Incidental Mutation 'R6561:Fastkd3'
ID 523143
Institutional Source Beutler Lab
Gene Symbol Fastkd3
Ensembl Gene ENSMUSG00000021532
Gene Name FAST kinase domains 3
Synonyms 2310010B21Rik
MMRRC Submission 044685-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R6561 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 68730353-68740457 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 68732149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 157 (R157C)
Ref Sequence ENSEMBL: ENSMUSP00000152635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045827] [ENSMUST00000051784] [ENSMUST00000220973] [ENSMUST00000221259] [ENSMUST00000223319] [ENSMUST00000222631] [ENSMUST00000223101] [ENSMUST00000223187] [ENSMUST00000222107] [ENSMUST00000222660] [ENSMUST00000223398]
AlphaFold Q8BSN9
Predicted Effect probably benign
Transcript: ENSMUST00000045827
SMART Domains Protein: ENSMUSP00000039810
Gene: ENSMUSG00000034617

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000051784
AA Change: R157C

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000061737
Gene: ENSMUSG00000021532
AA Change: R157C

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000223319
AA Change: R157C

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000222631
Predicted Effect probably benign
Transcript: ENSMUST00000222685
Predicted Effect probably benign
Transcript: ENSMUST00000223101
Predicted Effect probably benign
Transcript: ENSMUST00000223187
Predicted Effect probably benign
Transcript: ENSMUST00000222107
Predicted Effect probably benign
Transcript: ENSMUST00000222660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223055
Predicted Effect probably benign
Transcript: ENSMUST00000223398
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222068
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.9%
Validation Efficiency 97% (30/31)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,977,825 (GRCm39) I468F probably benign Het
Ahsa2 T A 11: 23,441,036 (GRCm39) I202F possibly damaging Het
Akr1b1 C T 6: 34,286,939 (GRCm39) V206M possibly damaging Het
Anapc1 A G 2: 128,505,919 (GRCm39) V639A probably damaging Het
Cdh12 A G 15: 21,492,680 (GRCm39) Y233C probably damaging Het
Dchs2 G T 3: 83,036,476 (GRCm39) V408F probably benign Het
Dnmt3c T A 2: 153,561,950 (GRCm39) L551Q probably damaging Het
Dock2 A G 11: 34,578,365 (GRCm39) F746S probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ier3ip1 T A 18: 77,027,344 (GRCm39) S58T probably damaging Het
Itpr2 A G 6: 146,135,504 (GRCm39) V1809A probably damaging Het
Kif22 T A 7: 126,630,225 (GRCm39) N437I probably benign Het
Klri1 A G 6: 129,693,964 (GRCm39) V41A probably benign Het
Lrrc14 T A 15: 76,597,646 (GRCm39) D125E possibly damaging Het
Nek10 A T 14: 14,828,448 (GRCm38) N90I possibly damaging Het
Nostrin G A 2: 69,011,201 (GRCm39) A331T probably benign Het
Or4k2 T C 14: 50,423,775 (GRCm39) K300E probably damaging Het
Or5b109 A G 19: 13,212,394 (GRCm39) Y260C probably damaging Het
Or8b12i T C 9: 20,082,073 (GRCm39) T265A probably benign Het
Plxna1 A G 6: 89,333,960 (GRCm39) V223A probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Homo
Skic3 T A 13: 76,298,638 (GRCm39) S1115T probably damaging Het
Smg1 A T 7: 117,765,300 (GRCm39) probably benign Het
Sorbs1 A G 19: 40,314,496 (GRCm39) I772T probably benign Het
Sptbn2 A G 19: 4,797,954 (GRCm39) N1927S probably benign Het
Tab1 T C 15: 80,033,031 (GRCm39) V105A probably benign Het
Trbv15 A T 6: 41,118,414 (GRCm39) T57S probably benign Het
Vmn1r78 A T 7: 11,886,826 (GRCm39) I146F probably damaging Het
Vmn2r39 T A 7: 9,018,092 (GRCm39) Y748F probably damaging Het
Zfp493 T A 13: 67,934,338 (GRCm39) V65D possibly damaging Het
Other mutations in Fastkd3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GATGCTTTTCAGGAGACTAAGC -3'
(R):5'- ACTCGCACCTTGAAGCATGG -3'

Sequencing Primer
(F):5'- TCAGGAGACTAAGCTACTTCACTTC -3'
(R):5'- TGAAGCATGGCCAGACTTTC -3'
Posted On 2018-06-06