Mutagenetix > Incidental Mutation

Incidental Mutation 'R5546:Actl11'

436293

Institutional Source

Beutler Lab

Gene Symbol

Actl11

Ensembl Gene

ENSMUSG00000066368

Gene Name

actin-like 11

Synonyms

4921517D21Rik

MMRRC Submission

043104-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R5546 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107805668-107809660 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107806832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 385 (N385S)

Ref Sequence

ENSEMBL: ENSMUSP00000082150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085073]

AlphaFold

Q9D5V1

Predicted Effect

probably benign
Transcript: ENSMUST00000085073
AA Change: N385S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000082150
Gene: ENSMUSG00000066368
AA Change: N385S

Domain	Start	End	E-Value	Type
low complexity region	223	239	N/A	INTRINSIC
low complexity region	301	309	N/A	INTRINSIC
low complexity region	374	391	N/A	INTRINSIC
low complexity region	492	507	N/A	INTRINSIC
low complexity region	697	710	N/A	INTRINSIC
ACTIN	858	1207	4.26e-81	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	A	T	1: 179,581,633 (GRCm39)	I1523N	probably benign	Het
Akna	C	T	4: 63,313,196 (GRCm39)	G309E	probably benign	Het
Akna	T	C	4: 63,313,803 (GRCm39)	N107D	probably benign	Het
Arhgef15	G	A	11: 68,844,877 (GRCm39)	P240L	probably benign	Het
Brd1	T	A	15: 88,585,325 (GRCm39)	E836D	probably benign	Het
Brf2	A	G	8: 27,614,311 (GRCm39)	S292P	possibly damaging	Het
C3	A	G	17: 57,529,976 (GRCm39)	L500P	probably damaging	Het
Cblif	T	C	19: 11,725,859 (GRCm39)	S50P	possibly damaging	Het
Ccdc107	T	C	4: 43,495,685 (GRCm39)	L196P	probably damaging	Het
Cdcp1	G	T	9: 123,007,094 (GRCm39)	P551Q	probably damaging	Het
Ckap5	T	C	2: 91,425,161 (GRCm39)	L1224P	probably damaging	Het
Csnk1g2	C	A	10: 80,474,232 (GRCm39)	T178K	probably benign	Het
Ctsq	A	T	13: 61,185,702 (GRCm39)	C146*	probably null	Het
Cyp2ab1	T	A	16: 20,132,507 (GRCm39)	I264F	probably damaging	Het
Daxx	TGATGATGACGATGATGACGATGATGA	TGATGATGACGATGATGA	17: 34,131,615 (GRCm39)		probably benign	Het
Dnah11	G	A	12: 117,939,583 (GRCm39)	T3179M	possibly damaging	Het
Dnah7c	A	T	1: 46,705,477 (GRCm39)	T2497S	probably damaging	Het
Eif4enif1	T	C	11: 3,193,989 (GRCm39)	V776A	probably damaging	Het
Erbb4	G	T	1: 68,337,452 (GRCm39)	T622N	probably damaging	Het
Erich6	A	G	3: 58,526,218 (GRCm39)	Y595H	probably benign	Het
Fam107a	C	T	14: 8,298,764 (GRCm38)	A121T	probably benign	Het
Gpatch11	C	T	17: 79,149,548 (GRCm39)	Q183*	probably null	Het
