Mutagenetix > Incidental Mutation

Incidental Mutation 'R0550:Whamm'

45088

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

038742-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0550 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81571266-81596836 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 81586224 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 392 (V392I)

Ref Sequence

ENSEMBL: ENSMUSP00000128881 (fasta)

Gene Model

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

AlphaFold

Q571B6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165460
AA Change: V392I

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000128881
Gene: ENSMUSG00000045795
AA Change: V392I

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

noncoding transcript
Transcript: ENSMUST00000208537

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209044
AA Change: V186I

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.0708

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 97.0%
20x: 94.2%

Validation Efficiency

99% (76/77)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,293,840	Y947N	probably damaging	Het
Acss3	C	A	10: 107,053,471	G163C	probably damaging	Het
Adcy10	A	G	1: 165,565,315	T1367A	probably benign	Het
Adcy2	A	T	13: 68,982,361	S136T	probably benign	Het
Ahdc1	G	A	4: 133,063,037	V530I	probably benign	Het
Aldh16a1	C	T	7: 45,146,229		probably null	Het
Ankrd36	T	C	11: 5,607,429		probably null	Het
Aqr	A	C	2: 114,132,976	N664K	probably damaging	Het
Atp6v1c1	T	C	15: 38,682,929		probably benign	Het
Atp8b2	C	T	3: 89,959,061		probably benign	Het
Bbx	T	C	16: 50,274,533		probably benign	Het
Bmper	T	A	9: 23,373,885	D243E	probably benign	Het
Casz1	GCCACCACCACCACCACCACCAC	GCCACCACCACCACCACCAC	4: 148,952,284		probably benign	Het
Catsperd	T	C	17: 56,663,427		probably null	Het
Ccdc92b	T	A	11: 74,629,945		probably null	Het
Cd2bp2	G	T	7: 127,193,824	T342K	probably damaging	Het
Clrn3	T	A	7: 135,528,425	I27F	possibly damaging	Het
Cnih3	TTGACGAG	T	1: 181,406,477		probably null	Het
Cntnap3	T	C	13: 64,762,000	T764A	possibly damaging	Het
Cttnbp2	T	G	6: 18,435,309	K183N	possibly damaging	Het
Cwc27	G	A	13: 104,804,949	P155L	probably damaging	Het
Dcaf10	T	C	4: 45,372,753	S389P	probably benign	Het
Ddx18	T	C	1: 121,555,375	K561E	probably benign	Het
Dkk3	A	G	7: 112,158,245	F51L	probably damaging	Het
Dnaic1	C	T	4: 41,596,274	R20*	probably null	Het
Dr1	G	A	5: 108,269,605	G6S	probably benign	Het
Dync2h1	A	T	9: 7,120,954		probably null	Het
Eif3l	A	G	15: 79,076,867	Y16C	probably damaging	Het
Epb41	A	G	4: 131,975,613	I464T	probably damaging	Het
Erc2	A	G	14: 28,271,651	K546E	possibly damaging	Het
F830045P16Rik	T	C	2: 129,463,509	D315G	probably damaging	Het
Fads6	A	G	11: 115,296,677	I64T	probably benign	Het
Fshr	T	C	17: 89,045,125	N107S	probably benign	Het
Gbp11	A	T	5: 105,343,750	N60K	probably benign	Het
Gm2a	C	T	11: 55,103,665	Q54*	probably null	Het
Hydin	A	G	8: 110,587,775	D4297G	probably benign	Het
Il6st	G	A	13: 112,475,114		probably null	Het
Inpp4b	T	A	8: 81,997,337	H499Q	probably benign	Het
Kif5c	A	G	2: 49,758,912	K956R	possibly damaging	Het
Krt74	G	A	15: 101,760,679		noncoding transcript	Het
Map3k9	A	T	12: 81,725,781	L649Q	probably damaging	Het
Mdn1	A	G	4: 32,730,479	D2871G	probably benign	Het
Mylk4	T	C	13: 32,716,666	T294A	probably benign	Het
Nbeal2	C	T	9: 110,642,158	V252I	probably benign	Het
Nectin3	A	G	16: 46,458,820	I265T	possibly damaging	Het
Olfr1065	A	T	2: 86,445,876	Y35*	probably null	Het
Olfr1109	G	T	2: 87,093,129	H89Q	probably benign	Het
Olfr1259	A	G	2: 89,943,389	I242T	probably damaging	Het
Olfr1447	A	T	19: 12,901,800		probably null	Het
Olfr181	A	G	16: 58,926,385	F62S	probably damaging	Het
Olfr554	G	A	7: 102,640,950	E235K	possibly damaging	Het
Olfr910	T	A	9: 38,539,380	C162S	probably damaging	Het
Opn1sw	A	T	6: 29,380,204	L71Q	probably damaging	Het
Pced1a	G	A	2: 130,419,633	P367S	probably benign	Het
Pkhd1	A	T	1: 20,347,223	M2568K	probably null	Het
Pla2r1	A	G	2: 60,425,350		probably null	Het
Plpp1	T	C	13: 112,834,985	I62T	probably benign	Het
Polr3g	G	A	13: 81,694,773	T41I	probably damaging	Het
Ptch2	T	C	4: 117,096,433		probably benign	Het
Sema4g	A	T	19: 44,997,665	H315L	probably benign	Het
Setd1b	G	T	5: 123,157,660	S1097I	unknown	Het
Sfxn4	A	G	19: 60,850,945		probably benign	Het
Sh3tc1	T	C	5: 35,699,784	E1237G	probably damaging	Het
Slc25a38	A	T	9: 120,123,643	N287I	probably benign	Het
Slc25a48	A	G	13: 56,448,998	T31A	probably benign	Het
Slc6a12	G	A	6: 121,356,918	V238I	probably damaging	Het
Slc8b1	A	G	5: 120,531,155		probably benign	Het
Slco4c1	A	C	1: 96,867,859	V158G	probably damaging	Het
Sptbn4	T	C	7: 27,364,378	T2208A	probably benign	Het
Srebf1	G	A	11: 60,201,676	T843I	probably benign	Het
Srl	A	G	16: 4,487,565	W101R	probably damaging	Het
St6galnac4	T	A	2: 32,594,019	C76*	probably null	Het
Tdrd3	C	A	14: 87,486,220	T290K	probably damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Trpm3	A	G	19: 22,987,812	E1547G	probably damaging	Het
Ubn1	A	G	16: 5,062,620		probably null	Het
Usp10	T	A	8: 119,947,801	I456K	probably damaging	Het
Usp6nl	A	G	2: 6,400,323		probably benign	Het
Vit	T	A	17: 78,624,793	V443E	possibly damaging	Het
Zfhx4	A	G	3: 5,400,494	K1904R	probably damaging	Het
Zfp352	A	T	4: 90,224,690	T356S	probably damaging	Het

