Mutagenetix > Incidental Mutation

Incidental Mutation 'R0557:Wnt5b'

45624

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

038749-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0557 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119409492-119521308 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 119410779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 220 (H220Q)

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: H220Q

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

SMART Domains

Protein: ENSMUSP00000113188
Gene: ENSMUSG00000030170
AA Change: H220Q

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: H182Q

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

SMART Domains

Protein: ENSMUSP00000112819
Gene: ENSMUSG00000030170
AA Change: H182Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000119369
AA Change: H233Q

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

SMART Domains

Protein: ENSMUSP00000112448
Gene: ENSMUSG00000030170
AA Change: H233Q

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: H220Q

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

SMART Domains

Protein: ENSMUSP00000137065
Gene: ENSMUSG00000030170
AA Change: H220Q

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

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 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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	G	A	10: 78,903,519 (GRCm39)	H266Y	probably damaging	Het
Abi3bp	C	T	16: 56,488,750 (GRCm39)	R1294C	probably damaging	Het
Acot3	T	C	12: 84,105,630 (GRCm39)	Y366H	probably damaging	Het
Ago1	A	G	4: 126,353,817 (GRCm39)	V254A	probably benign	Het
Ahnak	T	A	19: 8,979,308 (GRCm39)	D197E	probably benign	Het
Aldh1b1	A	T	4: 45,802,647 (GRCm39)	T62S	probably benign	Het
Alox12e	T	C	11: 70,212,274 (GRCm39)	R135G	possibly damaging	Het
Amn1	T	C	6: 149,072,503 (GRCm39)	Y78C	possibly damaging	Het
Ankmy2	G	A	12: 36,237,765 (GRCm39)	S288N	probably benign	Het
Ano3	A	T	2: 110,693,297 (GRCm39)		probably null	Het
Arfgap3	T	C	15: 83,187,386 (GRCm39)	D491G	probably damaging	Het
Arhgap15	T	C	2: 44,006,629 (GRCm39)	S249P	possibly damaging	Het
Atp9b	A	G	18: 80,809,137 (GRCm39)	V211A	probably damaging	Het
Cabin1	A	G	10: 75,562,751 (GRCm39)	Y12H	probably damaging	Het
Cdkn2aip	T	C	8: 48,165,977 (GRCm39)	T110A	probably damaging	Het
Cemip2	C	T	19: 21,789,267 (GRCm39)	A567V	probably benign	Het
Chchd6	A	G	6: 89,551,569 (GRCm39)	S31P	probably damaging	Het
Chrna3	A	G	9: 54,923,149 (GRCm39)	Y220H	probably damaging	Het
Ctu1	A	G	7: 43,326,583 (GRCm39)	D414G	unknown	Het
Cxxc1	C	T	18: 74,351,845 (GRCm39)	R241W	possibly damaging	Het
Cyp3a16	A	G	5: 145,406,398 (GRCm39)	I18T	unknown	Het
Dip2c	A	T	13: 9,603,495 (GRCm39)	I405F	possibly damaging	Het
Disp3	A	T	4: 148,325,861 (GRCm39)	M1299K	possibly damaging	Het
Dnah9	T	G	11: 65,975,492 (GRCm39)	H1519P	probably damaging	Het
Ehd3	C	A	17: 74,136,928 (GRCm39)	Q366K	probably benign	Het
Exosc3	A	T	4: 45,316,957 (GRCm39)	M232K	probably damaging	Het
Fancm	T	C	12: 65,165,216 (GRCm39)		probably null	Het
Fgfr2	A	G	7: 129,820,811 (GRCm39)	V241A	probably damaging	Het
Gdf2	C	T	14: 33,663,178 (GRCm39)	P24L	probably damaging	Het
Hars2	T	C	18: 36,924,130 (GRCm39)	I489T	possibly damaging	Het
