Mutagenetix > Incidental Mutation

Incidental Mutation 'R4463:Fastkd2'

330202

Institutional Source

Beutler Lab

Gene Symbol

Fastkd2

Ensembl Gene

ENSMUSG00000025962

Gene Name

FAST kinase domains 2

Synonyms

2810421I24Rik

MMRRC Submission

041721-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4463 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63769758-63792544 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 63774968 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

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (57/57)

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
Abcb1a	T	C	5: 8,769,981 (GRCm39)		probably benign	Het
Abcc8	T	C	7: 45,756,005 (GRCm39)		probably null	Het
Alox12e	A	G	11: 70,209,082 (GRCm39)	L388P	probably damaging	Het
Aspm	T	A	1: 139,382,748 (GRCm39)	S27T	possibly damaging	Het
Capn2	G	A	1: 182,307,329 (GRCm39)		probably benign	Het
Catspere1	G	A	1: 177,765,279 (GRCm39)		noncoding transcript	Het
Ccdc158	T	C	5: 92,782,159 (GRCm39)	D820G	probably null	Het
Cdkn2d	C	G	9: 21,202,185 (GRCm39)	V21L	probably benign	Het
Chd9	T	A	8: 91,705,627 (GRCm39)	D761E	probably benign	Het
Chst8	T	C	7: 34,374,645 (GRCm39)	D398G	probably damaging	Het
Clns1a	T	C	7: 97,370,156 (GRCm39)		probably benign	Het
Cyp3a57	A	T	5: 145,318,084 (GRCm39)	Y355F	probably damaging	Het
Cyp4f37	A	G	17: 32,846,710 (GRCm39)		probably null	Het
Eif1ad11	A	G	12: 87,994,129 (GRCm39)	D119G	probably benign	Het
Eipr1	G	A	12: 28,909,338 (GRCm39)	A202T	probably damaging	Het
Fam83a	T	C	15: 57,858,655 (GRCm39)	S232P	probably damaging	Het
Fcgbpl1	A	G	7: 27,850,144 (GRCm39)	M1197V	probably benign	Het
Fgfr4	G	A	13: 55,304,280 (GRCm39)	V107I	probably benign	Het
Gatad1	G	T	5: 3,697,404 (GRCm39)	S72R	probably benign	Het
Gli2	T	C	1: 118,763,738 (GRCm39)	D1471G	probably damaging	Het
Gm1330	A	T	2: 148,845,064 (GRCm39)	Y36*	probably null	Het
Gm29125	T	C	1: 80,360,903 (GRCm39)		noncoding transcript	Het
Idi1	G	A	13: 8,937,508 (GRCm39)		probably benign	Het
Itgbl1	C	T	14: 124,078,080 (GRCm39)	T190I	probably damaging	Het
Kbtbd3	G	A	9: 4,331,257 (GRCm39)	G544R	probably damaging	Het
Kifc3	T	C	8: 95,828,744 (GRCm39)	T638A	probably damaging	Het
Lama1	G	A	17: 68,068,695 (GRCm39)	C798Y	probably damaging	Het
Larp6	C	A	9: 60,644,279 (GRCm39)	H140N	probably damaging	Het
Mctp1	A	T	13: 76,860,206 (GRCm39)	D108V	probably damaging	Het
Myzap	G	T	9: 71,462,933 (GRCm39)	D204E	probably benign	Het
Neb	GCC	GC	2: 52,169,734 (GRCm39)		probably null	Het
Or13p8	T	C	4: 118,583,855 (GRCm39)	V137A	probably benign	Het
Or1j20	T	C	2: 36,760,205 (GRCm39)	I209T	probably benign	Het
Or4c102	T	C	2: 88,422,976 (GRCm39)	V276A	possibly damaging	Het
Phka1	A	G	X: 101,588,990 (GRCm39)	V818A	probably benign	Het
Plek	T	C	11: 16,931,873 (GRCm39)	Y326C	possibly damaging	Het
Pp2d1	A	G	17: 53,822,886 (GRCm39)	I60T	probably benign	Het
Prmt3	T	C	7: 49,467,837 (GRCm39)	Y348H	probably damaging	Het
Psg27	G	T	7: 18,291,010 (GRCm39)	Q398K	possibly damaging	Het
Raver1	T	C	9: 21,003,123 (GRCm39)	T51A	probably benign	Het
Ripk2	T	C	4: 16,151,968 (GRCm39)	N197S	possibly damaging	Het
Sectm1a	T	A	11: 120,960,477 (GRCm39)	I113L	probably benign	Het
Slc2a4	G	A	11: 69,834,148 (GRCm39)		probably benign	Het
Snph	A	T	2: 151,436,035 (GRCm39)	S229T	probably damaging	Het
Stpg4	A	G	17: 87,697,101 (GRCm39)	F183L	probably benign	Het
Tango6	A	T	8: 107,415,706 (GRCm39)	T176S	probably benign	Het
Vmn1r196	A	G	13: 22,477,853 (GRCm39)	Q164R	probably benign	Het
Vstm4	T	A	14: 32,639,833 (GRCm39)	L236Q	probably damaging	Het
Xylb	A	G	9: 119,215,433 (GRCm39)	D462G	probably benign	Het
Zc2hc1c	A	G	12: 85,337,071 (GRCm39)	R243G	probably damaging	Het

Other mutations in Fastkd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Fastkd2	APN	1	63,776,930 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TTTGGCCTGTCACTTCCAAAAC -3'
(R):5'- TGACAACCTTACAGATGTGGAG -3'

Sequencing Primer
(F):5'- GCCTGTCACTTCCAAAACTTTTGAG -3'
(R):5'- ACCTTACAGATGTGGAGGTCCTATAG -3'

Posted On

2015-07-21