Mutagenetix > Incidental Mutation

Incidental Mutation 'R6478:Wnt5b'

516904

Institutional Source

Beutler Lab

Gene Symbol

Wnt5b

Ensembl Gene

ENSMUSG00000030170

Gene Name

wingless-type MMTV integration site family, member 5B

Synonyms

Wnt-5b

MMRRC Submission

044610-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6478 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119409492-119521308 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119410751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 230 (T230A)

Ref Sequence

ENSEMBL: ENSMUSP00000137065 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117171] [ENSMUST00000118120] [ENSMUST00000119369] [ENSMUST00000178696]

AlphaFold

P22726

Predicted Effect

probably damaging
Transcript: ENSMUST00000117171
AA Change: T230A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113188
Gene: ENSMUSG00000030170
AA Change: T230A

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
WNT1	50	359	3.47e-215	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000118120
AA Change: T192A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112819
Gene: ENSMUSG00000030170
AA Change: T192A

Domain	Start	End	E-Value	Type
WNT1	12	321	3.47e-215	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000119369
AA Change: T243A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112448
Gene: ENSMUSG00000030170
AA Change: T243A

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
WNT1	63	372	3.47e-215	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000178696
AA Change: T230A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137065
Gene: ENSMUSG00000030170
AA Change: T230A

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
WNT1	50	359	3.47e-215	SMART

Meta Mutation Damage Score

0.9275

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

95% (75/79)

