Incidental Mutation 'IGL02290:Faxc'
ID290050
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Faxc
Ensembl Gene ENSMUSG00000028246
Gene Namefailed axon connections homolog
Synonyms6230409E13Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.137) question?
Stock #IGL02290
Quality Score
Status
Chromosome4
Chromosomal Location21931329-21996839 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 21993390 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 345 (S345T)
Ref Sequence ENSEMBL: ENSMUSP00000029908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029908]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029908
AA Change: S345T

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000029908
Gene: ENSMUSG00000028246
AA Change: S345T

DomainStartEndE-ValueType
low complexity region 66 82 N/A INTRINSIC
SCOP:d1k0ma2 93 172 1e-3 SMART
Pfam:GST_C_3 197 328 1.5e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123481
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124440
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik G A 13: 60,853,530 P128S probably damaging Het
Abca9 A G 11: 110,135,351 V961A probably damaging Het
Atp2a1 A G 7: 126,452,649 probably benign Het
Col25a1 T A 3: 130,519,811 probably benign Het
Col27a1 A G 4: 63,225,926 D617G probably damaging Het
Cpz T C 5: 35,511,142 T375A probably benign Het
Ganc C T 2: 120,448,423 T707I possibly damaging Het
Hars2 T C 18: 36,785,626 V55A possibly damaging Het
Lama4 A T 10: 39,017,364 I156F probably benign Het
Mtrf1 G T 14: 79,401,811 E128* probably null Het
Ndc1 T C 4: 107,394,995 probably benign Het
Ntrk1 A C 3: 87,781,771 N537K probably benign Het
Olfr1198 T C 2: 88,746,385 T168A probably benign Het
Olfr23 A G 11: 73,940,869 I208V probably benign Het
Scn11a A G 9: 119,774,442 I1053T probably damaging Het
Slc27a4 T A 2: 29,815,729 L643Q probably damaging Het
Tsnaxip1 C A 8: 105,833,487 P24T probably benign Het
Vmn1r78 A G 7: 12,153,155 E231G probably damaging Het
Vmn2r124 T G 17: 18,073,335 H561Q probably benign Het
Zbtb12 G A 17: 34,895,472 A78T probably damaging Het
Zp3r C T 1: 130,619,365 V25I possibly damaging Het
Other mutations in Faxc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00391:Faxc APN 4 21948725 missense probably damaging 1.00
IGL00418:Faxc APN 4 21958490 missense possibly damaging 0.55
IGL01714:Faxc APN 4 21936688 missense probably damaging 1.00
IGL02193:Faxc APN 4 21993486 missense possibly damaging 0.69
IGL03271:Faxc APN 4 21948757 missense possibly damaging 0.74
R0131:Faxc UTSW 4 21936659 missense probably damaging 1.00
R0409:Faxc UTSW 4 21948751 missense probably benign 0.00
R0615:Faxc UTSW 4 21958608 missense probably benign 0.01
R1973:Faxc UTSW 4 21993405 missense probably benign 0.35
R2027:Faxc UTSW 4 21958439 splice site probably benign
R2181:Faxc UTSW 4 21931591 missense probably benign 0.02
R4243:Faxc UTSW 4 21982491 missense probably benign 0.01
R4845:Faxc UTSW 4 21993358 missense probably damaging 1.00
R5260:Faxc UTSW 4 21948744 missense probably damaging 1.00
R5306:Faxc UTSW 4 21931557 utr 5 prime probably benign
R6187:Faxc UTSW 4 21958445 missense possibly damaging 0.52
R6237:Faxc UTSW 4 21993376 missense possibly damaging 0.95
R6721:Faxc UTSW 4 21982672 intron probably null
R6825:Faxc UTSW 4 21931672 missense probably benign 0.00
Posted On2015-04-16