Incidental Mutation 'IGL01890:Fastkd2'
ID179236
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fastkd2
Ensembl Gene ENSMUSG00000025962
Gene NameFAST kinase domains 2
Synonyms2810421I24Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.438) question?
Stock #IGL01890
Quality Score
Status
Chromosome1
Chromosomal Location63730614-63754655 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 63732161 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 225 (I225M)
Ref Sequence ENSEMBL: ENSMUSP00000027103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027103] [ENSMUST00000114094]
Predicted Effect probably benign
Transcript: ENSMUST00000027103
AA Change: I225M

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000027103
Gene: ENSMUSG00000025962
AA Change: I225M

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
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 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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A T 12: 80,184,868 V265E probably damaging Het
Anks1b A G 10: 90,644,527 I865V probably benign Het
Car5a G A 8: 121,923,610 A182V probably benign Het
Ccdc47 A G 11: 106,205,451 V249A probably damaging Het
Cyb561d2 A G 9: 107,541,523 V34A probably damaging Het
Dmbt1 A G 7: 131,074,419 probably benign Het
Entpd6 G A 2: 150,770,692 D445N possibly damaging Het
Flcn A G 11: 59,795,170 V424A probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gpn3 A G 5: 122,381,265 M176V probably benign Het
Igkv12-38 C T 6: 69,943,405 C43Y probably damaging Het
Oas1h A G 5: 120,862,789 probably null Het
Rexo1 A T 10: 80,543,011 Y1064N possibly damaging Het
Skint1 G A 4: 112,010,681 G2R probably damaging Het
Slc4a9 G A 18: 36,529,707 A172T possibly damaging Het
Synpo2 A G 3: 123,112,497 S727P probably damaging Het
Tmem131 A T 1: 36,823,156 probably benign Het
Trpm3 G T 19: 22,711,719 R4L probably damaging Het
Upf1 A T 8: 70,334,230 V879E possibly damaging Het
Vmn1r194 A T 13: 22,244,606 Y131F probably benign Het
Vmn2r95 T A 17: 18,451,475 N491K probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Fastkd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Fastkd2 APN 1 63737771 splice site probably benign
IGL02698:Fastkd2 APN 1 63747999 missense probably benign 0.01
IGL02992:Fastkd2 APN 1 63737924 splice site probably benign
IGL03208:Fastkd2 APN 1 63739206 missense probably damaging 1.00
R0172:Fastkd2 UTSW 1 63732028 missense possibly damaging 0.78
R0304:Fastkd2 UTSW 1 63752400 missense possibly damaging 0.46
R0385:Fastkd2 UTSW 1 63737811 missense probably benign 0.01
R0486:Fastkd2 UTSW 1 63752340 missense possibly damaging 0.61
R1115:Fastkd2 UTSW 1 63747955 splice site probably benign
R1468:Fastkd2 UTSW 1 63732226 unclassified probably benign
R1579:Fastkd2 UTSW 1 63745887 missense probably null 0.00
R1729:Fastkd2 UTSW 1 63751300 nonsense probably null
R3937:Fastkd2 UTSW 1 63737836 missense possibly damaging 0.48
R4326:Fastkd2 UTSW 1 63752357 missense probably benign 0.07
R4327:Fastkd2 UTSW 1 63752357 missense probably benign 0.07
R4463:Fastkd2 UTSW 1 63735809 intron probably benign
R4473:Fastkd2 UTSW 1 63731674 missense probably damaging 0.97
R4760:Fastkd2 UTSW 1 63745886 missense probably benign 0.00
R5012:Fastkd2 UTSW 1 63749896 intron probably benign
R5176:Fastkd2 UTSW 1 63731439 unclassified probably benign
R5478:Fastkd2 UTSW 1 63739186 missense probably benign 0.13
R5619:Fastkd2 UTSW 1 63739310 missense probably benign 0.25
R6893:Fastkd2 UTSW 1 63731794 missense possibly damaging 0.75
R7038:Fastkd2 UTSW 1 63731873 missense possibly damaging 0.79
R7049:Fastkd2 UTSW 1 63731850 missense probably benign 0.04
Posted On2014-05-07