Incidental Mutation 'IGL00490:Fam210a'
ID5704
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam210a
Ensembl Gene ENSMUSG00000038121
Gene Namefamily with sequence similarity 210, member A
Synonyms4933403F05Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.798) question?
Stock #IGL00490
Quality Score
Status
Chromosome18
Chromosomal Location68260187-68300333 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 68268912 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Asparagine at position 210 (T210N)
Ref Sequence ENSEMBL: ENSMUSP00000045927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042852]
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: 130,011,872 E837G possibly damaging Het
Atp13a3 A G 16: 30,352,354 M291T probably benign Het
Coq8b C A 7: 27,257,477 H518Q probably benign Het
Crebrf A G 17: 26,743,093 D388G probably damaging Het
Cyp2d10 A T 15: 82,403,314 S244T possibly damaging Het
Ddr2 A T 1: 170,005,194 L99H probably damaging Het
Dennd1a G T 2: 37,801,152 D251E probably damaging Het
Gigyf2 C A 1: 87,436,850 Q951K probably damaging Het
Gramd1b T A 9: 40,310,041 I280F probably damaging Het
Gsdmc3 T A 15: 63,859,677 K335N probably benign Het
Loxhd1 A T 18: 77,431,074 T993S possibly damaging Het
Mfsd6 A G 1: 52,708,254 L484P probably damaging Het
Myt1l T A 12: 29,827,424 V358E unknown Het
Mzt1 A G 14: 99,040,670 probably benign Het
Nrxn2 C A 19: 6,473,593 H514Q possibly damaging Het
Nup214 G A 2: 32,033,979 E2K probably damaging Het
Pcdhb4 G T 18: 37,309,916 G760W possibly damaging Het
Ptger2 T C 14: 45,001,741 probably benign Het
Serpinb1c T C 13: 32,883,975 K213E probably damaging Het
Smcr8 T A 11: 60,778,632 probably null Het
Spef2 A T 15: 9,740,535 D46E probably damaging Het
Tbc1d32 G A 10: 56,155,765 P689L probably damaging Het
Tep1 C A 14: 50,833,473 W2123L probably damaging Het
Thg1l T C 11: 45,954,221 E8G probably benign Het
Tmem236 A G 2: 14,219,378 Y326C probably damaging Het
Trip4 C T 9: 65,833,410 G573R probably damaging Het
Trrap C T 5: 144,825,225 T2320I probably benign Het
Tsnaxip1 A G 8: 105,842,184 N435S probably damaging Het
Ube3a A G 7: 59,272,110 N77D probably damaging Het
Uvrag A T 7: 98,979,741 I373N probably damaging Het
Other mutations in Fam210a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Fam210a APN 18 68275783 missense possibly damaging 0.70
PIT4519001:Fam210a UTSW 18 68275949 missense possibly damaging 0.92
R1660:Fam210a UTSW 18 68276096 missense probably benign 0.22
R4988:Fam210a UTSW 18 68276147 missense probably benign 0.17
Posted On2012-04-20