Mutagenetix > Incidental Mutation

Incidental Mutation 'R9068:Actr10'

689386

Institutional Source

Beutler Lab

Gene Symbol

Actr10

Ensembl Gene

ENSMUSG00000021076

Gene Name

ARP10 actin-related protein 10

Synonyms

Arp11

MMRRC Submission

068892-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R9068 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70984631-71011492 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70989073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 64 (L64S)

Ref Sequence

ENSEMBL: ENSMUSP00000021479 (fasta)

Gene Model

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

AlphaFold

Q9QZB7

Predicted Effect

probably damaging
Transcript: ENSMUST00000021479
AA Change: L64S

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

SMART Domains

Protein: ENSMUSP00000021479
Gene: ENSMUSG00000021076
AA Change: L64S

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

Predicted Effect

unknown
Transcript: ENSMUST00000220582
AA Change: Y40H

Predicted Effect

probably damaging
Transcript: ENSMUST00000223549
AA Change: L17S

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

Meta Mutation Damage Score

0.9448

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (57/59)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	C	6: 23,075,828 (GRCm39)	I770V	probably benign	Het
Abtb3	C	A	10: 85,223,762 (GRCm39)	N190K	unknown	Het
Adam22	T	C	5: 8,177,343 (GRCm39)	T589A	probably benign	Het
Akr1b7	T	C	6: 34,395,977 (GRCm39)	S160P	probably damaging	Het
Ankrd52	C	T	10: 128,217,850 (GRCm39)	H277Y	probably damaging	Het
Cc2d1b	T	A	4: 108,482,062 (GRCm39)	L112Q	probably damaging	Het
Cd200r3	T	A	16: 44,773,750 (GRCm39)		probably benign	Het
Clec3a	A	G	8: 115,152,375 (GRCm39)	D127G	probably damaging	Het
Cnnm3	T	C	1: 36,551,962 (GRCm39)	L324P	probably damaging	Het
Cspp1	T	C	1: 10,147,469 (GRCm39)		probably null	Het
Cwf19l1	C	T	19: 44,124,274 (GRCm39)		probably benign	Het
Cyp26b1	G	A	6: 84,551,379 (GRCm39)	T470I	probably damaging	Het
Dedd2	A	G	7: 24,917,092 (GRCm39)	V110A	probably benign	Het
Dnah8	A	G	17: 30,975,729 (GRCm39)	I2866M	possibly damaging	Het
Dpp10	T	C	1: 123,360,667 (GRCm39)	Y286C	probably damaging	Het
Efna2	C	T	10: 80,024,524 (GRCm39)	P177L	probably damaging	Het
Fbxo46	A	G	7: 18,869,325 (GRCm39)		probably benign	Het
Gdpd5	A	T	7: 99,108,048 (GRCm39)	T542S	probably benign	Het
Gm136	T	G	4: 34,750,928 (GRCm39)	D115A	possibly damaging	Het
Gm7356	T	A	17: 14,221,687 (GRCm39)	K114I	possibly damaging	Het
Gpr180	G	T	14: 118,385,658 (GRCm39)	E157*	probably null	Het
Grk4	T	C	5: 34,905,653 (GRCm39)	I466T		Het
Hic1	A	G	11: 75,060,332 (GRCm39)	M5T	unknown	Het
Hmcn2	C	A	2: 31,303,685 (GRCm39)	N3058K	probably benign	Het
Htr5a	T	A	5: 28,055,799 (GRCm39)	H263Q	probably benign	Het
Lrrc7	T	C	3: 157,946,138 (GRCm39)	K187R	probably benign	Het
Map3k8	A	T	18: 4,340,557 (GRCm39)	H252Q	probably benign	Het
Muc4	CAC	CACTAC	16: 32,575,367 (GRCm39)		probably benign	Het
Naa16	A	T	14: 79,612,289 (GRCm39)	M233K	probably benign	Het
Napsa	A	T	7: 44,235,223 (GRCm39)	D336V	probably damaging	Het
Neurod1	T	A	2: 79,285,218 (GRCm39)	N55I	possibly damaging	Het
Or10d5	A	T	9: 39,862,087 (GRCm39)		probably benign	Het
Or4c115	A	T	2: 88,927,369 (GRCm39)	C301S	probably benign	Het
Or5an9	T	C	19: 12,187,703 (GRCm39)	F258L	probably damaging	Het
Or8b12	T	A	9: 37,657,963 (GRCm39)	C178S	probably damaging	Het
Pcdha8	G	T	18: 37,127,323 (GRCm39)	G602C	probably damaging	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Pigr	G	A	1: 130,774,231 (GRCm39)	V404M	probably damaging	Het
Plch1	G	A	3: 63,612,036 (GRCm39)	P803L	probably damaging	Het
Ppp4r3b	T	A	11: 29,159,396 (GRCm39)	F583L	probably benign	Het
Rit2	A	T	18: 31,108,468 (GRCm39)	D172E	possibly damaging	Het
Skint4	C	T	4: 112,022,932 (GRCm39)	P476S	possibly damaging	Het
Slco2b1	A	G	7: 99,320,171 (GRCm39)	V353A	probably benign	Het
Slit3	A	G	11: 35,574,917 (GRCm39)	D1077G	probably damaging	Het
Sun2	A	G	15: 79,612,252 (GRCm39)	F478L	probably benign	Het
Syt6	C	A	3: 103,494,825 (GRCm39)	C263*	probably null	Het
Tfpi	C	A	2: 84,273,235 (GRCm39)	L229F	unknown	Het
Tmem131l	A	T	3: 83,817,775 (GRCm39)	C1242S	probably benign	Het
Ttc3	T	A	16: 94,204,219 (GRCm39)	W280R	probably damaging	Het
Uncx	A	G	5: 139,532,573 (GRCm39)	K213E	possibly damaging	Het
Usp24	T	C	4: 106,232,875 (GRCm39)	L887P	probably benign	Het
Vmn1r178	A	T	7: 23,593,404 (GRCm39)	I151F	probably damaging	Het
Vmn2r50	G	T	7: 9,772,061 (GRCm39)	Q547K	possibly damaging	Het
Vwf	A	G	6: 125,625,792 (GRCm39)		probably benign	Het
Wdfy3	A	T	5: 102,000,451 (GRCm39)	V2973D	probably benign	Het
Zbtb49	T	C	5: 38,358,289 (GRCm39)	M655V	probably benign	Het
Zc3h3	C	T	15: 75,711,499 (GRCm39)	A321T	probably benign	Het
Zeb2	T	A	2: 45,000,040 (GRCm39)	R65W	possibly damaging	Het
Zfp541	A	G	7: 15,812,376 (GRCm39)	E343G	probably damaging	Het
Zfp775	C	A	6: 48,597,151 (GRCm39)	R342S	probably damaging	Het
Zwilch	A	G	9: 64,075,942 (GRCm39)	F27L	probably benign	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
R4261: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
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'- TGCCTGTTCATTGAAATCCCTA -3'
(R):5'- TCAGTTCTCTAATCATCAGCTATGT -3'

Sequencing Primer
(F):5'- ACTCAGGTTAGCTTGATGACC -3'
(R):5'- CATCAGCTATGTTTTTCCAAAGGC -3'

Posted On

2021-11-19