Mutagenetix > Incidental Mutation

Incidental Mutation 'R8166:Actrt3'

633760

Institutional Source

Beutler Lab

Gene Symbol

Actrt3

Ensembl Gene

ENSMUSG00000037737

Gene Name

actin related protein T3

Synonyms

Arpm1, 1700119I24Rik

MMRRC Submission

067592-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8166 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30651221-30654021 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30652674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 140 (F140S)

Ref Sequence

ENSEMBL: ENSMUSP00000048360 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047502] [ENSMUST00000047630] [ENSMUST00000192715] [ENSMUST00000195396] [ENSMUST00000195751]

AlphaFold

Q8BXF8

Predicted Effect

probably benign
Transcript: ENSMUST00000047502

SMART Domains

Protein: ENSMUSP00000041034
Gene: ENSMUSG00000037730

Domain	Start	End	E-Value	Type
BTB	24	119	4.44e-22	SMART
low complexity region	174	190	N/A	INTRINSIC
ZnF_C2H2	302	324	1.47e-3	SMART
ZnF_C2H2	330	352	5.14e-3	SMART
ZnF_C2H2	358	380	1.36e-2	SMART
ZnF_C2H2	387	409	1.12e-3	SMART
ZnF_C2H2	415	437	3.63e-3	SMART
ZnF_C2H2	443	465	1.1e-2	SMART
ZnF_C2H2	471	493	2.99e-4	SMART
ZnF_C2H2	499	522	3.58e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000047630
AA Change: F140S

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

SMART Domains

Protein: ENSMUSP00000048360
Gene: ENSMUSG00000037737
AA Change: F140S

Domain	Start	End	E-Value	Type
ACTIN	5	369	3.33e-147	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000192715

SMART Domains

Protein: ENSMUSP00000141951
Gene: ENSMUSG00000037730

Domain	Start	End	E-Value	Type
BTB	24	119	4.44e-22	SMART
low complexity region	174	190	N/A	INTRINSIC
ZnF_C2H2	302	324	1.47e-3	SMART
ZnF_C2H2	330	352	5.14e-3	SMART
ZnF_C2H2	358	380	1.36e-2	SMART
ZnF_C2H2	387	409	1.12e-3	SMART
ZnF_C2H2	415	437	3.63e-3	SMART
ZnF_C2H2	443	465	1.1e-2	SMART
ZnF_C2H2	471	493	2.99e-4	SMART
ZnF_C2H2	499	522	3.58e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195396

SMART Domains

Protein: ENSMUSP00000141623
Gene: ENSMUSG00000037730

Domain	Start	End	E-Value	Type
Pfam:BTB	14	55	6.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195751

