Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03208:Fastkd2'

413195

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fastkd2

Ensembl Gene

ENSMUSG00000025962

Gene Name

FAST kinase domains 2

Synonyms

2810421I24Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03208

Quality Score

Status

Chromosome

Chromosomal Location

63730614-63754655 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 63739206 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 413 (E413K)

Ref Sequence

ENSEMBL: ENSMUSP00000027103 (fasta)

Gene Model

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

AlphaFold

Q922E6

Predicted Effect

probably damaging
Transcript: ENSMUST00000027103
AA Change: E413K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027103
Gene: ENSMUSG00000025962
AA Change: E413K

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	T	C	4: 40,186,424	V612A	possibly damaging	Het
Cd72	T	A	4: 43,452,337	T195S	probably damaging	Het
Cluh	C	A	11: 74,669,506		probably null	Het
Cntn3	T	C	6: 102,187,099	Y882C	probably damaging	Het
Ctnnal1	T	A	4: 56,813,833	K645N	probably benign	Het
Entpd6	T	A	2: 150,768,918	Y385N	probably damaging	Het
Epha3	T	C	16: 63,611,089	Y484C	probably damaging	Het
Exo1	G	A	1: 175,896,245	A386T	probably benign	Het
Fam149b	T	C	14: 20,351,302		probably benign	Het
Fbxl3	A	T	14: 103,082,940	L405*	probably null	Het
Gpr75	A	T	11: 30,892,699	I535F	probably damaging	Het
Irf2	A	C	8: 46,807,305	I53L	probably damaging	Het
Lca5l	T	C	16: 96,178,846	E28G	probably damaging	Het
Mon2	A	G	10: 123,018,069		probably benign	Het
Olfr419	A	G	1: 174,250,393	F178S	probably damaging	Het
Olfr503	T	C	7: 108,545,119	V196A	probably benign	Het
Plekhm1	T	C	11: 103,376,770	K792E	probably benign	Het
Ppp1r14c	A	T	10: 3,423,531	D114V	probably damaging	Het
Rnf20	G	T	4: 49,645,706		probably benign	Het
Srgap1	G	A	10: 121,792,266	P934S	possibly damaging	Het
Sult2b1	T	C	7: 45,733,629	E243G	probably damaging	Het
Tecta	A	G	9: 42,337,100		probably benign	Het
Tshr	T	C	12: 91,533,942	L147P	probably damaging	Het
Vmn1r67	T	A	7: 10,447,098	S96R	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
IGL02992:Fastkd2	APN	1	63737924	splice site	probably benign
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