Incidental Mutation 'IGL00391:Faxc'
ID6703
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: 0.103) question?
Stock #IGL00391
Quality Score
Status
Chromosome4
Chromosomal Location21931329-21996839 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 21948725 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 146 (K146E)
Ref Sequence ENSEMBL: ENSMUSP00000029908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029908]
Predicted Effect probably damaging
Transcript: ENSMUST00000029908
AA Change: K146E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029908
Gene: ENSMUSG00000028246
AA Change: K146E

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: ENSMUST00000123319
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 G A 5: 81,724,224 V990M probably damaging Het
Ap4b1 A G 3: 103,821,542 T499A probably benign Het
Cacna2d4 T C 6: 119,337,933 probably benign Het
Ccr5 T A 9: 124,124,406 D15E possibly damaging Het
Clca4b A G 3: 144,915,561 V584A possibly damaging Het
Cmtr1 T C 17: 29,674,262 M85T probably damaging Het
Col6a3 T A 1: 90,828,255 H104L probably damaging Het
Coq9 A T 8: 94,850,517 K170M probably damaging Het
Elmod1 A G 9: 53,924,398 probably null Het
Fam47e A C 5: 92,579,663 E143D probably damaging Het
Gm5346 A T 8: 43,625,629 F519L probably damaging Het
Hrasls5 A T 19: 7,619,266 probably benign Het
Myo7b A C 18: 32,021,556 probably benign Het
Nmur1 G A 1: 86,386,471 R381C probably damaging Het
Nsd2 T G 5: 33,855,733 D469E probably damaging Het
Osbpl6 G A 2: 76,590,439 C786Y probably damaging Het
Osgin2 T C 4: 16,006,439 Y85C probably damaging Het
Otof A G 5: 30,375,623 C1587R probably damaging Het
Plekha2 A G 8: 25,057,327 V247A probably damaging Het
Plppr5 A T 3: 117,671,943 N281I possibly damaging Het
Popdc3 A G 10: 45,317,826 probably null Het
Ppp1r12a A G 10: 108,198,848 N85D probably damaging Het
Serpinb8 A G 1: 107,606,984 S262G probably benign Het
Sspo G A 6: 48,497,386 G4780R probably damaging Het
Ush2a A G 1: 188,916,061 E4621G probably damaging Het
Other mutations in Faxc
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02290:Faxc APN 4 21993390 missense possibly damaging 0.73
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
R7841:Faxc UTSW 4 21958584 missense probably benign 0.12
R7924:Faxc UTSW 4 21958584 missense probably benign 0.12
Posted On2012-04-20