Mutagenetix > Incidental Mutation

Incidental Mutation 'R7697:Wls'

593699

Institutional Source

Beutler Lab

Gene Symbol

Wls

Ensembl Gene

ENSMUSG00000028173

Gene Name

wntless WNT ligand secretion mediator

Synonyms

5031439A09Rik, Gpr177

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7697 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

159545309-159644300 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 159616955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 331 (H331Q)

Ref Sequence

ENSEMBL: ENSMUSP00000067898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068952] [ENSMUST00000198878] [ENSMUST00000200191]

AlphaFold

Q6DID7

Predicted Effect

probably benign
Transcript: ENSMUST00000068952
AA Change: H331Q

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000067898
Gene: ENSMUSG00000028173
AA Change: H331Q

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
low complexity region	36	47	N/A	INTRINSIC
Pfam:MIG-14_Wnt-bd	178	496	3.7e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000198878
AA Change: H331Q

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143475
Gene: ENSMUSG00000028173
AA Change: H331Q

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
low complexity region	36	47	N/A	INTRINSIC
Pfam:MIG-14_Wnt-bd	177	497	2.8e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200191

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for null alleles exhibit impaired body axis and triploblastic development dying prior to E10.5. Mice homozygous for a floxed allele activated in keratinocytes exhibit a psoriasiform dermatitis-like phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd4	T	C	14: 54,500,216 (GRCm39)	V87A	probably damaging	Het
Acadsb	A	G	7: 131,031,698 (GRCm39)	E178G	probably damaging	Het
Acoxl	A	G	2: 127,820,702 (GRCm39)	T365A	probably benign	Het
Adcy8	T	G	15: 64,618,850 (GRCm39)	I768L	probably benign	Het
Bloc1s4	A	G	5: 36,905,959 (GRCm39)	S11P	probably benign	Het
Brinp2	T	C	1: 158,095,496 (GRCm39)	I122V	probably benign	Het
Brwd1	T	C	16: 95,847,601 (GRCm39)	D673G	probably benign	Het
Cbx8	C	A	11: 118,931,637 (GRCm39)	E14*	probably null	Het
Cep295	T	A	9: 15,266,006 (GRCm39)	M49L	probably benign	Het
Cfap157	T	C	2: 32,669,765 (GRCm39)	N273D	probably benign	Het
Cntn3	A	T	6: 102,185,127 (GRCm39)	V663E	probably damaging	Het
Cntn3	C	T	6: 102,185,128 (GRCm39)	V663M	probably damaging	Het
Cspg5	G	C	9: 110,085,294 (GRCm39)	R488S	probably damaging	Het
Csrnp2	A	T	15: 100,385,953 (GRCm39)	M95K	probably damaging	Het
Dnah3	A	T	7: 119,566,657 (GRCm39)	V136E		Het
Drg2	T	A	11: 60,353,003 (GRCm39)	I212N	probably damaging	Het
Egfem1	T	C	3: 29,744,346 (GRCm39)		probably null	Het
Eif1ad18	T	C	12: 88,050,749 (GRCm39)	Y95H	probably damaging	Het
Enpep	T	A	3: 129,102,750 (GRCm39)	D402V	probably damaging	Het
Fanci	T	A	7: 79,056,040 (GRCm39)		probably null	Het
Fgd6	T	A	10: 93,881,306 (GRCm39)	V720D	probably damaging	Het
Fhod1	T	A	8: 106,074,563 (GRCm39)		probably benign	Het
Flnc	T	A	6: 29,456,516 (GRCm39)	I2238N	probably damaging	Het
Frmd4a	A	G	2: 4,488,892 (GRCm39)	E79G	probably damaging	Het
Gabrr2	A	T	4: 33,071,358 (GRCm39)	Y66F	probably benign	Het
Ggnbp1	T	G	17: 27,249,736 (GRCm39)	I192S	probably benign	Het
Gm32742	C	T	9: 51,058,901 (GRCm39)	V1039I	probably benign	Het
H2-D1	T	C	17: 35,482,121 (GRCm39)	L11P	probably damaging	Het
Hsd17b4	A	G	18: 50,263,208 (GRCm39)	Y25C	probably damaging	Het
Ildr2	C	A	1: 166,122,300 (GRCm39)	Q248K	probably benign	Het
Klrb1c	T	C	6: 128,757,273 (GRCm39)	H264R	probably benign	Het
Lrp11	C	T	10: 7,479,983 (GRCm39)	A346V	probably benign	Het
Mast4	G	A	13: 102,875,711 (GRCm39)	P1319L	probably damaging	Het
Mcm9	A	C	10: 53,491,990 (GRCm39)	F392V		Het
Med12l	C	T	3: 59,148,078 (GRCm39)	A965V	probably damaging	Het
Mrps7	A	G	11: 115,495,701 (GRCm39)	T80A	probably benign	Het
Mtor	T	A	4: 148,624,765 (GRCm39)	Y2125*	probably null	Het
Myoc	A	G	1: 162,475,049 (GRCm39)	E200G	probably damaging	Het
Natd1	A	G	11: 60,797,808 (GRCm39)	V39A	probably damaging	Het
Notch4	C	T	17: 34,789,159 (GRCm39)	T486I	probably damaging	Het
Or10am5	T	C	7: 6,517,645 (GRCm39)	Y261C	probably damaging	Het
Or10n1	A	G	9: 39,525,157 (GRCm39)	Q98R	probably damaging	Het
Or2c1	G	A	16: 3,657,430 (GRCm39)	V198M	probably damaging	Het
Or5aq6	T	A	2: 86,923,162 (GRCm39)	H193L	probably benign	Het
Pdss2	T	A	10: 43,221,544 (GRCm39)	I152N	probably damaging	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Plec	T	C	15: 76,065,885 (GRCm39)	E1395G	unknown	Het
Polr2b	T	C	5: 77,468,059 (GRCm39)	Y120H	probably damaging	Het
Pyroxd2	C	T	19: 42,735,805 (GRCm39)	C99Y	probably benign	Het
Rela	T	C	19: 5,691,630 (GRCm39)	V268A	probably damaging	Het
Rgs3	C	T	4: 62,575,379 (GRCm39)	P589S	probably benign	Het
Rtn1	A	G	12: 72,455,151 (GRCm39)	S59P	probably benign	Het
Siae	A	G	9: 37,544,950 (GRCm39)	Y315C	probably damaging	Het
Susd3	C	A	13: 49,391,074 (GRCm39)	W147L	probably damaging	Het
Ttn	A	T	2: 76,702,047 (GRCm39)		probably null	Het
Ubr3	A	G	2: 69,728,030 (GRCm39)	Y131C	probably damaging	Het
Unc80	C	T	1: 66,677,104 (GRCm39)	P2011L	possibly damaging	Het
Usp9y	T	C	Y: 1,316,990 (GRCm39)	E1853G	possibly damaging	Het
Xkr6	C	A	14: 63,844,628 (GRCm39)	P217Q	probably damaging	Het

