Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02268:Fastkd3'

287003

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fastkd3

Ensembl Gene

ENSMUSG00000021532

Gene Name

FAST kinase domains 3

Synonyms

2310010B21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

IGL02268

Quality Score

Status

Chromosome

Chromosomal Location

68730353-68740457 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68731796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 39 (D39G)

Ref Sequence

ENSEMBL: ENSMUSP00000152573 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045827] [ENSMUST00000051784] [ENSMUST00000220973] [ENSMUST00000221259] [ENSMUST00000222660] [ENSMUST00000223187] [ENSMUST00000222631] [ENSMUST00000223319] [ENSMUST00000222107] [ENSMUST00000223398] [ENSMUST00000223101]

AlphaFold

Q8BSN9

Predicted Effect

probably benign
Transcript: ENSMUST00000045827

SMART Domains

Protein: ENSMUSP00000039810
Gene: ENSMUSG00000034617

Domain	Start	End	E-Value	Type
Pfam:Flavodoxin_5	5	126	2.7e-9	PFAM
Pfam:Flavodoxin_1	6	142	4.3e-32	PFAM
Pfam:FAD_binding_1	267	490	2.6e-51	PFAM
Pfam:NAD_binding_1	540	660	5.4e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000051784
AA Change: D39G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000061737
Gene: ENSMUSG00000021532
AA Change: D39G

Domain	Start	End	E-Value	Type
low complexity region	178	189	N/A	INTRINSIC
Pfam:FAST_1	410	478	2.9e-22	PFAM
Pfam:FAST_2	491	581	3.1e-28	PFAM
RAP	594	651	7.58e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000220973

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221006

Predicted Effect

probably benign
Transcript: ENSMUST00000221259

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221800

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222068

Predicted Effect

probably benign
Transcript: ENSMUST00000222660
AA Change: D39G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223187
AA Change: D39G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222631
AA Change: D39G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000223319
AA Change: D39G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000222107

