Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01067:Fastkd2'

50189

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 #

IGL01067

Quality Score

Status

Chromosome

Chromosomal Location

63769758-63792544 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 63776930 bp (GRCm39)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
A330008L17Rik	T	C	8: 100,148,586 (GRCm39)		noncoding transcript	Het
Acp4	C	T	7: 43,902,876 (GRCm39)	V331I	probably benign	Het
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Alg6	T	C	4: 99,629,807 (GRCm39)	V128A	probably benign	Het
Ank3	A	G	10: 69,686,026 (GRCm39)	K280E	probably damaging	Het
Bfar	T	C	16: 13,503,105 (GRCm39)	C36R	probably damaging	Het
Car14	A	G	3: 95,806,128 (GRCm39)	I311T	probably damaging	Het
Cd300c	T	C	11: 114,851,253 (GRCm39)		probably benign	Het
Cfap100	T	A	6: 90,383,096 (GRCm39)	E513V	probably damaging	Het
Clip1	C	A	5: 123,768,867 (GRCm39)	K612N	probably damaging	Het
Depdc5	A	G	5: 33,056,411 (GRCm39)		probably null	Het
Dock3	A	T	9: 106,959,572 (GRCm39)		probably null	Het
Dph6	A	T	2: 114,478,290 (GRCm39)	M17K	probably damaging	Het
Enkur	T	C	2: 21,194,042 (GRCm39)	Q177R	probably benign	Het
Faap100	T	C	11: 120,262,958 (GRCm39)	H800R	probably damaging	Het
Fcgr2b	A	T	1: 170,795,622 (GRCm39)	N102K	possibly damaging	Het
Fezf1	C	T	6: 23,247,842 (GRCm39)	V78I	possibly damaging	Het
Fmn2	A	T	1: 174,330,885 (GRCm39)	D425V	unknown	Het
Fnta	G	A	8: 26,497,229 (GRCm39)	Q207*	probably null	Het
Fpr3	T	A	17: 18,190,828 (GRCm39)	V33D	probably benign	Het
Fshr	C	T	17: 89,292,821 (GRCm39)	C619Y	possibly damaging	Het
Gbp3	T	C	3: 142,272,358 (GRCm39)		probably null	Het
Gjb2	A	G	14: 57,337,629 (GRCm39)	V193A	possibly damaging	Het
Il4ra	A	G	7: 125,174,333 (GRCm39)	T292A	probably benign	Het
Lama5	A	G	2: 179,818,336 (GRCm39)		probably benign	Het
Marveld3	G	T	8: 110,688,596 (GRCm39)	D48E	possibly damaging	Het
Meox1	A	T	11: 101,784,599 (GRCm39)	I78N	probably benign	Het
Ncor1	A	T	11: 62,283,354 (GRCm39)	H444Q	probably damaging	Het
Ndst3	T	C	3: 123,340,466 (GRCm39)	Q784R	probably damaging	Het
Or10ag2	A	G	2: 87,248,714 (GRCm39)	I107M	probably benign	Het
Or4k44	T	A	2: 111,368,359 (GRCm39)	I92F	probably damaging	Het
Pld5	A	T	1: 176,102,445 (GRCm39)		probably benign	Het
Plk1	G	A	7: 121,768,148 (GRCm39)	R456H	probably damaging	Het
Polr2a	T	A	11: 69,638,840 (GRCm39)	I65F	possibly damaging	Het
Ptprd	T	A	4: 75,977,922 (GRCm39)	I196F	probably damaging	Het
Qsox2	T	C	2: 26,118,408 (GRCm39)	N121S	probably damaging	Het
Reln	A	G	5: 22,184,664 (GRCm39)	L1617S	probably damaging	Het
Rragc	T	C	4: 123,823,761 (GRCm39)	F345L	probably benign	Het
Sass6	A	T	3: 116,407,605 (GRCm39)	E240D	possibly damaging	Het
Shcbp1l	A	C	1: 153,311,770 (GRCm39)	S308R	possibly damaging	Het
Slc1a5	T	A	7: 16,520,804 (GRCm39)	C224*	probably null	Het
Slc27a5	T	C	7: 12,722,999 (GRCm39)	E567G	probably damaging	Het
Synj2	T	A	17: 6,088,201 (GRCm39)	N1417K	possibly damaging	Het
Tbc1d9	A	G	8: 83,960,791 (GRCm39)	T214A	probably damaging	Het
Tjp3	C	A	10: 81,109,699 (GRCm39)	V835L	probably benign	Het
Trpc4	C	A	3: 54,129,983 (GRCm39)	Q250K	probably benign	Het
Ttn	A	T	2: 76,575,506 (GRCm39)	I25129N	probably damaging	Het
Ube4a	T	A	9: 44,856,163 (GRCm39)	Y523F	probably damaging	Het
Zfp971	G	A	2: 177,665,175 (GRCm39)		probably null	Het

