Incidental Mutation 'PIT4519001:Fam210a'
ID 555147
Institutional Source Beutler Lab
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 # PIT4519001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 68393258-68433404 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 68409020 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 97 (S97T)
Ref Sequence ENSEMBL: ENSMUSP00000045927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042852] [ENSMUST00000152193]
AlphaFold Q8BGY7
Predicted Effect possibly damaging
Transcript: ENSMUST00000042852
AA Change: S97T

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000045927
Gene: ENSMUSG00000038121
AA Change: S97T

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000152193
AA Change: S97T

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122677
Gene: ENSMUSG00000038121
AA Change: S97T

DomainStartEndE-ValueType
low complexity region 97 102 N/A INTRINSIC
Coding Region Coverage
  • 1x: 93.5%
  • 3x: 90.9%
  • 10x: 84.7%
  • 20x: 70.8%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,217,440 (GRCm39) M803K probably benign Het
4930590J08Rik C A 6: 91,894,038 (GRCm39) N218K probably damaging Het
Abcc2 G A 19: 43,807,836 (GRCm39) V826M possibly damaging Het
Abcg2 T C 6: 58,651,792 (GRCm39) S395P probably damaging Het
Adam1b C T 5: 121,640,010 (GRCm39) G345D probably damaging Het
Alx4 T A 2: 93,505,773 (GRCm39) C292S probably benign Het
Amd2 C A 10: 35,586,627 (GRCm39) C310F possibly damaging Het
BC051665 A T 13: 60,931,989 (GRCm39) S137T possibly damaging Het
Bmp1 A G 14: 70,727,469 (GRCm39) F705L possibly damaging Het
Coil C T 11: 88,863,552 (GRCm39) probably benign Het
Col6a6 G A 9: 105,609,462 (GRCm39) P1609S probably benign Het
Cpt1b A T 15: 89,303,066 (GRCm39) F633I probably damaging Het
Dcun1d2 A T 8: 13,311,406 (GRCm39) D194E probably benign Het
Defb4 A G 8: 19,248,752 (GRCm39) R2G possibly damaging Het
Dll4 T C 2: 119,162,897 (GRCm39) V506A probably benign Het
Dop1b A G 16: 93,558,942 (GRCm39) S563G probably benign Het
Dpp7 C A 2: 25,242,460 (GRCm39) G498W probably damaging Het
Fastkd1 T A 2: 69,520,501 (GRCm39) D767V probably damaging Het
Fgg A T 3: 82,920,246 (GRCm39) N342Y probably damaging Het
Gimap6 T G 6: 48,684,995 (GRCm39) R30S probably benign Het
Gm10840 T C 11: 106,051,959 (GRCm39) V95A unknown Het
Herc3 T A 6: 58,853,796 (GRCm39) I614N probably damaging Het
Kdr A T 5: 76,097,556 (GRCm39) S1233R possibly damaging Het
Lrp1 C G 10: 127,443,843 (GRCm39) Q141H possibly damaging Het
Magi2 A T 5: 20,866,344 (GRCm39) K1078N probably damaging Het
Meioc A T 11: 102,570,783 (GRCm39) E838V probably damaging Het
Mmp20 A G 9: 7,628,302 (GRCm39) K17E probably benign Het
Mtor C T 4: 148,608,957 (GRCm39) R1538W probably damaging Het
Notch2 C T 3: 98,005,424 (GRCm39) T296I probably damaging Het
Nup98 T C 7: 101,784,171 (GRCm39) S1054G probably benign Het
Or10ac1 T C 6: 42,515,534 (GRCm39) T141A probably damaging Het
Or2a12 T C 6: 42,904,578 (GRCm39) C138R probably damaging Het
Or5b109 A C 19: 13,212,216 (GRCm39) I201L probably benign Het
Or6f1 T C 7: 85,970,941 (GRCm39) Y73C probably damaging Het
Pipox C A 11: 77,774,001 (GRCm39) W205L probably damaging Het
Plin4 T G 17: 56,410,828 (GRCm39) T1068P probably benign Het
Pou6f2 A G 13: 18,414,149 (GRCm39) S209P unknown Het
Ptpdc1 T C 13: 48,736,632 (GRCm39) T713A probably benign Het
Rgsl1 T C 1: 153,701,716 (GRCm39) Y246C possibly damaging Het
Rnf19b C T 4: 128,969,446 (GRCm39) A354V probably damaging Het
Rsph4a A G 10: 33,785,126 (GRCm39) T346A probably benign Het
Rsrc2 T C 5: 123,883,135 (GRCm39) T16A unknown Het
Scrn3 T C 2: 73,148,768 (GRCm39) V113A possibly damaging Het
Scrn3 T A 2: 73,161,347 (GRCm39) I311K possibly damaging Het
Sfmbt1 T C 14: 30,506,148 (GRCm39) probably null Het
Sin3a A G 9: 57,002,740 (GRCm39) I211V possibly damaging Het
Strn3 T C 12: 51,680,491 (GRCm39) T370A probably benign Het
Sulf1 T G 1: 12,918,395 (GRCm39) N786K probably damaging Het
Taf1b T A 12: 24,597,118 (GRCm39) Y352* probably null Het
Tas2r120 T A 6: 132,634,297 (GRCm39) N126K probably benign Het
Tjap1 C A 17: 46,572,432 (GRCm39) R68L probably benign Het
Tnfsf12 C T 11: 69,586,230 (GRCm39) R66Q probably benign Het
Traj45 A G 14: 54,410,303 (GRCm39) D6G Het
Trappc9 T C 15: 72,824,943 (GRCm39) T541A probably benign Het
Ttc29 A C 8: 79,052,106 (GRCm39) E329A probably benign Het
Vmn1r117 T G 7: 20,617,160 (GRCm39) D296A possibly damaging Het
Vmn1r203 A G 13: 22,708,765 (GRCm39) N182S probably benign Het
Vps53 C A 11: 76,007,999 (GRCm39) R287L probably damaging Het
Vwce G A 19: 10,641,946 (GRCm39) E891K possibly damaging Het
Zfp608 T C 18: 55,079,783 (GRCm39) N334S possibly damaging Het
Zfp648 A G 1: 154,080,687 (GRCm39) H282R probably damaging Het
Other mutations in Fam210a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Fam210a APN 18 68,401,983 (GRCm39) missense probably damaging 1.00
IGL00500:Fam210a APN 18 68,408,854 (GRCm39) missense possibly damaging 0.70
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
Predicted Primers PCR Primer
(F):5'- TGTGGGATACAGTCAACTAAGC -3'
(R):5'- AAAAGGGCCGTTACTTGTGCATAG -3'

Sequencing Primer
(F):5'- GTTGCATAGTAAAATGTTCCAAACC -3'
(R):5'- CGTTACTTGTGCATAGAGGTGAATAC -3'
Posted On 2019-06-07