Mutagenetix > Incidental Mutation

Incidental Mutation 'R0320:Wnt16'

38280

Institutional Source

Beutler Lab

Gene Symbol

Wnt16

Ensembl Gene

ENSMUSG00000029671

Gene Name

wingless-type MMTV integration site family, member 16

Synonyms

E130309I19Rik

MMRRC Submission

038530-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0320 (G1)

Quality Score

159

Status

Validated

Chromosome

Chromosomal Location

22288226-22298521 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 22297992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 286 (V286G)

Ref Sequence

ENSEMBL: ENSMUSP00000031681 (fasta)

Gene Model

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

AlphaFold

Q9QYS1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031681
AA Change: V286G

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000031681
Gene: ENSMUSG00000029671
AA Change: V286G

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

SMART Domains

Protein: ENSMUSP00000134822
Gene: ENSMUSG00000029671

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

SMART Domains

Protein: ENSMUSP00000135016
Gene: ENSMUSG00000029671

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

Meta Mutation Damage Score

0.2726

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

100% (71/71)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,384,571 (GRCm39)	T465A	probably benign	Het
A430110L20Rik	T	G	1: 181,054,987 (GRCm39)		noncoding transcript	Het
Aadacl4fm1	A	T	4: 144,248,990 (GRCm39)	H119L	probably damaging	Het
Abcb10	C	T	8: 124,689,746 (GRCm39)	R439Q	probably benign	Het
Abcb8	T	C	5: 24,605,788 (GRCm39)	S199P	probably damaging	Het
Adam8	C	A	7: 139,566,355 (GRCm39)	C556F	probably damaging	Het
Akap11	T	C	14: 78,750,819 (GRCm39)	T523A	probably benign	Het
Aldh3b1	T	C	19: 3,968,999 (GRCm39)		probably benign	Het
Arhgap30	T	A	1: 171,231,372 (GRCm39)	W230R	possibly damaging	Het
Atp8b4	A	G	2: 126,301,614 (GRCm39)	I82T	possibly damaging	Het
Bptf	A	T	11: 106,963,645 (GRCm39)	L1850I	probably damaging	Het
C4b	C	A	17: 34,952,135 (GRCm39)	V1237L	probably benign	Het
Calu	C	A	6: 29,374,550 (GRCm39)		probably benign	Het
Cit	C	A	5: 116,117,504 (GRCm39)	L1227M	possibly damaging	Het
Col4a1	C	T	8: 11,292,782 (GRCm39)		probably null	Het
Cp	T	C	3: 20,029,012 (GRCm39)		probably benign	Het
Cpd	T	C	11: 76,731,273 (GRCm39)	D311G	possibly damaging	Het
Ctc1	T	A	11: 68,924,363 (GRCm39)	S972T	probably damaging	Het
Dnah17	A	G	11: 117,943,500 (GRCm39)	F3201L	possibly damaging	Het
Dop1b	C	A	16: 93,607,035 (GRCm39)	R2113S	probably benign	Het
Dym	T	A	18: 75,332,333 (GRCm39)	D520E	probably damaging	Het
Eif5a	G	T	11: 69,808,305 (GRCm39)	T64K	probably benign	Het
Flt3	A	T	5: 147,306,389 (GRCm39)		probably benign	Het
Ints6	A	T	14: 62,945,084 (GRCm39)	Y415*	probably null	Het
Itga1	A	G	13: 115,114,130 (GRCm39)		probably benign	Het
Itgae	A	G	11: 73,021,825 (GRCm39)	H902R	possibly damaging	Het
Itprid1	T	C	6: 55,953,432 (GRCm39)	I916T	probably damaging	Het
Kdm5a	T	C	6: 120,366,581 (GRCm39)	I406T	probably benign	Het
Lmx1a	C	T	1: 167,618,973 (GRCm39)	Q111*	probably null	Het
Lrrc25	T	C	8: 71,070,896 (GRCm39)	Y226H	probably benign	Het
Mcam	T	A	9: 44,051,483 (GRCm39)	N447K	possibly damaging	Het
Mcm10	A	T	2: 5,008,897 (GRCm39)	D357E	probably benign	Het
Nrip1	T	C	16: 76,089,251 (GRCm39)	T769A	probably benign	Het
Ofcc1	G	C	13: 40,360,172 (GRCm39)	Q286E	probably benign	Het
Or1e23	T	G	11: 73,407,750 (GRCm39)	I92L	probably damaging	Het
Or56b35	A	T	7: 104,963,861 (GRCm39)	I217F	probably benign	Het
Parp3	T	A	9: 106,353,011 (GRCm39)	N55I	possibly damaging	Het
Parp4	T	C	14: 56,825,953 (GRCm39)		probably null	Het
Pilrb1	G	A	5: 137,853,260 (GRCm39)	T181I	probably benign	Het
Ppm1n	A	G	7: 19,012,281 (GRCm39)	V317A	probably damaging	Het
Prdm2	A	T	4: 142,905,921 (GRCm39)	F55L	probably damaging	Het
Psd2	C	T	18: 36,112,697 (GRCm39)	R131C	probably damaging	Het
Ralgps1	A	T	2: 33,031,027 (GRCm39)	C570S	possibly damaging	Het
Scaf8	T	C	17: 3,228,530 (GRCm39)	S443P	unknown	Het
Setd5	A	G	6: 113,088,442 (GRCm39)	K190R	probably damaging	Het
Spsb4	T	A	9: 96,878,161 (GRCm39)	H54L	probably damaging	Het
St7l	T	A	3: 104,778,229 (GRCm39)	L122*	probably null	Het
Stom	C	T	2: 35,211,646 (GRCm39)	R125H	probably damaging	Het
Tigd4	T	A	3: 84,502,481 (GRCm39)	V466E	probably benign	Het
Tmc3	A	C	7: 83,257,027 (GRCm39)		probably benign	Het
Vcl	C	T	14: 21,035,692 (GRCm39)		probably benign	Het
Vmn1r168	G	A	7: 23,240,767 (GRCm39)	R208H	probably benign	Het
Vmn2r75	C	A	7: 85,814,288 (GRCm39)	V402L	probably benign	Het
Vps13b	A	T	15: 35,674,974 (GRCm39)	H1698L	probably damaging	Het
Xirp1	C	A	9: 119,845,533 (GRCm39)	V1117L	probably benign	Het
Zfp788	C	T	7: 41,298,971 (GRCm39)	H536Y	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
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
R8071:Wnt16	UTSW	6	22,288,997 (GRCm39)	missense	probably benign
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'- TCCTGTGCTGTGAAAACCTGCTG -3'
(R):5'- AGGCTGGACGGAGAGGTTACTTAC -3'

Sequencing Primer
(F):5'- ACCTGCTGGAAAACTATGTCTTC -3'
(R):5'- GGACATCGGTCATACTTTCACAC -3'

Posted On

2013-05-23