Mutagenetix > Incidental Mutation

Incidental Mutation 'R1115:Fastkd2'

97102

Institutional Source

Beutler Lab

Gene Symbol

Fastkd2

Ensembl Gene

ENSMUSG00000025962

Gene Name

FAST kinase domains 2

Synonyms

2810421I24Rik

MMRRC Submission

039188-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1115 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63730614-63754655 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 63747955 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: ENSMUST00000123945

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128621

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131478

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134454

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.8%

Validation Efficiency

100% (34/34)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	C	A	11: 100,479,255	V994F	probably damaging	Het
Arfgap3	T	C	15: 83,330,540	T182A	probably benign	Het
Bcl2l14	T	C	6: 134,432,139		probably benign	Het
Cabin1	T	C	10: 75,717,677	M1183V	possibly damaging	Het
Ccr7	A	T	11: 99,145,277	I273K	possibly damaging	Het
Cd40	A	G	2: 165,070,761	M211V	possibly damaging	Het
Coro2b	T	G	9: 62,431,327	E208A	probably damaging	Het
Dennd5a	A	C	7: 109,918,761	M556R	probably damaging	Het
Efcab2	A	T	1: 178,437,497		probably benign	Het
Fam160a1	T	C	3: 85,722,495	E263G	probably benign	Het
Fbxw8	A	C	5: 118,077,571		probably benign	Het
Frem1	T	C	4: 83,020,770	D25G	probably benign	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Ift52	A	G	2: 163,029,782	K178R	probably benign	Het
Kit	T	C	5: 75,649,532		probably benign	Het
Map1a	T	C	2: 121,307,378		probably null	Het
Mxra7	G	T	11: 116,810,870		probably benign	Het
Myt1	C	A	2: 181,811,231	S7*	probably null	Het
Nphs1	C	T	7: 30,481,378		probably benign	Het
Olfr355	C	A	2: 36,927,502	G204V	possibly damaging	Het
Olfr63	C	T	17: 33,268,966	R81*	probably null	Het
Osgin2	A	T	4: 15,998,085	D512E	possibly damaging	Het
Pde4b	T	A	4: 102,542,155		probably benign	Het
Rasef	G	T	4: 73,748,604	T146K	possibly damaging	Het
Ren1	T	A	1: 133,356,518	V207D	probably damaging	Het
S100a8	A	G	3: 90,669,873	D59G	probably damaging	Het
Sdcbp	G	A	4: 6,377,143		probably null	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Slamf7	A	T	1: 171,639,183	D151E	probably benign	Het
Slco1b2	A	G	6: 141,683,254	M561V	probably benign	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Stard9	T	C	2: 120,692,850	I662T	probably benign	Het
Vwf	T	A	6: 125,655,065	V20D	unknown	Het
Znhit6	G	T	3: 145,594,685		probably null	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
IGL02992:Fastkd2	APN	1	63737924	splice site	probably benign
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
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

Predicted Primers

Posted On

2014-01-05