Mutagenetix > Incidental Mutation

Incidental Mutation 'R0172:Fastkd2'

24248

Institutional Source

Beutler Lab

Gene Symbol

Fastkd2

Ensembl Gene

ENSMUSG00000025962

Gene Name

FAST kinase domains 2

Synonyms

2810421I24Rik

MMRRC Submission

038444-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0172 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

63769758-63792544 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63771187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 181 (I181K)

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: I181K

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000027103
Gene: ENSMUSG00000025962
AA Change: I181K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128621

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148758

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.4%

Validation Efficiency

82% (40/49)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	A	5: 138,645,578 (GRCm39)	C488S	probably damaging	Het
Abca12	T	G	1: 71,318,561 (GRCm39)	D1814A	probably damaging	Het
Acp7	T	C	7: 28,314,549 (GRCm39)	N272S	possibly damaging	Het
Ank3	T	C	10: 69,811,888 (GRCm39)	V1145A	probably damaging	Het
Ap1m2	A	T	9: 21,209,628 (GRCm39)		probably null	Het
Atp12a	T	C	14: 56,610,301 (GRCm39)	V224A	probably damaging	Het
Cdh23	T	C	10: 60,155,411 (GRCm39)	E2253G	probably damaging	Het
Cep350	T	C	1: 155,829,193 (GRCm39)	N237S	probably benign	Het
Crispld2	T	C	8: 120,752,810 (GRCm39)	V286A	possibly damaging	Het
Cyp2c65	G	T	19: 39,076,100 (GRCm39)	V351L	possibly damaging	Het
D130043K22Rik	T	C	13: 25,056,389 (GRCm39)	F574L	probably benign	Het
Dag1	G	A	9: 108,086,031 (GRCm39)	T370M	possibly damaging	Het
Dmwd	C	T	7: 18,814,267 (GRCm39)	R306C	probably damaging	Het
Dnah11	T	C	12: 117,951,188 (GRCm39)	Y3040C	probably damaging	Het
Dst	C	A	1: 34,309,935 (GRCm39)	H1536Q	probably damaging	Het
Eif3j1	A	G	2: 121,882,246 (GRCm39)	I202V	probably benign	Het
Epg5	T	A	18: 78,070,574 (GRCm39)	V2283D	probably benign	Het
Evi5	T	C	5: 107,938,328 (GRCm39)	N625S	probably benign	Het
Exosc10	T	C	4: 148,649,814 (GRCm39)	S415P	probably benign	Het
F830016B08Rik	G	T	18: 60,433,036 (GRCm39)	D40Y	possibly damaging	Het
Fam118a	A	G	15: 84,929,951 (GRCm39)	I60V	probably benign	Het
Fam186a	A	T	15: 99,852,768 (GRCm39)	M150K	unknown	Het
Fam193a	C	T	5: 34,622,957 (GRCm39)	R1182W	probably damaging	Het
Hip1r	T	A	5: 124,135,003 (GRCm39)	Y380N	possibly damaging	Het
Hivep2	C	A	10: 14,015,218 (GRCm39)	P1795Q	probably damaging	Het
Hnrnpab	T	C	11: 51,493,494 (GRCm39)	E238G	probably damaging	Het
Kcnma1	C	T	14: 23,853,234 (GRCm39)	A172T	probably damaging	Het
Lipg	G	T	18: 75,081,245 (GRCm39)	H279N	possibly damaging	Het
Lrrc9	A	G	12: 72,510,260 (GRCm39)	D453G	possibly damaging	Het
Map1s	T	A	8: 71,367,612 (GRCm39)	M839K	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Myo1h	T	A	5: 114,467,225 (GRCm39)		probably null	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nrn1	T	C	13: 36,914,544 (GRCm39)	R19G	probably benign	Het
Nwd2	T	C	5: 63,963,712 (GRCm39)	Y1099H	probably benign	Het
Nxpe2	G	A	9: 48,231,209 (GRCm39)	R387C	possibly damaging	Het
Or2a25	T	C	6: 42,888,913 (GRCm39)	V152A	probably benign	Het
Pappa2	C	T	1: 158,682,419 (GRCm39)		probably null	Het
Pcdhb13	A	T	18: 37,575,990 (GRCm39)	I123L	probably benign	Het
Plcg2	A	G	8: 118,306,521 (GRCm39)	T292A	probably benign	Het
Pnpla8	T	A	12: 44,358,111 (GRCm39)	V469D	probably damaging	Het
Pop4	T	C	7: 37,962,679 (GRCm39)	Y195C	probably damaging	Het
Rbsn	A	T	6: 92,188,588 (GRCm39)	D42E	probably damaging	Het
Sclt1	A	T	3: 41,672,222 (GRCm39)	I123N	possibly damaging	Het
Slc22a27	C	A	19: 7,843,201 (GRCm39)	G393*	probably null	Het
Smu1	C	T	4: 40,738,439 (GRCm39)	V432I	probably benign	Het
Sohlh1	A	G	2: 25,736,215 (GRCm39)		probably null	Het
Spta1	T	A	1: 174,058,352 (GRCm39)	I1940K	probably damaging	Het
Sufu	G	T	19: 46,385,563 (GRCm39)	V8F	possibly damaging	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Tmem184b	A	G	15: 79,262,740 (GRCm39)	V39A	possibly damaging	Het
Tmem236	A	G	2: 14,223,694 (GRCm39)	D161G	probably benign	Het
Ufl1	T	C	4: 25,280,685 (GRCm39)	K54R	probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	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
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
R4327: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'- GCTGCTTTGTCCTAGAAGACTGTCC -3'
(R):5'- CCTGAATCGTCCTCAGCAAAGTCTG -3'

Sequencing Primer
(F):5'- TCCTAGAAGACTGTCCTTTGATG -3'
(R):5'- TCAGCAAAGTCTGTACCATAAGAGTG -3'

Posted On

2013-04-16