Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02992:Fastkd2'

407008

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fastkd2

Ensembl Gene

ENSMUSG00000025962

Gene Name

FAST kinase domains 2

Synonyms

2810421I24Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02992

Quality Score

Status

Chromosome

Chromosomal Location

63730614-63754655 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 63737924 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027103]

AlphaFold

Q922E6

Predicted Effect

probably benign
Transcript: ENSMUST00000027103

SMART Domains

Protein: ENSMUSP00000027103
Gene: ENSMUSG00000025962

Domain	Start	End	E-Value	Type
low complexity region	310	323	N/A	INTRINSIC
Pfam:FAST_1	443	512	2.3e-23	PFAM
low complexity region	546	557	N/A	INTRINSIC
RAP	619	675	1.66e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128621

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131478

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148758

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is localized in the mitochondrial inner compartment and that may play a role in mitochondrial apoptosis. Nonsense mutations have been reported to result in cytochrome c oxidase deficiency. [provided by RefSeq, Oct 2008]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,719,464	L684M	possibly damaging	Het
Abca4	A	G	3: 122,128,286	K1164E	probably damaging	Het
Arhgap42	G	A	9: 8,998,248		probably benign	Het
Arhgef12	T	C	9: 42,999,077	D612G	probably damaging	Het
Cpne3	T	C	4: 19,532,486	D309G	probably benign	Het
Daw1	T	C	1: 83,197,213		probably benign	Het
Daxx	T	A	17: 33,911,748	C246S	probably damaging	Het
Dpp7	T	C	2: 25,354,577	D264G	possibly damaging	Het
Dync2h1	T	A	9: 7,137,074	H1472L	probably benign	Het
Fcrls	T	G	3: 87,259,466	R73S	probably damaging	Het
Gatb	A	G	3: 85,618,916	D367G	probably damaging	Het
Gm20547	T	A	17: 34,857,119	E654V	probably damaging	Het
Gm839	T	A	6: 89,212,527		noncoding transcript	Het
Gtf2ird2	A	T	5: 134,217,614	M905L	possibly damaging	Het
Hoxb2	A	T	11: 96,353,084	I174F	probably damaging	Het
Hrh3	A	G	2: 180,100,815	V308A	probably benign	Het
Ints9	A	G	14: 64,980,164	K47E	probably benign	Het
Irak3	A	T	10: 120,182,661	Y61N	probably damaging	Het
Itpr1	A	G	6: 108,381,315	E614G	probably damaging	Het
Lgals3	A	T	14: 47,385,525	I214L	probably benign	Het
Msh4	G	T	3: 153,872,325	T444K	possibly damaging	Het
Myh7b	C	A	2: 155,621,410	Q521K	probably damaging	Het
Naip5	T	A	13: 100,223,028	I567F	probably damaging	Het
Nf1	A	G	11: 79,434,933		probably benign	Het
Nlrc3	C	T	16: 3,954,023		probably benign	Het
Nlrc5	A	C	8: 94,506,573	E1353A	possibly damaging	Het
Nr1h3	T	A	2: 91,190,566	I260F	probably damaging	Het
Pcnx	G	A	12: 81,964,120	R1211Q	probably damaging	Het
Pde10a	A	G	17: 8,949,461	K605E	probably damaging	Het
Pdzd2	T	C	15: 12,382,622	E1215G	possibly damaging	Het
Pex12	A	G	11: 83,297,927	S81P	probably damaging	Het
Pik3c2b	C	A	1: 133,066,980	Y227*	probably null	Het
Ppef2	C	T	5: 92,235,900	W450*	probably null	Het
Prkg2	T	G	5: 99,024,506	S117R	probably benign	Het
Prl3d2	A	T	13: 27,127,283	E179D	probably benign	Het
Rxfp2	T	C	5: 150,051,556	V210A	probably benign	Het
Scn10a	T	C	9: 119,609,560	T1748A	possibly damaging	Het
Sept10	T	C	10: 59,192,178	N107S	possibly damaging	Het
Smu1	T	A	4: 40,739,550	N420I	probably damaging	Het
Sos1	A	G	17: 80,419,016	F835L	probably benign	Het
Spg11	T	C	2: 122,058,398	D2164G	probably damaging	Het
Svbp	A	G	4: 119,195,930	E8G	probably damaging	Het
Tgm3	T	A	2: 130,041,979	M519K	probably damaging	Het
Tspan12	A	G	6: 21,799,877		probably null	Het
Vps52	T	C	17: 33,958,350	V122A	probably damaging	Het
Wipf1	T	C	2: 73,434,083	Y458C	probably damaging	Het
Zfp369	T	A	13: 65,294,451	D286E	possibly damaging	Het

Other mutations in Fastkd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Fastkd2	APN	1	63737771	splice site	probably benign
IGL01890:Fastkd2	APN	1	63732161	missense	probably benign	0.06
IGL02698:Fastkd2	APN	1	63747999	missense	probably benign	0.01
IGL03208:Fastkd2	APN	1	63739206	missense	probably damaging	1.00
R0172:Fastkd2	UTSW	1	63732028	missense	possibly damaging	0.78
R0304:Fastkd2	UTSW	1	63752400	missense	possibly damaging	0.46
R0385:Fastkd2	UTSW	1	63737811	missense	probably benign	0.01
R0486:Fastkd2	UTSW	1	63752340	missense	possibly damaging	0.61
R1115:Fastkd2	UTSW	1	63747955	splice site	probably benign
R1468:Fastkd2	UTSW	1	63732226	unclassified	probably benign
R1579:Fastkd2	UTSW	1	63745887	missense	probably null	0.00
R1729:Fastkd2	UTSW	1	63751300	nonsense	probably null
R3937:Fastkd2	UTSW	1	63737836	missense	possibly damaging	0.48
R4326:Fastkd2	UTSW	1	63752357	missense	probably benign	0.07
R4327:Fastkd2	UTSW	1	63752357	missense	probably benign	0.07
R4463:Fastkd2	UTSW	1	63735809	intron	probably benign
R4473:Fastkd2	UTSW	1	63731674	missense	probably damaging	0.97
R4760:Fastkd2	UTSW	1	63745886	missense	probably benign	0.00
R5012:Fastkd2	UTSW	1	63749896	intron	probably benign
R5176:Fastkd2	UTSW	1	63731439	unclassified	probably benign
R5478:Fastkd2	UTSW	1	63739186	missense	probably benign	0.13
R5619:Fastkd2	UTSW	1	63739310	missense	probably benign	0.25
R6893:Fastkd2	UTSW	1	63731794	missense	possibly damaging	0.75
R7038:Fastkd2	UTSW	1	63731873	missense	possibly damaging	0.79
R7049:Fastkd2	UTSW	1	63731850	missense	probably benign	0.04
R7510:Fastkd2	UTSW	1	63737789	missense	possibly damaging	0.83
R7810:Fastkd2	UTSW	1	63731692	missense	possibly damaging	0.61
R7889:Fastkd2	UTSW	1	63735460	splice site	probably null
R8263:Fastkd2	UTSW	1	63731809	missense	probably benign	0.03
R8271:Fastkd2	UTSW	1	63748024	missense	probably benign	0.26
R8321:Fastkd2	UTSW	1	63747979	missense	probably benign	0.00
R8468:Fastkd2	UTSW	1	63731764	missense	probably benign	0.06
R8767:Fastkd2	UTSW	1	63735921	missense	probably benign	0.00
Z1177:Fastkd2	UTSW	1	63734836	critical splice donor site	probably null
Z1177:Fastkd2	UTSW	1	63734837	critical splice donor site	probably null

Posted On

2016-08-02