Mutagenetix > Incidental Mutation

Incidental Mutation 'R4735:Whamm'

356470

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

041962-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4735 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

81221014-81246584 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81221122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 18 (D18G)

Ref Sequence

ENSEMBL: ENSMUSP00000128881 (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 benign
Transcript: ENSMUST00000165460
AA Change: D18G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000128881
Gene: ENSMUSG00000045795
AA Change: D18G

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
AA Change: D18G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000209044

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

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: 133 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,262,897 (GRCm39)	I1410N	possibly damaging	Het
9230106D20Rik	T	C	10: 19,536,001 (GRCm39)		noncoding transcript	Het
Acsf3	T	A	8: 123,508,218 (GRCm39)	I238N	probably damaging	Het
Ahctf1	T	C	1: 179,580,964 (GRCm39)	N1746S	probably benign	Het
Akap3	T	C	6: 126,842,601 (GRCm39)	S407P	probably damaging	Het
Ankfy1	T	A	11: 72,621,437 (GRCm39)	M241K	probably benign	Het
Ano7	C	A	1: 93,328,216 (GRCm39)	T622K	probably benign	Het
App	T	C	16: 84,900,202 (GRCm39)	T83A	probably damaging	Het
Arhgef28	T	A	13: 98,036,237 (GRCm39)	E1674V	probably damaging	Het
Asb2	C	A	12: 103,291,317 (GRCm39)	V489L	probably benign	Het
Atrn	T	C	2: 130,862,910 (GRCm39)	V1330A	probably benign	Het
Bltp1	T	A	3: 37,059,116 (GRCm39)	N3267K	possibly damaging	Het
Brca1	A	G	11: 101,383,001 (GRCm39)		probably null	Het
Bspry	G	A	4: 62,404,762 (GRCm39)	R186Q	probably damaging	Het
Ccdc168	A	G	1: 44,100,861 (GRCm39)	I79T	probably benign	Het
Cdkn2d	C	G	9: 21,202,185 (GRCm39)	V21L	probably benign	Het
Celsr1	T	A	15: 85,790,230 (GRCm39)		probably null	Het
Ckap4	A	G	10: 84,369,384 (GRCm39)	V116A	possibly damaging	Het
Crb3	A	G	17: 57,372,207 (GRCm39)	T85A	probably damaging	Het
Cyld	T	C	8: 89,456,278 (GRCm39)	S443P	probably damaging	Het
Cyp27a1	T	G	1: 74,776,366 (GRCm39)	V434G	possibly damaging	Het
Cyp2b13	A	G	7: 25,787,720 (GRCm39)	T339A	probably benign	Het
Dars1	A	T	1: 128,303,971 (GRCm39)	L252*	probably null	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Ddx55	T	C	5: 124,704,539 (GRCm39)	F382S	probably damaging	Het
Dmtf1l	T	A	X: 125,722,217 (GRCm39)	K296M	probably damaging	Het
Dnah7b	G	A	1: 46,106,115 (GRCm39)	R33Q	unknown	Het
Dnm2	G	T	9: 21,385,883 (GRCm39)	S302I	probably damaging	Het
Dock4	T	A	12: 40,681,525 (GRCm39)	F75I	probably benign	Het
Dpp10	T	C	1: 123,326,356 (GRCm39)	N365S	probably benign	Het
Dpy19l3	G	T	7: 35,422,146 (GRCm39)	Q236K	probably benign	Het
Dsp	T	C	13: 38,380,016 (GRCm39)	S1655P	probably damaging	Het
Ebpl	A	T	14: 61,579,567 (GRCm39)	I117N	probably damaging	Het
Edc4	T	A	8: 106,613,818 (GRCm39)	V386E	probably damaging	Het
Eif2s2	T	A	2: 154,720,467 (GRCm39)		probably null	Het
Elob	A	T	17: 24,046,562 (GRCm39)		probably null	Het
