Mutagenetix > Incidental Mutation

Incidental Mutation 'R4261:Actr10'

322665

Institutional Source

Beutler Lab

Gene Symbol

Actr10

Ensembl Gene

ENSMUSG00000021076

Gene Name

ARP10 actin-related protein 10

Synonyms

Arp11

MMRRC Submission

041074-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R4261 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70984631-71011492 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70999759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 185 (V185A)

Ref Sequence

ENSEMBL: ENSMUSP00000021479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021479] [ENSMUST00000220582] [ENSMUST00000223549]

AlphaFold

Q9QZB7

Predicted Effect

probably benign
Transcript: ENSMUST00000021479
AA Change: V185A

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000021479
Gene: ENSMUSG00000021076
AA Change: V185A

Domain	Start	End	E-Value	Type
ACTIN	13	394	3e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000220582

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220770

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221583

Predicted Effect

probably benign
Transcript: ENSMUST00000223549
AA Change: V138A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Meta Mutation Damage Score

0.1191

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,214,066 (GRCm39)	S298P	probably damaging	Het
4930407I10Rik	A	G	15: 81,947,927 (GRCm39)	D608G	possibly damaging	Het
Adam9	G	A	8: 25,454,923 (GRCm39)	Q733*	probably null	Het
Adamts4	C	T	1: 171,086,673 (GRCm39)	P822S	probably benign	Het
Arhgap9	G	C	10: 127,164,334 (GRCm39)	R537P	probably damaging	Het
Bsn	T	A	9: 107,987,883 (GRCm39)		probably benign	Het
Car5a	A	T	8: 122,671,488 (GRCm39)	H15Q	probably benign	Het
Disp1	A	T	1: 182,870,950 (GRCm39)	I490N	probably damaging	Het
Dlgap5	T	G	14: 47,651,245 (GRCm39)	Y96S	probably damaging	Het
Dnah10	T	A	5: 124,807,201 (GRCm39)	V162D	possibly damaging	Het
Dock7	A	T	4: 98,892,123 (GRCm39)	M821K	possibly damaging	Het
Exoc3l	T	C	8: 106,017,599 (GRCm39)	R528G	probably damaging	Het
Fam234b	G	A	6: 135,186,134 (GRCm39)	G17E	unknown	Het
Grhl2	G	A	15: 37,361,067 (GRCm39)	G617D	possibly damaging	Het
Herc1	CTGAGGACTCTTTG	CTG	9: 66,355,630 (GRCm39)		probably null	Het
Hoxd9	C	A	2: 74,526,031 (GRCm39)		probably benign	Het
Hspa9	A	G	18: 35,072,476 (GRCm39)	S550P	probably damaging	Het
Ide	A	C	19: 37,306,585 (GRCm39)	S63A	unknown	Het
Kat6b	T	A	14: 21,719,737 (GRCm39)	I1363N	probably damaging	Het
Ltbp1	T	A	17: 75,598,362 (GRCm39)	C614*	probably null	Het
Mphosph8	A	G	14: 56,911,922 (GRCm39)	D315G	probably benign	Het
Mthfr-ps1	A	C	5: 78,622,330 (GRCm39)		noncoding transcript	Het
Mug1	A	G	6: 121,850,693 (GRCm39)	T730A	probably benign	Het
Myef2	T	C	2: 124,957,399 (GRCm39)	T119A	possibly damaging	Het
Pald1	A	G	10: 61,179,471 (GRCm39)	L466P	probably damaging	Het
Pcdh15	G	A	10: 74,481,512 (GRCm39)	V286M	probably damaging	Het
Pcdhgb2	A	G	18: 37,824,950 (GRCm39)	D647G	probably damaging	Het
Pdgfrb	A	C	18: 61,210,703 (GRCm39)	T737P	probably benign	Het
Pgk2	T	G	17: 40,518,274 (GRCm39)	T385P	probably benign	Het
Pkp4	A	G	2: 59,135,506 (GRCm39)	Y126C	probably damaging	Het
Plppr1	A	G	4: 49,300,993 (GRCm39)	I109V	probably benign	Het
Ppcs	A	G	4: 119,279,106 (GRCm39)	F149L	probably damaging	Het
Ppp2r5d	G	A	17: 46,998,007 (GRCm39)	Q219*	probably null	Het
Raf1	C	T	6: 115,600,015 (GRCm39)		probably null	Het
Rfx7	C	T	9: 72,523,925 (GRCm39)	R372W	probably damaging	Het
Robo4	C	A	9: 37,316,877 (GRCm39)	S397R	probably benign	Het
Sat1	T	C	X: 153,998,182 (GRCm39)		probably benign	Het
Serpina1c	T	C	12: 103,863,339 (GRCm39)	K287R	probably benign	Het
Sgsm2	T	A	11: 74,782,854 (GRCm39)	H34L	probably damaging	Het
Slc38a4	A	G	15: 96,896,374 (GRCm39)	Y498H	probably damaging	Het
Ttn	T	A	2: 76,628,384 (GRCm39)	Y14592F	probably damaging	Het
Ube3b	T	C	5: 114,536,489 (GRCm39)	F245S	possibly damaging	Het
Ugt3a1	G	A	15: 9,335,879 (GRCm39)		probably null	Het
Wdr91	T	A	6: 34,881,457 (GRCm39)	S297C	possibly damaging	Het
Zcwpw2	T	C	9: 117,827,982 (GRCm39)		noncoding transcript	Het

