Mutagenetix > Incidental Mutation

Incidental Mutation 'R8769:Whamm'

664292

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

068624-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8769 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81221014-81246584 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 81234933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 333 (K333*)

Ref Sequence

ENSEMBL: ENSMUSP00000128881 (fasta)

Gene Model

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

AlphaFold

Q571B6

Predicted Effect

probably null
Transcript: ENSMUST00000165460
AA Change: K333*

SMART Domains

Protein: ENSMUSP00000128881
Gene: ENSMUSG00000045795
AA Change: K333*

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
AA Change: K127*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

97% (57/59)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	T	A	2: 68,446,589 (GRCm39)	N289K	unknown	Het
Adgrl2	T	C	3: 148,522,917 (GRCm39)	I436V		Het
Agbl3	C	T	6: 34,834,549 (GRCm39)	S911L	probably damaging	Het
Ampd2	C	T	3: 107,982,613 (GRCm39)	M714I	probably damaging	Het
Asb6	T	C	2: 30,718,143 (GRCm39)	D19G	possibly damaging	Het
Atosa	C	A	9: 74,933,107 (GRCm39)	L1025I	probably damaging	Het
Bbx	T	C	16: 50,061,227 (GRCm39)	Q298R	probably damaging	Het
Bcl9l	T	A	9: 44,420,263 (GRCm39)	M1223K	probably benign	Het
Ccr3	T	A	9: 123,829,096 (GRCm39)	F144I	possibly damaging	Het
Cfap74	T	A	4: 155,503,105 (GRCm39)	F32L		Het
Clhc1	G	A	11: 29,511,401 (GRCm39)	E293K	probably damaging	Het
Col22a1	A	T	15: 71,878,571 (GRCm39)	D195E	probably benign	Het
Cttnbp2	T	A	6: 18,376,003 (GRCm39)	D1512V	probably damaging	Het
Cul9	T	C	17: 46,832,828 (GRCm39)	T1372A	possibly damaging	Het
Dyrk4	G	T	6: 126,857,208 (GRCm39)	D490E	possibly damaging	Het
E4f1	C	T	17: 24,663,574 (GRCm39)	V626M	probably damaging	Het
Edc3	C	T	9: 57,634,678 (GRCm39)	R232C	probably damaging	Het
Eppk1	A	G	15: 75,994,895 (GRCm39)	I662T	probably benign	Het
G3bp2	C	T	5: 92,231,356 (GRCm39)		probably benign	Het
Grik3	T	C	4: 125,550,166 (GRCm39)	L397P	probably damaging	Het
Hectd4	A	G	5: 121,419,936 (GRCm39)	N627S	possibly damaging	Het
Hecw2	C	T	1: 53,952,507 (GRCm39)	V909I	probably benign	Het
Hsd17b12	A	T	2: 93,945,397 (GRCm39)	M75K	probably damaging	Het
Htt	C	T	5: 34,977,633 (GRCm39)	T809I	probably benign	Het
Itih1	A	G	14: 30,655,381 (GRCm39)	S609P	probably damaging	Het
Klk1b9	T	A	7: 43,629,666 (GRCm39)	C234S	probably damaging	Het
Lrrc37a	A	G	11: 103,389,536 (GRCm39)	L1963P	probably benign	Het
Lypd3	C	A	7: 24,337,932 (GRCm39)	H99Q	probably damaging	Het
Mdn1	C	A	4: 32,751,390 (GRCm39)	H4593Q	probably damaging	Het
Mroh1	A	G	15: 76,297,126 (GRCm39)	S325G	probably benign	Het
Muc5ac	G	A	7: 141,372,609 (GRCm39)	G3452R	probably damaging	Het
Myrfl	A	T	10: 116,612,696 (GRCm39)	D884E	probably damaging	Het
Nbeal1	T	A	1: 60,274,370 (GRCm39)	H260Q	probably damaging	Het
Ngef	A	G	1: 87,408,883 (GRCm39)	L519P	probably damaging	Het
Or5ac20	A	G	16: 59,104,194 (GRCm39)	L222P	probably damaging	Het
Or5b102	T	A	19: 13,041,307 (GRCm39)	C177*	probably null	Het
Or5w1b	A	T	2: 87,475,960 (GRCm39)	F169Y	probably damaging	Het
Pcca	A	G	14: 122,854,260 (GRCm39)	K184R	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Ppp6r1	A	T	7: 4,644,289 (GRCm39)	V379E	probably benign	Het
Prkca	A	T	11: 107,842,286 (GRCm39)		probably benign	Het
Prune2	A	G	19: 17,100,442 (GRCm39)	E1982G	probably damaging	Het
Rad21l	T	C	2: 151,509,838 (GRCm39)	T88A	probably benign	Het
Rpgrip1l	T	C	8: 91,979,212 (GRCm39)		probably benign	Het
Sec62	T	C	3: 30,864,177 (GRCm39)		probably null	Het
Slc22a19	C	T	19: 7,670,086 (GRCm39)	R256Q	possibly damaging	Het
Slc43a2	G	T	11: 75,434,192 (GRCm39)		probably null	Het
Smarcd3	T	C	5: 24,803,792 (GRCm39)	M30V	probably benign	Het
Tes3-ps	T	A	13: 49,647,356 (GRCm39)	D77E	probably benign	Het
Thbs3	G	A	3: 89,131,937 (GRCm39)		probably benign	Het
Trpm2	A	T	10: 77,768,128 (GRCm39)	N790K	probably benign	Het
Ttc13	A	T	8: 125,405,816 (GRCm39)	N492K	possibly damaging	Het
Ttc39c	T	C	18: 12,828,545 (GRCm39)	L235P	probably damaging	Het
Tyms	T	C	5: 30,278,360 (GRCm39)		probably benign	Het
Ydjc	A	G	16: 16,968,732 (GRCm39)	I224V	probably benign	Het
Zc3hav1	C	T	6: 38,313,416 (GRCm39)	D210N	possibly damaging	Het
Zfp735	G	A	11: 73,581,127 (GRCm39)	E55K	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
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
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'- ATTGTCCTGCGTGTCCTGAAG -3'
(R):5'- ACAGAGCTTGTTCCCAATGC -3'

Sequencing Primer
(F):5'- CCTGAAGGTTTCTATCAGTGACCATG -3'
(R):5'- AGAGCTTGTTCCCAATGCCTAGG -3'

Posted On

2021-03-08