Incidental Mutation 'IGL03271:Faxc'
ID415279
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 #IGL03271
Quality Score
Status
Chromosome4
Chromosomal Location21931329-21996839 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 21948757 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 156 (K156N)
Ref Sequence ENSEMBL: ENSMUSP00000029908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029908]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029908
AA Change: K156N

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000029908
Gene: ENSMUSG00000028246
AA Change: K156N

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 G T 13: 111,255,874 V248L probably benign Het
Actl6b T A 5: 137,565,984 I256N probably damaging Het
Agl G T 3: 116,779,127 T825K probably benign Het
Arid5b A T 10: 68,097,457 S629T possibly damaging Het
Atp13a2 T C 4: 141,000,397 I495T possibly damaging Het
Bcl6 G T 16: 23,970,006 H537Q probably benign Het
Cdh12 A G 15: 21,586,453 E786G probably benign Het
Cep290 T A 10: 100,537,801 N1307K probably benign Het
Cops3 A T 11: 59,833,063 N89K probably damaging Het
Cyp4a29 T C 4: 115,254,508 V494A probably damaging Het
Dlg1 A G 16: 31,857,892 H675R possibly damaging Het
Dnajc6 T A 4: 101,508,077 probably benign Het
Dock10 C A 1: 80,505,409 K2107N probably damaging Het
Dopey1 T A 9: 86,504,222 L382* probably null Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gapvd1 C A 2: 34,727,207 probably benign Het
Gfm1 T C 3: 67,474,743 Y717H probably damaging Het
Gm4884 A T 7: 41,043,275 T223S probably benign Het
Gstm3 C A 3: 107,966,197 V153F possibly damaging Het
H2-M10.5 G T 17: 36,773,351 L68F possibly damaging Het
Hmcn1 G T 1: 150,598,424 H4756N possibly damaging Het
Ift140 C A 17: 25,087,906 R872S probably damaging Het
Lars2 T A 9: 123,459,484 probably null Het
Ltbp4 A G 7: 27,329,815 V149A unknown Het
Mpp2 A T 11: 102,063,423 probably benign Het
Mybbp1a A G 11: 72,443,918 probably benign Het
Nxpe4 C A 9: 48,393,045 P144Q probably damaging Het
Olfr1341 T A 4: 118,709,785 I126N probably damaging Het
Olfr478 C T 7: 108,031,507 V279M probably damaging Het
Parp4 C A 14: 56,585,625 N67K probably benign Het
Pdk1 G T 2: 71,880,030 probably benign Het
Phip A T 9: 82,884,824 probably benign Het
Pls1 A G 9: 95,776,830 S202P probably benign Het
Pmpcb A G 5: 21,738,876 Y36C probably benign Het
Pole T C 5: 110,318,319 S1296P probably benign Het
Ptpn13 T C 5: 103,462,148 S4P probably damaging Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Sec61a2 A T 2: 5,882,934 L79* probably null Het
Slc2a5 T C 4: 150,135,583 L152P probably damaging Het
Smu1 C T 4: 40,738,408 G442D probably benign Het
Spag16 T A 1: 69,853,352 N97K probably benign Het
Spag6l C T 16: 16,780,728 D300N probably damaging Het
Sult3a1 A G 10: 33,864,001 T19A probably benign Het
Ttll6 A G 11: 96,156,687 H704R probably benign Het
Uba1 T A X: 20,675,717 D569E probably damaging Het
Umodl1 T A 17: 30,986,499 Y689* probably null Het
Unc80 A G 1: 66,695,603 probably benign Het
Utp15 C A 13: 98,253,694 V282F probably damaging Het
Vmn1r184 A G 7: 26,267,609 Y260C probably benign Het
Vmn1r69 A G 7: 10,580,669 V45A probably benign Het
Vmn2r4 C A 3: 64,398,429 R524L probably benign 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
IGL02290:Faxc APN 4 21993390 missense possibly damaging 0.73
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 On2016-08-02