Mutagenetix > Incidental Mutation

Incidental Mutation 'R9303:Acte1'

705063

Institutional Source

Beutler Lab

Gene Symbol

Acte1

Ensembl Gene

ENSMUSG00000031085

Gene Name

actin, epsilon 1

Synonyms

Gm498, LOC244239

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9303 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143420575-143453780 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

G to T at 143434902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115809 (fasta)

Gene Model

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

AlphaFold

D3YYH9

Predicted Effect

probably benign
Transcript: ENSMUST00000134455

Predicted Effect

probably null
Transcript: ENSMUST00000152910

SMART Domains

Protein: ENSMUSP00000115809
Gene: ENSMUSG00000031085

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

Predicted Effect

probably null
Transcript: ENSMUST00000179036

SMART Domains

Protein: ENSMUSP00000137404
Gene: ENSMUSG00000031085

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207235

Predicted Effect

probably benign
Transcript: ENSMUST00000207482

Predicted Effect

probably null
Transcript: ENSMUST00000207630

Predicted Effect

probably benign
Transcript: ENSMUST00000207642

Predicted Effect

probably benign
Transcript: ENSMUST00000208038

Predicted Effect

probably benign
Transcript: ENSMUST00000208153

Predicted Effect

probably benign
Transcript: ENSMUST00000208457

Predicted Effect

probably benign
Transcript: ENSMUST00000208625

Predicted Effect

probably benign
Transcript: ENSMUST00000208761

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,126,989 (GRCm39)	I1227V	probably benign	Het
Adamts17	T	C	7: 66,489,645 (GRCm39)	L21P	probably damaging	Het
Adcy1	T	C	11: 7,094,766 (GRCm39)	V564A	probably damaging	Het
Adgre1	A	G	17: 57,748,275 (GRCm39)	N492D	probably benign	Het
Aldh1b1	G	A	4: 45,803,811 (GRCm39)	V450M	probably damaging	Het
Arv1	T	A	8: 125,457,685 (GRCm39)	H196Q	probably damaging	Het
Atp9a	A	T	2: 168,517,163 (GRCm39)	I390N	probably benign	Het
Bltp1	A	G	3: 37,098,969 (GRCm39)	I1277V		Het
Capn10	T	C	1: 92,871,665 (GRCm39)		probably null	Het
Casq2	A	G	3: 102,052,700 (GRCm39)	D404G	unknown	Het
Cenpf	T	C	1: 189,392,271 (GRCm39)		probably null	Het
Cep295nl	G	A	11: 118,224,766 (GRCm39)	P26L	possibly damaging	Het
Chmp4c	T	G	3: 10,454,974 (GRCm39)	S214A	probably benign	Het
Chrna5	T	C	9: 54,912,156 (GRCm39)	F319L	probably benign	Het
Csmd1	G	T	8: 16,011,532 (GRCm39)	T2507K	probably benign	Het
Ctnnd2	T	C	15: 30,967,037 (GRCm39)	M996T	probably damaging	Het
Dbf4	T	C	5: 8,448,102 (GRCm39)	T328A	unknown	Het
Ddc	C	T	11: 11,779,132 (GRCm39)	V331I	probably benign	Het
Fads2b	A	T	2: 85,330,649 (GRCm39)	C219*	probably null	Het
Fat1	T	A	8: 45,463,498 (GRCm39)	W1347R	probably damaging	Het
Fbxw21	A	G	9: 108,986,727 (GRCm39)	F51L	probably benign	Het
Gng2	G	T	14: 19,925,961 (GRCm39)	H44N	probably damaging	Het
Hps5	G	A	7: 46,438,619 (GRCm39)	T38I	possibly damaging	Het
Igf2	G	A	7: 142,208,153 (GRCm39)	R64C	probably damaging	Het
Inpp4b	C	T	8: 82,759,758 (GRCm39)	A601V	probably damaging	Het
Kdm2a	A	G	19: 4,395,606 (GRCm39)	Y342H	probably benign	Het
Kidins220	C	A	12: 25,107,110 (GRCm39)	T1430K	probably benign	Het
Knl1	T	C	2: 118,898,829 (GRCm39)	C177R	possibly damaging	Het
Krt32	T	C	11: 99,972,029 (GRCm39)	T440A	probably benign	Het
Kynu	T	A	2: 43,569,768 (GRCm39)	F350Y	probably damaging	Het
Lama4	T	C	10: 38,973,137 (GRCm39)	L1568P	probably damaging	Het
Lrp1b	A	T	2: 41,618,574 (GRCm39)	S281T		Het
Or2y3	A	T	17: 38,393,629 (GRCm39)	V80D	probably damaging	Het
Or5h23	A	G	16: 58,906,802 (GRCm39)	S15P	probably benign	Het
Or8c19-ps1	C	T	9: 38,220,463 (GRCm39)	T124M	probably benign	Het
Orc3	G	A	4: 34,607,181 (GRCm39)	R50*	probably null	Het
Osbpl6	T	A	2: 76,378,716 (GRCm39)	D124E	probably damaging	Het
Parp4	TG	T	14: 56,832,790 (GRCm39)		probably null	Het
Parp4	T	C	14: 56,852,224 (GRCm39)		probably null	Het
Pcdhb18	A	C	18: 37,625,004 (GRCm39)	H778P	probably benign	Het
Polg	A	T	7: 79,105,860 (GRCm39)	Y710N	probably benign	Het
Ppp2r2b	C	A	18: 42,779,025 (GRCm39)	R370L	possibly damaging	Het
Raet1e	C	T	10: 22,057,872 (GRCm39)	T213I	possibly damaging	Het
Reln	T	A	5: 22,193,705 (GRCm39)	S1418C	possibly damaging	Het
Reln	T	C	5: 22,285,689 (GRCm39)	S427G	probably benign	Het
Rhobtb2	G	A	14: 70,025,376 (GRCm39)	H633Y	probably damaging	Het
Serpina3i	T	C	12: 104,234,881 (GRCm39)	V404A	probably damaging	Het
Serpinb8	T	C	1: 107,526,769 (GRCm39)		probably null	Het
Sorl1	G	T	9: 41,900,739 (GRCm39)	Q1658K	probably damaging	Het
Tmem26	G	A	10: 68,559,816 (GRCm39)	W29*	probably null	Het
Togaram2	A	G	17: 71,996,408 (GRCm39)	E137G	probably damaging	Het
Ttc39b	A	G	4: 83,151,023 (GRCm39)	L524S	probably damaging	Het
Usp43	T	C	11: 67,767,345 (GRCm39)	N675S	probably damaging	Het
Vmn2r104	A	G	17: 20,268,439 (GRCm39)	L10P	possibly damaging	Het
Zbtb1	G	A	12: 76,432,773 (GRCm39)	R253Q	probably damaging	Het
Zfp354b	T	A	11: 50,820,256 (GRCm39)	R36S	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
R0726:Acte1	UTSW	7	143,425,498 (GRCm39)	missense	probably damaging	0.99
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
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'- AACAGATAGGTGGCAGGTGT -3'
(R):5'- TTCAGGTTGGAACAGAACAGG -3'

Sequencing Primer
(F):5'- GGTGGTAGATTTTACACAAGCACAC -3'
(R):5'- GTTGGAACAGAACAGGATCCTCC -3'

Posted On

2022-03-25