Incidental Mutation 'R6067:Fam90a1b'
ID 512241
Institutional Source Beutler Lab
Gene Symbol Fam90a1b
Ensembl Gene ENSMUSG00000043549
Gene Name family with sequence similarity 90, member A1B
Synonyms 4932442L08Rik
MMRRC Submission 044231-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.031) question?
Stock # R6067 (G1)
Quality Score 225.009
Status Validated
Chromosome X
Chromosomal Location 93383509-93410513 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93400191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 213 (N213S)
Ref Sequence ENSEMBL: ENSMUSP00000109536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044989] [ENSMUST00000113902] [ENSMUST00000113903]
AlphaFold Q9D4F3
Predicted Effect probably benign
Transcript: ENSMUST00000044989
AA Change: N213S

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000043958
Gene: ENSMUSG00000043549
AA Change: N213S

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: N213S

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000109536
Gene: ENSMUSG00000043549
AA Change: N213S

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (42/43)
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: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 C T 8: 41,277,630 (GRCm39) A7V probably benign Het
Cbfa2t3 T C 8: 123,370,236 (GRCm39) H53R probably benign Het
Insm2 T C 12: 55,646,799 (GRCm39) I181T probably damaging Het
Kitl G A 10: 99,912,768 (GRCm39) probably null Het
Muc4 T A 16: 32,575,621 (GRCm39) probably benign Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Nop14 T C 5: 34,815,295 (GRCm39) D85G probably damaging Het
Pgk1 C A X: 105,238,098 (GRCm39) L85I possibly damaging Het
Rad23b C T 4: 55,370,400 (GRCm39) A142V probably damaging Het
Satl1 T C X: 111,315,613 (GRCm39) T281A probably benign Het
Spmap2 A G 10: 79,420,589 (GRCm39) S159P probably damaging Het
Tbx5 T C 5: 120,021,211 (GRCm39) S406P probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Zfp1 T C 8: 112,396,975 (GRCm39) F299S probably damaging Het
Other mutations in Fam90a1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01523:Fam90a1b APN X 93,400,365 (GRCm39) missense probably benign 0.02
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
Predicted Primers PCR Primer
(F):5'- CTTGAGCATCCTGGCTATCTG -3'
(R):5'- GAGCAGACCAGCATTCATCTG -3'

Sequencing Primer
(F):5'- CTGTATGTGCTGCAGAATACAG -3'
(R):5'- CGATACTCAGGATAGTATGCAAGC -3'
Posted On 2018-04-12