Incidental Mutation 'R6079:Fam90a1b'
ID 482872
Institutional Source Beutler Lab
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 # R6079 (G1)
Quality Score 221.999
Status Not 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: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.2%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Abcc8 T C 7: 45,755,268 (GRCm39) M1511V probably benign Het
Adamts2 T A 11: 50,647,533 (GRCm39) I302N probably damaging Het
Adgra2 G A 8: 27,604,457 (GRCm39) A511T probably damaging Het
Anxa10 C A 8: 62,530,960 (GRCm39) M83I probably benign Het
Atp2b4 TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT 1: 133,629,440 (GRCm39) probably benign Het
Cdc20b T C 13: 113,220,576 (GRCm39) F485S probably damaging Het
Edc4 C T 8: 106,614,180 (GRCm39) R19C probably benign Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Itgae A G 11: 73,006,400 (GRCm39) E356G possibly damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lrrc19 A T 4: 94,531,580 (GRCm39) F11I probably benign Het
Msl1 G T 11: 98,689,519 (GRCm39) G9C probably benign Het
Muc4 T A 16: 32,575,621 (GRCm39) probably benign Het
Myo7a C T 7: 97,714,997 (GRCm39) W1558* probably null Het
Or5p81 T A 7: 108,267,412 (GRCm39) V263E probably damaging Het
Pgk1 C A X: 105,238,098 (GRCm39) L85I possibly damaging Het
Ppp4r1 G A 17: 66,121,343 (GRCm39) V268I 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
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Synrg A G 11: 83,915,126 (GRCm39) E1044G probably damaging Het
Syt12 T C 19: 4,506,896 (GRCm39) D83G probably benign Het
Taf4b T C 18: 14,955,255 (GRCm39) C603R possibly damaging Het
Tbx5 T C 5: 120,021,211 (GRCm39) S406P probably benign Het
Tfe3 T C X: 7,637,288 (GRCm39) L231P probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Vmn2r79 T A 7: 86,653,319 (GRCm39) V528D possibly damaging Het
Other mutations in Fam90a1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01523:Fam90a1b APN X 93,400,365 (GRCm39) missense probably benign 0.02
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
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'- ATCTTGAGCATCCTGGCTATC -3'
(R):5'- AGCAGACCAGCATTCATCTG -3'

Sequencing Primer
(F):5'- CTGTATGTGCTGCAGAATACAG -3'
(R):5'- CGATACTCAGGATAGTATGCAAGC -3'
Posted On 2017-07-14