SMART Domains

Protein: ENSMUSP00000141450
Gene: ENSMUSG00000037730

Domain	Start	End	E-Value	Type
Pfam:BTB	14	55	6.4e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,144,232 (GRCm39)	V569A	probably benign	Het
Alx1	T	A	10: 102,845,224 (GRCm39)	Q269L	probably damaging	Het
Amph	G	T	13: 19,132,660 (GRCm39)	A20S	possibly damaging	Het
Aqr	T	A	2: 113,943,806 (GRCm39)	M1111L	possibly damaging	Het
Atp10a	A	T	7: 58,457,270 (GRCm39)	H923L	possibly damaging	Het
Bmpr1a	A	C	14: 34,147,026 (GRCm39)	W249G	probably damaging	Het
Bmpr2	A	T	1: 59,906,740 (GRCm39)	N611I	probably damaging	Het
Cadm2	A	G	16: 66,750,197 (GRCm39)	L9S	probably benign	Het
Ccdc102a	C	A	8: 95,639,944 (GRCm39)	A117S	possibly damaging	Het
Clec4f	G	T	6: 83,629,624 (GRCm39)	S311R	possibly damaging	Het
Dchs2	T	A	3: 83,261,640 (GRCm39)	I2636N	probably benign	Het
Dync2h1	T	A	9: 7,129,089 (GRCm39)	K1809*	probably null	Het
Efs	C	T	14: 55,158,077 (GRCm39)	R108Q	probably damaging	Het
Eif5b	A	G	1: 38,087,901 (GRCm39)	T966A	probably benign	Het
Entrep2	A	G	7: 64,409,153 (GRCm39)	S414P	probably benign	Het
Flnc	A	C	6: 29,433,731 (GRCm39)	N92H	probably damaging	Het
Gm13030	A	T	4: 138,598,533 (GRCm39)	L130H	unknown	Het
Gm17190	A	C	13: 96,219,142 (GRCm39)	R159S	unknown	Het
Hipk1	T	C	3: 103,685,489 (GRCm39)	Y42C	possibly damaging	Het
Ifi207	C	A	1: 173,557,166 (GRCm39)	C524F	possibly damaging	Het
Ifi207	A	C	1: 173,557,504 (GRCm39)	S411R	probably benign	Het
Ighv8-9	G	T	12: 115,432,212 (GRCm39)	P33H	probably damaging	Het
Igkv8-34	A	G	6: 70,021,619 (GRCm39)	V15A	probably benign	Het
Irx5	T	A	8: 93,086,712 (GRCm39)		probably null	Het
Kcnh4	A	G	11: 100,632,712 (GRCm39)	L925P	probably benign	Het
Kctd9	G	A	14: 67,967,141 (GRCm39)	R153H	possibly damaging	Het
Lats1	A	G	10: 7,577,880 (GRCm39)	T335A	probably benign	Het
Med20	A	G	17: 47,924,027 (GRCm39)	T52A	probably benign	Het
Msantd4	A	T	9: 4,384,095 (GRCm39)	T139S	possibly damaging	Het
Mtif3	T	C	5: 146,896,052 (GRCm39)	T12A	probably benign	Het
N4bp2	T	G	5: 65,977,655 (GRCm39)	S1518A	probably benign	Het
Naip2	T	C	13: 100,298,515 (GRCm39)	N507S	probably benign	Het
Nasp	A	T	4: 116,468,112 (GRCm39)	V291E	probably benign	Het
Ncapg2	T	G	12: 116,376,036 (GRCm39)	D40E	probably benign	Het
Nipsnap1	A	G	11: 4,834,057 (GRCm39)	D103G	probably benign	Het
Nsmce1	A	G	7: 125,070,319 (GRCm39)	L164P	probably damaging	Het
Ogdhl	G	A	14: 32,059,763 (GRCm39)	V426I	probably damaging	Het
Or5p66	A	G	7: 107,885,904 (GRCm39)	V143A	probably benign	Het
P3h2	T	C	16: 25,811,572 (GRCm39)	E217G	possibly damaging	Het
Pnpt1	A	G	11: 29,106,875 (GRCm39)	I649V	probably benign	Het
Prxl2c	A	T	13: 64,456,921 (GRCm39)	Y101N		Het
Pum2	G	A	12: 8,771,739 (GRCm39)	A361T	possibly damaging	Het
Rictor	G	A	15: 6,798,815 (GRCm39)		probably null	Het
Rps6ka4	G	A	19: 6,814,811 (GRCm39)	R264W	possibly damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Sall1	T	C	8: 89,755,146 (GRCm39)	T1278A	probably benign	Het
Scg2	T	A	1: 79,413,300 (GRCm39)	K434N	possibly damaging	Het
Suclg1	T	A	6: 73,237,555 (GRCm39)	V100D	probably damaging	Het
Tarbp1	T	G	8: 127,153,867 (GRCm39)	E1528D	possibly damaging	Het
Trgc1	A	G	13: 19,400,772 (GRCm39)	N167S		Het
Tshz2	C	A	2: 169,725,575 (GRCm39)	T57K	probably benign	Het
Ttc22	G	A	4: 106,491,673 (GRCm39)	R229H	probably damaging	Het
Vcan	A	G	13: 89,840,855 (GRCm39)	V1563A	probably benign	Het
Vmn1r68	A	T	7: 10,261,888 (GRCm39)	M70K	probably benign	Het
Vmn2r105	A	T	17: 20,428,904 (GRCm39)	I724N	probably benign	Het
Vmn2r96	T	C	17: 18,802,744 (GRCm39)	L26P	probably damaging	Het
Wdr72	G	A	9: 74,120,610 (GRCm39)	S955N	probably benign	Het
Zfp518b	C	A	5: 38,831,838 (GRCm39)	A56S	probably damaging	Het

