Incidental Mutation 'IGL01839:Fastkd3'
ID 155039
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: 0.092) question?
Stock # IGL01839
Quality Score
Status
Chromosome 13
Chromosomal Location 68730353-68740457 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 68732971 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 431 (R431G)
Ref Sequence ENSEMBL: ENSMUSP00000152635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045827] [ENSMUST00000051784] [ENSMUST00000220973] [ENSMUST00000221259] [ENSMUST00000223319] [ENSMUST00000223101] [ENSMUST00000222660] [ENSMUST00000223187] [ENSMUST00000222631] [ENSMUST00000223398] [ENSMUST00000222107]
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 probably benign
Transcript: ENSMUST00000051784
AA Change: R431G

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000061737
Gene: ENSMUSG00000021532
AA Change: R431G

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 noncoding transcript
Transcript: ENSMUST00000222068
Predicted Effect unknown
Transcript: ENSMUST00000222685
AA Change: R10G
Predicted Effect probably benign
Transcript: ENSMUST00000223319
AA Change: R431G

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000223101
Predicted Effect probably benign
Transcript: ENSMUST00000222660
Predicted Effect probably benign
Transcript: ENSMUST00000223187
Predicted Effect probably benign
Transcript: ENSMUST00000222631
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223055
Predicted Effect probably benign
Transcript: ENSMUST00000223398
Predicted Effect probably benign
Transcript: ENSMUST00000222107
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6a T A 12: 113,508,242 (GRCm39) L205Q probably benign Het
Cadps G T 14: 12,467,184 (GRCm38) probably benign Het
Cfap69 G A 5: 5,676,027 (GRCm39) Q223* probably null Het
Col11a2 G A 17: 34,283,056 (GRCm39) probably benign Het
Col3a1 T C 1: 45,350,990 (GRCm39) V28A unknown Het
Cyp17a1 A G 19: 46,659,110 (GRCm39) I177T possibly damaging Het
Exoc2 A G 13: 31,090,782 (GRCm39) L274P probably damaging Het
Fat3 T C 9: 15,909,168 (GRCm39) N2278S probably damaging Het
Ift172 G T 5: 31,423,694 (GRCm39) A756E probably damaging Het
Igf2r T C 17: 12,923,909 (GRCm39) Y1087C probably damaging Het
Khdrbs2 T C 1: 32,453,943 (GRCm39) probably benign Het
Kmt5a A G 5: 124,589,417 (GRCm39) K205R probably benign Het
Lrrc45 A T 11: 120,607,975 (GRCm39) probably null Het
Ltbp2 T C 12: 84,840,432 (GRCm39) S1045G possibly damaging Het
Nfib T C 4: 82,228,607 (GRCm39) M505V probably benign Het
Oit3 C T 10: 59,265,318 (GRCm39) V316I probably damaging Het
Or1e1f T A 11: 73,855,437 (GRCm39) M1K probably null Het
Or5b119 T C 19: 13,456,804 (GRCm39) T253A probably benign Het
Pcdhb5 A T 18: 37,454,502 (GRCm39) N294I probably damaging Het
Pld4 A T 12: 112,731,513 (GRCm39) H222L probably damaging Het
Sacs T C 14: 61,421,394 (GRCm39) probably benign Het
Sgms2 T C 3: 131,135,751 (GRCm39) K41R possibly damaging Het
Slc22a4 A T 11: 53,886,903 (GRCm39) S280T probably damaging Het
Slc34a1 T C 13: 23,996,668 (GRCm39) S58P possibly damaging Het
Slc7a15 C T 12: 8,589,365 (GRCm39) G61S probably damaging Het
Trrap A G 5: 144,758,685 (GRCm39) K2190E probably damaging Het
Ttn C A 2: 76,644,702 (GRCm39) Q13017H probably damaging Het
Other mutations in Fastkd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00477:Fastkd3 APN 13 68,732,647 (GRCm39) missense possibly damaging 0.87
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
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 2014-02-04