Incidental Mutation 'R9075:Fam210a'
ID 689759
Institutional Source Beutler Lab
Gene Symbol Fam210a
Ensembl Gene ENSMUSG00000038121
Gene Name family with sequence similarity 210, member A
Synonyms 4933403F05Rik
MMRRC Submission 068896-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9075 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 68393258-68433404 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 68405693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 177 (V177M)
Ref Sequence ENSEMBL: ENSMUSP00000045927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042852] [ENSMUST00000152193]
AlphaFold Q8BGY7
Predicted Effect probably damaging
Transcript: ENSMUST00000042852
AA Change: V177M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000045927
Gene: ENSMUSG00000038121
AA Change: V177M

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 probably benign
Transcript: ENSMUST00000152193
SMART Domains Protein: ENSMUSP00000122677
Gene: ENSMUSG00000038121

DomainStartEndE-ValueType
low complexity region 97 102 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (50/50)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T G 1: 120,097,014 (GRCm39) S137A Het
Actl6a G T 3: 32,769,641 (GRCm39) C152F possibly damaging Het
Adam26b A T 8: 43,973,405 (GRCm39) D532E probably benign Het
Adamts6 A G 13: 104,598,793 (GRCm39) N878S probably benign Het
Ap1b1 T C 11: 4,975,597 (GRCm39) S387P possibly damaging Het
Cdh23 A G 10: 60,153,541 (GRCm39) S2350P probably damaging Het
Cdh4 A G 2: 179,501,940 (GRCm39) D300G probably damaging Het
Cngb1 T C 8: 95,979,993 (GRCm39) Y969C probably damaging Het
Cog8 C T 8: 107,779,208 (GRCm39) M356I probably damaging Het
Fam168a T A 7: 100,484,582 (GRCm39) V224D probably damaging Het
Flnc A T 6: 29,447,646 (GRCm39) I1150F probably damaging Het
Frmd4a G T 2: 4,608,765 (GRCm39) G878W probably damaging Het
Gm11555 C T 11: 99,540,694 (GRCm39) C95Y Het
Gns A G 10: 121,226,542 (GRCm39) N397S probably benign Het
Grin2b CA C 6: 135,709,509 (GRCm39) probably null Het
Ifi204 T A 1: 173,589,282 (GRCm39) N50Y possibly damaging Het
Iqub T A 6: 24,446,124 (GRCm39) I767F probably damaging Het
Lama2 A T 10: 26,857,588 (GRCm39) L3087Q probably damaging Het
Mars2 A G 1: 55,278,154 (GRCm39) T586A probably damaging Het
Mrps28 G T 3: 8,867,312 (GRCm39) S185R probably benign Het
Nphp4 T C 4: 152,591,905 (GRCm39) Y363H probably damaging Het
Nploc4 T C 11: 120,304,526 (GRCm39) T232A possibly damaging Het
Pate3 A G 9: 35,557,893 (GRCm39) probably null Het
Pcdh18 G A 3: 49,699,339 (GRCm39) A1041V probably benign Het
Plpp5 T A 8: 26,210,379 (GRCm39) Y50N probably benign Het
Ppp4r4 G T 12: 103,570,290 (GRCm39) G755* probably null Het
Psmd14 T A 2: 61,607,021 (GRCm39) V156D probably damaging Het
Ptch1 G A 13: 63,681,335 (GRCm39) R651C possibly damaging Het
Rai14 T C 15: 10,589,403 (GRCm39) E265G probably damaging Het
Rbmx G A X: 56,432,717 (GRCm39) P301L probably benign Het
Rimbp2 T A 5: 128,851,312 (GRCm39) D878V probably damaging Het
Sarm1 T C 11: 78,374,023 (GRCm39) K668R probably benign Het
Slc10a2 C A 8: 5,155,267 (GRCm39) probably benign Het
Slc15a3 T C 19: 10,826,094 (GRCm39) S262P probably damaging Het
Slf2 T C 19: 44,930,860 (GRCm39) Y646H probably damaging Het
Smpd4 C T 16: 17,457,849 (GRCm39) P406S unknown Het
Sv2b A G 7: 74,789,845 (GRCm39) V396A possibly damaging Het
Swt1 A G 1: 151,246,245 (GRCm39) probably benign Het
Sympk A G 7: 18,776,563 (GRCm39) E485G probably benign Het
Tbc1d9 T C 8: 83,982,501 (GRCm39) V762A probably benign Het
Thbs2 T A 17: 14,900,587 (GRCm39) H540L probably benign Het
Tie1 C A 4: 118,341,356 (GRCm39) G275V possibly damaging Het
Tmprss15 T C 16: 78,754,259 (GRCm39) Y998C probably damaging Het
Trappc10 A T 10: 78,040,130 (GRCm39) V607E possibly damaging Het
Trim69 A T 2: 122,009,264 (GRCm39) R441S probably benign Het
Trio G T 15: 27,774,022 (GRCm39) S1814* probably null Het
Vmn1r192 C T 13: 22,371,333 (GRCm39) V296I probably benign Het
Vmn1r223 A G 13: 23,433,600 (GRCm39) S65G possibly damaging Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn2r41 A G 7: 8,141,250 (GRCm39) V738A probably benign Het
Zfp408 A G 2: 91,476,065 (GRCm39) V363A possibly damaging Het
Zfp583 A T 7: 6,319,870 (GRCm39) C381S 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
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
R9557:Fam210a UTSW 18 68,408,848 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- CTCGCTGCTCATTAGAAAGACG -3'
(R):5'- AGAACCCGCACTAGGCTTTG -3'

Sequencing Primer
(F):5'- TCGCTGCTCATTAGAAAGACGATAGG -3'
(R):5'- GGCTGGCCTCCTATTCCTGAG -3'
Posted On 2021-11-19