Incidental Mutation 'IGL01060:Fam120c'
ID 53313
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam120c
Ensembl Gene ENSMUSG00000025262
Gene Name family with sequence similarity 120, member C
Synonyms orf34, D930001I21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.177) question?
Stock # IGL01060
Quality Score
Chromosome X
Chromosomal Location 151344175-151471842 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 151469587 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 1045 (P1045S)
Ref Sequence ENSEMBL: ENSMUSP00000073082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073364]
AlphaFold Q8C3F2
Predicted Effect probably benign
Transcript: ENSMUST00000073364
AA Change: P1045S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000073082
Gene: ENSMUSG00000025262
AA Change: P1045S

low complexity region 32 53 N/A INTRINSIC
low complexity region 60 71 N/A INTRINSIC
low complexity region 77 112 N/A INTRINSIC
low complexity region 418 430 N/A INTRINSIC
low complexity region 510 526 N/A INTRINSIC
low complexity region 965 976 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125924
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a potential transmembrane protein and lies in a region where mutations and deletions have been associated with intellectual disability and autism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Male chimeras hemizygous for a gene trapped allele appear phenotypically normal at E9.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Anks4b A G 7: 120,173,925 T3A possibly damaging Het
Arhgef26 T A 3: 62,340,121 S209T probably benign Het
Ccdc78 A G 17: 25,788,832 D281G probably damaging Het
Ccnb3 A T X: 6,980,274 N1362K probably benign Het
Dnah2 T C 11: 69,478,092 N1662S possibly damaging Het
Ern2 T A 7: 122,170,092 R904W probably damaging Het
Gm12887 C T 4: 121,616,413 probably benign Het
Gpld1 G A 13: 24,982,566 G627S probably damaging Het
Ikbkap C T 4: 56,784,537 probably null Het
Krt77 T A 15: 101,860,880 probably benign Het
Ltf A T 9: 111,022,882 probably null Het
Map3k6 G T 4: 133,247,302 probably null Het
Nsd1 G A 13: 55,263,429 G1431D probably damaging Het
Plekhm2 C T 4: 141,642,645 probably null Het
Popdc2 T A 16: 38,373,965 N249K probably damaging Het
Ppm1h A G 10: 122,907,571 D400G possibly damaging Het
Rps6ka1 A T 4: 133,860,870 S320T probably damaging Het
Rsph6a C T 7: 19,054,868 R42* probably null Het
Sap130 T C 18: 31,715,443 L967P probably damaging Het
Smyd2 T C 1: 189,897,470 E121G possibly damaging Het
Sspo G A 6: 48,449,479 W144* probably null Het
Taar6 A G 10: 23,985,072 V192A probably benign Het
Tbc1d24 A T 17: 24,185,828 V114E probably damaging Het
Trim16 T C 11: 62,820,704 I67T probably benign Het
Ttll7 A G 3: 146,909,582 D267G possibly damaging Het
Ttn T C 2: 76,889,729 probably benign Het
Vmn2r56 T A 7: 12,713,089 I379F probably damaging Het
Zfp14 T C 7: 30,038,085 T492A probably damaging Het
Other mutations in Fam120c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01153:Fam120c APN X 151399805 critical splice donor site probably null
R0096:Fam120c UTSW X 151344345 small deletion probably benign
R4579:Fam120c UTSW X 151436183 missense probably damaging 1.00
R9211:Fam120c UTSW X 151344499 missense probably benign 0.02
Posted On 2013-06-21