Mutagenetix > Incidental Mutation

Incidental Mutation 'R7525:Whamm'

582920

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

045597-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7525 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81221014-81246584 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 81243598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 607 (G607C)

Ref Sequence

ENSEMBL: ENSMUSP00000128881 (fasta)

Gene Model

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

AlphaFold

Q571B6

Predicted Effect

probably damaging
Transcript: ENSMUST00000165460
AA Change: G607C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128881
Gene: ENSMUSG00000045795
AA Change: G607C

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 benign
Transcript: ENSMUST00000209044

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,331,221 (GRCm39)	T998A	probably damaging	Het
Aadacl4fm2	A	G	4: 144,291,580 (GRCm39)	F42S	probably damaging	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Akt3	T	A	1: 176,847,673 (GRCm39)	K465*	probably null	Het
Ankar	T	C	1: 72,727,800 (GRCm39)	D371G	probably benign	Het
Ankib1	T	G	5: 3,805,734 (GRCm39)	N178H	possibly damaging	Het
Arhgap10	A	G	8: 78,146,699 (GRCm39)		probably null	Het
Arhgef4	A	G	1: 34,848,785 (GRCm39)	D286G	probably damaging	Het
Bsdc1	A	T	4: 129,355,477 (GRCm39)		probably benign	Het
Camk4	T	C	18: 33,318,085 (GRCm39)	V414A	probably benign	Het
Cyp2d9	T	A	15: 82,338,293 (GRCm39)	V139E	possibly damaging	Het
Dhrs13	C	A	11: 77,923,260 (GRCm39)	N21K	unknown	Het
Dop1a	C	T	9: 86,388,343 (GRCm39)	A439V	probably damaging	Het
Dpy19l4	G	A	4: 11,317,160 (GRCm39)	Q13*	probably null	Het
Ecpas	A	G	4: 58,847,038 (GRCm39)	I508T	possibly damaging	Het
Eif2ak1	T	C	5: 143,823,716 (GRCm39)	S388P	probably damaging	Het
Emilin2	T	C	17: 71,581,974 (GRCm39)	S251G	probably benign	Het
Eml4	T	A	17: 83,753,379 (GRCm39)	L350Q	probably damaging	Het
Fblim1	A	T	4: 141,317,391 (GRCm39)	L98H	probably damaging	Het
Fcrl6	T	A	1: 172,425,239 (GRCm39)	N264I	probably benign	Het
Gzme	A	C	14: 56,356,790 (GRCm39)	D57E	probably benign	Het
H2-D1	A	G	17: 35,484,909 (GRCm39)	T257A	probably damaging	Het
Hectd4	C	A	5: 121,481,728 (GRCm39)	D3092E	possibly damaging	Het
Hrc	A	G	7: 44,985,803 (GRCm39)	E318G	probably benign	Het
Hspbp1	A	G	7: 4,666,435 (GRCm39)	L315P	probably damaging	Het
Insr	A	T	8: 3,242,642 (GRCm39)	Y591N	probably damaging	Het
Lrch4	T	A	5: 137,637,727 (GRCm39)	I582N	probably damaging	Het
Lrit2	A	G	14: 36,794,450 (GRCm39)	K505E	possibly damaging	Het
Lrp1b	A	T	2: 40,547,428 (GRCm39)	N4251K		Het
Mfsd13a	T	C	19: 46,357,716 (GRCm39)	F290S	probably damaging	Het
Mgam	T	G	6: 40,742,954 (GRCm39)	N1791K	probably benign	Het
Mroh7	A	T	4: 106,566,899 (GRCm39)	I450N	probably benign	Het
Mylk	G	A	16: 34,809,357 (GRCm39)	M1771I	probably benign	Het
Or10ak12	A	T	4: 118,666,691 (GRCm39)	F123L	probably damaging	Het
Or51aa2	A	T	7: 103,188,338 (GRCm39)	C34*	probably null	Het
Or8d1	A	T	9: 38,766,534 (GRCm39)	M59L	possibly damaging	Het
Or8g55	T	A	9: 39,785,435 (GRCm39)	L288*	probably null	Het
Parp14	A	T	16: 35,677,861 (GRCm39)	H702Q	probably benign	Het
Pcdhga1	T	C	18: 37,795,281 (GRCm39)	L95P	probably damaging	Het
Pcsk5	T	C	19: 17,619,954 (GRCm39)	T373A	probably damaging	Het
Pdzph1	A	G	17: 59,274,336 (GRCm39)	V836A	possibly damaging	Het
Pgap1	T	A	1: 54,570,081 (GRCm39)	N322I	probably benign	Het
Pikfyve	C	T	1: 65,283,585 (GRCm39)	R741*	probably null	Het
Pip4k2c	A	G	10: 127,044,773 (GRCm39)	S80P	probably damaging	Het
Plekhh3	A	G	11: 101,057,445 (GRCm39)	F271L	probably damaging	Het
Prkdc	A	T	16: 15,490,191 (GRCm39)	Y565F	probably damaging	Het
Prom2	T	C	2: 127,374,701 (GRCm39)	R612G	probably benign	Het
Psap	T	C	10: 60,135,253 (GRCm39)	V303A	probably benign	Het
Ptch1	C	T	13: 63,659,528 (GRCm39)	R1375H	probably benign	Het
Slc24a3	A	C	2: 145,455,450 (GRCm39)	K446N	probably benign	Het
Slc39a12	T	A	2: 14,499,272 (GRCm39)	M661K	probably benign	Het
Slc6a16	T	C	7: 44,908,537 (GRCm39)	L39P	probably benign	Het
Syne1	T	G	10: 5,135,559 (GRCm39)		probably null	Het
Taar8c	T	C	10: 23,977,764 (GRCm39)	N16S	probably benign	Het
Tmem98	A	G	11: 80,708,344 (GRCm39)	T105A	probably damaging	Het
Tmub1	T	A	5: 24,651,011 (GRCm39)	Y216F	probably damaging	Het
Trim16	T	G	11: 62,711,580 (GRCm39)	C84G	probably damaging	Het
Ttn	T	A	2: 76,561,573 (GRCm39)	K28978*	probably null	Het
Usp38	A	G	8: 81,740,875 (GRCm39)	V64A	probably damaging	Het
Vmn2r63	A	T	7: 42,576,406 (GRCm39)	F469Y	possibly damaging	Het
Vmn2r74	A	G	7: 85,610,510 (GRCm39)	W61R	probably benign	Het
Xkr6	G	T	14: 64,056,610 (GRCm39)	V430F	probably benign	Het
Zfp398	A	G	6: 47,842,752 (GRCm39)	D268G	probably benign	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
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
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'- TTAGAAGTGCCCGGCTCATC -3'
(R):5'- GCCAAAGTCCTGAGCCCTAAATTC -3'

Sequencing Primer
(F):5'- TCGGTCTGCACTGAAAACAACTTG -3'
(R):5'- GTCCTGAGCCCTAAATTCTGATGAG -3'

Posted On

2019-10-17