Incidental Mutation 'R4117:Fam210b'
ID 315123
Institutional Source Beutler Lab
Gene Symbol Fam210b
Ensembl Gene ENSMUSG00000027495
Gene Name family with sequence similarity 210, member B
Synonyms 2010011I20Rik
MMRRC Submission 040991-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4117 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 172187485-172197669 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 172193486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 100 (S100P)
Ref Sequence ENSEMBL: ENSMUSP00000028995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028995] [ENSMUST00000028997] [ENSMUST00000109139] [ENSMUST00000109140]
AlphaFold Q9D8B6
Predicted Effect probably benign
Transcript: ENSMUST00000028995
AA Change: S100P

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000028995
Gene: ENSMUSG00000027495
AA Change: S100P

DomainStartEndE-ValueType
Pfam:DUF1279 85 172 4e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000028997
SMART Domains Protein: ENSMUSP00000028997
Gene: ENSMUSG00000027496

DomainStartEndE-ValueType
S_TKc 146 396 2.25e-99 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109139
SMART Domains Protein: ENSMUSP00000104767
Gene: ENSMUSG00000027496

DomainStartEndE-ValueType
S_TKc 124 374 2.25e-99 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109140
SMART Domains Protein: ENSMUSP00000104768
Gene: ENSMUSG00000027496

DomainStartEndE-ValueType
S_TKc 124 374 2.25e-99 SMART
Meta Mutation Damage Score 0.2476 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 97% (31/32)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 T C 2: 155,398,313 (GRCm39) F358L probably damaging Het
Adamts16 A G 13: 70,916,111 (GRCm39) Y775H probably benign Het
Bard1 A T 1: 71,085,922 (GRCm39) H594Q probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cenpt G A 8: 106,576,332 (GRCm39) S73L probably benign Het
Ctdnep1 C A 11: 69,879,497 (GRCm39) A7D probably damaging Het
Fyb1 A C 15: 6,659,597 (GRCm39) D434A probably damaging Het
H2-T15 T C 17: 36,368,496 (GRCm39) D144G probably damaging Het
Heph T C X: 95,544,221 (GRCm39) V615A probably benign Het
Icam5 T A 9: 20,948,886 (GRCm39) V746E probably damaging Het
Maml2 A G 9: 13,617,230 (GRCm39) Q192R probably damaging Het
Npas4 T C 19: 5,037,391 (GRCm39) Y301C probably damaging Het
Nup205 C T 6: 35,217,947 (GRCm39) Q1767* probably null Het
Or51f5 T A 7: 102,423,684 (GRCm39) probably null Het
Pigg A G 5: 108,495,908 (GRCm39) R982G probably benign Het
Plekhg2 A T 7: 28,060,313 (GRCm39) H1005Q probably benign Het
Rdh12 C T 12: 79,260,419 (GRCm39) R172C probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Semp2l2b T A 10: 21,943,615 (GRCm39) N122Y probably benign Het
Septin4 T C 11: 87,459,108 (GRCm39) F494S probably damaging Het
Serpinb9 T A 13: 33,199,579 (GRCm39) D291E probably benign Het
She A T 3: 89,759,679 (GRCm39) Y394F probably damaging Het
Sipa1l2 T C 8: 126,195,249 (GRCm39) S830G probably damaging Het
Stmn4 T C 14: 66,598,581 (GRCm39) *217Q probably null Het
Stx17 A G 4: 48,180,689 (GRCm39) D178G probably damaging Het
Tbc1d9 T G 8: 83,992,776 (GRCm39) I960S possibly damaging Het
Ubxn10 G T 4: 138,448,276 (GRCm39) D133E probably benign Het
Vmn2r42 T C 7: 8,197,839 (GRCm39) Y260C probably damaging Het
Vmn2r7 A C 3: 64,623,138 (GRCm39) probably benign Het
Zfp143 C T 7: 109,691,120 (GRCm39) T557I probably damaging Het
Zfp607b A G 7: 27,398,107 (GRCm39) I64V probably damaging Het
Other mutations in Fam210b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01636:Fam210b APN 2 172,193,460 (GRCm39) missense probably damaging 0.99
IGL02142:Fam210b APN 2 172,194,497 (GRCm39) unclassified probably benign
IGL02152:Fam210b APN 2 172,193,423 (GRCm39) missense probably benign 0.02
IGL02531:Fam210b APN 2 172,194,675 (GRCm39) missense probably damaging 0.99
IGL03051:Fam210b APN 2 172,194,612 (GRCm39) missense probably benign 0.21
R0597:Fam210b UTSW 2 172,187,773 (GRCm39) splice site probably benign
R4281:Fam210b UTSW 2 172,193,468 (GRCm39) missense probably damaging 0.98
R4978:Fam210b UTSW 2 172,187,585 (GRCm39) missense probably damaging 0.99
R4983:Fam210b UTSW 2 172,187,585 (GRCm39) missense probably damaging 0.99
R5150:Fam210b UTSW 2 172,193,468 (GRCm39) missense probably damaging 0.98
R9544:Fam210b UTSW 2 172,194,633 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGATAAGGATAAAGGCCGGT -3'
(R):5'- CACACATTAGCTTAGCTTACAGC -3'

Sequencing Primer
(F):5'- GGTGGCAGCTACCAACCTAAC -3'
(R):5'- TGGGCAAGTGATTCTACCGAC -3'
Posted On 2015-05-14