510 (GRCm38)		probably null	Het
Psd2	G	A	18: 35,979,711 (GRCm38)	S153N	probably damaging	Het
Rab11fip1	A	T	8: 27,152,972 (GRCm38)	S600T	probably damaging	Het
Rbms1	T	G	2: 60,762,304 (GRCm38)	T222P	probably benign	Het
Slfn8	A	T	11: 83,013,417 (GRCm38)	Y382*	probably null	Het
Socs4	T	A	14: 47,289,738 (GRCm38)	C43*	probably null	Het
Sorl1	T	A	9: 42,033,626 (GRCm38)	T868S	probably damaging	Het
St6gal1	A	G	16: 23,356,213 (GRCm38)	Y267C	probably damaging	Het
Syne1	A	G	10: 5,126,682 (GRCm38)	V6879A	probably benign	Het
Syne2	C	A	12: 75,854,132 (GRCm38)	H22N	possibly damaging	Het
Tmeff2	T	A	1: 50,928,021 (GRCm38)	L25Q	probably damaging	Het
Tmprss11g	G	T	5: 86,487,426 (GRCm38)	D396E	probably benign	Het
Tmprss11g	T	A	5: 86,487,436 (GRCm38)	H393L	probably benign	Het
Vmn2r23	A	G	6: 123,704,553 (GRCm38)	E140G	probably damaging	Het
Zeb2	T	A	2: 44,994,529 (GRCm38)	K982M	probably damaging	Het
Zfhx3	C	G	8: 108,956,821 (GRCm38)	H3631D	unknown	Het
Zfp719	T	C	7: 43,590,706 (GRCm38)	S573P	probably damaging	Het
Zfp979	A	T	4: 147,613,542 (GRCm38)	C237S	possibly damaging	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
IGL02209:Wapl	APN	14	34,677,261 (GRCm38)	missense	possibly damaging	0.46
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
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

Predicted Primers

PCR Primer
(F):5'- ATTCAAGAAATTCCGAAGAAACCTAA -3'
(R):5'- TCCATGCACACAAGTAATAAATTAGA -3'

Sequencing Primer
(F):5'- GAAGATACTGGAGATCCCTTTGG -3'
(R):5'- GGCCTTCTTGGCTTATAGG -3'

Posted On

2018-11-28