Incidental Mutation 'IGL01974:Fam217b'
ID181692
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam217b
Ensembl Gene ENSMUSG00000070476
Gene Namefamily with sequence similarity 217, member B
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01974
Quality Score
Status
Chromosome2
Chromosomal Location178414524-178424428 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 178421227 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 328 (R328Q)
Ref Sequence ENSEMBL: ENSMUSP00000091805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094251]
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

DomainStartEndE-ValueType
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: 32,659,805 D1401G possibly damaging Het
Adamts2 G A 11: 50,776,174 G433S probably damaging Het
Cacna2d2 A C 9: 107,517,422 S598R probably benign Het
Cdkl3 A G 11: 52,011,237 Q91R probably damaging Het
Celf2 T C 2: 6,604,031 Y313C probably damaging Het
Clint1 C A 11: 45,909,035 N558K probably benign Het
Dcbld1 A G 10: 52,304,681 H147R probably benign Het
Dusp27 A T 1: 166,100,536 C502* probably null Het
Ednrb A C 14: 103,820,818 Y350D probably damaging Het
Elp2 C T 18: 24,626,203 P539L probably damaging Het
Gm9991 G T 1: 90,675,475 noncoding transcript Het
Herc4 T G 10: 63,299,241 probably null Het
Hus1 T C 11: 9,000,088 N211S possibly damaging Het
Immt A G 6: 71,872,858 D454G probably damaging Het
Itga4 G A 2: 79,273,127 probably benign Het
Kank1 A T 19: 25,410,232 N423I possibly damaging Het
Kynu T A 2: 43,681,340 probably benign Het
Mycbp2 A C 14: 103,143,211 S3670A possibly damaging Het
Ndufv3 T C 17: 31,521,609 V30A probably benign Het
Olfr1048 G T 2: 86,235,960 L292I probably benign Het
Per2 C T 1: 91,423,718 R1022Q probably benign Het
Rad23a T C 8: 84,838,939 E30G probably damaging Het
Ropn1l T A 15: 31,449,109 Y91F probably benign Het
Sertad4 C A 1: 192,846,966 E181* probably null Het
Tnfrsf1b G A 4: 145,215,851 P454L probably damaging Het
Ttbk2 G A 2: 120,786,083 R110W probably damaging Het
Usp17le G T 7: 104,768,435 S500Y probably benign Het
Other mutations in Fam217b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01449:Fam217b APN 2 178421150 missense probably damaging 0.96
IGL01866:Fam217b APN 2 178420431 missense probably benign
IGL02376:Fam217b APN 2 178417573 missense probably benign
R0787:Fam217b UTSW 2 178420909 missense probably benign 0.01
R0833:Fam217b UTSW 2 178420989 missense probably benign 0.00
R0836:Fam217b UTSW 2 178420989 missense probably benign 0.00
R1381:Fam217b UTSW 2 178420425 missense probably benign
R1903:Fam217b UTSW 2 178420581 missense probably benign 0.32
R5953:Fam217b UTSW 2 178420360 missense probably damaging 1.00
R6699:Fam217b UTSW 2 178420417 missense probably benign
R7226:Fam217b UTSW 2 178421203 missense probably benign 0.26
R8517:Fam217b UTSW 2 178420772 missense probably benign 0.30
Posted On2014-05-07