Mutagenetix > Incidental Mutation

Incidental Mutation 'R8321:Fastkd2'

641931

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 #

R8321 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63730614-63754655 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63747979 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 524 (H524R)

Ref Sequence

ENSEMBL: ENSMUSP00000027103 (fasta)

Gene Model

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

AlphaFold

Q922E6

Predicted Effect

probably benign
Transcript: ENSMUST00000027103
AA Change: H524R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000027103
Gene: ENSMUSG00000025962
AA Change: H524R

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: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230113P08Rik	G	T	9: 35,909,453	C111F	probably damaging	Het
Arhgap44	A	G	11: 65,008,227	V708A	probably benign	Het
Atg9a	G	A	1: 75,185,698	Q523*	probably null	Het
Bank1	T	A	3: 136,234,634	E329V	possibly damaging	Het
Ccdc162	C	A	10: 41,634,033	A859S	probably damaging	Het
Cdh11	T	C	8: 102,634,784	R641G	probably damaging	Het
Cfap58	A	G	19: 47,958,147	E373G	probably damaging	Het
Chd8	T	C	14: 52,232,567	T529A	probably benign	Het
Chtf18	G	A	17: 25,720,891	T747I	probably benign	Het
Cyp2j6	A	G	4: 96,553,447	L2P	probably benign	Het
Cyp4f18	G	A	8: 71,988,583	P518S	possibly damaging	Het
Dmrtc1a	G	A	X: 102,908,615	R8W	probably benign	Het
Dpyd	T	C	3: 118,781,924	V137A	possibly damaging	Het
Epha6	A	G	16: 59,915,954	V739A	probably damaging	Het
Ern2	C	T	7: 122,173,208	A676T	probably damaging	Het
Fam20c	A	T	5: 138,757,931	I241F	possibly damaging	Het
Foxq1	T	C	13: 31,559,268	Y118H	probably damaging	Het
Gfm1	C	T	3: 67,430,261	A8V	probably benign	Het
Gfm2	C	T	13: 97,162,992	T407M	possibly damaging	Het
Gldc	G	A	19: 30,143,407	Q375*	probably null	Het
Gm5114	A	G	7: 39,410,849	I192T	possibly damaging	Het
Gnb1	A	T	4: 155,555,025	N237I	possibly damaging	Het
Herc2	C	T	7: 56,229,348	P4662S	possibly damaging	Het
Herc3	C	T	6: 58,843,769	S46F	possibly damaging	Het
Hgsnat	C	T	8: 25,971,151	G153E	possibly damaging	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Igkv2-137	GA	GAA	6: 67,556,170		probably null	Het
Invs	T	A	4: 48,283,267	D6E	probably benign	Het
Jakmip3	T	C	7: 139,026,884	V463A	probably benign	Het
Jarid2	T	A	13: 44,848,386	S96R	probably damaging	Het
Krtap6-1	A	C	16: 89,031,736	N7H	unknown	Het
Matn4	A	T	2: 164,393,287	V455D	probably damaging	Het
Nbea	G	A	3: 56,183,097	P47S	possibly damaging	Het
Oit3	T	C	10: 59,428,160	H384R	probably benign	Het
Olfr387-ps1	G	A	11: 73,665,536	R309H	unknown	Het
Olfr901	A	T	9: 38,430,554	I91F	probably damaging	Het
Pabpc4l	T	A	3: 46,446,294	D305V	probably damaging	Het
Papln	G	A	12: 83,774,941	W314*	probably null	Het
Pask	G	A	1: 93,320,655	R975C	possibly damaging	Het
Plce1	A	G	19: 38,651,936	N542S	probably benign	Het
Rasal1	C	T	5: 120,666,355	R431C	probably benign	Het
Rnf17	TG	T	14: 56,424,542	132	probably null	Het
Sez6l2	C	A	7: 126,958,416	T334N	probably damaging	Het
Sh3d19	A	G	3: 86,093,764	T256A	probably damaging	Het
Slit2	A	T	5: 48,230,267	N545Y	probably damaging	Het
Sprtn	A	T	8: 124,903,255	D429V	possibly damaging	Het
Srcap	T	C	7: 127,540,896	V1389A	probably damaging	Het
Tecta	C	A	9: 42,373,053	C912F	probably damaging	Het
Tns1	T	A	1: 73,985,780		probably null	Het
Tprgl	A	G	4: 154,160,403	V76A	probably benign	Het
Trav12-2	G	T	14: 53,616,383		probably benign	Het
Trio	T	C	15: 27,881,326	D612G	possibly damaging	Het
Usp6nl	A	T	2: 6,391,089	Q36H	possibly damaging	Het
Vps9d1	A	T	8: 123,248,805	M167K	possibly damaging	Het
Zfhx4	T	A	3: 5,401,127	L2140Q	probably damaging	Het
Zfp512b	A	G	2: 181,587,138	V678A	possibly damaging	Het
Zfp800	A	G	6: 28,242,993	S658P	probably damaging	Het
Zscan22	A	G	7: 12,903,698	S6G	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
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
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'- TGTAATCTCCTAATCCTTTGTCAGAAC -3'

Sequencing Primer
(F):5'- GGTGATTAGACACAAAGATACA -3'
(R):5'- GGGATGCCCATACCAATGTG -3'

Posted On

2020-07-28