Incidental Mutation 'IGL01534:Fam172a'
ID89911
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam172a
Ensembl Gene ENSMUSG00000064138
Gene Namefamily with sequence similarity 172, member A
SynonymspEN87, 2610318O14Rik, 53-E6, 9430037D06Rik, 1110033M05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.161) question?
Stock #IGL01534
Quality Score
Status
Chromosome13
Chromosomal Location77702033-78166235 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 77999711 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091459] [ENSMUST00000099358] [ENSMUST00000163257] [ENSMUST00000224217]
Predicted Effect probably benign
Transcript: ENSMUST00000091459
SMART Domains Protein: ENSMUSP00000089038
Gene: ENSMUSG00000064138

DomainStartEndE-ValueType
Pfam:Arb2 30 178 7.8e-38 PFAM
SCOP:d1imja_ 224 295 2e-3 SMART
low complexity region 341 354 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099358
SMART Domains Protein: ENSMUSP00000096960
Gene: ENSMUSG00000064138

DomainStartEndE-ValueType
SCOP:d1imja_ 160 231 2e-3 SMART
low complexity region 277 290 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163257
SMART Domains Protein: ENSMUSP00000133140
Gene: ENSMUSG00000064138

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Arb2 78 228 3.5e-44 PFAM
SCOP:d1imja_ 270 341 2e-3 SMART
low complexity region 387 400 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000224217
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T C 9: 122,368,081 L111P possibly damaging Het
Adck5 C A 15: 76,594,726 H383Q probably damaging Het
Asns T A 6: 7,675,397 H535L probably benign Het
Atf5 A G 7: 44,813,038 S221P probably damaging Het
Atr T C 9: 95,865,546 Y294H probably damaging Het
B230307C23Rik A G 16: 98,008,761 probably benign Het
C1qtnf6 C T 15: 78,525,216 E144K probably benign Het
Casp8ap2 C T 4: 32,648,134 probably benign Het
Cd48 C A 1: 171,695,739 P50Q possibly damaging Het
Cnnm4 T C 1: 36,499,515 Y593H probably benign Het
Col27a1 G A 4: 63,225,782 R569Q probably benign Het
Cubn A T 2: 13,465,933 C549* probably null Het
Dsg1a T A 18: 20,340,996 M1042K probably benign Het
Dzip1 T A 14: 118,877,239 T835S probably damaging Het
Eif3c T C 7: 126,557,695 T389A probably benign Het
Erlin2 G T 8: 27,031,957 E177* probably null Het
Gabrb1 T A 5: 71,869,429 S91T possibly damaging Het
Grik3 T C 4: 125,686,190 V576A probably damaging Het
Gtpbp2 T A 17: 46,163,504 Y70N probably damaging Het
Idh3a T A 9: 54,601,222 probably benign Het
Ift74 G A 4: 94,679,944 R406H probably benign Het
Kcna7 C A 7: 45,406,511 N50K probably damaging Het
Kcnd2 T C 6: 21,726,145 S546P probably benign Het
Lrp4 G A 2: 91,473,641 D134N probably damaging Het
Mcm2 A G 6: 88,887,718 probably null Het
Nlrp12 T C 7: 3,239,833 Y683C probably benign Het
Olfr1104 A G 2: 87,021,884 I220T probably damaging Het
Olfr114 A T 17: 37,590,072 Y94N possibly damaging Het
Olfr1499 T A 19: 13,815,302 H96L probably benign Het
Olfr1502 A T 19: 13,861,919 N42I probably damaging Het
Olfr710 T A 7: 106,944,339 I221F probably damaging Het
P2rx7 A C 5: 122,676,698 I409L probably damaging Het
Pde10a A G 17: 8,944,970 N191S probably damaging Het
Rabggtb A G 3: 153,910,259 probably null Het
Rgs4 A T 1: 169,744,516 C71* probably null Het
Rnase10 T C 14: 51,007,979 F5L probably benign Het
Scn11a T A 9: 119,780,822 T987S probably benign Het
Shox2 A C 3: 66,978,363 D126E probably benign Het
Slc12a1 A G 2: 125,217,910 D910G probably damaging Het
Slc15a1 C T 14: 121,464,952 C594Y possibly damaging Het
Spock2 C T 10: 60,127,061 probably benign Het
Togaram1 G T 12: 64,966,547 D191Y probably damaging Het
Triml2 T C 8: 43,187,623 V172A probably benign Het
Tubb3 C T 8: 123,420,966 R213C probably benign Het
Vmn2r4 A T 3: 64,406,423 V379E probably damaging Het
Zfp446 C T 7: 12,979,566 P153L probably damaging Het
Zfp608 A T 18: 54,898,932 N645K probably damaging Het
Other mutations in Fam172a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Fam172a APN 13 77951975 splice site probably benign
IGL01455:Fam172a APN 13 77902647 splice site probably benign
IGL01812:Fam172a APN 13 77761847 nonsense probably null
R0107:Fam172a UTSW 13 77902814 missense probably damaging 0.98
R0329:Fam172a UTSW 13 77761951 intron probably benign
R0455:Fam172a UTSW 13 77834713 splice site probably benign
R1112:Fam172a UTSW 13 77761886 missense probably damaging 1.00
R1434:Fam172a UTSW 13 77761922 missense probably damaging 1.00
R1547:Fam172a UTSW 13 77825390 critical splice donor site probably null
R1667:Fam172a UTSW 13 77759516 start codon destroyed probably null 0.04
R1961:Fam172a UTSW 13 77902720 missense probably benign 0.24
R2018:Fam172a UTSW 13 77999637 missense possibly damaging 0.49
R5878:Fam172a UTSW 13 77952067 missense probably damaging 1.00
R7230:Fam172a UTSW 13 77759472 missense probably damaging 1.00
R7449:Fam172a UTSW 13 77759442 missense probably damaging 1.00
R7867:Fam172a UTSW 13 77902718 missense probably benign
R8080:Fam172a UTSW 13 78006446 missense probably damaging 1.00
RF003:Fam172a UTSW 13 77834675 missense possibly damaging 0.93
Posted On2013-12-03