Other mutations in Actrt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01433:Actrt3	APN	3	30,652,188 (GRCm39)	missense	probably damaging	0.99
IGL01783:Actrt3	APN	3	30,652,624 (GRCm39)	missense	probably benign	0.33
IGL02684:Actrt3	APN	3	30,653,840 (GRCm39)	missense	probably benign	0.15
R0017:Actrt3	UTSW	3	30,652,422 (GRCm39)	missense	probably benign	0.00
R0410:Actrt3	UTSW	3	30,652,273 (GRCm39)	missense	probably benign
R0574:Actrt3	UTSW	3	30,653,829 (GRCm39)	missense	probably benign	0.21
R1710:Actrt3	UTSW	3	30,653,901 (GRCm39)	missense	probably damaging	1.00
R1907:Actrt3	UTSW	3	30,652,716 (GRCm39)	missense	probably damaging	1.00
R2338:Actrt3	UTSW	3	30,651,985 (GRCm39)	makesense	probably null
R2870:Actrt3	UTSW	3	30,653,847 (GRCm39)	missense	probably damaging	1.00
R2870:Actrt3	UTSW	3	30,653,847 (GRCm39)	missense	probably damaging	1.00
R4913:Actrt3	UTSW	3	30,652,588 (GRCm39)	missense	probably benign
R5683:Actrt3	UTSW	3	30,652,427 (GRCm39)	missense	probably benign
R5719:Actrt3	UTSW	3	30,652,276 (GRCm39)	missense	probably benign	0.40
R5942:Actrt3	UTSW	3	30,652,813 (GRCm39)	missense	possibly damaging	0.50
R6153:Actrt3	UTSW	3	30,653,899 (GRCm39)	missense	probably damaging	1.00
R6177:Actrt3	UTSW	3	30,652,316 (GRCm39)	nonsense	probably null
R6741:Actrt3	UTSW	3	30,652,663 (GRCm39)	missense	possibly damaging	0.85
R7584:Actrt3	UTSW	3	30,652,356 (GRCm39)	missense	probably benign	0.06
R7603:Actrt3	UTSW	3	30,652,696 (GRCm39)	missense	probably benign
R8381:Actrt3	UTSW	3	30,651,985 (GRCm39)	makesense	probably null
R8768:Actrt3	UTSW	3	30,651,992 (GRCm39)	missense	probably damaging	1.00
R9091:Actrt3	UTSW	3	30,652,781 (GRCm39)	missense	probably damaging	1.00
R9270:Actrt3	UTSW	3	30,652,781 (GRCm39)	missense	probably damaging	1.00
R9331:Actrt3	UTSW	3	30,652,050 (GRCm39)	missense	probably damaging	1.00
R9742:Actrt3	UTSW	3	30,652,434 (GRCm39)	missense	probably damaging	1.00
R9780:Actrt3	UTSW	3	30,652,876 (GRCm39)	missense	probably damaging	0.99
Z1177:Actrt3	UTSW	3	30,652,152 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- GTTCTAAGCAGCATGATACCATCAC -3'
(R):5'- CAGTGGAACGGGGTCTCATTTC -3'

Sequencing Primer
(F):5'- CCCTTCAACAACATCATGAGGTAG -3'
(R):5'- CATGGAGATCATGTGGAAGCATATC -3'

Posted On

2020-07-13