Other mutations in Fastkd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01890:Fastkd2	APN	1	63,771,320 (GRCm39)	missense	probably benign	0.06
IGL02698:Fastkd2	APN	1	63,787,158 (GRCm39)	missense	probably benign	0.01
IGL02992:Fastkd2	APN	1	63,777,083 (GRCm39)	splice site	probably benign
IGL03208:Fastkd2	APN	1	63,778,365 (GRCm39)	missense	probably damaging	1.00
R0172:Fastkd2	UTSW	1	63,771,187 (GRCm39)	missense	possibly damaging	0.78
R0304:Fastkd2	UTSW	1	63,791,559 (GRCm39)	missense	possibly damaging	0.46
R0385:Fastkd2	UTSW	1	63,776,970 (GRCm39)	missense	probably benign	0.01
R0486:Fastkd2	UTSW	1	63,791,499 (GRCm39)	missense	possibly damaging	0.61
R1115:Fastkd2	UTSW	1	63,787,114 (GRCm39)	splice site	probably benign
R1468:Fastkd2	UTSW	1	63,771,385 (GRCm39)	unclassified	probably benign
R1579:Fastkd2	UTSW	1	63,785,046 (GRCm39)	missense	probably null	0.00
R1729:Fastkd2	UTSW	1	63,790,459 (GRCm39)	nonsense	probably null
R3937:Fastkd2	UTSW	1	63,776,995 (GRCm39)	missense	possibly damaging	0.48
R4326:Fastkd2	UTSW	1	63,791,516 (GRCm39)	missense	probably benign	0.07
R4327:Fastkd2	UTSW	1	63,791,516 (GRCm39)	missense	probably benign	0.07
R4463:Fastkd2	UTSW	1	63,774,968 (GRCm39)	intron	probably benign
R4473:Fastkd2	UTSW	1	63,770,833 (GRCm39)	missense	probably damaging	0.97
R4760:Fastkd2	UTSW	1	63,785,045 (GRCm39)	missense	probably benign	0.00
R5012:Fastkd2	UTSW	1	63,789,055 (GRCm39)	intron	probably benign
R5176:Fastkd2	UTSW	1	63,770,598 (GRCm39)	unclassified	probably benign
R5478:Fastkd2	UTSW	1	63,778,345 (GRCm39)	missense	probably benign	0.13
R5619:Fastkd2	UTSW	1	63,778,469 (GRCm39)	missense	probably benign	0.25
R6893:Fastkd2	UTSW	1	63,770,953 (GRCm39)	missense	possibly damaging	0.75
R7038:Fastkd2	UTSW	1	63,771,032 (GRCm39)	missense	possibly damaging	0.79
R7049:Fastkd2	UTSW	1	63,771,009 (GRCm39)	missense	probably benign	0.04
R7510:Fastkd2	UTSW	1	63,776,948 (GRCm39)	missense	possibly damaging	0.83
R7810:Fastkd2	UTSW	1	63,770,851 (GRCm39)	missense	possibly damaging	0.61
R7889:Fastkd2	UTSW	1	63,774,619 (GRCm39)	splice site	probably null
R8263:Fastkd2	UTSW	1	63,770,968 (GRCm39)	missense	probably benign	0.03
R8271:Fastkd2	UTSW	1	63,787,183 (GRCm39)	missense	probably benign	0.26
R8321:Fastkd2	UTSW	1	63,787,138 (GRCm39)	missense	probably benign	0.00
R8468:Fastkd2	UTSW	1	63,770,923 (GRCm39)	missense	probably benign	0.06
R8767:Fastkd2	UTSW	1	63,775,080 (GRCm39)	missense	probably benign	0.00
Z1177:Fastkd2	UTSW	1	63,773,996 (GRCm39)	critical splice donor site	probably null
Z1177:Fastkd2	UTSW	1	63,773,995 (GRCm39)	critical splice donor site	probably null

Posted On

2013-06-21