Gpr161	C	A	1: 165,133,982 (GRCm39)	F81L	possibly damaging	Het
Hook1	G	T	4: 95,890,765 (GRCm39)	E291D	probably benign	Het
Hsf2bp	T	A	17: 32,165,669 (GRCm39)	I309F	probably damaging	Het
Hspg2	T	C	4: 137,275,485 (GRCm39)		probably null	Het
Ide	T	G	19: 37,249,623 (GRCm39)	M910L	unknown	Het
Igdcc4	A	G	9: 65,036,077 (GRCm39)	Y712C	probably damaging	Het
Kmt2d	T	C	15: 98,750,949 (GRCm39)		probably benign	Het
Lats1	T	C	10: 7,581,518 (GRCm39)	Y768H	probably damaging	Het
Mageb3	A	G	2: 121,784,868 (GRCm39)	V278A	probably damaging	Het
Mapkbp1	G	A	2: 119,849,724 (GRCm39)	R732H	probably damaging	Het
Marveld2	T	C	13: 100,737,446 (GRCm39)	I148V	probably benign	Het
Mast1	G	C	8: 85,642,889 (GRCm39)	P969A	probably damaging	Het
Myh10	T	G	11: 68,689,206 (GRCm39)	V1261G	possibly damaging	Het
Nlrp1b	A	T	11: 71,108,102 (GRCm39)	H466Q	probably benign	Het
Npr2	T	G	4: 43,650,150 (GRCm39)	V905G	probably damaging	Het
Oip5	T	A	2: 119,440,808 (GRCm39)	I240F	unknown	Het
Or4c12	A	G	2: 89,773,929 (GRCm39)	C177R	probably damaging	Het
Or5k8	G	T	16: 58,644,516 (GRCm39)	Y185*	probably null	Het
Or8b12	T	A	9: 37,657,820 (GRCm39)	M130K	probably benign	Het
Pcsk2	G	A	2: 143,388,480 (GRCm39)	A24T	probably benign	Het
Plxnb1	G	T	9: 108,929,818 (GRCm39)	G225W	probably damaging	Het
Polr1a	T	C	6: 71,906,350 (GRCm39)	S389P	possibly damaging	Het
Prkca	A	G	11: 107,944,806 (GRCm39)	V175A	probably benign	Het
Rassf7	C	A	7: 140,796,973 (GRCm39)		probably null	Het
Rbl2	A	G	8: 91,805,560 (GRCm39)	I206V	probably benign	Het
Rnf111	A	T	9: 70,366,378 (GRCm39)	H353Q	probably benign	Het
Rpn1	T	G	6: 88,070,841 (GRCm39)	V237G	probably damaging	Het
Sec61a2	T	A	2: 5,881,351 (GRCm39)	I267F	possibly damaging	Het
Spop	G	T	11: 95,376,669 (GRCm39)	V241F	probably damaging	Het
Sptbn2	C	T	19: 4,775,978 (GRCm39)	A178V	probably damaging	Het
Stard13	A	G	5: 150,969,366 (GRCm39)	Y791H	probably benign	Het
Susd2	T	A	10: 75,478,052 (GRCm39)	I113L	probably benign	Het
Tcof1	T	C	18: 60,964,628 (GRCm39)	E666G	possibly damaging	Het
Tekt5	G	T	16: 10,179,254 (GRCm39)	A371E	possibly damaging	Het
Thap11	G	A	8: 106,582,548 (GRCm39)	E186K	probably damaging	Het
Tk2	A	T	8: 104,974,315 (GRCm39)	D45E	possibly damaging	Het
Tuba8	C	A	6: 121,199,872 (GRCm39)	Y185*	probably null	Het
Usp24	T	A	4: 106,273,244 (GRCm39)	Y2210N	probably damaging	Het
Wfdc8	A	T	2: 164,439,239 (GRCm39)		probably benign	Het
Zar1l	T	C	5: 150,436,365 (GRCm39)	N237S	probably damaging	Het
Zfp607b	A	T	7: 27,402,032 (GRCm39)	T163S	probably benign	Het
Zfp619	C	A	7: 39,184,577 (GRCm39)	H202Q	probably benign	Het

