Mutagenetix > Incidental Mutation

Incidental Mutation 'R6893:Fastkd2'

538138

Institutional Source

Beutler Lab

Gene Symbol

Fastkd2

Ensembl Gene

ENSMUSG00000025962

Gene Name

FAST kinase domains 2

Synonyms

2810421I24Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6893 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63730614-63754655 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 63731794 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 103 (A103V)

Ref Sequence

ENSEMBL: ENSMUSP00000027103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027103] [ENSMUST00000114094]

AlphaFold

Q922E6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027103
AA Change: A103V

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000027103
Gene: ENSMUSG00000025962
AA Change: A103V

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

probably benign
Transcript: ENSMUST00000114094

SMART Domains

Protein: ENSMUSP00000109728
Gene: ENSMUSG00000025963

Domain	Start	End	E-Value	Type
low complexity region	69	81	N/A	INTRINSIC
SCOP:d1b8pa1	131	282	1e-16	SMART
PDB:5MDH\|B	131	457	3e-32	PDB
SCOP:d7mdha2	290	454	7e-18	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.7%
20x: 95.2%

Validation Efficiency

100% (49/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	T	A	8: 24,878,754	D538V	probably damaging	Het
Akap9	T	C	5: 3,961,709	I804T	probably benign	Het
Amy1	T	C	3: 113,563,632	E186G	probably benign	Het
Best1	A	G	19: 9,997,082	Y33H	probably damaging	Het
Cacna1s	C	A	1: 136,077,693	N405K	probably benign	Het
Casp7	T	C	19: 56,433,309	Y60H	probably damaging	Het
Ccdc61	T	C	7: 18,892,563	N367S	possibly damaging	Het
Cnksr3	A	T	10: 7,135,129		probably null	Het
Col14a1	A	C	15: 55,444,648		probably benign	Het
Cyp3a57	A	T	5: 145,386,974	K424*	probably null	Het
Dpep3	T	C	8: 105,973,842	K411E	probably benign	Het
Ebf2	T	A	14: 67,237,559	V81E	probably benign	Het
Ehbp1	G	T	11: 22,014,945	T1084K	probably damaging	Het
Gm13762	A	G	2: 88,973,799	F31L	probably benign	Het
Gtf3c2	T	C	5: 31,166,378	K525E	probably benign	Het
Hdac2	A	G	10: 36,997,007	E287G	probably damaging	Het
Ifi207	T	A	1: 173,727,642	T832S	possibly damaging	Het
Igf1	G	C	10: 87,864,860	V49L	probably damaging	Het
Lef1	A	G	3: 131,115,500	D55G	possibly damaging	Het
Lipo2	G	T	19: 33,721,007	Y323*	probably null	Het
Mettl24	C	T	10: 40,737,798	R178C	probably damaging	Het
Nat6	A	G	9: 107,583,026	E40G	probably damaging	Het
Ndrg4	C	A	8: 95,706,601	C66*	probably null	Het
Nemf	A	G	12: 69,352,336	V140A	probably benign	Het
Nid2	T	A	14: 19,789,787	F815I	probably benign	Het
Olfr1076	A	G	2: 86,508,792	E111G	probably damaging	Het
Olfr1459	A	C	19: 13,145,742	S306A	probably benign	Het
Olfr876	A	C	9: 37,804,845	*311C	probably null	Het
Olfr918	A	T	9: 38,673,059	N141K	possibly damaging	Het
Pcdhga3	T	C	18: 37,676,545	S684P	probably benign	Het
Plch1	A	T	3: 63,753,141	C352*	probably null	Het
Plscr2	G	A	9: 92,290,704	V139I	probably benign	Het
Ppa1	T	A	10: 61,672,403	C270S	probably benign	Het
Ryr2	T	A	13: 11,829,654	M399L	possibly damaging	Het
Scn3a	A	G	2: 65,525,754	V212A	possibly damaging	Het
Serpina3b	A	G	12: 104,133,026	K267E	probably benign	Het
Shroom3	A	G	5: 92,942,204	T938A	probably damaging	Het
Specc1	A	C	11: 62,132,453	S115R	probably benign	Het
Stim2	C	T	5: 54,053,445	T74I	probably benign	Het
Sult6b2	T	A	6: 142,804,299	D31V	possibly damaging	Het
Tbc1d24	A	T	17: 24,182,518	W406R	probably damaging	Het
Tmprss11b	A	G	5: 86,663,386		probably null	Het
Trappc9	A	G	15: 72,925,650	Y575H	possibly damaging	Het
Trim63	C	T	4: 134,323,101	T232M	probably damaging	Het
Ttn	A	T	2: 76,767,836	S19578T	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Wdr63	T	C	3: 146,080,429	E366G	probably damaging	Het
Xpo4	T	A	14: 57,582,310	E1139D	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
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
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'- CATTGGGAACTTGCAGACCAG -3'
(R):5'- GTGCTTTTGAAAATGTGTCCAGC -3'

Sequencing Primer
(F):5'- GAACTTGCAGACCAGAGGTTATTC -3'
(R):5'- GTGTCCAGCACATCACTCAGAGAG -3'

Posted On

2018-11-06