Ice1	T	C	13: 70,749,310 (GRCm39)	I1945V	probably benign	Het
Il33	A	C	19: 29,932,036 (GRCm39)	N143T	probably damaging	Het
Ilvbl	G	A	10: 78,419,321 (GRCm39)	W313*	probably null	Het
Insyn2a	A	G	7: 134,520,434 (GRCm39)	L32P	probably damaging	Het
Isca1	G	T	13: 59,904,788 (GRCm39)	Q91K	possibly damaging	Het
Kcnh5	T	A	12: 75,161,323 (GRCm39)	Y195F	probably damaging	Het
Lama4	T	G	10: 38,964,393 (GRCm39)	I1355S	probably benign	Het
Lonrf1	T	C	8: 36,697,574 (GRCm39)	D470G	probably benign	Het
Mak	A	G	13: 41,193,135 (GRCm39)	Y446H	probably benign	Het
Mki67	C	T	7: 135,300,990 (GRCm39)	S1348N	possibly damaging	Het
Mpzl3	A	G	9: 44,977,806 (GRCm39)	Y138C	probably damaging	Het
Myh8	T	C	11: 67,192,624 (GRCm39)	L1501P	possibly damaging	Het
Naa35	A	G	13: 59,775,778 (GRCm39)	E552G	probably damaging	Het
Ncor2	A	T	5: 125,183,369 (GRCm39)	L200*	probably null	Het
Nrm	T	C	17: 36,175,524 (GRCm39)	V210A	probably damaging	Het
Nt5e	T	A	9: 88,248,519 (GRCm39)	N405K	probably damaging	Het
Or1j4	T	A	2: 36,740,760 (GRCm39)	I234N	possibly damaging	Het
Or1o11	T	A	17: 37,756,712 (GRCm39)	I100N	probably damaging	Het
Orc2	T	C	1: 58,508,846 (GRCm39)	S434G	probably damaging	Het
Plcb4	G	A	2: 135,796,269 (GRCm39)	V388I	probably damaging	Het
Ppm1l	A	G	3: 69,405,234 (GRCm39)	D177G	probably benign	Het
Prl8a2	A	T	13: 27,536,875 (GRCm39)	R165*	probably null	Het
Ptbp3	G	A	4: 59,517,684 (GRCm39)	R66*	probably null	Het
Pten	A	G	19: 32,795,290 (GRCm39)	T286A	probably benign	Het
Rac2	C	T	15: 78,449,174 (GRCm39)	V113M	probably damaging	Het
Rai1	C	T	11: 60,081,321 (GRCm39)	T1795I	probably benign	Het
Ros1	T	G	10: 51,961,359 (GRCm39)	K1792Q	possibly damaging	Het
Sema6a	A	G	18: 47,382,567 (GRCm39)	V660A	probably benign	Het
Slc22a23	C	T	13: 34,528,366 (GRCm39)	G139S	possibly damaging	Het
Slc26a5	A	G	5: 22,024,762 (GRCm39)	S441P	probably damaging	Het
Slc27a3	A	G	3: 90,294,163 (GRCm39)	L462P	probably damaging	Het
Spag5	T	A	11: 78,205,037 (GRCm39)	S607R	probably damaging	Het
Spata18	A	T	5: 73,809,013 (GRCm39)	N29Y	probably damaging	Het
Spata20	C	T	11: 94,376,048 (GRCm39)	R22H	probably benign	Het
Spsb2	A	C	6: 124,787,355 (GRCm39)	Y263S	probably damaging	Het
Sptbn4	C	A	7: 27,107,753 (GRCm39)	E885*	probably null	Het
Syne2	T	C	12: 75,976,075 (GRCm39)	I1175T	probably benign	Het
Tmem209	A	C	6: 30,501,913 (GRCm39)	H253Q	probably damaging	Het
Trip12	A	T	1: 84,702,468 (GRCm39)	D788E	probably damaging	Het
Usp34	T	C	11: 23,353,848 (GRCm39)	S1509P	probably damaging	Het
Utp20	A	T	10: 88,584,173 (GRCm39)	D2661E	probably damaging	Het
Vars1	C	A	17: 35,223,960 (GRCm39)	P264Q	possibly damaging	Het
Vmn2r66	T	G	7: 84,643,972 (GRCm39)	S813R	probably damaging	Het
Wipf2	C	A	11: 98,782,915 (GRCm39)	Q114K	possibly damaging	Het
Xirp2	A	G	2: 67,346,695 (GRCm39)	T2979A	probably benign	Het
Zfyve9	A	G	4: 108,531,708 (GRCm39)	V408A	probably damaging	Het
Zzef1	T	C	11: 72,808,556 (GRCm39)	S2744P	probably damaging	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
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
R6478:Wnt5b	UTSW	6	119,410,751 (GRCm39)	missense	probably damaging	1.00
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'- GTCAGGACTGGGGTCCACGTA -3'
(R):5'- GAGCACCCACTGTCTCTGTCTCTAT -3'

Sequencing Primer
(F):5'- TCCACGTAGACCAGGTCCTC -3'
(R):5'- gttttgtttgtttgtttgtttgtttg -3'

Posted On

2013-06-11