Incidental Mutation 'IGL01714:Faxc'
ID104892
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: 0.084) question?
Stock #IGL01714
Quality Score
Status
Chromosome4
Chromosomal Location21931329-21996839 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 21936688 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 108 (P108S)
Ref Sequence ENSEMBL: ENSMUSP00000029908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029908]
Predicted Effect probably damaging
Transcript: ENSMUST00000029908
AA Change: P108S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029908
Gene: ENSMUSG00000028246
AA Change: P108S

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik T C 8: 72,455,569 probably null Het
Acvrl1 T A 15: 101,137,370 I259N probably damaging Het
Ahctf1 A G 1: 179,795,877 S59P probably damaging Het
Bcas1 T C 2: 170,384,182 probably benign Het
Ccdc33 T C 9: 58,029,870 N682S possibly damaging Het
Celf1 T C 2: 91,009,207 S326P possibly damaging Het
Cntn1 T A 15: 92,253,989 C436* probably null Het
Cyp2d40 T G 15: 82,761,240 D142A possibly damaging Het
Dnhd1 C T 7: 105,720,942 L4525F probably damaging Het
Drosha A G 15: 12,878,784 Y732C probably damaging Het
Edn1 A G 13: 42,305,014 N101S probably benign Het
Glb1l2 C T 9: 26,768,418 probably null Het
Gm20498 A G 12: 81,510,890 I47T probably damaging Het
Gm4952 G T 19: 12,624,711 R161L probably benign Het
Hipk2 A T 6: 38,819,182 Y51N probably damaging Het
Id4 T G 13: 48,261,790 I98S probably damaging Het
Klf6 T C 13: 5,866,659 S268P probably benign Het
Kmt2c G T 5: 25,313,400 T2427N probably benign Het
Lrp3 T G 7: 35,206,071 probably null Het
Lrrc66 A G 5: 73,629,977 I10T probably benign Het
Mapkap1 T G 2: 34,518,843 V281G probably damaging Het
Ncor1 T A 11: 62,334,584 I1054F possibly damaging Het
Olfr1061 T C 2: 86,413,800 N84S probably benign Het
Ppp1r9b C A 11: 95,005,354 T817N probably damaging Het
Prkd2 T A 7: 16,863,942 I659N probably damaging Het
Radil T C 5: 142,543,397 probably benign Het
Smarcd1 C T 15: 99,712,421 T474I probably damaging Het
Srd5a1 C T 13: 69,611,062 W62* probably null Het
St5 A G 7: 109,570,062 S9P probably damaging Het
St6galnac2 C T 11: 116,685,119 D169N probably damaging Het
Ttn T A 2: 76,857,179 probably benign Het
Vmn1r77 A T 7: 12,041,350 I18F probably benign Het
Xrcc5 A T 1: 72,329,984 K332N probably 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
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
Posted On2014-01-21