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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4327 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63730614-63754655 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63752357 bp (GRCm38)

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: 53,182,505	D55G	possibly damaging	Het
3110043O21Rik	T	A	4: 35,225,985		probably benign	Het
Alcam	T	C	16: 52,253,216	N549S	possibly damaging	Het
Arap2	A	T	5: 62,621,863	H1461Q	possibly damaging	Het
Arhgef12	C	A	9: 42,975,229	E1152*	probably null	Het
Arrdc5	T	C	17: 56,294,420	E235G	possibly damaging	Het
Atp1a3	A	G	7: 24,987,631		probably benign	Het
Bcl2l1	A	G	2: 152,782,179	V223A	probably benign	Het
Cela3b	G	T	4: 137,423,931	A137E	probably benign	Het
Col13a1	T	C	10: 61,863,979	T476A	unknown	Het
Col16a1	T	C	4: 130,094,551		probably null	Het
Ctcfl	G	A	2: 173,113,506		probably benign	Het
Cyp2j8	T	A	4: 96,507,329	T20S	probably benign	Het
Fsip2	A	T	2: 82,987,059	I4379F	probably benign	Het
Gm10722	T	C	9: 3,000,937	C6R	probably benign	Het
Hmgxb3	A	T	18: 61,167,539	M155K	probably benign	Het
Ip6k2	G	A	9: 108,805,648	R319Q	probably benign	Het
Kcnn1	A	T	8: 70,852,663	V301E	probably damaging	Het
Kcnq4	T	C	4: 120,711,364	E385G	probably benign	Het
Klhl28	G	A	12: 64,950,178	A463V	probably damaging	Het
Lhb	A	G	7: 45,420,959	R3G	possibly damaging	Het
Lingo2	T	A	4: 35,708,462	D506V	probably damaging	Het
Macf1	C	T	4: 123,382,212	A4176T	probably damaging	Het
March6	C	T	15: 31,498,741	E137K	probably benign	Het
Med12l	T	C	3: 59,265,267	S1813P	probably benign	Het
Mpp3	T	C	11: 102,023,511		probably benign	Het
Muc2	A	C	7: 141,695,334	S479R	probably damaging	Het
Olfr1145	G	T	2: 87,810,152	V111L	probably benign	Het
Olfr31	T	A	14: 14,328,193	F27L	probably damaging	Het
Olfr664	G	A	7: 104,733,626	T246I	probably damaging	Het
Olfr743	T	A	14: 50,533,514	I34N	probably benign	Het
Pafah1b1	T	C	11: 74,682,240	T333A	probably benign	Het
Palm	G	A	10: 79,807,686	G83S	probably benign	Het
Pcdhb9	A	T	18: 37,401,822	S290C	probably benign	Het
Pcdhb9	G	T	18: 37,401,823	S290I	probably benign	Het
Pdgfrb	A	T	18: 61,071,720	I551F	possibly damaging	Het
Pex26	A	T	6: 121,187,414	E172V	probably damaging	Het
Pitrm1	A	G	13: 6,579,773		probably benign	Het
Ptprs	C	A	17: 56,447,468	A191S	possibly damaging	Het
Rdm1	T	A	11: 101,630,908	V92E	probably damaging	Het
Scn7a	A	G	2: 66,737,471	F260L	probably damaging	Het
Serpinb3a	T	A	1: 107,051,770	M1L	probably damaging	Het
Sh3d19	T	C	3: 86,123,713	I728T	probably benign	Het
Sin3a	T	C	9: 57,095,358	L178P	probably damaging	Het
Slc13a1	A	G	6: 24,103,479	V355A	probably benign	Het
St7	G	A	6: 17,819,288	V64M	probably damaging	Het
Tcf25	T	A	8: 123,401,143	L622*	probably null	Het
Tiam1	A	G	16: 89,855,891	V781A	possibly damaging	Het
Tigd2	C	A	6: 59,210,577	T143K	probably benign	Het
Tmem107	G	T	11: 69,071,475		probably null	Het
Tmem161b	G	A	13: 84,251,240	G5D	probably damaging	Het
Tonsl	G	A	15: 76,639,716	A28V	probably benign	Het
Treml4	T	C	17: 48,274,389	Y222H	probably damaging	Het
Trp53bp1	A	T	2: 121,256,650	V175D	probably damaging	Het
Zfp184	T	C	13: 21,959,902	Y593H	probably damaging	Het
Zfp286	A	G	11: 62,780,018	C410R	probably damaging	Het
Zfp934	T	G	13: 62,517,559	N312H	probably benign	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
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
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

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