Mutagenetix > Incidental Mutation

Incidental Mutation 'R4482:Wmp'

331484

Institutional Source

Beutler Lab

Gene Symbol

Wmp

Ensembl Gene

ENSMUSG00000073006

Gene Name

WAVE homology in membrane protrusions

Synonyms

Gm732, Whimp

MMRRC Submission

041738-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R4482 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

106989341-106992042 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106990237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 225 (L225F)

Ref Sequence

ENSEMBL: ENSMUSP00000098848 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101290] [ENSMUST00000155294]

AlphaFold

Q3V0P9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101290
AA Change: L225F

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000098848
Gene: ENSMUSG00000073006
AA Change: L225F

Domain	Start	End	E-Value	Type
low complexity region	203	219	N/A	INTRINSIC
low complexity region	306	323	N/A	INTRINSIC
low complexity region	411	429	N/A	INTRINSIC
WH2	461	478	1.7e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000155294

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	A	G	11: 3,845,008 (GRCm39)	V27A	possibly damaging	Het
Actn3	A	T	19: 4,913,436 (GRCm39)		probably null	Het
Adamts20	T	C	15: 94,243,801 (GRCm39)	Y642C	probably damaging	Het
Ankrd11	T	C	8: 123,620,228 (GRCm39)	D1187G	probably damaging	Het
Bag4	T	C	8: 26,275,072 (GRCm39)		probably benign	Het
Bsn	C	A	9: 107,991,863 (GRCm39)	K1296N	probably damaging	Het
Cct5	T	C	15: 31,597,715 (GRCm39)	D58G	probably damaging	Het
Cyp4a10	T	C	4: 115,389,795 (GRCm39)	F467L	probably damaging	Het
Dicer1	A	G	12: 104,672,536 (GRCm39)	Y904H	probably damaging	Het
Fbn1	A	T	2: 125,205,530 (GRCm39)		probably null	Het
Fhip1b	A	T	7: 105,038,881 (GRCm39)	F119L	probably benign	Het
Git1	T	A	11: 77,391,333 (GRCm39)	Y189N	possibly damaging	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Itga6	T	A	2: 71,686,259 (GRCm39)	I1059N	probably damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kbtbd3	A	T	9: 4,331,051 (GRCm39)	Y475F	probably damaging	Het
Map3k6	T	C	4: 132,970,710 (GRCm39)	I199T	probably benign	Het
Mtmr7	T	C	8: 41,007,425 (GRCm39)	M503V	probably benign	Het
Muc4	A	G	16: 32,577,075 (GRCm39)	T2192A	unknown	Het
Nexn	T	C	3: 151,948,390 (GRCm39)	E391G	probably damaging	Het
Or5h22	G	T	16: 58,895,286 (GRCm39)	H52Q	probably benign	Het
Parg	A	G	14: 31,984,731 (GRCm39)	I254V	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pomt2	G	A	12: 87,178,604 (GRCm39)	P290S	probably benign	Het
Rasl10a	T	A	11: 5,008,429 (GRCm39)	Y42N	probably damaging	Het
Slc4a8	C	A	15: 100,708,480 (GRCm39)	F871L	probably damaging	Het
Tdrd9	T	C	12: 111,980,935 (GRCm39)		probably null	Het
Trim21	G	A	7: 102,213,140 (GRCm39)	Q53*	probably null	Het
Triobp	T	C	15: 78,850,763 (GRCm39)	S306P	possibly damaging	Het
Vasn	A	T	16: 4,466,190 (GRCm39)	T46S	possibly damaging	Het
Zfp236	A	T	18: 82,662,346 (GRCm39)	F529Y	probably benign	Het

Other mutations in Wmp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00668:Wmp	APN	X	106,990,802 (GRCm39)	missense	possibly damaging	0.94
IGL00928:Wmp	APN	X	106,989,449 (GRCm39)	missense	possibly damaging	0.87
X0010:Wmp	UTSW	X	106,990,406 (GRCm39)	missense	probably benign	0.00
X0011:Wmp	UTSW	X	106,989,455 (GRCm39)	missense	possibly damaging	0.95
Z1176:Wmp	UTSW	X	106,989,431 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- CCACAATTGAATCCCATGACTG -3'
(R):5'- TGCTTAGGCAAGGACCAACTC -3'

Sequencing Primer
(F):5'- ACCCTGTGGATTTAGACC -3'
(R):5'- CTCTGGCTCATTACAAATCCAATG -3'

Posted On

2015-07-21