Mutagenetix > Incidental Mutation

Incidental Mutation 'R2162:Whamm'

235207

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

040165-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2162 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

81221014-81246584 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81221089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 7 (D7G)

Ref Sequence

ENSEMBL: ENSMUSP00000146687 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042318] [ENSMUST00000165460] [ENSMUST00000207123] [ENSMUST00000209044]

AlphaFold

Q571B6

Predicted Effect

probably benign
Transcript: ENSMUST00000042318

SMART Domains

Protein: ENSMUSP00000047775
Gene: ENSMUSG00000038663

Domain	Start	End	E-Value	Type
low complexity region	102	121	N/A	INTRINSIC
coiled coil region	204	231	N/A	INTRINSIC
FN3	315	400	7.34e-9	SMART
FN3	412	494	2e-1	SMART
Pfam:PRY	509	558	8.6e-9	PFAM
Pfam:SPRY	564	683	2.8e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000165460
AA Change: D7G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128881
Gene: ENSMUSG00000045795
AA Change: D7G

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 damaging
Transcript: ENSMUST00000207123
AA Change: D7G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000209044

Meta Mutation Damage Score

0.1579

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (55/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	A	C	15: 94,229,339 (GRCm39)	C927G	probably damaging	Het
Afdn	T	A	17: 14,116,436 (GRCm39)	D190E	probably benign	Het
Ankrd28	T	C	14: 31,430,719 (GRCm39)	D850G	probably damaging	Het
Arhgap45	T	C	10: 79,852,813 (GRCm39)	M1T	probably null	Het
Atp6v0a4	T	G	6: 38,065,581 (GRCm39)	K128N	possibly damaging	Het
Bcat1	T	A	6: 144,955,834 (GRCm39)	D349V	probably damaging	Het
Cacna1i	T	C	15: 80,240,388 (GRCm39)	F370S	probably damaging	Het
Clca4b	T	C	3: 144,634,348 (GRCm39)	I82V	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cyfip2	T	C	11: 46,152,333 (GRCm39)	D485G	probably benign	Het
Cyp27b1	G	T	10: 126,886,929 (GRCm39)	V382L	probably damaging	Het
Dnaaf5	T	C	5: 139,167,320 (GRCm39)	V447A	possibly damaging	Het
Dpp9	A	T	17: 56,506,113 (GRCm39)	F429I	possibly damaging	Het
Eng	C	T	2: 32,569,059 (GRCm39)	R528C	probably damaging	Het
Gcn1	A	T	5: 115,730,191 (GRCm39)	Q835L	probably benign	Het
Gprc6a	CAAA	CA	10: 51,491,776 (GRCm39)		probably null	Het
Hlx	T	A	1: 184,462,889 (GRCm39)		probably null	Het
Htt	T	A	5: 34,979,062 (GRCm39)	V815D	probably benign	Het
Il36rn	G	T	2: 24,169,692 (GRCm39)	L17F	probably damaging	Het
Itga1	C	T	13: 115,167,446 (GRCm39)	V157I	probably benign	Het
Krtap19-3	T	G	16: 88,674,607 (GRCm39)	*88C	probably null	Het
Lzic	G	C	4: 149,573,185 (GRCm39)	E112D	probably null	Het
Mark2	G	C	19: 7,260,112 (GRCm39)	S111C	probably damaging	Het
Mep1b	C	T	18: 21,219,296 (GRCm39)	T150I	possibly damaging	Het
Mroh7	G	C	4: 106,557,378 (GRCm39)	S777R	probably damaging	Het
Nrxn1	G	A	17: 90,469,859 (GRCm39)	R35C	probably damaging	Het
Or12e10	T	A	2: 87,640,704 (GRCm39)	I180K	probably damaging	Het
Or51v8	T	G	7: 103,320,079 (GRCm39)	Q53P	possibly damaging	Het
Or5p69	C	A	7: 107,966,769 (GRCm39)	P24Q	probably benign	Het
Pacs2	A	G	12: 113,014,567 (GRCm39)	T243A	probably benign	Het
Pan2	A	G	10: 128,140,091 (GRCm39)	E4G	possibly damaging	Het
Pdp1	A	G	4: 11,961,123 (GRCm39)	V396A	probably damaging	Het
Pdzd7	A	G	19: 45,024,494 (GRCm39)		probably null	Het
Peg10	T	A	6: 4,755,914 (GRCm39)		probably benign	Het
Pgc	C	A	17: 48,040,236 (GRCm39)	F93L	probably null	Het
Piezo2	A	G	18: 63,214,733 (GRCm39)		probably null	Het
Pja2	T	C	17: 64,616,397 (GRCm39)	D166G	probably benign	Het
Ppp1r9b	T	C	11: 94,888,877 (GRCm39)	L97P	probably damaging	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
S100a10	T	C	3: 93,471,680 (GRCm39)	V88A	probably damaging	Het
Scn9a	T	A	2: 66,364,573 (GRCm39)	Y789F	probably damaging	Het
Slit3	A	T	11: 35,579,509 (GRCm39)	S1229C	probably null	Het
Spata31g1	A	G	4: 42,972,238 (GRCm39)	T524A	possibly damaging	Het
Sptan1	T	C	2: 29,908,588 (GRCm39)		probably benign	Het
Srrd	G	T	5: 112,490,810 (GRCm39)		probably benign	Het
Tdrd3	A	G	14: 87,718,221 (GRCm39)	T201A	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Ttll4	A	G	1: 74,725,550 (GRCm39)	K653E	probably damaging	Het
Usp43	A	G	11: 67,770,795 (GRCm39)	L613P	probably damaging	Het
Vmn1r167	T	C	7: 23,204,224 (GRCm39)	D264G	possibly damaging	Het
Zcchc17	T	C	4: 130,232,317 (GRCm39)	D62G	probably benign	Het
Zfp280d	T	A	9: 72,206,104 (GRCm39)	I62K	probably damaging	Het
Zfp445	T	G	9: 122,681,541 (GRCm39)	E800A	probably damaging	Het
Zfp516	A	G	18: 83,005,063 (GRCm39)	R656G	possibly 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
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
R6747:Whamm	UTSW	7	81,228,050 (GRCm39)	critical splice donor site	probably null
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'- AAAGACTTTCCATTGGCTTTCAC -3'
(R):5'- AGGTAGTGCTCCAGCTGCC -3'

Sequencing Primer
(F):5'- GGCTTTCACTTAACCAACTCCAG -3'
(R):5'- CCAGCTACATCCCCCGTCG -3'

Posted On

2014-10-01