Incidental Mutation 'IGL01523:Fam90a1b'
ID 89478
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam90a1b
Ensembl Gene ENSMUSG00000043549
Gene Name family with sequence similarity 90, member A1B
Synonyms 4932442L08Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.031) question?
Stock # IGL01523
Quality Score
Status
Chromosome X
Chromosomal Location 93383509-93410513 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93400365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 155 (D155G)
Ref Sequence ENSEMBL: ENSMUSP00000043958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044989] [ENSMUST00000113902] [ENSMUST00000113903]
AlphaFold Q9D4F3
Predicted Effect probably benign
Transcript: ENSMUST00000044989
AA Change: D155G

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000043958
Gene: ENSMUSG00000043549
AA Change: D155G

DomainStartEndE-ValueType
low complexity region 19 33 N/A INTRINSIC
ZnF_C2HC 35 53 1.69e0 SMART
low complexity region 68 80 N/A INTRINSIC
low complexity region 86 107 N/A INTRINSIC
low complexity region 112 124 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113902
Predicted Effect probably benign
Transcript: ENSMUST00000113903
AA Change: D155G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000109536
Gene: ENSMUSG00000043549
AA Change: D155G

DomainStartEndE-ValueType
low complexity region 19 33 N/A INTRINSIC
ZnF_C2HC 35 53 1.69e0 SMART
low complexity region 68 80 N/A INTRINSIC
low complexity region 86 107 N/A INTRINSIC
low complexity region 112 124 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] FAM90A1 belongs to subfamily I of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]).[supplied by OMIM, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,867,320 (GRCm39) E246G probably damaging Het
B3galt5 T A 16: 96,117,091 (GRCm39) D241E probably damaging Het
Camta1 A G 4: 151,229,507 (GRCm39) F442L possibly damaging Het
Cntnap5b A T 1: 100,359,504 (GRCm39) E709V probably benign Het
Ctnnal1 T C 4: 56,835,243 (GRCm39) I345V probably damaging Het
Evpl T C 11: 116,124,270 (GRCm39) N183S probably damaging Het
Fsip2 G A 2: 82,807,863 (GRCm39) S1394N probably benign Het
Gcnt2 A T 13: 41,041,339 (GRCm39) Q166L probably benign Het
Gpatch1 T C 7: 35,007,763 (GRCm39) D99G probably null Het
Grin2b A T 6: 136,021,263 (GRCm39) W13R probably null Het
Hbb-bh1 C T 7: 103,491,024 (GRCm39) V127M probably benign Het
Hc C T 2: 34,929,250 (GRCm39) M282I probably benign Het
Hirip3 A G 7: 126,461,876 (GRCm39) E57G probably damaging Het
Inpp5j C T 11: 3,445,932 (GRCm39) probably null Het
Krt84 A T 15: 101,437,179 (GRCm39) V328E probably damaging Het
Lrriq1 C A 10: 103,053,977 (GRCm39) E247* probably null Het
Mmrn2 T A 14: 34,125,174 (GRCm39) F918L probably damaging Het
Myh13 A G 11: 67,238,769 (GRCm39) E704G possibly damaging Het
Myo16 T A 8: 10,420,908 (GRCm39) N249K probably damaging Het
Nobox C A 6: 43,281,057 (GRCm39) K472N probably damaging Het
Or1j1 T A 2: 36,702,415 (GRCm39) T230S probably benign Het
Orc4 A T 2: 48,807,236 (GRCm39) S232T probably benign Het
Pign A T 1: 105,580,903 (GRCm39) Y159N probably damaging Het
Rere T A 4: 150,700,012 (GRCm39) V1032E possibly damaging Het
Ror2 T C 13: 53,272,999 (GRCm39) Q210R probably benign Het
Sh3tc2 G A 18: 62,123,954 (GRCm39) R905Q probably benign Het
Ttn A G 2: 76,785,327 (GRCm39) S683P possibly damaging Het
Other mutations in Fam90a1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6067:Fam90a1b UTSW X 93,400,191 (GRCm39) missense probably benign 0.23
R6078:Fam90a1b UTSW X 93,400,191 (GRCm39) missense probably benign 0.23
R6079:Fam90a1b UTSW X 93,400,191 (GRCm39) missense probably benign 0.23
U15987:Fam90a1b UTSW X 93,400,191 (GRCm39) missense probably benign 0.23
Z1177:Fam90a1b UTSW X 93,400,648 (GRCm39) missense possibly damaging 0.77
Posted On 2013-12-03