Incidental Mutation 'IGL01974:Fam217b'
ID 181692
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam217b
Ensembl Gene ENSMUSG00000070476
Gene Name family with sequence similarity 217, member B
Synonyms 9030418K01Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01974
Quality Score
Chromosome 2
Chromosomal Location 178056317-178066221 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 178063020 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 328 (R328Q)
Ref Sequence ENSEMBL: ENSMUSP00000091805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094251]
AlphaFold A2AJW5
Predicted Effect probably damaging
Transcript: ENSMUST00000094251
AA Change: R328Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091805
Gene: ENSMUSG00000070476
AA Change: R328Q

Pfam:FAM217 103 331 2.2e-91 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129003
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,381,762 (GRCm39) D1401G possibly damaging Het
Adamts2 G A 11: 50,667,001 (GRCm39) G433S probably damaging Het
Cacna2d2 A C 9: 107,394,621 (GRCm39) S598R probably benign Het
Cdkl3 A G 11: 51,902,064 (GRCm39) Q91R probably damaging Het
Celf2 T C 2: 6,608,842 (GRCm39) Y313C probably damaging Het
Clint1 C A 11: 45,799,862 (GRCm39) N558K probably benign Het
Dcbld1 A G 10: 52,180,777 (GRCm39) H147R probably benign Het
Ednrb A C 14: 104,058,254 (GRCm39) Y350D probably damaging Het
Elp2 C T 18: 24,759,260 (GRCm39) P539L probably damaging Het
Gm9991 G T 1: 90,603,197 (GRCm39) noncoding transcript Het
Herc4 T G 10: 63,135,020 (GRCm39) probably null Het
Hus1 T C 11: 8,950,088 (GRCm39) N211S possibly damaging Het
Immt A G 6: 71,849,842 (GRCm39) D454G probably damaging Het
Itga4 G A 2: 79,103,471 (GRCm39) probably benign Het
Kank1 A T 19: 25,387,596 (GRCm39) N423I possibly damaging Het
Kynu T A 2: 43,571,352 (GRCm39) probably benign Het
Mycbp2 A C 14: 103,380,647 (GRCm39) S3670A possibly damaging Het
Ndufv3 T C 17: 31,740,583 (GRCm39) V30A probably benign Het
Or8k17 G T 2: 86,066,304 (GRCm39) L292I probably benign Het
Per2 C T 1: 91,351,440 (GRCm39) R1022Q probably benign Het
Rad23a T C 8: 85,565,568 (GRCm39) E30G probably damaging Het
Ropn1l T A 15: 31,449,255 (GRCm39) Y91F probably benign Het
Sertad4 C A 1: 192,529,274 (GRCm39) E181* probably null Het
Styxl2 A T 1: 165,928,105 (GRCm39) C502* probably null Het
Tnfrsf1b G A 4: 144,942,421 (GRCm39) P454L probably damaging Het
Ttbk2 G A 2: 120,616,564 (GRCm39) R110W probably damaging Het
Usp17le G T 7: 104,417,642 (GRCm39) S500Y 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
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
R6699:Fam217b UTSW 2 178,062,210 (GRCm39) missense probably benign
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
Posted On 2014-05-07