Other mutations in Actl11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Actl11	APN	9	107,806,181 (GRCm39)	missense	possibly damaging	0.49
IGL01396:Actl11	APN	9	107,805,964 (GRCm39)	missense	possibly damaging	0.71
IGL01622:Actl11	APN	9	107,805,775 (GRCm39)	missense	probably benign	0.03
IGL01623:Actl11	APN	9	107,805,775 (GRCm39)	missense	probably benign	0.03
IGL01660:Actl11	APN	9	107,806,247 (GRCm39)	missense	probably benign
IGL01912:Actl11	APN	9	107,806,844 (GRCm39)	missense	probably damaging	0.98
IGL02002:Actl11	APN	9	107,806,529 (GRCm39)	missense	probably benign	0.08
IGL02266:Actl11	APN	9	107,808,382 (GRCm39)	missense	possibly damaging	0.76
IGL02535:Actl11	APN	9	107,807,136 (GRCm39)	missense	possibly damaging	0.71
IGL02692:Actl11	APN	9	107,806,507 (GRCm39)	missense	probably benign	0.06
IGL02744:Actl11	APN	9	107,807,061 (GRCm39)	missense	probably benign	0.04
IGL02864:Actl11	APN	9	107,806,186 (GRCm39)	missense	probably benign	0.25
IGL03037:Actl11	APN	9	107,807,294 (GRCm39)	missense	probably damaging	0.99
IGL03085:Actl11	APN	9	107,806,749 (GRCm39)	missense	probably damaging	0.98
R0167:Actl11	UTSW	9	107,806,969 (GRCm39)	missense	probably damaging	1.00
R0304:Actl11	UTSW	9	107,806,967 (GRCm39)	missense	probably damaging	1.00
R0959:Actl11	UTSW	9	107,808,434 (GRCm39)	missense	probably damaging	1.00
R1499:Actl11	UTSW	9	107,808,682 (GRCm39)	missense	probably damaging	1.00
R1616:Actl11	UTSW	9	107,809,135 (GRCm39)	missense	probably benign	0.39
R1694:Actl11	UTSW	9	107,807,207 (GRCm39)	missense	probably damaging	1.00
R1927:Actl11	UTSW	9	107,806,736 (GRCm39)	missense	possibly damaging	0.88
R2081:Actl11	UTSW	9	107,807,396 (GRCm39)	missense	probably benign
R2939:Actl11	UTSW	9	107,808,409 (GRCm39)	missense	possibly damaging	0.84
R3427:Actl11	UTSW	9	107,806,969 (GRCm39)	missense	probably damaging	1.00
R4812:Actl11	UTSW	9	107,808,329 (GRCm39)	missense	probably damaging	0.99
R4843:Actl11	UTSW	9	107,806,691 (GRCm39)	missense	possibly damaging	0.61
R4972:Actl11	UTSW	9	107,807,155 (GRCm39)	missense	probably benign	0.07
R4989:Actl11	UTSW	9	107,808,615 (GRCm39)	missense	probably damaging	1.00
R4996:Actl11	UTSW	9	107,808,934 (GRCm39)	missense	possibly damaging	0.77
R5320:Actl11	UTSW	9	107,808,203 (GRCm39)	missense	possibly damaging	0.73
R5810:Actl11	UTSW	9	107,806,420 (GRCm39)	missense	probably benign	0.23
R6302:Actl11	UTSW	9	107,806,772 (GRCm39)	missense	probably benign	0.12
R6412:Actl11	UTSW	9	107,807,116 (GRCm39)	missense	probably benign	0.01
R6835:Actl11	UTSW	9	107,807,761 (GRCm39)	missense	probably benign
R6891:Actl11	UTSW	9	107,806,346 (GRCm39)	missense	probably benign	0.03
R7195:Actl11	UTSW	9	107,806,069 (GRCm39)	nonsense	probably null
R7212:Actl11	UTSW	9	107,805,856 (GRCm39)	missense	probably damaging	0.99
R8478:Actl11	UTSW	9	107,805,844 (GRCm39)	missense	possibly damaging	0.81
R8670:Actl11	UTSW	9	107,805,959 (GRCm39)	missense	possibly damaging	0.76
R8683:Actl11	UTSW	9	107,806,065 (GRCm39)	missense	probably benign	0.15
R9114:Actl11	UTSW	9	107,808,509 (GRCm39)	missense	possibly damaging	0.62
R9233:Actl11	UTSW	9	107,807,900 (GRCm39)	missense	possibly damaging	0.91
R9280:Actl11	UTSW	9	107,808,573 (GRCm39)	missense	probably damaging	1.00
R9361:Actl11	UTSW	9	107,805,824 (GRCm39)	missense	probably damaging	1.00
R9565:Actl11	UTSW	9	107,808,121 (GRCm39)	missense	possibly damaging	0.92
X0024:Actl11	UTSW	9	107,807,704 (GRCm39)	missense	probably benign	0.01
Z1176:Actl11	UTSW	9	107,808,899 (GRCm39)	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- GTGCCAATCCAGCAATCTGAG -3'
(R):5'- GTGTGAGACCTACAAGCACTGC -3'

Sequencing Primer
(F):5'- GTACCCTGCAAAGAAGTGTCTAGTC -3'
(R):5'- TACAAGCACTGCCCGTGAG -3'

Posted On

2016-10-24