Incidental Mutation 'R6699:Fam217b'
ID 528676
Institutional Source Beutler Lab
Gene Symbol Fam217b
Ensembl Gene ENSMUSG00000070476
Gene Name family with sequence similarity 217, member B
Synonyms 9030418K01Rik
MMRRC Submission 044817-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6699 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 178056317-178066221 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 178062210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 58 (M58R)
Ref Sequence ENSEMBL: ENSMUSP00000091805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094251]
AlphaFold A2AJW5
Predicted Effect probably benign
Transcript: ENSMUST00000094251
AA Change: M58R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000091805
Gene: ENSMUSG00000070476
AA Change: M58R

DomainStartEndE-ValueType
Pfam:FAM217 103 331 2.2e-91 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129003
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency 100% (35/35)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 A G 8: 41,279,694 (GRCm39) K695R probably benign Het
Agfg1 G A 1: 82,836,175 (GRCm39) probably null Het
Ankrd44 G A 1: 54,801,604 (GRCm39) T241I probably damaging Het
Car15 T C 16: 17,654,438 (GRCm39) D166G probably null Het
Cpne2 G A 8: 95,290,587 (GRCm39) V391M probably damaging Het
Ddx27 C T 2: 166,862,423 (GRCm39) T155I possibly damaging Het
F830045P16Rik T C 2: 129,302,341 (GRCm39) D417G probably damaging Het
Fcgbpl1 A G 7: 27,843,793 (GRCm39) T894A probably damaging Het
Ftmt T C 18: 52,464,737 (GRCm39) S18P possibly damaging Het
Gm16494 C T 17: 47,327,834 (GRCm39) V17M probably damaging Het
Gm36864 A T 7: 43,888,196 (GRCm39) I342F possibly damaging Het
Grid2 C G 6: 63,908,031 (GRCm39) R224G possibly damaging Het
H4c12 A T 13: 21,934,674 (GRCm39) M1K probably null Het
Hmgcr T C 13: 96,796,717 (GRCm39) E191G probably damaging Het
Hrc A G 7: 44,985,119 (GRCm39) D90G possibly damaging Het
Kbtbd7 A G 14: 79,665,632 (GRCm39) E488G probably benign Het
Krtap26-1 T C 16: 88,444,603 (GRCm39) N6S unknown Het
Mgat2 A G 12: 69,231,555 (GRCm39) D43G probably damaging Het
Mrps30 A T 13: 118,517,134 (GRCm39) S362T probably damaging Het
Or10ag58 A T 2: 87,265,160 (GRCm39) I110F probably benign Het
Or2t43 T A 11: 58,458,031 (GRCm39) I47L possibly damaging Het
Pcdhb11 T A 18: 37,555,990 (GRCm39) V440E probably damaging Het
Pcdhb18 T A 18: 37,625,005 (GRCm39) H778Q probably benign Het
Plekha7 T C 7: 115,734,410 (GRCm39) E1025G probably damaging Het
Rnf39 T C 17: 37,258,121 (GRCm39) W96R probably damaging Het
Rph3al A T 11: 75,791,663 (GRCm39) probably benign Het
Rrm1 T A 7: 102,110,032 (GRCm39) Y556N probably damaging Het
Saal1 A T 7: 46,342,241 (GRCm39) C401S probably damaging Het
Sec14l3 T C 11: 4,025,193 (GRCm39) S268P possibly damaging Het
Tmem54 A G 4: 129,005,118 (GRCm39) I199M probably benign Het
Tomm70a A G 16: 56,963,165 (GRCm39) M395V probably benign Het
Topors A G 4: 40,262,300 (GRCm39) V328A probably damaging Het
Vmn2r61 T G 7: 41,949,580 (GRCm39) S667A probably benign Het
Vmn2r68 G A 7: 84,881,583 (GRCm39) A499V possibly damaging Het
Zcchc14 A T 8: 122,335,355 (GRCm39) probably benign Het
Other mutations in Fam217b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01449:Fam217b APN 2 178,062,943 (GRCm39) missense probably damaging 0.96
IGL01866:Fam217b APN 2 178,062,224 (GRCm39) missense probably benign
IGL01974:Fam217b APN 2 178,063,020 (GRCm39) missense probably damaging 1.00
IGL02376:Fam217b APN 2 178,059,366 (GRCm39) missense probably benign
R0787:Fam217b UTSW 2 178,062,702 (GRCm39) missense probably benign 0.01
R0833:Fam217b UTSW 2 178,062,782 (GRCm39) missense probably benign 0.00
R0836:Fam217b UTSW 2 178,062,782 (GRCm39) missense probably benign 0.00
R1381:Fam217b UTSW 2 178,062,218 (GRCm39) missense probably benign
R1903:Fam217b UTSW 2 178,062,374 (GRCm39) missense probably benign 0.32
R5953:Fam217b UTSW 2 178,062,153 (GRCm39) missense probably damaging 1.00
R7226:Fam217b UTSW 2 178,062,996 (GRCm39) missense probably benign 0.26
R8517:Fam217b UTSW 2 178,062,565 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- CTAGCCAATGACTAGACTCTGG -3'
(R):5'- AAACCGGGTCTATCTCTTCGG -3'

Sequencing Primer
(F):5'- GCCAATGACTAGACTCTGGTTTTAC -3'
(R):5'- AGCTCTGGAGGCGTGAATG -3'
Posted On 2018-07-24