Incidental Mutation 'IGL01128:Fam117b'
ID50317
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam117b
Ensembl Gene ENSMUSG00000041040
Gene Namefamily with sequence similarity 117, member B
Synonyms6330416D14Rik, 2810425F24Rik, Als2cr13
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.130) question?
Stock #IGL01128
Quality Score
Status
Chromosome1
Chromosomal Location59913006-59985346 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 59969018 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 337 (F337Y)
Ref Sequence ENSEMBL: ENSMUSP00000041671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036540]
Predicted Effect probably damaging
Transcript: ENSMUST00000036540
AA Change: F337Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000041671
Gene: ENSMUSG00000041040
AA Change: F337Y

DomainStartEndE-ValueType
low complexity region 9 29 N/A INTRINSIC
low complexity region 50 104 N/A INTRINSIC
low complexity region 114 144 N/A INTRINSIC
Pfam:FAM117 211 524 2.9e-125 PFAM
low complexity region 531 542 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151630
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Adgrf5 G T 17: 43,422,509 D75Y possibly damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Ahi1 A G 10: 21,074,433 T128A probably benign Het
Bves T A 10: 45,353,848 F249L probably damaging Het
Capns1 T C 7: 30,190,133 I214V probably benign Het
Cgnl1 G T 9: 71,724,561 Q503K possibly damaging Het
Ep300 A G 15: 81,630,006 probably benign Het
Fam178b A T 1: 36,644,354 V95E probably damaging Het
Gak T A 5: 108,592,370 M560L probably damaging Het
Gna11 C A 10: 81,530,884 A331S probably damaging Het
Gtf3c3 A C 1: 54,428,876 F201V possibly damaging Het
Kat6b G A 14: 21,660,860 R734H probably benign Het
Lag3 T C 6: 124,909,417 D191G probably damaging Het
Mttp T A 3: 138,133,997 probably null Het
Nlgn3 A T X: 101,320,092 T790S probably benign Het
Olfr1487 G A 19: 13,619,746 E195K probably damaging Het
Olfr743 A G 14: 50,533,949 D179G probably damaging Het
Pkd2l2 T A 18: 34,417,015 Y238N probably damaging Het
Plg A T 17: 12,396,699 probably benign Het
Ptprm A T 17: 67,042,101 C376S probably damaging Het
Rexo1 T C 10: 80,549,739 D495G probably benign Het
Rims1 A T 1: 22,534,175 V315D probably damaging Het
Ros1 G A 10: 52,142,328 Q745* probably null Het
Satb1 A G 17: 51,805,289 V99A probably damaging Het
Sema3e C T 5: 14,232,115 P422S probably damaging Het
Stkld1 G T 2: 26,951,471 W476L probably benign Het
Syna T C 5: 134,559,480 D205G probably damaging Het
Tas2r134 G T 2: 51,627,659 C50F probably damaging Het
Togaram1 A G 12: 64,980,876 T880A probably benign Het
Uckl1 T C 2: 181,570,337 E363G probably damaging Het
Yeats2 T A 16: 20,161,968 probably benign Het
Other mutations in Fam117b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01596:Fam117b APN 1 59952971 nonsense probably null
IGL02104:Fam117b APN 1 59949119 missense probably benign 0.36
IGL02129:Fam117b APN 1 59981423 missense probably benign 0.07
IGL03387:Fam117b APN 1 59952960 missense probably benign 0.26
R0690:Fam117b UTSW 1 59958353 missense possibly damaging 0.65
R1074:Fam117b UTSW 1 59958326 missense possibly damaging 0.88
R1435:Fam117b UTSW 1 59969063 missense possibly damaging 0.80
R2215:Fam117b UTSW 1 59969060 missense probably damaging 1.00
R2267:Fam117b UTSW 1 59913630 missense probably damaging 1.00
R2268:Fam117b UTSW 1 59913630 missense probably damaging 1.00
R5765:Fam117b UTSW 1 59970472 splice site probably null
R6228:Fam117b UTSW 1 59969048 missense probably damaging 1.00
R6439:Fam117b UTSW 1 59981572 missense probably benign 0.45
R6921:Fam117b UTSW 1 59952935 missense probably damaging 1.00
R7633:Fam117b UTSW 1 59981534 missense probably damaging 1.00
R7827:Fam117b UTSW 1 59913678 missense possibly damaging 0.94
R7867:Fam117b UTSW 1 59974887 missense probably damaging 0.98
R8305:Fam117b UTSW 1 59913623 missense probably benign 0.18
X0004:Fam117b UTSW 1 59974978 missense probably damaging 0.96
Posted On2013-06-21