Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01898:Actl10'

179451

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Actl10

Ensembl Gene

ENSMUSG00000078129

Gene Name

actin-like 10

Synonyms

1700007I08Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01898

Quality Score

Status

Chromosome

Chromosomal Location

154393696-154395196 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 154394633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 195 (D195V)

Ref Sequence

ENSEMBL: ENSMUSP00000100532 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000895] [ENSMUST00000045116] [ENSMUST00000104928] [ENSMUST00000109709] [ENSMUST00000109716] [ENSMUST00000125793] [ENSMUST00000226583]

AlphaFold

A2AKE7

Predicted Effect

probably benign
Transcript: ENSMUST00000000895

SMART Domains

Protein: ENSMUSP00000000895
Gene: ENSMUSG00000027489

Domain	Start	End	E-Value	Type
Pfam:EF-hand_1	31	58	7.3e-8	PFAM
Pfam:EF-hand_5	32	57	4.6e-9	PFAM
low complexity region	180	203	N/A	INTRINSIC
coiled coil region	209	237	N/A	INTRINSIC
Pfam:ABM	252	327	4.4e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000045116

SMART Domains

Protein: ENSMUSP00000035523
Gene: ENSMUSG00000038523

Domain	Start	End	E-Value	Type
Pfam:Bclt	1	194	2.1e-90	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000104928
AA Change: D195V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000100532
Gene: ENSMUSG00000078129
AA Change: D195V

Domain	Start	End	E-Value	Type
ACTIN	2	345	2.52e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109709

SMART Domains

Protein: ENSMUSP00000105331
Gene: ENSMUSG00000038523

Domain	Start	End	E-Value	Type
Pfam:Bclt	1	207	1.9e-105	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109716

SMART Domains

Protein: ENSMUSP00000105338
Gene: ENSMUSG00000027489

Domain	Start	End	E-Value	Type
Pfam:EF-hand_1	31	59	6.9e-8	PFAM
Pfam:EF-hand_5	32	57	1.7e-9	PFAM
low complexity region	180	203	N/A	INTRINSIC
Pfam:ABM	232	303	2.7e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124382

Predicted Effect

probably benign
Transcript: ENSMUST00000125793

SMART Domains

Protein: ENSMUSP00000117090
Gene: ENSMUSG00000027489

Domain	Start	End	E-Value	Type
low complexity region	146	168	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135641

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135530

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149725

Predicted Effect

probably damaging
Transcript: ENSMUST00000226583
AA Change: D94V

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aqp11	A	G	7: 97,375,870 (GRCm39)	W260R	probably benign	Het
Atp8a2	T	C	14: 60,260,962 (GRCm39)	T390A	probably damaging	Het
Atp8b4	T	C	2: 126,231,281 (GRCm39)	N431S	probably benign	Het
Ccdc110	T	G	8: 46,395,161 (GRCm39)	S351A	possibly damaging	Het
Cntnap4	T	C	8: 113,582,939 (GRCm39)	F1006L	possibly damaging	Het
Ddr2	A	G	1: 169,825,725 (GRCm39)	F292L	possibly damaging	Het
F830104G03Rik	G	A	3: 56,797,637 (GRCm39)	Q97*	probably null	Het
Fam171a2	T	C	11: 102,330,582 (GRCm39)	T267A	possibly 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
Igkv5-43	T	A	6: 69,752,876 (GRCm39)	K69*	probably null	Het
Mios	T	C	6: 8,222,668 (GRCm39)	I534T	probably benign	Het
Nus1	A	G	10: 52,306,163 (GRCm39)	D185G	probably benign	Het
Proc	A	G	18: 32,266,198 (GRCm39)		probably null	Het
Psma3	T	A	12: 71,031,448 (GRCm39)	H36Q	probably benign	Het
Sh3rf3	G	T	10: 58,885,352 (GRCm39)	A412S	probably damaging	Het
Smgc	A	T	15: 91,728,727 (GRCm39)		probably null	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Spta1	T	A	1: 174,041,428 (GRCm39)	S1297R	probably benign	Het
Steap3	T	C	1: 120,169,304 (GRCm39)	D293G	probably benign	Het
Tbx18	A	T	9: 87,589,912 (GRCm39)	M342K	possibly damaging	Het
Trip11	T	C	12: 101,851,935 (GRCm39)	M425V	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het

Other mutations in Actl10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0394:Actl10	UTSW	2	154,394,957 (GRCm39)	missense	probably benign
R1055:Actl10	UTSW	2	154,394,588 (GRCm39)	missense	probably benign	0.22
R1837:Actl10	UTSW	2	154,394,962 (GRCm39)	missense	probably damaging	1.00
R2122:Actl10	UTSW	2	154,394,153 (GRCm39)	missense	probably damaging	0.99
R7100:Actl10	UTSW	2	154,394,315 (GRCm39)	missense	probably damaging	1.00
R8078:Actl10	UTSW	2	154,394,490 (GRCm39)	missense	probably benign	0.17
R8808:Actl10	UTSW	2	154,395,068 (GRCm39)	missense	probably damaging	1.00
R9650:Actl10	UTSW	2	154,394,682 (GRCm39)	missense	probably benign	0.03

Posted On

2014-05-07