Incidental Mutation 'IGL01067:Fastkd2'
ID 50189
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fastkd2
Ensembl Gene ENSMUSG00000025962
Gene Name FAST kinase domains 2
Synonyms 2810421I24Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01067
Quality Score
Status
Chromosome 1
Chromosomal Location 63730614-63754655 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to G at 63737771 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000027103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027103]
AlphaFold Q922E6
Predicted Effect probably benign
Transcript: ENSMUST00000027103
SMART Domains Protein: ENSMUSP00000027103
Gene: ENSMUSG00000025962

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 noncoding transcript
Transcript: ENSMUST00000128621
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131478
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
A330008L17Rik T C 8: 99,421,954 noncoding transcript Het
Acp4 C T 7: 44,253,452 V331I probably benign Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Alg6 T C 4: 99,741,570 V128A probably benign Het
Ank3 A G 10: 69,850,196 K280E probably damaging Het
Bfar T C 16: 13,685,241 C36R probably damaging Het
Car14 A G 3: 95,898,816 I311T probably damaging Het
Cd300c T C 11: 114,960,427 probably benign Het
Cfap100 T A 6: 90,406,114 E513V probably damaging Het
Clip1 C A 5: 123,630,804 K612N probably damaging Het
Depdc5 A G 5: 32,899,067 probably null Het
Dock3 A T 9: 107,082,373 probably null Het
Dph6 A T 2: 114,647,809 M17K probably damaging Het
Enkur T C 2: 21,189,231 Q177R probably benign Het
Faap100 T C 11: 120,372,132 H800R probably damaging Het
Fcgr2b A T 1: 170,968,053 N102K possibly damaging Het
Fezf1 C T 6: 23,247,843 V78I possibly damaging Het
Fmn2 A T 1: 174,503,319 D425V unknown Het
Fnta G A 8: 26,007,201 Q207* probably null Het
Fpr3 T A 17: 17,970,566 V33D probably benign Het
Fshr C T 17: 88,985,393 C619Y possibly damaging Het
Gbp3 T C 3: 142,566,597 probably null Het
Gjb2 A G 14: 57,100,172 V193A possibly damaging Het
Il4ra A G 7: 125,575,161 T292A probably benign Het
Lama5 A G 2: 180,176,543 probably benign Het
Marveld3 G T 8: 109,961,964 D48E possibly damaging Het
Meox1 A T 11: 101,893,773 I78N probably benign Het
Ncor1 A T 11: 62,392,528 H444Q probably damaging Het
Ndst3 T C 3: 123,546,817 Q784R probably damaging Het
Olfr1123 A G 2: 87,418,370 I107M probably benign Het
Olfr1294 T A 2: 111,538,014 I92F probably damaging Het
Pld5 A T 1: 176,274,879 probably benign Het
Plk1 G A 7: 122,168,925 R456H probably damaging Het
Polr2a T A 11: 69,748,014 I65F possibly damaging Het
Ptprd T A 4: 76,059,685 I196F probably damaging Het
Qsox2 T C 2: 26,228,396 N121S probably damaging Het
Reln A G 5: 21,979,666 L1617S probably damaging Het
Rragc T C 4: 123,929,968 F345L probably benign Het
Sass6 A T 3: 116,613,956 E240D possibly damaging Het
Shcbp1l A C 1: 153,436,024 S308R possibly damaging Het
Slc1a5 T A 7: 16,786,879 C224* probably null Het
Slc27a5 T C 7: 12,989,072 E567G probably damaging Het
Synj2 T A 17: 6,037,926 N1417K possibly damaging Het
Tbc1d9 A G 8: 83,234,162 T214A probably damaging Het
Tjp3 C A 10: 81,273,865 V835L probably benign Het
Trpc4 C A 3: 54,222,562 Q250K probably benign Het
Ttn A T 2: 76,745,162 I25129N probably damaging Het
Ube4a T A 9: 44,944,865 Y523F probably damaging Het
Zfp971 G A 2: 178,023,382 probably null Het
Other mutations in Fastkd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01890:Fastkd2 APN 1 63732161 missense probably benign 0.06
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
R7510:Fastkd2 UTSW 1 63737789 missense possibly damaging 0.83
R7810:Fastkd2 UTSW 1 63731692 missense possibly damaging 0.61
R7889:Fastkd2 UTSW 1 63735460 splice site probably null
R8263:Fastkd2 UTSW 1 63731809 missense probably benign 0.03
R8271:Fastkd2 UTSW 1 63748024 missense probably benign 0.26
R8321:Fastkd2 UTSW 1 63747979 missense probably benign 0.00
R8468:Fastkd2 UTSW 1 63731764 missense probably benign 0.06
R8767:Fastkd2 UTSW 1 63735921 missense probably benign 0.00
Z1177:Fastkd2 UTSW 1 63734836 critical splice donor site probably null
Z1177:Fastkd2 UTSW 1 63734837 critical splice donor site probably null
Posted On 2013-06-21