Incidental Mutation 'IGL00490:Fam210a'
ID 5704
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam210a
Ensembl Gene ENSMUSG00000038121
Gene Name family with sequence similarity 210, member A
Synonyms 4933403F05Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00490
Quality Score
Status
Chromosome 18
Chromosomal Location 68393258-68433404 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 68401983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 210 (T210N)
Ref Sequence ENSEMBL: ENSMUSP00000045927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042852]
AlphaFold Q8BGY7
Predicted Effect probably damaging
Transcript: ENSMUST00000042852
AA Change: T210N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045927
Gene: ENSMUSG00000038121
AA Change: T210N

DomainStartEndE-ValueType
low complexity region 97 113 N/A INTRINSIC
Pfam:DUF1279 125 212 4e-26 PFAM
coiled coil region 236 266 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality after E9.5. Mice heterozygous for this allele exhibit decreased bone strength, compact bone thickness, compact bone volume, bone mineral density and bone ossification with increased osteoclasts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 A G 4: 129,905,665 (GRCm39) E837G possibly damaging Het
Atp13a3 A G 16: 30,171,172 (GRCm39) M291T probably benign Het
Coq8b C A 7: 26,956,902 (GRCm39) H518Q probably benign Het
Crebrf A G 17: 26,962,067 (GRCm39) D388G probably damaging Het
Cyp2d10 A T 15: 82,287,515 (GRCm39) S244T possibly damaging Het
Ddr2 A T 1: 169,832,763 (GRCm39) L99H probably damaging Het
Dennd1a G T 2: 37,691,164 (GRCm39) D251E probably damaging Het
Gigyf2 C A 1: 87,364,572 (GRCm39) Q951K probably damaging Het
Gramd1b T A 9: 40,221,337 (GRCm39) I280F probably damaging Het
Gsdmc3 T A 15: 63,731,526 (GRCm39) K335N probably benign Het
Loxhd1 A T 18: 77,518,770 (GRCm39) T993S possibly damaging Het
Mfsd6 A G 1: 52,747,413 (GRCm39) L484P probably damaging Het
Myt1l T A 12: 29,877,423 (GRCm39) V358E unknown Het
Mzt1 A G 14: 99,278,106 (GRCm39) probably benign Het
Nrxn2 C A 19: 6,523,623 (GRCm39) H514Q possibly damaging Het
Nup214 G A 2: 31,923,991 (GRCm39) E2K probably damaging Het
Pcdhb4 G T 18: 37,442,969 (GRCm39) G760W possibly damaging Het
Ptger2 T C 14: 45,239,198 (GRCm39) probably benign Het
Serpinb1c T C 13: 33,067,958 (GRCm39) K213E probably damaging Het
Smcr8 T A 11: 60,669,458 (GRCm39) probably null Het
Spef2 A T 15: 9,740,621 (GRCm39) D46E probably damaging Het
Tbc1d32 G A 10: 56,031,861 (GRCm39) P689L probably damaging Het
Tep1 C A 14: 51,070,930 (GRCm39) W2123L probably damaging Het
Thg1l T C 11: 45,845,048 (GRCm39) E8G probably benign Het
Tmem236 A G 2: 14,224,189 (GRCm39) Y326C probably damaging Het
Trip4 C T 9: 65,740,692 (GRCm39) G573R probably damaging Het
Trrap C T 5: 144,762,035 (GRCm39) T2320I probably benign Het
Tsnaxip1 A G 8: 106,568,816 (GRCm39) N435S probably damaging Het
Ube3a A G 7: 58,921,858 (GRCm39) N77D probably damaging Het
Uvrag A T 7: 98,628,948 (GRCm39) I373N probably damaging Het
Other mutations in Fam210a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Fam210a APN 18 68,408,854 (GRCm39) missense possibly damaging 0.70
PIT4519001:Fam210a UTSW 18 68,409,020 (GRCm39) missense possibly damaging 0.92
R1660:Fam210a UTSW 18 68,409,167 (GRCm39) missense probably benign 0.22
R4988:Fam210a UTSW 18 68,409,218 (GRCm39) missense probably benign 0.17
R8885:Fam210a UTSW 18 68,409,215 (GRCm39) missense probably benign
R9075:Fam210a UTSW 18 68,405,693 (GRCm39) missense probably damaging 1.00
R9557:Fam210a UTSW 18 68,408,848 (GRCm39) frame shift probably null
Posted On 2012-04-20