Mutagenetix > Incidental Mutation

Incidental Mutation 'R0726:Acte1'

63760

Institutional Source

Beutler Lab

Gene Symbol

Acte1

Ensembl Gene

ENSMUSG00000031085

Gene Name

actin, epsilon 1

Synonyms

Gm498, LOC244239

MMRRC Submission

038908-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R0726 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

143420575-143453780 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143425498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 49 (D49G)

Ref Sequence

ENSEMBL: ENSMUSP00000146459 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000134455] [ENSMUST00000152910] [ENSMUST00000179036] [ENSMUST00000207235] [ENSMUST00000207482] [ENSMUST00000207630] [ENSMUST00000208153] [ENSMUST00000208038] [ENSMUST00000208457] [ENSMUST00000208761] [ENSMUST00000207642] [ENSMUST00000208625]

AlphaFold

D3YYH9

Predicted Effect

probably damaging
Transcript: ENSMUST00000134455
AA Change: D49G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000152910
AA Change: D49G

PolyPhen 2 Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115809
Gene: ENSMUSG00000031085
AA Change: D49G

Domain	Start	End	E-Value	Type
ACTIN	3	372	1.94e-125	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179036
AA Change: D51G

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000137404
Gene: ENSMUSG00000031085
AA Change: D51G

Domain	Start	End	E-Value	Type
ACTIN	5	330	1.4e-81	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207235
AA Change: D49G

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207388

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207482
AA Change: D49G

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207630
AA Change: D49G

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208153
AA Change: D49G

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208038
AA Change: D49G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208457
AA Change: D49G