Enox2	T	C	X: 48,158,554 (GRCm39)	I71V	probably damaging	Het
Fez1	A	T	9: 36,772,141 (GRCm39)	K149*	probably null	Het
Fhip2a	A	G	19: 57,359,661 (GRCm39)	E67G	probably damaging	Het
Fign	A	G	2: 63,810,782 (GRCm39)	Y163H	probably damaging	Het
Flnc	G	A	6: 29,455,812 (GRCm39)	G2048S	probably damaging	Het
Fras1	A	G	5: 96,736,022 (GRCm39)	D539G	probably benign	Het
Frmd4b	T	C	6: 97,436,220 (GRCm39)		probably benign	Het
Gan	C	T	8: 117,920,970 (GRCm39)	T402M	probably damaging	Het
Ganc	T	A	2: 120,267,104 (GRCm39)		silent	Het
Ggt6	C	A	11: 72,327,425 (GRCm39)	R103S	probably benign	Het
Gli2	T	C	1: 118,768,052 (GRCm39)	D725G	probably damaging	Het
Gm15446	T	A	5: 110,090,818 (GRCm39)	C357S	probably damaging	Het
Gm44501	A	G	17: 40,889,810 (GRCm39)	N108S	probably benign	Het
Gm6309	A	T	5: 146,105,054 (GRCm39)	D286E	probably damaging	Het
Gm6358	G	A	16: 88,937,848 (GRCm39)	G29E	unknown	Het
Grik5	A	G	7: 24,757,713 (GRCm39)	I422T	probably damaging	Het
Grin2c	A	G	11: 115,140,422 (GRCm39)	I1232T	possibly damaging	Het
Gsg1	C	T	6: 135,214,405 (GRCm39)	R365H	possibly damaging	Het
H2-M2	A	G	17: 37,794,135 (GRCm39)	S30P	possibly damaging	Het
Hcfc2	A	G	10: 82,547,914 (GRCm39)	D302G	probably damaging	Het
Hk2	T	C	6: 82,721,955 (GRCm39)	D128G	probably benign	Het
Hmcn2	C	A	2: 31,273,787 (GRCm39)	Q1380K	probably benign	Het
Hsp90b1	G	T	10: 86,529,819 (GRCm39)	P617T	probably damaging	Het
Htr1d	A	G	4: 136,170,197 (GRCm39)	E142G	probably benign	Het
Hydin	G	A	8: 111,282,264 (GRCm39)		probably null	Het
Il1r1	T	A	1: 40,332,455 (GRCm39)	N81K	probably benign	Het
Inpp5b	T	C	4: 124,677,760 (GRCm39)	S407P	probably damaging	Het
Itpkb	T	C	1: 180,245,780 (GRCm39)	Y766H	probably damaging	Het
Lyrm2	T	A	4: 32,801,150 (GRCm39)	I65N	probably damaging	Het
Mink1	T	A	11: 70,500,086 (GRCm39)		probably null	Het
Mkrn3	C	T	7: 62,069,452 (GRCm39)	R113H	probably damaging	Het
Msx3	G	A	7: 139,627,798 (GRCm39)	A157V	probably damaging	Het
Nrxn2	T	G	19: 6,548,484 (GRCm39)	V59G	possibly damaging	Het
Nt5c3b	T	C	11: 100,331,732 (GRCm39)	T12A	probably benign	Het
Nwd2	G	A	5: 63,965,594 (GRCm39)	R1726Q	probably benign	Het
Nynrin	A	G	14: 56,107,625 (GRCm39)	T911A	probably benign	Het
Or11i1	T	A	3: 106,728,996 (GRCm39)	Y293F	probably damaging	Het
Or4p18	T	C	2: 88,233,267 (GRCm39)	T4A	probably benign	Het
Or51aa5	A	G	7: 103,167,030 (GRCm39)	I187T	possibly damaging	Het
Or51af1	C	T	7: 103,141,267 (GRCm39)	V273M	possibly damaging	Het
Or52n20	C	T	7: 104,320,200 (GRCm39)	T97I	probably benign	Het
Or5p66	A	G	7: 107,885,520 (GRCm39)	M271T	probably benign	Het
Or6c212	A	G	10: 129,558,792 (GRCm39)	I207T	probably benign	Het
Patl1	G	T	19: 11,899,869 (GRCm39)	M220I	probably benign	Het
Pcnx2	A	T	8: 126,554,780 (GRCm39)		probably null	Het
Pigr	A	T	1: 130,774,291 (GRCm39)	T424S	probably damaging	Het
Pik3c2b	T	A	1: 132,994,787 (GRCm39)	D250E	probably benign	Het
Ppa2	G	A	3: 133,076,186 (GRCm39)	E272K	probably benign	Het
Pramel7	G	A	2: 87,321,187 (GRCm39)	Q283*	probably null	Het
Prelid3b	A	G	2: 174,307,683 (GRCm39)	I81T	probably benign	Het
Prpf38a	T	C	4: 108,436,242 (GRCm39)	I24V	possibly damaging	Het
