Mutagenetix > Incidental Mutation

Incidental Mutation 'R6988:Wnt16'

543077

Institutional Source

Beutler Lab

Gene Symbol

Wnt16

Ensembl Gene

ENSMUSG00000029671

Gene Name

wingless-type MMTV integration site family, member 16

Synonyms

E130309I19Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6988 (G1)

Quality Score

223.009

Status

Not validated

Chromosome

Chromosomal Location

22288226-22298521 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22288510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 2 (D2G)

Ref Sequence

ENSEMBL: ENSMUSP00000135016 (fasta)

Gene Model

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

AlphaFold

Q9QYS1

Predicted Effect

probably damaging
Transcript: ENSMUST00000031681
AA Change: D2G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031681
Gene: ENSMUSG00000029671
AA Change: D2G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000128245
AA Change: D2G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134822
Gene: ENSMUSG00000029671
AA Change: D2G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000148639
AA Change: D2G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135016
Gene: ENSMUSG00000029671
AA Change: D2G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	T	G	4: 137,181,890 (GRCm39)	L15W	probably damaging	Het
4930550C14Rik	G	A	9: 53,323,056 (GRCm39)	V31I	possibly damaging	Het
Aadacl4fm4	A	G	4: 144,412,895 (GRCm39)	F15S	probably benign	Het
Adgre1	C	T	17: 57,715,445 (GRCm39)	S255F	probably benign	Het
Aff4	T	G	11: 53,289,064 (GRCm39)	S404R	probably damaging	Het
Akr1c19	A	T	13: 4,283,757 (GRCm39)		probably benign	Het
Ankrd31	T	A	13: 97,014,757 (GRCm39)	I1342K	probably damaging	Het
Arhgap5	T	A	12: 52,564,908 (GRCm39)	D626E	possibly damaging	Het
Arhgef1	G	A	7: 24,616,348 (GRCm39)	V332I	probably benign	Het
AY358078	A	G	14: 52,063,644 (GRCm39)	E430G	probably damaging	Het
B4gat1	T	A	19: 5,090,462 (GRCm39)	I395N	probably benign	Het
Bub1b	T	A	2: 118,467,311 (GRCm39)	I878N	probably damaging	Het
Ccdc150	C	T	1: 54,394,868 (GRCm39)	Q745*	probably null	Het
Ccl19	A	T	4: 42,754,885 (GRCm39)	I87N	probably damaging	Het
Ces2g	G	C	8: 105,690,540 (GRCm39)	G107A	probably benign	Het
Chpt1	A	G	10: 88,324,268 (GRCm39)	V180A	probably damaging	Het
Col2a1	T	C	15: 97,902,335 (GRCm39)	T14A	unknown	Het
Dnah7a	T	C	1: 53,621,784 (GRCm39)	I1114V	possibly damaging	Het
Dnah7c	T	C	1: 46,705,373 (GRCm39)	I2462T	possibly damaging	Het
Dnah8	T	C	17: 30,862,249 (GRCm39)	F208S	probably damaging	Het
Dnhd1	A	G	7: 105,363,417 (GRCm39)	E3993G	probably damaging	Het
Erv3	C	T	2: 131,697,886 (GRCm39)	D158N	possibly damaging	Het
Exoc6	T	A	19: 37,597,539 (GRCm39)	F647I	probably damaging	Het
Fbrs	G	A	7: 127,078,680 (GRCm39)		probably benign	Het
Fgfr1op2	T	C	6: 146,491,463 (GRCm39)	F109L	probably damaging	Het
Fv1	T	C	4: 147,953,728 (GRCm39)	F98S	possibly damaging	Het
H2-M10.1	T	C	17: 36,636,484 (GRCm39)	K107E	probably benign	Het
Hspg2	A	T	4: 137,256,201 (GRCm39)	Q1436L	probably damaging	Het
Ighv1-74	T	C	12: 115,766,383 (GRCm39)	Y79C	probably damaging	Het
Kcnj1	G	A	9: 32,307,881 (GRCm39)	V102I	probably benign	Het
Mnt	C	A	11: 74,733,635 (GRCm39)		probably benign	Het
Mrpl15	T	C	1: 4,852,883 (GRCm39)	T112A	probably benign	Het
Ncdn	T	C	4: 126,640,982 (GRCm39)	D506G	probably benign	Het
Ogdh	C	T	11: 6,263,806 (GRCm39)	R81*	probably null	Het
Or6c2	T	A	10: 129,362,542 (GRCm39)	S149T	probably benign	Het
Or6c217	G	C	10: 129,738,278 (GRCm39)	F100L	probably damaging	Het
Pole	G	T	5: 110,477,449 (GRCm39)	V1863F	probably damaging	Het
Pramel5	T	C	4: 144,000,577 (GRCm39)		probably benign	Het
Rabep1	A	G	11: 70,825,363 (GRCm39)	K636E	probably damaging	Het
Rasgrf2	T	A	13: 92,033,754 (GRCm39)	Y1151F	probably benign	Het
Rrad	A	G	8: 105,357,268 (GRCm39)	V93A	probably damaging	Het
Sesn3	A	T	9: 14,221,553 (GRCm39)	R118*	probably null	Het
Slc27a3	T	C	3: 90,293,597 (GRCm39)	N596S	probably benign	Het
Snx19	C	A	9: 30,340,231 (GRCm39)	D456E	probably damaging	Het
Spata31h1	T	C	10: 82,127,733 (GRCm39)	D1759G	possibly damaging	Het
Supt20	T	C	3: 54,606,018 (GRCm39)	S35P	probably damaging	Het
Syde2	G	T	3: 145,725,564 (GRCm39)	R885L	probably benign	Het
Synm	G	A	7: 67,383,406 (GRCm39)	L1419F	probably damaging	Het
Tekt2	A	G	4: 126,217,236 (GRCm39)	F221L	probably benign	Het
Ticam1	C	T	17: 56,576,900 (GRCm39)	E732K	probably benign	Het
Tmem39b	A	G	4: 129,586,941 (GRCm39)	I90T	possibly damaging	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Trib2	A	G	12: 15,865,339 (GRCm39)	S79P	probably damaging	Het
Usp32	T	C	11: 84,900,969 (GRCm39)	M1084V	probably benign	Het
Vmn1r181	T	C	7: 23,684,272 (GRCm39)	F246L	probably damaging	Het
Zfp462	A	G	4: 55,080,716 (GRCm39)	E1357G	probably benign	Het
Zhx3	A	G	2: 160,621,788 (GRCm39)	M793T	probably benign	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
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'- CTTATCTTGCCTAGGGGACTGC -3'
(R):5'- AAGCATTAGGTCAGCGTTCC -3'

Sequencing Primer
(F):5'- CCTAGGGGACTGCTGATAGTC -3'
(R):5'- CATTAGGTCAGCGTTCCTAGGGTC -3'

Posted On

2018-11-28