Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01912:Actl11'

179832

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Actl11

Ensembl Gene

ENSMUSG00000066368

Gene Name

actin-like 11

Synonyms

4921517D21Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01912

Quality Score

Status

Chromosome

Chromosomal Location

107805668-107809660 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 107806844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 389 (P389Q)

Ref Sequence

ENSEMBL: ENSMUSP00000082150 (fasta)

Gene Model

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

AlphaFold

Q9D5V1

Predicted Effect

probably damaging
Transcript: ENSMUST00000085073
AA Change: P389Q

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000082150
Gene: ENSMUSG00000066368
AA Change: P389Q

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	T	7: 45,769,934 (GRCm39)	D860E	probably damaging	Het
Bsg	G	T	10: 79,545,974 (GRCm39)	G103W	probably null	Het
Camk2d	T	A	3: 126,604,281 (GRCm39)		probably null	Het
Clcn7	T	C	17: 25,371,983 (GRCm39)		probably benign	Het
Dctd	C	T	8: 48,564,697 (GRCm39)		probably benign	Het
Dpy19l1	C	T	9: 24,396,365 (GRCm39)	R117Q	probably damaging	Het
Esyt2	T	C	12: 116,303,229 (GRCm39)	I289T	probably damaging	Het
Exoc6b	A	C	6: 84,602,156 (GRCm39)	C753G	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm3633	T	C	14: 42,462,743 (GRCm39)		probably benign	Het
Hrh3	A	T	2: 179,743,169 (GRCm39)	V153D	probably damaging	Het
Krt77	T	A	15: 101,772,286 (GRCm39)		probably benign	Het
Nat3	T	A	8: 68,000,398 (GRCm39)	C92*	probably null	Het
Nckap1l	T	A	15: 103,382,573 (GRCm39)	L525M	probably benign	Het
Nrp2	T	A	1: 62,810,896 (GRCm39)	C646S	probably damaging	Het
Or10a3m	T	C	7: 108,313,465 (GRCm39)	Y290H	possibly damaging	Het
Or2ag16	T	A	7: 106,352,199 (GRCm39)	Y132F	probably damaging	Het
Or52n20	T	C	7: 104,320,440 (GRCm39)	I177T	possibly damaging	Het
Orc1	T	C	4: 108,447,941 (GRCm39)	Y63H	probably damaging	Het
Otud4	T	C	8: 80,400,466 (GRCm39)	V1059A	probably benign	Het
Ptprm	A	G	17: 67,353,113 (GRCm39)	V235A	probably benign	Het
Rab3ip	G	T	10: 116,742,997 (GRCm39)	Q443K	probably benign	Het
Tnc	C	A	4: 63,926,977 (GRCm39)	D850Y	probably damaging	Het
Ubxn2b	T	A	4: 6,203,767 (GRCm39)		probably null	Het
Vmn1r233	T	A	17: 21,214,467 (GRCm39)	Y161F	probably benign	Het
Vmn1r54	T	C	6: 90,246,442 (GRCm39)	S119P	probably damaging	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
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
R5546:Actl11	UTSW	9	107,806,832 (GRCm39)	missense	probably benign	0.00
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

Posted On

2014-05-07