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 encodes a protein which shows 94% and 80% amino acid identity to the mouse Wnt5b protein and the human WNT5A protein, respectively. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal numbers of thoracic motor neurons and proportions of motor columnar subtypes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	A	11: 119,901,817 (GRCm39)	S803C	probably benign	Het
Abcc9	C	T	6: 142,625,034 (GRCm39)	A454T	probably damaging	Het
Abr	T	C	11: 76,343,158 (GRCm39)	E565G	probably damaging	Het
Adam33	C	A	2: 130,893,266 (GRCm39)	R753L	probably benign	Het
Adgre1	A	G	17: 57,708,955 (GRCm39)	T49A	possibly damaging	Het
Ankra2	A	T	13: 98,404,950 (GRCm39)	H153L	probably damaging	Het
Ankrd26	T	G	6: 118,488,599 (GRCm39)	E1353D	probably benign	Het
Ankrd52	T	G	10: 128,215,200 (GRCm39)		probably null	Het
Arhgef10l	T	A	4: 140,270,068 (GRCm39)	T619S	possibly damaging	Het
Armh4	A	G	14: 50,010,789 (GRCm39)	V306A	possibly damaging	Het
Asgr1	T	C	11: 69,947,720 (GRCm39)	V130A	possibly damaging	Het
Atg10	C	A	13: 91,085,466 (GRCm39)	C161F	probably damaging	Het
Atm	A	T	9: 53,401,554 (GRCm39)	N1438K	probably damaging	Het
BC107364	T	A	3: 96,343,322 (GRCm39)		probably null	Het
Bcar3	G	T	3: 122,220,225 (GRCm39)	A41S	probably benign	Het
Btbd6	A	G	12: 112,940,932 (GRCm39)		probably benign	Het
Cchcr1	A	G	17: 35,835,600 (GRCm39)	T318A	possibly damaging	Het
Celsr1	A	T	15: 85,809,719 (GRCm39)	I2221N	probably damaging	Het
Cept1	C	T	3: 106,440,761 (GRCm39)	W48*	probably null	Het
Cfap161	T	A	7: 83,442,484 (GRCm39)	I85L	probably benign	Het
Clasp1	A	T	1: 118,439,910 (GRCm39)	R640*	probably null	Het
Col5a1	T	A	2: 27,842,448 (GRCm39)	I441N	unknown	Het
Col9a1	C	A	1: 24,224,486 (GRCm39)	L223I	unknown	Het
Dnah2	T	C	11: 69,406,836 (GRCm39)	D223G	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dpy19l1	A	T	9: 24,361,992 (GRCm39)	M129K	possibly damaging	Het
Ecpas	A	T	4: 58,810,785 (GRCm39)	I1524N	probably damaging	Het
Fcgbpl1	C	G	7: 27,854,798 (GRCm39)	P1808R	probably damaging	Het
Fcrl1	C	A	3: 87,296,946 (GRCm39)	H318Q	probably benign	Het
Fer1l5	A	G	1: 36,441,612 (GRCm39)	N609S	probably damaging	Het
Fkbp4	C	T	6: 128,410,194 (GRCm39)	E256K	probably damaging	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Glrx	G	A	13: 75,995,418 (GRCm39)		probably null	Het
Gm7356	A	T	17: 14,221,726 (GRCm39)	M101K	probably damaging	Het
Gstp2	A	T	19: 4,090,499 (GRCm39)	I162N	probably benign	Het
Hectd3	A	C	4: 116,856,783 (GRCm39)	K443N	probably damaging	Het
Hmcn1	T	A	1: 150,540,535 (GRCm39)	R2925W	probably damaging	Het
Hspa1a	G	T	17: 35,189,282 (GRCm39)	N540K	probably damaging	Het
Ints6	A	T	14: 62,938,235 (GRCm39)	M649K	probably benign	Het
Katnb1	T	C	8: 95,822,084 (GRCm39)	V270A	possibly damaging	Het
Kctd3	A	G	1: 188,704,561 (GRCm39)	S737P	probably benign	Het
Klra10	T	C	6: 130,249,507 (GRCm39)		probably null	Het
Lmtk3	A	G	7: 45,448,013 (GRCm39)	D1353G	unknown	Het
Lrrk1	A	G	7: 65,912,481 (GRCm39)	V1693A	probably damaging	Het
Mpnd	A	T	17: 56,316,575 (GRCm39)	I85F	probably damaging	Het
Myo3b	A	G	2: 70,179,304 (GRCm39)	T1173A	probably benign	Het
Myof	G	A	19: 37,892,279 (GRCm39)	P1158L	probably damaging	Het
Naip2	A	C	13: 100,298,549 (GRCm39)	S496A	probably benign	Het
Ncor2	A	G	5: 125,187,069 (GRCm39)		probably benign	Het
Npepps	C	T	11: 97,149,099 (GRCm39)		probably null	Het
Opn5	T	A	17: 42,891,640 (GRCm39)	I266F	probably benign	Het
Or4a74	T	G	2: 89,439,790 (GRCm39)	I219L	probably damaging	Het
P2rx4	A	G	5: 122,845,763 (GRCm39)	D16G	probably damaging	Het
Padi2	G	T	4: 140,644,948 (GRCm39)	V61L	probably benign	Het
Pkd1l1	G	A	11: 8,813,911 (GRCm39)	T1480I	probably benign	Het
Plcb1	T	C	2: 135,177,371 (GRCm39)	S568P	probably damaging	Het
Rassf10	A	G	7: 112,554,914 (GRCm39)	E505G	probably damaging	Het
Rcan2	A	G	17: 44,147,225 (GRCm39)	E21G	probably benign	Het
Rhob	G	T	12: 8,549,585 (GRCm39)	C16*	probably null	Het
Ryr3	T	C	2: 112,490,413 (GRCm39)	N3807S	probably damaging	Het
Sass6	T	A	3: 116,415,046 (GRCm39)	N519K	probably benign	Het
Slco1a8	A	T	6: 141,939,368 (GRCm39)	N208K	possibly damaging	Het
Smad9	A	T	3: 54,689,864 (GRCm39)	D28V	probably damaging	Het
Spmip8	A	T	8: 96,047,894 (GRCm39)		probably null	Het
Tex14	G	T	11: 87,405,199 (GRCm39)	G704C	probably benign	Het
Tmc3	A	G	7: 83,271,524 (GRCm39)	N892S	probably benign	Het
Tnfaip2	T	A	12: 111,412,097 (GRCm39)	L166Q	probably damaging	Het
Triml2	A	G	8: 43,638,165 (GRCm39)		probably null	Het
Trio	A	G	15: 27,856,193 (GRCm39)	V666A	probably benign	Het
Tshz2	G	T	2: 169,726,584 (GRCm39)	L393F	probably damaging	Het
Ttn	T	G	2: 76,672,115 (GRCm39)		probably benign	Het
Tubb5	A	G	17: 36,146,734 (GRCm39)	Y159H	probably damaging	Het
Umodl1	A	G	17: 31,178,129 (GRCm39)	Y35C	probably damaging	Het
Utp4	T	C	8: 107,631,078 (GRCm39)		probably null	Het
Vmn1r60	A	T	7: 5,547,864 (GRCm39)	C79S	probably damaging	Het
Zfp618	A	T	4: 63,050,943 (GRCm39)	I575F	probably damaging	Het
Zmym6	G	T	4: 127,017,176 (GRCm39)	V894L	possibly damaging	Het
Zpbp	T	C	11: 11,412,318 (GRCm39)		probably benign	Het