Other mutations in Actr10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02084:Actr10	APN	12	71,001,423 (GRCm39)	missense	probably damaging	1.00
IGL02232:Actr10	APN	12	70,990,289 (GRCm39)	missense	probably benign	0.05
IGL02628:Actr10	APN	12	71,001,430 (GRCm39)	critical splice donor site	probably null
IGL03202:Actr10	APN	12	70,987,605 (GRCm39)	missense	probably damaging	0.99
IGL03266:Actr10	APN	12	71,003,440 (GRCm39)	missense	probably benign	0.00
R0505:Actr10	UTSW	12	71,006,738 (GRCm39)	missense	probably damaging	1.00
R1734:Actr10	UTSW	12	71,008,770 (GRCm39)	missense	probably benign	0.23
R1919:Actr10	UTSW	12	70,989,104 (GRCm39)	missense	probably benign	0.00
R2151:Actr10	UTSW	12	70,987,575 (GRCm39)	nonsense	probably null
R2201:Actr10	UTSW	12	71,006,795 (GRCm39)	missense	probably damaging	0.97
R4259:Actr10	UTSW	12	70,999,759 (GRCm39)	missense	probably benign	0.02
R5138:Actr10	UTSW	12	71,008,653 (GRCm39)	missense	probably damaging	1.00
R5326:Actr10	UTSW	12	71,001,430 (GRCm39)	unclassified	probably benign
R5542:Actr10	UTSW	12	71,001,430 (GRCm39)	unclassified	probably benign
R6248:Actr10	UTSW	12	70,999,733 (GRCm39)	missense	probably benign	0.00
R6882:Actr10	UTSW	12	71,003,125 (GRCm39)	missense	probably benign	0.00
R7102:Actr10	UTSW	12	70,999,805 (GRCm39)	critical splice donor site	probably null
R7758:Actr10	UTSW	12	70,989,100 (GRCm39)	missense	probably damaging	1.00
R7800:Actr10	UTSW	12	70,990,283 (GRCm39)	missense	probably benign	0.26
R8766:Actr10	UTSW	12	71,001,430 (GRCm39)	critical splice donor site	probably null
R8850:Actr10	UTSW	12	70,989,032 (GRCm39)	critical splice acceptor site	probably null
R9011:Actr10	UTSW	12	70,999,734 (GRCm39)	missense	probably benign	0.01
R9068:Actr10	UTSW	12	70,989,073 (GRCm39)	missense	probably damaging	1.00
R9229:Actr10	UTSW	12	70,990,259 (GRCm39)	missense	probably damaging	1.00
R9452:Actr10	UTSW	12	71,006,818 (GRCm39)	critical splice donor site	probably null
X0012:Actr10	UTSW	12	70,987,639 (GRCm39)	missense	probably benign	0.04
X0027:Actr10	UTSW	12	71,006,733 (GRCm39)	missense	possibly damaging	0.94
Z1176:Actr10	UTSW	12	71,008,803 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATATGGAAGCCTGGGTGTGC -3'
(R):5'- ACAGCAACAATGACTTAGACTTGG -3'

Sequencing Primer
(F):5'- CCTGAGTCCTGGGATTACAGACATG -3'
(R):5'- TGGGACAAGGTCAAGAGCG -3'

Posted On

2015-06-20