Other mutations in Wls

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01924:Wls	APN	3	159,607,080 (GRCm39)	nonsense	probably null
IGL02065:Wls	APN	3	159,616,993 (GRCm39)	missense	probably damaging	0.99
IGL02073:Wls	APN	3	159,612,890 (GRCm39)	critical splice donor site	probably null
IGL02133:Wls	APN	3	159,603,007 (GRCm39)	missense	probably damaging	1.00
R0374:Wls	UTSW	3	159,603,074 (GRCm39)	nonsense	probably null
R0561:Wls	UTSW	3	159,578,705 (GRCm39)	missense	probably benign	0.32
R1697:Wls	UTSW	3	159,602,995 (GRCm39)	missense	probably benign	0.12
R1791:Wls	UTSW	3	159,617,450 (GRCm39)	missense	probably benign	0.17
R2444:Wls	UTSW	3	159,612,867 (GRCm39)	missense	probably damaging	1.00
R3161:Wls	UTSW	3	159,603,073 (GRCm39)	missense	probably damaging	1.00
R4285:Wls	UTSW	3	159,639,902 (GRCm39)	missense	probably benign
R4468:Wls	UTSW	3	159,578,564 (GRCm39)	missense	probably damaging	0.96
R4472:Wls	UTSW	3	159,603,020 (GRCm39)	missense	probably benign	0.01
R4782:Wls	UTSW	3	159,603,082 (GRCm39)	missense	probably benign	0.03
R4799:Wls	UTSW	3	159,603,082 (GRCm39)	missense	probably benign	0.03
R4809:Wls	UTSW	3	159,603,082 (GRCm39)	missense	probably benign	0.03
R5006:Wls	UTSW	3	159,617,428 (GRCm39)	missense	possibly damaging	0.68
R5212:Wls	UTSW	3	159,578,645 (GRCm39)	missense	probably benign	0.15
R5434:Wls	UTSW	3	159,639,976 (GRCm39)	missense	probably damaging	0.97
R5694:Wls	UTSW	3	159,545,624 (GRCm39)	missense	probably benign	0.01
R6315:Wls	UTSW	3	159,640,007 (GRCm39)	critical splice donor site	probably null
R7069:Wls	UTSW	3	159,639,965 (GRCm39)	missense	probably damaging	1.00
R7243:Wls	UTSW	3	159,615,402 (GRCm39)	missense	possibly damaging	0.49
R7529:Wls	UTSW	3	159,578,644 (GRCm39)	missense	probably benign	0.43
R7842:Wls	UTSW	3	159,578,816 (GRCm39)	missense	probably benign	0.09
R8136:Wls	UTSW	3	159,578,761 (GRCm39)	missense	probably damaging	1.00
R8536:Wls	UTSW	3	159,578,748 (GRCm39)	missense	probably damaging	0.96
R8816:Wls	UTSW	3	159,639,928 (GRCm39)	missense	possibly damaging	0.89
R9074:Wls	UTSW	3	159,615,403 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- ATTGACAGCCCCAGTGAATG -3'
(R):5'- GTCATCTGTGGATATTGACCTCTC -3'

Sequencing Primer
(F):5'- GGACTTTGTAATGAATGTTCTTCCTC -3'
(R):5'- GTGGATATTGACCTCTCCAATATTC -3'

Posted On

2019-11-12