Ptger2	A	G	14: 45,239,295 (GRCm39)	D311G	possibly damaging	Het
Rab4b	A	T	7: 26,872,191 (GRCm39)		probably benign	Het
Rad17	A	C	13: 100,755,637 (GRCm39)	D581E	probably damaging	Het
Samd11	T	C	4: 156,333,230 (GRCm39)	T333A	probably benign	Het
Scaf4	C	T	16: 90,049,320 (GRCm39)	D256N	unknown	Het
Serinc2	A	G	4: 130,157,438 (GRCm39)	F82L	probably benign	Het
Serpina3g	T	A	12: 104,205,372 (GRCm39)	V37E	probably damaging	Het
Serpinb9c	T	A	13: 33,334,254 (GRCm39)	M263L	probably benign	Het
Shbg	A	G	11: 69,508,326 (GRCm39)	I67T	possibly damaging	Het
Slc25a48	G	A	13: 56,596,887 (GRCm39)		probably null	Het
Slc25a54	T	C	3: 109,005,923 (GRCm39)	W144R	probably damaging	Het
Slc34a1	A	T	13: 55,561,397 (GRCm39)	T621S	probably benign	Het
Slc6a18	A	T	13: 73,814,554 (GRCm39)	C419S	probably benign	Het
Smc5	A	T	19: 23,220,069 (GRCm39)	D389E	probably benign	Het
Smco3	T	A	6: 136,808,636 (GRCm39)	E79D	probably damaging	Het
Sox5	A	G	6: 143,906,561 (GRCm39)	F298S	probably damaging	Het
Sphkap	A	G	1: 83,256,838 (GRCm39)	S304P	probably benign	Het
Tcea2	C	T	2: 181,328,514 (GRCm39)	T211I	probably damaging	Het
Tcf4	G	T	18: 69,697,226 (GRCm39)	S34I	possibly damaging	Het
Tlr4	C	T	4: 66,759,435 (GRCm39)	R743C	probably damaging	Het
Tmem183a	T	C	1: 134,288,620 (GRCm39)	E67G	probably damaging	Het
Tpr	C	T	1: 150,317,947 (GRCm39)	R2152C	possibly damaging	Het
Trbv15	T	C	6: 41,118,358 (GRCm39)	I38T	probably benign	Het
Treh	G	A	9: 44,592,849 (GRCm39)	A125T	probably damaging	Het
Trio	A	T	15: 27,752,875 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,782,293 (GRCm39)	V981A	probably damaging	Het
Uap1l1	A	G	2: 25,252,732 (GRCm39)	L436P	probably damaging	Het
Uba7	A	T	9: 107,854,115 (GRCm39)	I182F	possibly damaging	Het
Unc13c	A	T	9: 73,600,620 (GRCm39)	S1375T	probably benign	Het
Usp48	C	CT	4: 137,360,680 (GRCm39)		probably null	Het
Utp20	A	C	10: 88,652,780 (GRCm39)	V378G	possibly damaging	Het
Vmn1r69	A	T	7: 10,314,926 (GRCm39)		probably benign	Het
Vmn1r86	A	T	7: 12,836,221 (GRCm39)	H218Q	probably damaging	Het
Vmn2r121	T	A	X: 123,038,335 (GRCm39)	I562L	probably benign	Het
Vmn2r45	A	T	7: 8,486,472 (GRCm39)	I272N	probably damaging	Het
Wdr90	A	G	17: 26,078,424 (GRCm39)	V320A	probably benign	Het
Wfikkn1	A	G	17: 26,097,367 (GRCm39)	V319A	possibly damaging	Het
Wrn	T	A	8: 33,775,250 (GRCm39)	I605F	probably damaging	Het
Zdhhc18	A	G	4: 133,341,178 (GRCm39)	F232L	probably damaging	Het
Zfp41	T	C	15: 75,490,609 (GRCm39)	I187T	probably benign	Het
Zfp418	A	G	7: 7,185,561 (GRCm39)	Y508C	probably damaging	Het
Zfp560	T	G	9: 20,260,347 (GRCm39)	I172L	probably benign	Het
Zfp943	A	T	17: 22,211,391 (GRCm39)	D159V	probably benign	Het
Zfp955a	T	C	17: 33,460,696 (GRCm39)	I479V	probably benign	Het
Zfpm1	T	A	8: 123,062,219 (GRCm39)	V426D	probably benign	Het
Zic1	C	T	9: 91,246,558 (GRCm39)	M171I	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
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
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'- GGCTTTCACTTAACCAACTCCAG -3'
(R):5'- AGGTAGTGCTCCAGCTGCC -3'

Sequencing Primer
(F):5'- TTTCACTTAACCAACTCCAGACAGC -3'
(R):5'- GGGAAGCAGGGCTCCAG -3'

Posted On

2015-11-11