Incidental Mutation 'IGL01449:Fam217b'
ID 84577
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 # IGL01449
Quality Score
Chromosome 2
Chromosomal Location 178056317-178066221 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 178062943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 302 (S302R)
Ref Sequence ENSEMBL: ENSMUSP00000091805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094251]
AlphaFold A2AJW5
Predicted Effect probably damaging
Transcript: ENSMUST00000094251
AA Change: S302R

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000091805
Gene: ENSMUSG00000070476
AA Change: S302R

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A T 8: 73,198,693 (GRCm39) L33F probably benign Het
Actr8 T C 14: 29,712,927 (GRCm39) probably null Het
Aldh16a1 C A 7: 44,791,391 (GRCm39) A105S probably damaging Het
Angpt2 T C 8: 18,760,641 (GRCm39) T154A probably benign Het
BC051665 A G 13: 60,930,518 (GRCm39) V278A probably damaging Het
Cap1 T C 4: 122,753,980 (GRCm39) T458A probably damaging Het
Clcn3 A T 8: 61,387,632 (GRCm39) S179T probably damaging Het
Cyp2a22 T C 7: 26,632,978 (GRCm39) D408G probably benign Het
Fcho2 A T 13: 98,926,315 (GRCm39) D89E probably benign Het
Fnip1 C T 11: 54,390,334 (GRCm39) R434C probably damaging Het
Gga3 G A 11: 115,479,928 (GRCm39) T261M probably damaging Het
Gm21985 T C 2: 112,169,741 (GRCm39) F292L probably damaging Het
Gm43638 A T 5: 87,634,074 (GRCm39) S178T possibly damaging Het
Igkv10-95 G A 6: 68,657,748 (GRCm39) G68E probably damaging Het
Katnip T A 7: 125,469,857 (GRCm39) V1442D probably damaging Het
Lpcat2 G A 8: 93,597,775 (GRCm39) R180Q possibly damaging Het
Muc6 C T 7: 141,218,527 (GRCm39) A1984T possibly damaging Het
Npy4r T A 14: 33,868,322 (GRCm39) Y322F probably damaging Het
Nwd2 T A 5: 63,962,937 (GRCm39) H840Q probably damaging Het
Or7g26 G A 9: 19,230,529 (GRCm39) G233D probably damaging Het
Osbpl2 G T 2: 179,786,987 (GRCm39) probably benign Het
Pclo T A 5: 14,728,530 (GRCm39) probably benign Het
Pold4 T C 19: 4,282,921 (GRCm39) probably benign Het
Ppp1r16a A G 15: 76,578,494 (GRCm39) probably benign Het
Pprc1 C T 19: 46,053,671 (GRCm39) probably benign Het
Prkcg A G 7: 3,368,135 (GRCm39) D343G probably benign Het
Scaf11 A C 15: 96,317,007 (GRCm39) S852R probably benign Het
Slc31a2 C T 4: 62,210,933 (GRCm39) T22I probably damaging Het
Sox30 T A 11: 45,872,169 (GRCm39) D341E probably damaging Het
Tle4 A G 19: 14,442,704 (GRCm39) S339P probably benign Het
Tsg101 A T 7: 46,558,673 (GRCm39) Y78N probably damaging Het
Ttc1 T A 11: 43,629,630 (GRCm39) S179C probably damaging Het
Txnrd3 T A 6: 89,631,129 (GRCm39) S142T probably benign Het
Ubr4 C A 4: 139,140,047 (GRCm39) A1210E probably damaging Het
Uroc1 C A 6: 90,315,635 (GRCm39) P172Q probably damaging Het
Usp12 T C 5: 146,691,250 (GRCm39) D168G probably benign Het
Vmn1r32 T A 6: 66,529,916 (GRCm39) M287L probably benign Het
Vwa8 C T 14: 79,420,428 (GRCm39) Q1710* probably null Het
Wdfy4 T A 14: 32,825,994 (GRCm39) Q1219L probably damaging Het
Zbtb17 A G 4: 141,190,616 (GRCm39) T145A probably benign Het
Zfp697 T C 3: 98,334,846 (GRCm39) C204R probably damaging Het
Other mutations in Fam217b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-11-11