Predicted Effect

probably benign
Transcript: ENSMUST00000223398

Predicted Effect

probably benign
Transcript: ENSMUST00000223101

Predicted Effect

probably benign
Transcript: ENSMUST00000222685

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223055

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a small family of Fas-activated serine/threonine kinase domain (FASTKD) containing proteins that share an amino terminal mitochondrial targeting domain and multiple carboxy terminal FAST domains as well as a putative RNA-binding RAP domain. The members of this family are ubiquitously expressed and are generally most abundant in mitochondria-enriched tissues such as heart, skeletal muscle and brown-adipose tissue. Some members of this protein family may play a role in apoptosis. The protein encoded by this gene interacts with components of the mitochondrial respiratory and translation networks. A pseudogene of this gene is also present on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	C	T	10: 28,862,242 (GRCm39)	C16Y	probably benign	Het
Abca13	C	T	11: 9,240,626 (GRCm39)	L830F	probably benign	Het
Apcdd1	T	C	18: 63,083,259 (GRCm39)	V363A	probably damaging	Het
Atosb	T	A	4: 43,036,468 (GRCm39)	R88*	probably null	Het
Cachd1	A	G	4: 100,809,294 (GRCm39)	I260V	possibly damaging	Het
Cass4	T	A	2: 172,268,962 (GRCm39)	M350K	possibly damaging	Het
Ccnjl	A	G	11: 43,470,615 (GRCm39)	T128A	probably benign	Het
Cd6	C	T	19: 10,773,752 (GRCm39)	G361D	probably benign	Het
Cdh22	T	C	2: 164,965,639 (GRCm39)		probably benign	Het
Ces2h	T	A	8: 105,746,572 (GRCm39)	F475Y	probably benign	Het
Col15a1	A	T	4: 47,245,380 (GRCm39)	T44S	probably damaging	Het
Cplx3	C	T	9: 57,509,741 (GRCm39)	E86K	possibly damaging	Het
Crbn	A	G	6: 106,772,004 (GRCm39)	V100A	possibly damaging	Het
D430041D05Rik	C	A	2: 104,071,500 (GRCm39)	V1267L	possibly damaging	Het
Ecrg4	T	A	1: 43,770,111 (GRCm39)	C23S	probably damaging	Het
Elapor1	C	A	3: 108,375,113 (GRCm39)	A585S	probably benign	Het
F930017D23Rik	A	G	10: 43,480,405 (GRCm39)		noncoding transcript	Het
Golgb1	T	A	16: 36,733,490 (GRCm39)	S912R	probably benign	Het
H2-T24	T	C	17: 36,328,264 (GRCm39)	Y73C	probably damaging	Het
Ifna9	A	T	4: 88,510,591 (GRCm39)	L11*	probably null	Het
Igsf10	A	T	3: 59,238,573 (GRCm39)	L536*	probably null	Het
Itprid1	A	T	6: 55,861,673 (GRCm39)		probably benign	Het
Kcnma1	A	T	14: 23,593,144 (GRCm39)	I215K	probably damaging	Het
Kdm4c	A	C	4: 74,291,953 (GRCm39)	I857L	possibly damaging	Het
Kptn	A	T	7: 15,857,786 (GRCm39)	H229L	probably benign	Het
Krt32	A	T	11: 99,978,967 (GRCm39)	M29K	probably benign	Het
Lama2	A	G	10: 26,877,112 (GRCm39)		probably benign	Het
Lpcat2b	A	C	5: 107,581,982 (GRCm39)	D437A	probably damaging	Het
Lrrc8c	T	C	5: 105,755,764 (GRCm39)	L513P	probably damaging	Het
Mon1a	T	C	9: 107,778,997 (GRCm39)	V407A	possibly damaging	Het
Myo5c	C	T	9: 75,153,519 (GRCm39)	P135L	probably damaging	Het
Myof	C	T	19: 37,942,877 (GRCm39)	V218M	possibly damaging	Het
Myof	T	A	19: 37,963,311 (GRCm39)	I429F	possibly damaging	Het
Nbas	A	G	12: 13,455,398 (GRCm39)	D1204G	possibly damaging	Het
Nckap1	G	A	2: 80,358,962 (GRCm39)	P560S	probably benign	Het
Notch2	G	A	3: 98,044,713 (GRCm39)	G1545D	probably damaging	Het
Ntrk1	G	A	3: 87,688,838 (GRCm39)	H572Y	probably damaging	Het
Or2t44	T	C	11: 58,677,551 (GRCm39)	F164L	probably benign	Het
Or7e177	T	C	9: 20,211,588 (GRCm39)	S31P	probably damaging	Het
Pate8	T	C	9: 36,493,166 (GRCm39)	Y52C	possibly damaging	Het
Pcdh15	A	T	10: 74,178,504 (GRCm39)	D587V	probably damaging	Het
Pik3cb	T	C	9: 98,928,609 (GRCm39)	Y882C	probably benign	Het
Plch1	T	A	3: 63,606,704 (GRCm39)	*1074C	probably null	Het
Plcxd1	T	C	5: 110,248,140 (GRCm39)		probably benign	Het
Ppp2r2d	A	G	7: 138,474,700 (GRCm39)	N27S	probably null	Het
Prkar2a	A	G	9: 108,624,152 (GRCm39)	M390V	probably benign	Het
Rab3gap1	A	G	1: 127,796,695 (GRCm39)	T18A	probably damaging	Het
Ranbp2	T	C	10: 58,329,475 (GRCm39)		probably benign	Het
Rasl12	T	C	9: 65,305,946 (GRCm39)	S34P	probably damaging	Het
Rpusd3	A	T	6: 113,395,818 (GRCm39)	L65Q	possibly damaging	Het
Rtf2	A	G	2: 172,310,639 (GRCm39)	K290R	probably damaging	Het
Rwdd4a	T	A	8: 48,003,731 (GRCm39)	L179*	probably null	Het
Scgb1b24	A	G	7: 33,444,388 (GRCm39)	E87G	possibly damaging	Het
Sgo2a	A	G	1: 58,056,881 (GRCm39)	I1022V	probably benign	Het
Smg1	A	C	7: 117,781,764 (GRCm39)	I1174M	probably benign	Het
Spata17	A	T	1: 186,872,595 (GRCm39)	M72K	probably damaging	Het
Synpo2	G	A	3: 122,910,632 (GRCm39)	P338S	probably damaging	Het
Tpi1	G	A	6: 124,791,087 (GRCm39)	T50I	probably benign	Het
Trpm1	A	G	7: 63,867,362 (GRCm39)	E354G	probably damaging	Het
Uba2	A	G	7: 33,842,161 (GRCm39)		probably null	Het
Wnk1	G	A	6: 119,914,334 (GRCm39)	R1823*	probably null	Het
Zfp248	A	C	6: 118,430,801 (GRCm39)		probably benign	Het
Zfp51	A	T	17: 21,683,681 (GRCm39)	K99*	probably null	Het

