Mutagenetix > Incidental Mutation

Incidental Mutation 'R6747:Whamm'

530586

Institutional Source

Beutler Lab

Gene Symbol

Whamm

Ensembl Gene

ENSMUSG00000045795

Gene Name

WAS protein homolog associated with actin, golgi membranes and microtubules

Synonyms

Whdc1

MMRRC Submission

044864-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6747 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81221014-81246584 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 81228050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146854 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165460] [ENSMUST00000207123] [ENSMUST00000209044]

AlphaFold

Q571B6

Predicted Effect

probably null
Transcript: ENSMUST00000165460

SMART Domains

Protein: ENSMUSP00000128881
Gene: ENSMUSG00000045795

Domain	Start	End	E-Value	Type
Pfam:WHAMM-JMY_N	5	54	1.1e-30	PFAM
Pfam:JMY	67	435	1.3e-157	PFAM
coiled coil region	448	470	N/A	INTRINSIC
low complexity region	509	522	N/A	INTRINSIC
low complexity region	631	656	N/A	INTRINSIC
WH2	698	716	5.69e2	SMART
WH2	728	745	6.26e-2	SMART
coiled coil region	758	785	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207123

Predicted Effect

probably null
Transcript: ENSMUST00000209044

Meta Mutation Damage Score

0.9596

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

97% (68/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that plays a role in actin nucleation, Golgi membrane association and microtubule binding. The encoded protein is a nucleation-promoting factor that regulates the Actin-related protein 2/3 complex. The activated complex initiates growth of new actin filaments by binding to existing actin filaments. The encoded protein also functions in regulation of transport from the endoplasmic reticulum to the Golgi complex and in maintenance of the Golgi complex near the centrosome. Four pseudogenes of this gene are present on the same arm of chromosome 15 as this gene. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	T	3: 121,919,962 (GRCm39)		probably null	Het
Acyp1	C	T	12: 85,325,679 (GRCm39)	V107I	probably null	Het
Aftph	T	C	11: 20,676,144 (GRCm39)		probably null	Het
Agtpbp1	A	T	13: 59,692,167 (GRCm39)		probably null	Het
Arhgap15	C	A	2: 44,006,689 (GRCm39)	P269T	probably damaging	Het
Arhgap30	T	C	1: 171,235,297 (GRCm39)	V557A	probably damaging	Het
Asb3	T	A	11: 31,031,493 (GRCm39)	M410K	probably benign	Het
B4galnt2	T	C	11: 95,759,460 (GRCm39)		probably null	Het
Birc2	A	G	9: 7,860,262 (GRCm39)		probably null	Het
Cav2	A	T	6: 17,286,950 (GRCm39)	N69Y	probably damaging	Het
Cc2d2b	G	A	19: 40,784,111 (GRCm39)	C826Y	probably benign	Het
Cenpf	T	A	1: 189,385,051 (GRCm39)	T2410S	probably benign	Het
Chchd1	A	G	14: 20,753,448 (GRCm39)	D24G	probably benign	Het
Cmip	G	A	8: 118,163,618 (GRCm39)	G450S	probably benign	Het
Col11a1	C	T	3: 114,006,099 (GRCm39)	Q534*	probably null	Het
Col3a1	G	T	1: 45,377,782 (GRCm39)		probably benign	Het
Cox4i1	T	C	8: 121,399,969 (GRCm39)	I31T	possibly damaging	Het
Cstf3	G	T	2: 104,477,112 (GRCm39)	V168F	probably damaging	Het
Dapk1	T	C	13: 60,873,154 (GRCm39)	I352T	probably benign	Het
