Mutagenetix > Incidental Mutation

Incidental Mutation 'R8071:Wnt16'

628906

Institutional Source

Beutler Lab

Gene Symbol

Wnt16

Ensembl Gene

ENSMUSG00000029671

Gene Name

wingless-type MMTV integration site family, member 16

Synonyms

E130309I19Rik

MMRRC Submission

067506-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8071 (G1)

Quality Score

182.009

Status

Not validated

Chromosome

Chromosomal Location

22288226-22298521 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 22288997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 105 (A105T)

Ref Sequence

ENSEMBL: ENSMUSP00000031681 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031681] [ENSMUST00000128245] [ENSMUST00000148639]

AlphaFold

Q9QYS1

Predicted Effect

probably benign
Transcript: ENSMUST00000031681
AA Change: A105T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031681
Gene: ENSMUSG00000029671
AA Change: A105T

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
WNT1	48	364	1.13e-146	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128245
AA Change: A105T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000134822
Gene: ENSMUSG00000029671
AA Change: A105T

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
WNT1	48	225	1.04e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000148639
AA Change: A105T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000135016
Gene: ENSMUSG00000029671
AA Change: A105T

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
WNT1	48	225	1.61e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176681
AA Change: A46T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 98.8%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It contains two transcript variants diverging at the 5' termini. These two variants are proposed to be the products of separate promoters and not to be splice variants from a single promoter. They are differentially expressed in normal tissues, one of which (variant 2) is expressed at significant levels only in the pancreas, whereas another one (variant 1) is expressed more ubiquitously with highest levels in adult kidney, placenta, brain, heart, and spleen. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased bone mineral density, cortical bone thickness and bone strength. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	T	C	5: 115,251,226 (GRCm39)	E86G	probably benign	Het
Agmo	A	G	12: 37,448,728 (GRCm39)	T217A	probably damaging	Het
Arhgap39	A	G	15: 76,621,702 (GRCm39)	S300P	probably benign	Het
Casp12	T	C	9: 5,346,647 (GRCm39)	L58P	probably damaging	Het
Ccar2	T	C	14: 70,389,902 (GRCm39)	T24A	probably benign	Het
Ccndbp1	C	A	2: 120,845,046 (GRCm39)	T321K	unknown	Het
Cd200r3	G	A	16: 44,774,503 (GRCm39)	C172Y	probably damaging	Het
Chd2	T	A	7: 73,187,132 (GRCm39)	H9L	probably benign	Het
Cracdl	C	A	1: 37,663,010 (GRCm39)	E963*	probably null	Het
Cramp1	T	A	17: 25,201,674 (GRCm39)	S603C	probably damaging	Het
Crtac1	C	T	19: 42,286,239 (GRCm39)	R448H	probably damaging	Het
Csmd2	A	T	4: 128,287,331 (GRCm39)	Y1022F		Het
Ctns	T	C	11: 73,075,760 (GRCm39)	Y363C	probably damaging	Het
D630044L22Rik	A	G	17: 26,179,118 (GRCm39)	T15A	possibly damaging	Het
Dhx38	A	C	8: 110,285,333 (GRCm39)	I444M	probably benign	Het
Dnah14	A	T	1: 181,443,459 (GRCm39)	I450F	possibly damaging	Het
Dpf1	T	C	7: 29,013,566 (GRCm39)	F245L	probably benign	Het
Efr3b	A	G	12: 4,032,898 (GRCm39)	V269A	probably benign	Het
Eprs1	G	T	1: 185,126,653 (GRCm39)	V530L	possibly damaging	Het
Eps8l2	A	G	7: 140,922,860 (GRCm39)	N41S	probably damaging	Het
Erbb4	T	C	1: 68,435,470 (GRCm39)	I142M	probably damaging	Het
Fhip1a	T	C	3: 85,637,868 (GRCm39)	M144V	probably damaging	Het
Flnc	A	T	6: 29,457,445 (GRCm39)	D2381V	probably damaging	Het
Fndc1	T	A	17: 7,991,362 (GRCm39)	D778V	unknown	Het
Galnt3	A	G	2: 65,921,555 (GRCm39)	I492T	probably benign	Het
Gigyf2	T	C	1: 87,374,155 (GRCm39)	M1261T	probably damaging	Het
Haus8	A	G	8: 71,708,695 (GRCm39)	F126S	probably benign	Het
Hif3a	A	G	7: 16,782,686 (GRCm39)	L293S	probably damaging	Het
Ino80c	G	A	18: 24,239,707 (GRCm39)	T200I	unknown	Het
Jag1	T	A	2: 136,943,717 (GRCm39)	M160L	probably benign	Het
Kcnj12	C	A	11: 60,960,825 (GRCm39)	H374Q	probably damaging	Het
Lrrc27	A	G	7: 138,816,902 (GRCm39)	I433M	probably benign	Het
Lyzl4	C	T	9: 121,407,160 (GRCm39)	W123*	probably null	Het
Map2k4	A	T	11: 65,597,827 (GRCm39)	C264S		Het
Mmrn1	C	T	6: 60,921,508 (GRCm39)		probably benign	Het
Mug1	C	T	6: 121,850,631 (GRCm39)	T709I	probably benign	Het
Myo9a	T	A	9: 59,781,931 (GRCm39)	W1706R	probably benign	Het
Nlrp5	A	G	7: 23,117,869 (GRCm39)	E531G	probably damaging	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Pcdhb11	A	C	18: 37,555,422 (GRCm39)	I251L	probably benign	Het
Per3	A	G	4: 151,113,270 (GRCm39)	S353P	probably damaging	Het
Piezo1	T	C	8: 123,213,750 (GRCm39)	E1738G	probably null	Het
Prr14l	T	C	5: 32,988,508 (GRCm39)	D329G	probably benign	Het
Ptpn23	G	T	9: 110,217,267 (GRCm39)	P863Q	probably damaging	Het
Ptpn23	G	T	9: 110,217,268 (GRCm39)	P863T	possibly damaging	Het
Ptprq	T	C	10: 107,479,896 (GRCm39)	K1125E	possibly damaging	Het
Rapgef2	T	G	3: 79,000,343 (GRCm39)	T351P	probably damaging	Het
Rbl2	A	G	8: 91,840,617 (GRCm39)	Y923C	probably damaging	Het
Rimbp3	T	C	16: 17,028,727 (GRCm39)	V717A	probably benign	Het
Rims1	C	T	1: 22,358,760 (GRCm39)	W182*	probably null	Het
Rnmt	A	G	18: 68,440,723 (GRCm39)	K129E	probably benign	Het
Ruvbl1	T	C	6: 88,450,108 (GRCm39)	F93S	probably damaging	Het
Scamp5	T	C	9: 57,350,969 (GRCm39)	Y231C	probably damaging	Het
Sfxn5	T	A	6: 85,244,921 (GRCm39)		probably null	Het
Skic2	A	T	17: 35,068,975 (GRCm39)	V8D	probably benign	Het
Slc12a1	T	C	2: 125,028,234 (GRCm39)	F510S	probably damaging	Het
Sowahb	T	C	5: 93,190,922 (GRCm39)	Y599C	probably damaging	Het
Speer4e1	T	C	5: 14,987,111 (GRCm39)	N98S	probably damaging	Het
Stat3	T	C	11: 100,784,807 (GRCm39)	N553S	probably benign	Het
Sult6b2	A	T	6: 142,735,868 (GRCm39)	L242Q	probably damaging	Het
Tacc3	C	T	5: 33,821,169 (GRCm39)	R98W	possibly damaging	Het
Tuba4a	C	T	1: 75,193,595 (GRCm39)	R112H		Het
Ubr3	T	A	2: 69,819,220 (GRCm39)	S1337T	probably damaging	Het
Vmn2r69	A	T	7: 85,055,713 (GRCm39)	C808*	probably null	Het
Zfp692	C	T	11: 58,198,560 (GRCm39)	S50L	probably damaging	Het