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208761
AA Change: D49G

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000207642

Predicted Effect

probably benign
Transcript: ENSMUST00000208625

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.1%
20x: 89.2%

Validation Efficiency

98% (90/92)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg12	T	C	15: 88,690,850 (GRCm39)	Y256C	probably damaging	Het
Alox15	T	A	11: 70,241,021 (GRCm39)	D160V	probably damaging	Het
Aox1	T	C	1: 58,373,941 (GRCm39)		probably benign	Het
Bbs9	G	T	9: 22,705,119 (GRCm39)	A729S	probably damaging	Het
Bltp3a	T	C	17: 28,104,463 (GRCm39)	V503A	possibly damaging	Het
Bmp2k	T	A	5: 97,235,353 (GRCm39)		probably benign	Het
Braf	C	T	6: 39,639,082 (GRCm39)	R223Q	possibly damaging	Het
Cd101	A	T	3: 100,927,938 (GRCm39)	S48T	possibly damaging	Het
Cdh9	T	G	15: 16,831,130 (GRCm39)	D322E	probably benign	Het
Col28a1	C	T	6: 8,014,495 (GRCm39)		probably null	Het
Cpxm1	G	A	2: 130,232,859 (GRCm39)	R712W	probably damaging	Het
Csnk1g1	T	C	9: 65,939,637 (GRCm39)		probably benign	Het
Cyp2d37-ps	A	C	15: 82,574,650 (GRCm39)		noncoding transcript	Het
Cyth3	T	C	5: 143,678,397 (GRCm39)	V115A	probably benign	Het
Dnah9	C	T	11: 65,856,507 (GRCm39)	V2885M	probably damaging	Het
Dock9	G	T	14: 121,889,180 (GRCm39)	Y326*	probably null	Het
Espl1	T	C	15: 102,231,033 (GRCm39)	I1844T	probably benign	Het
Fam20a	T	A	11: 109,568,020 (GRCm39)	N357Y	probably damaging	Het
Fancc	C	A	13: 63,471,225 (GRCm39)	R385L	probably benign	Het
Foxe3	A	T	4: 114,782,447 (GRCm39)	L255H	unknown	Het
Frem2	T	C	3: 53,427,047 (GRCm39)	D2967G	possibly damaging	Het
Gabra6	T	G	11: 42,205,954 (GRCm39)	T301P	probably damaging	Het
Ganab	T	A	19: 8,888,477 (GRCm39)	Y511N	probably damaging	Het
Grm4	T	A	17: 27,657,412 (GRCm39)		probably benign	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Kcnj9	G	A	1: 172,153,488 (GRCm39)	S212F	probably damaging	Het
Kif15	C	A	9: 122,788,993 (GRCm39)	H62N	probably benign	Het
Kptn	A	G	7: 15,854,647 (GRCm39)	D106G	probably damaging	Het
Krtap13-1	T	A	16: 88,526,192 (GRCm39)	S139T	probably damaging	Het
Lepr	C	A	4: 101,622,131 (GRCm39)	N354K	probably benign	Het
Lypd3	G	T	7: 24,337,969 (GRCm39)	E112*	probably null	Het
Med13l	A	T	5: 118,886,749 (GRCm39)	N1550I	probably damaging	Het
Mettl2	C	T	11: 105,017,670 (GRCm39)	P60L	probably benign	Het
Mtcl2	G	T	2: 156,902,182 (GRCm39)	R278S	probably damaging	Het
Muc4	A	G	16: 32,590,201 (GRCm39)	E850G	probably damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Nek1	A	G	8: 61,542,626 (GRCm39)	R739G	probably damaging	Het
Nipbl	A	T	15: 8,381,039 (GRCm39)	D584E	probably benign	Het
Nkain3	C	T	4: 20,158,388 (GRCm39)	V162M	possibly damaging	Het
Nmrk1	T	C	19: 18,618,844 (GRCm39)		probably benign	Het
Nsd2	T	C	5: 34,018,372 (GRCm39)		probably benign	Het
Or2n1b	T	C	17: 38,459,515 (GRCm39)	F12S	probably damaging	Het
Or4b1	T	A	2: 89,979,627 (GRCm39)	H241L	probably damaging	Het
Or4p23	A	T	2: 88,576,352 (GRCm39)	N293K	probably benign	Het
Or5b24	T	A	19: 12,912,969 (GRCm39)	V289D	probably damaging	Het
Or8b44	T	A	9: 38,410,418 (GRCm39)	M151K	possibly damaging	Het
Otulinl	A	T	15: 27,657,033 (GRCm39)	I338N	probably damaging	Het
Phex	T	A	X: 156,155,557 (GRCm39)		probably benign	Het
Pip5k1b	G	T	19: 24,356,256 (GRCm39)	D227E	probably damaging	Het
Prdm13	A	G	4: 21,683,914 (GRCm39)	I119T	unknown	Het
Rab19	G	T	6: 39,360,893 (GRCm39)	V14L	probably benign	Het
Rasa3	A	G	8: 13,630,118 (GRCm39)		probably benign	Het
Rgsl1	C	T	1: 153,678,074 (GRCm39)	S118N	probably damaging	Het
Rif1	C	T	2: 52,000,365 (GRCm39)	T1273M	possibly damaging	Het
Scn8a	A	G	15: 100,870,711 (GRCm39)	N254S	probably damaging	Het
Sema6a	T	C	18: 47,425,048 (GRCm39)	T188A	probably damaging	Het
Sh3pxd2a	C	T	19: 47,257,201 (GRCm39)	E506K	probably damaging	Het
Smarca2	A	T	19: 26,675,803 (GRCm39)	K1014N	probably damaging	Het
Smarca4	T	G	9: 21,611,435 (GRCm39)		probably null	Het
Sntb1	T	C	15: 55,539,752 (GRCm39)	R361G	probably benign	Het
Stx5a	T	A	19: 8,732,275 (GRCm39)	I208N	probably damaging	Het
Tas2r102	T	A	6: 132,739,415 (GRCm39)	W108R	probably damaging	Het
Tcl1	A	G	12: 105,184,929 (GRCm39)	Y94H	probably damaging	Het
Tenm3	T	A	8: 48,689,629 (GRCm39)	Y1986F	probably damaging	Het
Tet2	G	A	3: 133,173,945 (GRCm39)	P1439L	probably benign	Het
Tiam2	T	C	17: 3,563,108 (GRCm39)		probably benign	Het
Ubap2l	G	A	3: 89,928,553 (GRCm39)	T526M	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ushbp1	T	A	8: 71,841,391 (GRCm39)		probably benign	Het
Usp28	C	T	9: 48,915,169 (GRCm39)	R115C	probably damaging	Het
Vldlr	A	T	19: 27,215,786 (GRCm39)	D261V	probably damaging	Het
Vmn2r5	C	T	3: 64,411,186 (GRCm39)	D461N	probably benign	Het
Vmn2r86	A	T	10: 130,282,265 (GRCm39)	F784I	probably damaging	Het
Zfp59	A	T	7: 27,553,513 (GRCm39)	I322F	probably damaging	Het
Zfp607a	A	T	7: 27,578,574 (GRCm39)	H548L	probably benign	Het
Zfp626	G	A	7: 27,518,048 (GRCm39)	C343Y	probably damaging	Het

