Mutagenetix > Incidental Mutation

Incidental Mutation 'R8271:Fastkd2'

637690

Institutional Source

Beutler Lab

Gene Symbol

Fastkd2

Ensembl Gene

ENSMUSG00000025962

Gene Name

FAST kinase domains 2

Synonyms

2810421I24Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8271 (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 63748024 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 539 (T539I)

Ref Sequence

ENSEMBL: ENSMUSP00000027103 (fasta)

Gene Model

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

AlphaFold

Q922E6

Predicted Effect

probably benign
Transcript: ENSMUST00000027103
AA Change: T539I

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000027103
Gene: ENSMUSG00000025962
AA Change: T539I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	T	5: 8,686,212	I202L	probably benign	Het
Acadsb	A	T	7: 131,443,694	T452S	unknown	Het
Ago2	A	T	15: 73,119,466	L541Q	probably damaging	Het
Ap2a2	A	T	7: 141,620,899	E553V	probably damaging	Het
Astn2	T	C	4: 65,992,426	K442E	unknown	Het
Bicd1	A	G	6: 149,513,135	T449A	probably benign	Het
Btn1a1	T	A	13: 23,461,749	Q150L	probably benign	Het
C1ra	G	A	6: 124,522,651	G599R	probably damaging	Het
Camta2	T	A	11: 70,671,060	Q1076L	probably benign	Het
Capza2	T	A	6: 17,657,215	C157S	probably damaging	Het
Ccnk	A	G	12: 108,195,855		probably benign	Het
Chd3	T	A	11: 69,360,657	D516V	probably damaging	Het
Cntnap5b	A	G	1: 100,072,107	T197A	probably benign	Het
Comp	A	G	8: 70,376,460	N260S	probably damaging	Het
Dcp1a	A	G	14: 30,522,926	T570A	possibly damaging	Het
Ddx60	T	A	8: 61,940,108		probably null	Het
Defb22	C	T	2: 152,485,792	V158I	unknown	Het
Diaph3	T	C	14: 86,866,513	S812G	probably damaging	Het
Dohh	G	T	10: 81,386,010	Q79H	probably benign	Het
Dyrk1b	T	G	7: 28,182,655	V147G	probably benign	Het
Gm7534	G	T	4: 134,202,967	T9K	unknown	Het
Itpr3	G	A	17: 27,087,648	D229N	probably damaging	Het
Kcnv1	A	T	15: 45,109,358	D376E	probably benign	Het
Kif13a	C	A	13: 46,752,581	V1577F	probably benign	Het
L3mbtl4	G	A	17: 68,486,943	R314H	probably damaging	Het
Mcoln2	A	C	3: 146,192,424	N100T	unknown	Het
Mdh1b	C	T	1: 63,720,005	V143M	possibly damaging	Het
Mfsd4b4	G	T	10: 39,892,105	Q377K	probably benign	Het
Mpv17l	T	C	16: 13,944,720	F122S	probably damaging	Het
Mylk	T	C	16: 34,922,579	S1154P	probably damaging	Het
Myo5b	A	G	18: 74,627,190	Y259C	probably damaging	Het
Nek1	G	A	8: 61,105,612	V931M	probably benign	Het
Nkd2	C	A	13: 73,821,318	G343V	probably damaging	Het
Obox8	T	A	7: 14,332,003	T197S	probably benign	Het
Olfr1029	T	C	2: 85,975,422	Y60H	probably damaging	Het
Olfr1029	T	G	2: 85,975,741	M166R	probably benign	Het
Olfr1086	T	A	2: 86,676,874	H153L	probably benign	Het
Olfr1272	A	G	2: 90,282,272	F101S	possibly damaging	Het
Olfr16	T	A	1: 172,957,177	C127*	probably null	Het
Olfr309	G	A	7: 86,306,754	R120C	probably benign	Het
Olfr480	A	G	7: 108,065,773	S342P	probably damaging	Het
Palb2	A	T	7: 122,124,874	S551T	probably damaging	Het
Pcdha12	T	A	18: 37,021,900	D557E	probably damaging	Het
Pcdhb21	T	A	18: 37,515,868	D683E	probably benign	Het
Plekhb1	A	G	7: 100,656,729		probably benign	Het
Plekhg5	A	G	4: 152,103,007	N90D	probably damaging	Het
Pnpla1	A	G	17: 28,881,605	D482G	probably benign	Het
Rc3h1	A	T	1: 160,940,759		probably benign	Het
Rfpl4	C	T	7: 5,110,540	R214H	probably benign	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Setd5	T	C	6: 113,115,070	I284T	possibly damaging	Het
Smurf1	C	T	5: 144,894,087	E293K	possibly damaging	Het
Tas2r106	A	T	6: 131,678,060	I276N	probably damaging	Het
Tbc1d2	C	A	4: 46,649,791	A82S	possibly damaging	Het
Tex19.2	A	G	11: 121,117,184	I146T	possibly damaging	Het
Tmem107	T	G	11: 69,071,455	N79K	probably damaging	Het
Tpsab1	A	T	17: 25,345,331	S50T	probably benign	Het
Ttn	T	A	2: 76,723,250	K31008*	probably null	Het
Ubox5	T	C	2: 130,599,709	T353A	probably benign	Het
Usp24	T	A	4: 106,428,514	H2445Q	probably damaging	Het
Uvrag	T	C	7: 98,888,491	D499G	probably benign	Het
Xndc1	A	T	7: 102,079,136	N247I	possibly damaging	Het
Yipf2	A	T	9: 21,589,995	W226R	probably damaging	Het
Zfp335	T	A	2: 164,898,053	Q793L	probably damaging	Het
Zfp385c	A	G	11: 100,657,465	S54P	probably damaging	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
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
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'- ATGTATGCATGAAATTTAACCTGCC -3'
(R):5'- GTAATCTCCTAATCCTTTGTCAGAAC -3'

Sequencing Primer
(F):5'- GAGGTGATTAGACACAAAGATAC -3'
(R):5'- CATTTCTCGAGAAGCGTC -3'

Posted On

2020-07-28