Other mutations in Fastkd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00477:Fastkd3	APN	13	68,732,647 (GRCm39)	missense	possibly damaging	0.87
IGL01839:Fastkd3	APN	13	68,732,971 (GRCm39)	missense	probably benign	0.19
IGL03412:Fastkd3	APN	13	68,731,840 (GRCm39)	missense	probably benign	0.01
R0681:Fastkd3	UTSW	13	68,740,047 (GRCm39)	splice site	probably benign
R1282:Fastkd3	UTSW	13	68,732,676 (GRCm39)	missense	possibly damaging	0.76
R1987:Fastkd3	UTSW	13	68,733,360 (GRCm39)	missense	possibly damaging	0.92
R3081:Fastkd3	UTSW	13	68,732,987 (GRCm39)	missense	probably benign	0.38
R4153:Fastkd3	UTSW	13	68,738,257 (GRCm39)	missense	probably damaging	1.00
R5339:Fastkd3	UTSW	13	68,738,283 (GRCm39)	missense	probably damaging	1.00
R5384:Fastkd3	UTSW	13	68,732,704 (GRCm39)	missense	probably benign	0.09
R6034:Fastkd3	UTSW	13	68,731,729 (GRCm39)	missense	probably damaging	0.99
R6034:Fastkd3	UTSW	13	68,731,729 (GRCm39)	missense	probably damaging	0.99
R6109:Fastkd3	UTSW	13	68,738,337 (GRCm39)	nonsense	probably null
R6123:Fastkd3	UTSW	13	68,738,337 (GRCm39)	nonsense	probably null
R6124:Fastkd3	UTSW	13	68,738,337 (GRCm39)	nonsense	probably null
R6299:Fastkd3	UTSW	13	68,735,855 (GRCm39)	missense	probably damaging	0.97
R6388:Fastkd3	UTSW	13	68,738,319 (GRCm39)	missense	probably damaging	1.00
R6561:Fastkd3	UTSW	13	68,732,149 (GRCm39)	missense	possibly damaging	0.95
R7214:Fastkd3	UTSW	13	68,737,499 (GRCm39)	missense	probably benign	0.12
R7446:Fastkd3	UTSW	13	68,740,079 (GRCm39)	missense	unknown
R8897:Fastkd3	UTSW	13	68,732,303 (GRCm39)	missense	probably damaging	1.00
R8930:Fastkd3	UTSW	13	68,731,835 (GRCm39)	missense	probably benign	0.09
R8932:Fastkd3	UTSW	13	68,731,835 (GRCm39)	missense	probably benign	0.09
R9051:Fastkd3	UTSW	13	68,733,071 (GRCm39)	missense	probably damaging	1.00
R9596:Fastkd3	UTSW	13	68,735,806 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16