Other mutations in Acte1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02202:Acte1	APN	7	143,447,910 (GRCm39)	missense	possibly damaging	0.71
R0128:Acte1	UTSW	7	143,445,492 (GRCm39)	missense	probably damaging	1.00
R0217:Acte1	UTSW	7	143,447,956 (GRCm39)	splice site	probably benign
R1025:Acte1	UTSW	7	143,450,127 (GRCm39)	missense	probably damaging	0.99
R2879:Acte1	UTSW	7	143,447,800 (GRCm39)	nonsense	probably null
R2925:Acte1	UTSW	7	143,437,736 (GRCm39)	nonsense	probably null
R3625:Acte1	UTSW	7	143,425,591 (GRCm39)	missense	possibly damaging	0.71
R4003:Acte1	UTSW	7	143,451,040 (GRCm39)	missense	probably benign	0.16
R4184:Acte1	UTSW	7	143,447,858 (GRCm39)	nonsense	probably null
R4205:Acte1	UTSW	7	143,422,964 (GRCm39)	missense	probably damaging	0.99
R6179:Acte1	UTSW	7	143,425,524 (GRCm39)	missense	probably benign	0.12
R7170:Acte1	UTSW	7	143,450,102 (GRCm39)	missense	probably damaging	0.97
R8023:Acte1	UTSW	7	143,445,528 (GRCm39)	missense	probably damaging	0.97
R8109:Acte1	UTSW	7	143,451,203 (GRCm39)	splice site	probably null
R8120:Acte1	UTSW	7	143,425,524 (GRCm39)	missense	probably benign	0.12
R8309:Acte1	UTSW	7	143,437,680 (GRCm39)	missense	possibly damaging	0.95
R8516:Acte1	UTSW	7	143,451,011 (GRCm39)	missense	probably damaging	0.98
R8748:Acte1	UTSW	7	143,445,556 (GRCm39)	missense	probably benign
R8944:Acte1	UTSW	7	143,434,902 (GRCm39)	critical splice acceptor site	probably null
R8964:Acte1	UTSW	7	143,423,030 (GRCm39)	missense	probably benign
R9220:Acte1	UTSW	7	143,434,902 (GRCm39)	critical splice acceptor site	probably null
R9221:Acte1	UTSW	7	143,434,902 (GRCm39)	critical splice acceptor site	probably null
R9222:Acte1	UTSW	7	143,434,902 (GRCm39)	critical splice acceptor site	probably null
R9303:Acte1	UTSW	7	143,434,902 (GRCm39)	critical splice acceptor site	probably null
R9304:Acte1	UTSW	7	143,434,902 (GRCm39)	critical splice acceptor site	probably null
R9306:Acte1	UTSW	7	143,434,902 (GRCm39)	critical splice acceptor site	probably null
R9307:Acte1	UTSW	7	143,434,902 (GRCm39)	critical splice acceptor site	probably null
R9308:Acte1	UTSW	7	143,434,902 (GRCm39)	critical splice acceptor site	probably null
R9428:Acte1	UTSW	7	143,434,902 (GRCm39)	critical splice acceptor site	probably null
R9429:Acte1	UTSW	7	143,434,902 (GRCm39)	critical splice acceptor site	probably null
R9457:Acte1	UTSW	7	143,437,713 (GRCm39)	missense	possibly damaging	0.92
R9596:Acte1	UTSW	7	143,434,902 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATGAATGTCCTCACAGCGACCCTC -3'
(R):5'- ACCATTCCTCAGTGCCAAAGGCAG -3'

Sequencing Primer
(F):5'- ATGGTTGGAAAGCCTCCTC -3'
(R):5'- CAGTGGCTGGGGCATTAC -3'

Posted On

2013-07-30