Other mutations in Wnt16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00488:Wnt16	APN	6	22,291,012 (GRCm39)	missense	probably damaging	1.00
IGL01306:Wnt16	APN	6	22,297,934 (GRCm39)	missense	probably damaging	0.99
IGL02297:Wnt16	APN	6	22,297,990 (GRCm39)	nonsense	probably null
ANU23:Wnt16	UTSW	6	22,297,934 (GRCm39)	missense	probably damaging	0.99
R0320:Wnt16	UTSW	6	22,297,992 (GRCm39)	missense	possibly damaging	0.68
R1671:Wnt16	UTSW	6	22,298,178 (GRCm39)	missense	probably damaging	1.00
R2342:Wnt16	UTSW	6	22,288,923 (GRCm39)	missense	probably damaging	1.00
R3437:Wnt16	UTSW	6	22,298,133 (GRCm39)	missense	probably damaging	0.99
R3786:Wnt16	UTSW	6	22,298,021 (GRCm39)	missense	probably benign
R5301:Wnt16	UTSW	6	22,297,848 (GRCm39)	missense	probably damaging	0.99
R5357:Wnt16	UTSW	6	22,291,231 (GRCm39)	intron	probably benign
R5468:Wnt16	UTSW	6	22,291,160 (GRCm39)	missense	probably benign	0.00
R5843:Wnt16	UTSW	6	22,290,947 (GRCm39)	missense	probably damaging	0.99
R6655:Wnt16	UTSW	6	22,290,965 (GRCm39)	missense	probably damaging	1.00
R6731:Wnt16	UTSW	6	22,297,891 (GRCm39)	nonsense	probably null
R6988:Wnt16	UTSW	6	22,288,510 (GRCm39)	missense	probably damaging	1.00
R7437:Wnt16	UTSW	6	22,288,560 (GRCm39)	missense	probably benign	0.17
R7904:Wnt16	UTSW	6	22,297,989 (GRCm39)	missense	probably damaging	1.00
R7919:Wnt16	UTSW	6	22,291,049 (GRCm39)	missense	probably benign	0.01
R7940:Wnt16	UTSW	6	22,291,188 (GRCm39)	missense	possibly damaging	0.78
R9057:Wnt16	UTSW	6	22,288,823 (GRCm39)	missense	probably damaging	1.00
R9195:Wnt16	UTSW	6	22,297,932 (GRCm39)	missense	probably benign	0.00
R9618:Wnt16	UTSW	6	22,297,892 (GRCm39)	nonsense	probably null
R9618:Wnt16	UTSW	6	22,297,891 (GRCm39)	nonsense	probably null
R9781:Wnt16	UTSW	6	22,291,114 (GRCm39)	missense	probably damaging	1.00
Z1177:Wnt16	UTSW	6	22,288,587 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTTACAGGTGGTTGGGCATC -3'
(R):5'- TTCTGTAGATCTCGGACGTCCC -3'

Sequencing Primer
(F):5'- ATCGCCTCTTTCGGGGTAC -3'
(R):5'- CTGCACACTGGGGGCTG -3'

Posted On

2020-06-30