Mutagenetix > Incidental Mutation

Incidental Mutation 'R4327:Fastkd2'

324394

Institutional Source

Beutler Lab

Gene Symbol

Fastkd2

Ensembl Gene

ENSMUSG00000025962

Gene Name

FAST kinase domains 2

Synonyms

2810421I24Rik

MMRRC Submission

041097-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4327 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63769758-63792544 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63791516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 675 (K675E)

Ref Sequence

ENSEMBL: ENSMUSP00000027103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027102] [ENSMUST00000027103]

AlphaFold

Q922E6

Predicted Effect

probably benign
Transcript: ENSMUST00000027102

Predicted Effect

probably benign
Transcript: ENSMUST00000027103
AA Change: K675E

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000027103
Gene: ENSMUSG00000025962
AA Change: K675E

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

0.3333

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (64/65)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	T	C	1: 53,221,664 (GRCm39)	D55G	possibly damaging	Het
Alcam	T	C	16: 52,073,579 (GRCm39)	N549S	possibly damaging	Het
Arap2	A	T	5: 62,779,206 (GRCm39)	H1461Q	possibly damaging	Het
Arhgef12	C	A	9: 42,886,525 (GRCm39)	E1152*	probably null	Het
Arrdc5	T	C	17: 56,601,420 (GRCm39)	E235G	possibly damaging	Het
Atp1a3	A	G	7: 24,687,056 (GRCm39)		probably benign	Het
Bcl2l1	A	G	2: 152,624,099 (GRCm39)	V223A	probably benign	Het
C9orf72	T	A	4: 35,225,985 (GRCm39)		probably benign	Het
Cela3b	G	T	4: 137,151,242 (GRCm39)	A137E	probably benign	Het
Col13a1	T	C	10: 61,699,758 (GRCm39)	T476A	unknown	Het
Col16a1	T	C	4: 129,988,344 (GRCm39)		probably null	Het
Ctcfl	G	A	2: 172,955,299 (GRCm39)		probably benign	Het
Cyp2j8	T	A	4: 96,395,566 (GRCm39)	T20S	probably benign	Het
Fsip2	A	T	2: 82,817,403 (GRCm39)	I4379F	probably benign	Het
Gm10722	T	C	9: 3,000,937 (GRCm39)	C6R	probably benign	Het
Hmgxb3	A	T	18: 61,300,611 (GRCm39)	M155K	probably benign	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Kcnn1	A	T	8: 71,305,307 (GRCm39)	V301E	probably damaging	Het
Kcnq4	T	C	4: 120,568,561 (GRCm39)	E385G	probably benign	Het
Klhl28	G	A	12: 64,996,952 (GRCm39)	A463V	probably damaging	Het
Lhb	A	G	7: 45,070,383 (GRCm39)	R3G	possibly damaging	Het
Lingo2	T	A	4: 35,708,462 (GRCm39)	D506V	probably damaging	Het
Macf1	C	T	4: 123,276,005 (GRCm39)	A4176T	probably damaging	Het
Marchf6	C	T	15: 31,498,887 (GRCm39)	E137K	probably benign	Het
Med12l	T	C	3: 59,172,688 (GRCm39)	S1813P	probably benign	Het
Mpp3	T	C	11: 101,914,337 (GRCm39)		probably benign	Het
Muc2	A	C	7: 141,281,577 (GRCm39)	S479R	probably damaging	Het
Or11g27	T	A	14: 50,770,971 (GRCm39)	I34N	probably benign	Het
Or12e10	G	T	2: 87,640,496 (GRCm39)	V111L	probably benign	Het
Or2t1	T	A	14: 14,328,193 (GRCm38)	F27L	probably damaging	Het
Or52n1	G	A	7: 104,382,833 (GRCm39)	T246I	probably damaging	Het
Pafah1b1	T	C	11: 74,573,066 (GRCm39)	T333A	probably benign	Het
Palm	G	A	10: 79,643,520 (GRCm39)	G83S	probably benign	Het
Pcdhb9	A	T	18: 37,534,875 (GRCm39)	S290C	probably benign	Het
Pcdhb9	G	T	18: 37,534,876 (GRCm39)	S290I	probably benign	Het
Pdgfrb	A	T	18: 61,204,792 (GRCm39)	I551F	possibly damaging	Het
Pex26	A	T	6: 121,164,373 (GRCm39)	E172V	probably damaging	Het
Pitrm1	A	G	13: 6,629,809 (GRCm39)		probably benign	Het
Ptprs	C	A	17: 56,754,468 (GRCm39)	A191S	possibly damaging	Het
Rdm1	T	A	11: 101,521,734 (GRCm39)	V92E	probably damaging	Het
Scn7a	A	G	2: 66,567,815 (GRCm39)	F260L	probably damaging	Het
Serpinb3a	T	A	1: 106,979,500 (GRCm39)	M1L	probably damaging	Het
Sh3d19	T	C	3: 86,031,020 (GRCm39)	I728T	probably benign	Het
Sin3a	T	C	9: 57,002,642 (GRCm39)	L178P	probably damaging	Het
Slc13a1	A	G	6: 24,103,478 (GRCm39)	V355A	probably benign	Het
St7	G	A	6: 17,819,287 (GRCm39)	V64M	probably damaging	Het
Tcf25	T	A	8: 124,127,882 (GRCm39)	L622*	probably null	Het
Tiam1	A	G	16: 89,652,779 (GRCm39)	V781A	possibly damaging	Het
Tigd2	C	A	6: 59,187,562 (GRCm39)	T143K	probably benign	Het
Tmem107	G	T	11: 68,962,301 (GRCm39)		probably null	Het
Tmem161b	G	A	13: 84,399,359 (GRCm39)	G5D	probably damaging	Het
Tonsl	G	A	15: 76,523,916 (GRCm39)	A28V	probably benign	Het
Treml4	T	C	17: 48,581,417 (GRCm39)	Y222H	probably damaging	Het
Trp53bp1	A	T	2: 121,087,131 (GRCm39)	V175D	probably damaging	Het
Zfp184	T	C	13: 22,144,072 (GRCm39)	Y593H	probably damaging	Het
Zfp286	A	G	11: 62,670,844 (GRCm39)	C410R	probably damaging	Het
Zfp934	T	G	13: 62,665,373 (GRCm39)	N312H	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CAGAATATGAACATGTGCATGGTG -3'
(R):5'- CCAGTGTGTTCCAAAATACCAATG -3'

Sequencing Primer
(F):5'- GAACATGTGCATGGTGATATTTAATC -3'
(R):5'- GTGTGTTCCAAAATACCAATGACAAC -3'

Posted On

2015-06-24