Ddx52	T	C	11: 83,846,128 (GRCm39)	V456A	probably damaging	Het
Dmxl2	A	T	9: 54,323,372 (GRCm39)	H1337Q	probably damaging	Het
Dnah7a	T	C	1: 53,675,221 (GRCm39)	T369A	probably benign	Het
Dppa1	T	A	11: 46,516,422 (GRCm39)	I8F	unknown	Het
Ebf1	G	T	11: 44,774,641 (GRCm39)	V213F	probably damaging	Het
Foxb2	C	A	19: 16,850,197 (GRCm39)	E270*	probably null	Het
Gclc	A	T	9: 77,695,527 (GRCm39)	R450W	probably damaging	Het
Grin2d	T	C	7: 45,511,692 (GRCm39)	E251G	probably damaging	Het
Hal	A	T	10: 93,336,539 (GRCm39)	N423Y	probably damaging	Het
Krtap4-8	T	A	11: 99,670,917 (GRCm39)	I185F	unknown	Het
Lrp3	T	A	7: 34,910,862 (GRCm39)	Q61L	probably benign	Het
Met	A	C	6: 17,571,466 (GRCm39)	Q1296H	probably damaging	Het
Mphosph9	T	A	5: 124,435,762 (GRCm39)	N557I	possibly damaging	Het
Mrpl46	C	A	7: 78,432,729 (GRCm39)	W16C	probably benign	Het
Myh13	G	A	11: 67,241,245 (GRCm39)	R874Q	probably damaging	Het
Nelfb	G	A	2: 25,093,393 (GRCm39)	T453I	probably benign	Het
Nos2	A	G	11: 78,843,780 (GRCm39)	D909G	probably damaging	Het
Nr5a2	T	C	1: 136,810,082 (GRCm39)	E431G	possibly damaging	Het
Nsmce2	A	G	15: 59,463,573 (GRCm39)	D149G	probably benign	Het
Or52b1	C	T	7: 104,979,234 (GRCm39)	R55H	probably benign	Het
Or5ac21	T	C	16: 59,124,004 (GRCm39)	F164L	probably benign	Het
Pcbp4	C	A	9: 106,337,847 (GRCm39)		probably null	Het
Peg10	A	G	6: 4,757,137 (GRCm39)		probably benign	Het
Pms2	C	T	5: 143,862,237 (GRCm39)	P154L	probably benign	Het
Pou6f2	A	C	13: 18,303,772 (GRCm39)	L112R	probably benign	Het
Pramel30	T	C	4: 144,059,548 (GRCm39)	W420R	probably benign	Het
Prdm6	A	T	18: 53,598,118 (GRCm39)		probably benign	Het
Prob1	G	A	18: 35,788,207 (GRCm39)	R12W	probably damaging	Het
Rif1	T	A	2: 51,968,275 (GRCm39)		probably null	Het
Rpl9-ps6	A	G	19: 32,443,543 (GRCm39)	S137P	probably benign	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Sec23ip	A	G	7: 128,354,573 (GRCm39)		silent	Het
Slc38a9	T	C	13: 112,826,714 (GRCm39)	C151R	probably benign	Het
Slc39a8	T	C	3: 135,554,941 (GRCm39)		probably null	Het
Slc6a18	C	A	13: 73,826,110 (GRCm39)		probably benign	Het
Snw1	T	C	12: 87,511,480 (GRCm39)	D57G	probably damaging	Het
Sox6	C	G	7: 115,140,966 (GRCm39)	R505P	probably damaging	Het
Speg	T	C	1: 75,387,039 (GRCm39)		probably null	Het
Spire2	C	T	8: 124,083,585 (GRCm39)	R190C	probably damaging	Het
Stard9	A	C	2: 120,528,864 (GRCm39)	H1707P	possibly damaging	Het
Tenm3	G	T	8: 48,796,278 (GRCm39)	T237K	probably damaging	Het
Themis2	T	A	4: 132,523,573 (GRCm39)	E31V	possibly damaging	Het
Trim56	T	G	5: 137,143,375 (GRCm39)	Q47P	probably damaging	Het
Trim58	T	C	11: 58,542,090 (GRCm39)	I350T	probably benign	Het
Ttll7	C	T	3: 146,649,811 (GRCm39)	P639S	probably benign	Het
Ubxn6	A	G	17: 56,377,650 (GRCm39)		probably null	Het
Vmn2r114	A	T	17: 23,528,850 (GRCm39)	F417L	probably benign	Het
Vmn2r29	T	A	7: 7,234,421 (GRCm39)	M822L	probably benign	Het
Vps9d1	T	C	8: 123,980,746 (GRCm39)	D27G	probably damaging	Het
Wdr3	C	T	3: 100,046,040 (GRCm39)	R931Q	probably damaging	Het
Zcchc24	T	C	14: 25,757,457 (GRCm39)	H142R	probably damaging	Het
Zfp292	T	C	4: 34,806,894 (GRCm39)	K2050R	probably damaging	Het