Other mutations in Wnt5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01590:Wnt5b	APN	6	119,417,515 (GRCm39)	missense	possibly damaging	0.70
IGL01822:Wnt5b	APN	6	119,410,433 (GRCm39)	missense	probably damaging	1.00
Blizzard	UTSW	6	119,423,319 (GRCm39)	missense	probably damaging	1.00
Invierno	UTSW	6	119,417,272 (GRCm39)	missense	probably damaging	1.00
luftmensch	UTSW	6	119,410,813 (GRCm39)	missense	probably damaging	0.97
R0557:Wnt5b	UTSW	6	119,410,779 (GRCm39)	missense	probably damaging	1.00
R0732:Wnt5b	UTSW	6	119,423,543 (GRCm39)	nonsense	probably null
R1472:Wnt5b	UTSW	6	119,410,442 (GRCm39)	missense	probably damaging	1.00
R1673:Wnt5b	UTSW	6	119,423,315 (GRCm39)	missense	probably benign	0.19
R4202:Wnt5b	UTSW	6	119,417,272 (GRCm39)	missense	probably damaging	1.00
R5100:Wnt5b	UTSW	6	119,417,449 (GRCm39)	missense	probably benign	0.20
R5264:Wnt5b	UTSW	6	119,410,813 (GRCm39)	missense	probably damaging	0.97
R5393:Wnt5b	UTSW	6	119,417,394 (GRCm39)	missense	probably damaging	1.00
R5394:Wnt5b	UTSW	6	119,417,283 (GRCm39)	missense	probably damaging	0.98
R5482:Wnt5b	UTSW	6	119,423,392 (GRCm39)	missense	probably benign	0.19
R5741:Wnt5b	UTSW	6	119,410,690 (GRCm39)	missense	probably damaging	1.00
R5902:Wnt5b	UTSW	6	119,425,199 (GRCm39)	missense	probably benign	0.00
R6005:Wnt5b	UTSW	6	119,410,615 (GRCm39)	missense	probably benign	0.04
R6061:Wnt5b	UTSW	6	119,410,603 (GRCm39)	missense	probably damaging	0.98
R6208:Wnt5b	UTSW	6	119,423,473 (GRCm39)	missense	probably damaging	1.00
R6405:Wnt5b	UTSW	6	119,410,457 (GRCm39)	missense	probably benign	0.06
R6482:Wnt5b	UTSW	6	119,410,573 (GRCm39)	missense	possibly damaging	0.88
R7047:Wnt5b	UTSW	6	119,425,217 (GRCm39)	start gained	probably benign
R7338:Wnt5b	UTSW	6	119,425,092 (GRCm39)	splice site	probably null
R8044:Wnt5b	UTSW	6	119,423,319 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGTAGTCAGGACTGGGGT -3'
(R):5'- ACAACTTTTGAAGATGATATTTGGGA -3'

Sequencing Primer
(F):5'- TCCACGTAGACCAGGTCCTCTG -3'
(R):5'- TCGAACTCAGATTGTCAGGC -3'

Posted On

2018-05-21