Other mutations in Whamm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00597:Whamm	APN	7	81578266	missense	probably damaging	1.00
IGL01139:Whamm	APN	7	81595914	missense	probably damaging	1.00
IGL01870:Whamm	APN	7	81595974	missense	probably damaging	0.96
IGL03153:Whamm	APN	7	81589532	splice site	probably benign
R0179:Whamm	UTSW	7	81594015	missense	probably benign	0.00
R0364:Whamm	UTSW	7	81594051	missense	probably benign	0.00
R0682:Whamm	UTSW	7	81586138	missense	probably damaging	1.00
R1388:Whamm	UTSW	7	81586290	missense	probably damaging	1.00
R1940:Whamm	UTSW	7	81578299	missense	probably null	0.94
R1991:Whamm	UTSW	7	81591771	nonsense	probably null
R1992:Whamm	UTSW	7	81591771	nonsense	probably null
R2103:Whamm	UTSW	7	81591771	nonsense	probably null
R2104:Whamm	UTSW	7	81591771	nonsense	probably null
R2162:Whamm	UTSW	7	81571341	missense	probably damaging	1.00
R2291:Whamm	UTSW	7	81591771	nonsense	probably null
R3078:Whamm	UTSW	7	81571784	missense	probably damaging	1.00
R4735:Whamm	UTSW	7	81571374	missense	probably benign	0.01
R6336:Whamm	UTSW	7	81591764	missense	probably damaging	1.00
R6723:Whamm	UTSW	7	81596120	missense	probably damaging	1.00
R6747:Whamm	UTSW	7	81578302	critical splice donor site	probably null
R7029:Whamm	UTSW	7	81591826	missense	probably benign	0.09
R7286:Whamm	UTSW	7	81586247	missense	probably damaging	0.98
R7525:Whamm	UTSW	7	81593850	missense	probably damaging	1.00
R7732:Whamm	UTSW	7	81571424	missense	probably damaging	1.00
R8348:Whamm	UTSW	7	81574547	missense	probably damaging	0.98
R8448:Whamm	UTSW	7	81574547	missense	probably damaging	0.98
R8769:Whamm	UTSW	7	81585185	nonsense	probably null
R8890:Whamm	UTSW	7	81593892	missense	probably benign	0.39
R9226:Whamm	UTSW	7	81593907	missense	probably damaging	1.00
R9431:Whamm	UTSW	7	81586287	missense	probably damaging	1.00
R9436:Whamm	UTSW	7	81571315	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCACCCAGGACACAGTCTCATTG -3'
(R):5'- GCAAGTTGCTTTCACTAAGTGCCTC -3'

Sequencing Primer
(F):5'- GGACACAGTCTCATTGCCATTATG -3'
(R):5'- CACTAAGTGCCTCTATGTAACGGG -3'

Posted On

2013-06-11