Incidental Mutation 'IGL00418:Faxc'
ID 6702
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Faxc
Ensembl Gene ENSMUSG00000028246
Gene Name failed axon connections homolog
Synonyms 6230409E13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # IGL00418
Quality Score
Status
Chromosome 4
Chromosomal Location 21931329-21996839 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21958490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 216 (K216E)
Ref Sequence ENSEMBL: ENSMUSP00000029908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029908]
AlphaFold Q3UMF9
Predicted Effect possibly damaging
Transcript: ENSMUST00000029908
AA Change: K216E

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029908
Gene: ENSMUSG00000028246
AA Change: K216E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155220
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A G 12: 55,095,748 (GRCm39) I238T probably damaging Het
Akap4 T C X: 6,942,729 (GRCm39) V344A possibly damaging Het
Apex2 T C X: 149,355,048 (GRCm39) K430E probably benign Het
Aqp9 C T 9: 71,040,013 (GRCm39) A90T probably damaging Het
Asb15 T A 6: 24,558,642 (GRCm39) probably benign Het
Barhl2 C T 5: 106,603,365 (GRCm39) A265T possibly damaging Het
Bspry G T 4: 62,414,342 (GRCm39) D312Y probably benign Het
Cdh16 G A 8: 105,350,045 (GRCm39) R5W probably benign Het
Ciz1 C T 2: 32,262,400 (GRCm39) R461C probably damaging Het
Cldn14 T A 16: 93,716,189 (GRCm39) D219V probably benign Het
Clpb A T 7: 101,436,952 (GRCm39) T706S probably benign Het
Cyp2d11 A T 15: 82,276,669 (GRCm39) M90K probably benign Het
Cyp2j8 T A 4: 96,332,853 (GRCm39) I498F possibly damaging Het
Dnah2 A G 11: 69,385,892 (GRCm39) probably benign Het
Dpyd T A 3: 118,737,891 (GRCm39) F477L probably damaging Het
Dscaml1 C A 9: 45,581,498 (GRCm39) S439* probably null Het
Fmo1 C T 1: 162,663,815 (GRCm39) R238Q probably damaging Het
Gm14399 G A 2: 174,973,315 (GRCm39) R147* probably null Het
H2-Ab1 G A 17: 34,486,549 (GRCm39) V203M probably damaging Het
Heatr5b T C 17: 79,060,570 (GRCm39) E2035G probably damaging Het
Hip1 A G 5: 135,455,200 (GRCm39) I786T probably damaging Het
Homer1 T C 13: 93,524,196 (GRCm39) probably benign Het
Igkv9-120 A G 6: 68,026,971 (GRCm39) D2G possibly damaging Het
Irgm1 A T 11: 48,756,832 (GRCm39) Y326* probably null Het
Kctd19 A T 8: 106,115,095 (GRCm39) probably null Het
Large1 T C 8: 73,550,469 (GRCm39) probably null Het
Mzf1 G A 7: 12,778,543 (GRCm39) A287V possibly damaging Het
Nes A T 3: 87,883,561 (GRCm39) K607* probably null Het
Pars2 T A 4: 106,511,247 (GRCm39) V307E probably damaging Het
Pcsk5 T A 19: 17,488,785 (GRCm39) I1012F possibly damaging Het
Pole T C 5: 110,451,431 (GRCm39) probably benign Het
Rbm14 T C 19: 4,852,576 (GRCm39) probably benign Het
Scn2a A T 2: 65,594,866 (GRCm39) Q1905L probably benign Het
Slc26a2 A G 18: 61,331,812 (GRCm39) F540L probably benign Het
Slco2a1 T C 9: 102,956,640 (GRCm39) probably benign Het
Tas2r106 T C 6: 131,654,922 (GRCm39) probably null Het
Tmem175 T A 5: 108,793,732 (GRCm39) D287E probably benign Het
Trappc12 T C 12: 28,787,835 (GRCm39) K416R probably damaging Het
Trim2 A G 3: 84,115,596 (GRCm39) L86P probably damaging Het
Vps13c T A 9: 67,783,544 (GRCm39) N240K probably damaging Het
Wdr90 A C 17: 26,068,338 (GRCm39) I1330S probably damaging Het
Wfdc6a A G 2: 164,426,914 (GRCm39) probably null Het
Zc3h12c C T 9: 52,027,965 (GRCm39) V466M probably damaging Het
Zswim8 A G 14: 20,768,543 (GRCm39) T1025A probably damaging Het
Other mutations in Faxc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00391:Faxc APN 4 21,948,725 (GRCm39) missense probably damaging 1.00
IGL01714:Faxc APN 4 21,936,688 (GRCm39) missense probably damaging 1.00
IGL02193:Faxc APN 4 21,993,486 (GRCm39) missense possibly damaging 0.69
IGL02290:Faxc APN 4 21,993,390 (GRCm39) missense possibly damaging 0.73
IGL03271:Faxc APN 4 21,948,757 (GRCm39) missense possibly damaging 0.74
R0131:Faxc UTSW 4 21,936,659 (GRCm39) missense probably damaging 1.00
R0409:Faxc UTSW 4 21,948,751 (GRCm39) missense probably benign 0.00
R0615:Faxc UTSW 4 21,958,608 (GRCm39) missense probably benign 0.01
R1973:Faxc UTSW 4 21,993,405 (GRCm39) missense probably benign 0.35
R2027:Faxc UTSW 4 21,958,439 (GRCm39) splice site probably benign
R2181:Faxc UTSW 4 21,931,591 (GRCm39) missense probably benign 0.02
R4243:Faxc UTSW 4 21,982,491 (GRCm39) missense probably benign 0.01
R4845:Faxc UTSW 4 21,993,358 (GRCm39) missense probably damaging 1.00
R5260:Faxc UTSW 4 21,948,744 (GRCm39) missense probably damaging 1.00
R5306:Faxc UTSW 4 21,931,557 (GRCm39) utr 5 prime probably benign
R6187:Faxc UTSW 4 21,958,445 (GRCm39) missense possibly damaging 0.52
R6237:Faxc UTSW 4 21,993,376 (GRCm39) missense possibly damaging 0.95
R6721:Faxc UTSW 4 21,982,672 (GRCm39) splice site probably null
R6825:Faxc UTSW 4 21,931,672 (GRCm39) missense probably benign 0.00
R7841:Faxc UTSW 4 21,958,584 (GRCm39) missense probably benign 0.12
R8351:Faxc UTSW 4 21,932,046 (GRCm39) splice site probably null
R8491:Faxc UTSW 4 21,993,319 (GRCm39) missense probably damaging 0.97
R8905:Faxc UTSW 4 21,982,398 (GRCm39) missense probably damaging 1.00
R9715:Faxc UTSW 4 21,993,307 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20