Other mutations in Whamm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00597:Whamm	APN	7	81,228,014 (GRCm39)	missense	probably damaging	1.00
IGL01139:Whamm	APN	7	81,245,662 (GRCm39)	missense	probably damaging	1.00
IGL01870:Whamm	APN	7	81,245,722 (GRCm39)	missense	probably damaging	0.96
IGL03153:Whamm	APN	7	81,239,280 (GRCm39)	splice site	probably benign
R0179:Whamm	UTSW	7	81,243,763 (GRCm39)	missense	probably benign	0.00
R0364:Whamm	UTSW	7	81,243,799 (GRCm39)	missense	probably benign	0.00
R0550:Whamm	UTSW	7	81,235,972 (GRCm39)	missense	possibly damaging	0.55
R0682:Whamm	UTSW	7	81,235,886 (GRCm39)	missense	probably damaging	1.00
R1388:Whamm	UTSW	7	81,236,038 (GRCm39)	missense	probably damaging	1.00
R1940:Whamm	UTSW	7	81,228,047 (GRCm39)	missense	probably null	0.94
R1991:Whamm	UTSW	7	81,241,519 (GRCm39)	nonsense	probably null
R1992:Whamm	UTSW	7	81,241,519 (GRCm39)	nonsense	probably null
R2103:Whamm	UTSW	7	81,241,519 (GRCm39)	nonsense	probably null
R2104:Whamm	UTSW	7	81,241,519 (GRCm39)	nonsense	probably null
R2162:Whamm	UTSW	7	81,221,089 (GRCm39)	missense	probably damaging	1.00
R2291:Whamm	UTSW	7	81,241,519 (GRCm39)	nonsense	probably null
R3078:Whamm	UTSW	7	81,221,532 (GRCm39)	missense	probably damaging	1.00
R4735:Whamm	UTSW	7	81,221,122 (GRCm39)	missense	probably benign	0.01
R6336:Whamm	UTSW	7	81,241,512 (GRCm39)	missense	probably damaging	1.00
R6723:Whamm	UTSW	7	81,245,868 (GRCm39)	missense	probably damaging	1.00
R7029:Whamm	UTSW	7	81,241,574 (GRCm39)	missense	probably benign	0.09
R7286:Whamm	UTSW	7	81,235,995 (GRCm39)	missense	probably damaging	0.98
R7525:Whamm	UTSW	7	81,243,598 (GRCm39)	missense	probably damaging	1.00
R7732:Whamm	UTSW	7	81,221,172 (GRCm39)	missense	probably damaging	1.00
R8348:Whamm	UTSW	7	81,224,295 (GRCm39)	missense	probably damaging	0.98
R8448:Whamm	UTSW	7	81,224,295 (GRCm39)	missense	probably damaging	0.98
R8769:Whamm	UTSW	7	81,234,933 (GRCm39)	nonsense	probably null
R8890:Whamm	UTSW	7	81,243,640 (GRCm39)	missense	probably benign	0.39
R9226:Whamm	UTSW	7	81,243,655 (GRCm39)	missense	probably damaging	1.00
R9431:Whamm	UTSW	7	81,236,035 (GRCm39)	missense	probably damaging	1.00
R9436:Whamm	UTSW	7	81,221,063 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GTGGTTACAGCAGTCCACAC -3'
(R):5'- ACCACTTATGATGGCTGAACAAAC -3'

Sequencing Primer
(F):5'- CAGACACTTCAGCATTTCCTAATGG -3'
(R):5'- CTTATGATGGCTGAACAAACACATC -3'

Posted On

2018-08-01