Mutagenetix > Incidental Mutation

Incidental Mutation 'R0681:Fastkd3'

208422

Institutional Source

Beutler Lab

Gene Symbol

Fastkd3

Ensembl Gene

ENSMUSG00000021532

Gene Name

FAST kinase domains 3

Synonyms

2310010B21Rik

MMRRC Submission

038866-MU

Accession Numbers

Essential gene?

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

Stock #

R0681 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

68730353-68740457 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 68740047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152635 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051784] [ENSMUST00000223319]

AlphaFold

Q8BSN9

Predicted Effect

probably benign
Transcript: ENSMUST00000051784

SMART Domains

Protein: ENSMUSP00000061737
Gene: ENSMUSG00000021532

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

noncoding transcript
Transcript: ENSMUST00000221006

Predicted Effect

silent
Transcript: ENSMUST00000221640

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222068

Predicted Effect

probably benign
Transcript: ENSMUST00000222685

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223128

Predicted Effect

probably benign
Transcript: ENSMUST00000223319

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.3%

Validation Efficiency

100% (68/68)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	G	T	8: 84,661,279 (GRCm39)		probably benign	Het
Adgrv1	C	A	13: 81,676,649 (GRCm39)	D1341Y	probably damaging	Het
Ahdc1	T	C	4: 132,792,827 (GRCm39)	F1356S	possibly damaging	Het
Cdk13	A	G	13: 17,895,882 (GRCm39)		probably benign	Het
Cfhr1	A	T	1: 139,485,249 (GRCm39)	S66T	probably damaging	Het
Cldn6	C	A	17: 23,900,167 (GRCm39)	Q44K	probably damaging	Het
Cntnap5c	T	C	17: 58,612,550 (GRCm39)	V863A	possibly damaging	Het
Col6a4	T	A	9: 105,944,343 (GRCm39)	K1044*	probably null	Het
Cyb561d1	A	G	3: 108,106,583 (GRCm39)	V212A	probably benign	Het
Cyp1b1	A	G	17: 80,021,275 (GRCm39)	S156P	probably damaging	Het
Dock7	G	A	4: 98,904,941 (GRCm39)	H645Y	probably damaging	Het
Dpp3	T	C	19: 4,964,682 (GRCm39)	N542D	probably damaging	Het
Galnt10	T	A	11: 57,660,366 (GRCm39)	V268D	probably damaging	Het
Grb14	G	T	2: 64,747,631 (GRCm39)	A10E	probably damaging	Het
Grin2c	A	G	11: 115,140,479 (GRCm39)	V1213A	probably benign	Het
Grip1	C	T	10: 119,846,135 (GRCm39)	T570I	probably damaging	Het
Hif1an	T	C	19: 44,551,762 (GRCm39)	Y71H	probably benign	Het
Hsd17b11	T	A	5: 104,151,072 (GRCm39)	I221L	probably benign	Het
Htra1	A	T	7: 130,581,027 (GRCm39)		probably benign	Het
Igfn1	T	C	1: 135,891,591 (GRCm39)	E2308G	possibly damaging	Het
Mapk9	T	A	11: 49,760,072 (GRCm39)	S129T	probably damaging	Het
Med22	T	C	2: 26,800,391 (GRCm39)	T13A	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mtus1	A	T	8: 41,446,554 (GRCm39)	L489Q	probably damaging	Het
Naprt	G	A	15: 75,765,481 (GRCm39)	P120S	probably damaging	Het
Nwd1	C	T	8: 73,388,965 (GRCm39)	P172L	probably damaging	Het
Ogfod2	A	G	5: 124,250,907 (GRCm39)	E62G	probably null	Het
Or13a1	A	T	6: 116,471,361 (GRCm39)	S264C	probably damaging	Het
Or5b12b	A	G	19: 12,861,910 (GRCm39)	T222A	probably damaging	Het
Or5b12b	T	C	19: 12,861,443 (GRCm39)	L66P	probably damaging	Het
Palm	A	C	10: 79,655,327 (GRCm39)	T362P	probably benign	Het
Pcare	T	G	17: 72,056,509 (GRCm39)	H1056P	probably benign	Het
Pcdh8	T	C	14: 80,007,400 (GRCm39)	T388A	probably benign	Het
Pclo	A	G	5: 14,725,332 (GRCm39)	I1397V	unknown	Het
Per1	A	G	11: 68,992,027 (GRCm39)	E127G	probably damaging	Het
Plekha1	T	C	7: 130,502,353 (GRCm39)	V30A	possibly damaging	Het
Pramel24	A	T	4: 143,454,622 (GRCm39)	T307S	probably benign	Het
Rab26	A	G	17: 24,746,940 (GRCm39)		probably benign	Het
Rasal2	T	C	1: 156,984,750 (GRCm39)	D999G	possibly damaging	Het
Rfx5	C	T	3: 94,863,666 (GRCm39)	T105I	probably damaging	Het
Rrp1b	T	C	17: 32,279,369 (GRCm39)	S677P	probably damaging	Het
Scaf4	G	A	16: 90,046,582 (GRCm39)	P485S	unknown	Het
Scn5a	A	T	9: 119,368,706 (GRCm39)	M273K	probably damaging	Het
Sec22a	C	T	16: 35,181,926 (GRCm39)		probably null	Het
Slc10a6	C	A	5: 103,760,315 (GRCm39)	V227F	possibly damaging	Het
Slc39a3	C	G	10: 80,869,565 (GRCm39)	E31Q	probably benign	Het
Spsb1	C	T	4: 149,991,374 (GRCm39)	V65I	probably benign	Het
Tdrd7	T	A	4: 46,016,879 (GRCm39)	M673K	probably benign	Het
Trim8	C	A	19: 46,503,532 (GRCm39)	S361R	possibly damaging	Het
Ucp1	T	A	8: 84,021,936 (GRCm39)	M256K	possibly damaging	Het
Vmn1r46	A	T	6: 89,953,946 (GRCm39)	D265V	probably damaging	Het
Zbtb5	T	C	4: 44,993,787 (GRCm39)	I532M	probably damaging	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
IGL02268:Fastkd3	APN	13	68,731,796 (GRCm39)	missense	probably damaging	0.96
IGL03412:Fastkd3	APN	13	68,731,840 (GRCm39)	missense	probably benign	0.01
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

Predicted Primers

PCR Primer
(F):5'- AGCTCAGGCTCACTTCTCAGACTC -3'
(R):5'- CGCAGACCCTTTTCAGATCCCAAG -3'

Sequencing Primer
(F):5'- CTCGGTACTAAACTCTGTGGGAAC -3'
(R):5'- TCCATAGAGTGGCTAATTCACAG -3'

Posted On

2014-06-25