Incidental Mutation 'IGL02376:Fam217b'
ID 291119
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 # IGL02376
Quality Score
Chromosome 2
Chromosomal Location 178056317-178066221 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 178059366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 3 (D3G)
Ref Sequence ENSEMBL: ENSMUSP00000091805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058678] [ENSMUST00000094251]
AlphaFold A2AJW5
Predicted Effect probably benign
Transcript: ENSMUST00000058678
SMART Domains Protein: ENSMUSP00000061402
Gene: ENSMUSG00000049999

low complexity region 31 46 N/A INTRINSIC
low complexity region 63 76 N/A INTRINSIC
Pfam:CBM_21 151 258 1e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094251
AA Change: D3G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000091805
Gene: ENSMUSG00000070476
AA Change: D3G

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A G 6: 88,815,466 (GRCm39) probably benign Het
Adcy3 G A 12: 4,251,031 (GRCm39) E597K possibly damaging Het
Adcy9 A G 16: 4,236,544 (GRCm39) V289A probably benign Het
Akr1d1 A T 6: 37,507,220 (GRCm39) D14V probably damaging Het
Ankrd12 T C 17: 66,349,524 (GRCm39) probably benign Het
Arap3 T C 18: 38,111,506 (GRCm39) T1137A possibly damaging Het
Arhgef4 A T 1: 34,845,140 (GRCm39) Q77L probably damaging Het
Arhgef7 A G 8: 11,867,735 (GRCm39) T444A probably damaging Het
Arr3 A C X: 99,658,281 (GRCm39) K281Q probably damaging Het
Arrdc2 A T 8: 71,291,623 (GRCm39) I114N probably benign Het
Atg2b A T 12: 105,611,727 (GRCm39) F1217Y probably damaging Het
C1qtnf1 A C 11: 118,338,894 (GRCm39) Y188S probably benign Het
Cbx6 C A 15: 79,712,500 (GRCm39) R309L probably benign Het
Cfap410 A G 10: 77,820,388 (GRCm39) probably benign Het
Chrna9 T C 5: 66,128,502 (GRCm39) S237P probably damaging Het
Dapk1 G A 13: 60,844,208 (GRCm39) V76I probably benign Het
Elk4 T A 1: 131,942,288 (GRCm39) N53K probably benign Het
Epha7 A C 4: 28,951,287 (GRCm39) T799P probably damaging Het
Exosc2 G A 2: 31,569,887 (GRCm39) V233M possibly damaging Het
Farp1 T A 14: 121,510,268 (GRCm39) N755K probably damaging Het
Fer A G 17: 64,241,341 (GRCm39) E327G possibly damaging Het
Fmnl3 A T 15: 99,216,844 (GRCm39) F1017Y possibly damaging Het
Gabbr2 A C 4: 46,684,300 (GRCm39) I658S probably damaging Het
Gemin2 A G 12: 59,068,506 (GRCm39) D195G probably benign Het
Gtf3c1 T A 7: 125,268,168 (GRCm39) Y875F probably benign Het
Hnrnpr G A 4: 136,046,766 (GRCm39) G149D probably damaging Het
Krt74 A C 15: 101,662,938 (GRCm39) noncoding transcript Het
Ltf A G 9: 110,858,692 (GRCm39) D480G probably benign Het
Map1b A G 13: 99,572,103 (GRCm39) L206P probably damaging Het
Meis1 T C 11: 18,831,752 (GRCm39) M429V probably benign Het
Myh4 C A 11: 67,136,554 (GRCm39) T444N probably benign Het
Nckap1l A T 15: 103,379,658 (GRCm39) Y315F possibly damaging Het
Ndst3 A G 3: 123,350,447 (GRCm39) I646T probably damaging Het
Ndufv1 T C 19: 4,057,823 (GRCm39) probably null Het
Ogdhl T C 14: 32,065,275 (GRCm39) Y710H probably damaging Het
Or4c52 A G 2: 89,845,804 (GRCm39) I177V probably benign Het
Otud7b A G 3: 96,062,354 (GRCm39) K531R possibly damaging Het
Pax3 T C 1: 78,108,929 (GRCm39) Y243C probably damaging Het
Pde1a A G 2: 79,705,567 (GRCm39) probably benign Het
Pik3cb C T 9: 98,934,405 (GRCm39) M813I probably benign Het
Prss42 A T 9: 110,632,175 (GRCm39) D302V possibly damaging Het
Rad52 T C 6: 119,892,191 (GRCm39) probably benign Het
Reln A T 5: 22,285,789 (GRCm39) Y393* probably null Het
Rhbdd3 T C 11: 5,053,192 (GRCm39) probably benign Het
Sbf2 C T 7: 110,062,163 (GRCm39) G138D probably damaging Het
Slco1a1 A T 6: 141,870,060 (GRCm39) probably null Het
Smg9 A G 7: 24,114,455 (GRCm39) I265V probably benign Het
Sppl2b G T 10: 80,703,432 (GRCm39) E565* probably null Het
Stx6 T A 1: 155,077,725 (GRCm39) V244D probably benign Het
Tle4 T C 19: 14,571,768 (GRCm39) N78D probably damaging Het
Tmcc3 A G 10: 94,414,429 (GRCm39) I44V possibly damaging Het
Tnnt3 C T 7: 142,066,295 (GRCm39) T220I possibly damaging Het
Ttn A T 2: 76,557,811 (GRCm39) D29798E possibly damaging Het
Vtcn1 A T 3: 100,799,981 (GRCm39) M281L probably benign Het
Zfp595 T C 13: 67,464,514 (GRCm39) K586R possibly damaging Het
Zfta C T 19: 7,399,741 (GRCm39) P496L probably damaging 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
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 2015-04-16