Incidental Mutation 'IGL02313:Fam129c'
ID287890
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam129c
Ensembl Gene ENSMUSG00000043243
Gene Namefamily with sequence similarity 129, member C
SynonymsBcnp1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02313
Quality Score
Status
Chromosome8
Chromosomal Location71597648-71607936 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 71602860 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 305 (R305G)
Ref Sequence ENSEMBL: ENSMUSP00000123432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000125339] [ENSMUST00000126559] [ENSMUST00000127626] [ENSMUST00000143662]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124485
Predicted Effect probably benign
Transcript: ENSMUST00000125339
SMART Domains Protein: ENSMUSP00000119708
Gene: ENSMUSG00000043243

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
low complexity region 110 119 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125525
Predicted Effect probably benign
Transcript: ENSMUST00000126559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127285
Predicted Effect probably benign
Transcript: ENSMUST00000127626
SMART Domains Protein: ENSMUSP00000122042
Gene: ENSMUSG00000031807

DomainStartEndE-ValueType
Pfam:Glucosamine_iso 18 214 7.2e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141594
Predicted Effect possibly damaging
Transcript: ENSMUST00000143662
AA Change: R305G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123432
Gene: ENSMUSG00000043243
AA Change: R305G

DomainStartEndE-ValueType
low complexity region 9 20 N/A INTRINSIC
PH 68 196 4.94e-4 SMART
low complexity region 218 230 N/A INTRINSIC
low complexity region 260 269 N/A INTRINSIC
low complexity region 437 448 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13c T A 3: 157,947,934 N136K probably damaging Het
Aph1b A T 9: 66,790,673 probably benign Het
Atf7ip A G 6: 136,606,720 K1250E probably damaging Het
Atp8b2 T C 3: 89,949,853 N400S probably damaging Het
Brca2 C A 5: 150,538,661 S630Y probably damaging Het
Chd6 T A 2: 160,965,675 E1873V probably damaging Het
Chrna10 T C 7: 102,112,029 probably benign Het
Col6a3 A G 1: 90,811,606 L907P probably damaging Het
Cxcr6 A G 9: 123,810,705 N264S probably damaging Het
Dgkg A G 16: 22,570,230 probably benign Het
Dpysl2 T G 14: 66,824,390 M256L probably benign Het
Dsp G T 13: 38,196,523 E1816* probably null Het
Fam13b T C 18: 34,454,656 K530E probably damaging Het
Fam49a A G 12: 12,364,751 T248A possibly damaging Het
Fastk T C 5: 24,443,092 H242R probably damaging Het
Fbxw28 A T 9: 109,337,352 H145Q possibly damaging Het
Heatr6 T C 11: 83,778,892 L910P probably damaging Het
Hmcn2 A G 2: 31,453,605 T4642A possibly damaging Het
Hspg2 A G 4: 137,508,389 T167A probably benign Het
Igsf10 A G 3: 59,330,690 L690P probably benign Het
Klhdc10 G A 6: 30,439,866 probably null Het
Krt31 A G 11: 100,048,396 Y232H probably damaging Het
Lsm3 A G 6: 91,516,088 probably benign Het
Mfn2 T A 4: 147,885,490 I375F probably damaging Het
Mfrp A T 9: 44,102,874 I180F probably damaging Het
Msh3 T C 13: 92,349,312 E168G possibly damaging Het
Naa16 A T 14: 79,384,668 V77D probably damaging Het
Nav2 T C 7: 49,558,773 S1570P probably damaging Het
Numa1 C T 7: 102,000,232 R1057* probably null Het
Nup210l G A 3: 90,122,792 A271T probably damaging Het
Ogdh T C 11: 6,355,400 V965A probably damaging Het
Olfr63 C A 17: 33,269,665 Q314K probably benign Het
Olfr734 A T 14: 50,320,016 V273E probably damaging Het
Olfr818 A G 10: 129,945,903 L53P probably damaging Het
Olfr836 A T 9: 19,121,375 N140I probably damaging Het
Olfr916 T A 9: 38,658,066 I109F probably damaging Het
Pdp2 A T 8: 104,594,899 Q460L probably benign Het
Pex5l T C 3: 32,992,992 T270A probably benign Het
Pkp4 C T 2: 59,310,254 Q435* probably null Het
Prss32 G A 17: 23,856,122 V149M probably benign Het
Riox2 C A 16: 59,489,417 P378Q probably benign Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Rsph4a T A 10: 33,905,525 S124T possibly damaging Het
Sdccag8 G A 1: 176,824,755 R24H possibly damaging Het
Slc22a1 C A 17: 12,675,500 G54* probably null Het
Slc24a5 C T 2: 125,085,647 probably benign Het
Tex101 C T 7: 24,668,325 V201M probably damaging Het
Tmprss7 T C 16: 45,681,593 Y223C probably damaging Het
Trpc4ap T C 2: 155,650,468 E382G probably damaging Het
Uggt1 A T 1: 36,184,484 Y575N probably damaging Het
Vmn2r70 T C 7: 85,565,168 I259V probably damaging Het
Xpo1 T A 11: 23,277,065 N131K probably damaging Het
Zfp579 C T 7: 4,994,433 V160M probably benign Het
Zfp697 A G 3: 98,425,450 D64G probably benign Het
Zfp974 T C 7: 27,912,253 T16A possibly damaging Het
Other mutations in Fam129c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00985:Fam129c APN 8 71604863 splice site probably benign
IGL01530:Fam129c APN 8 71603917 splice site probably benign
IGL01553:Fam129c APN 8 71602902 missense possibly damaging 0.86
IGL02341:Fam129c APN 8 71603799 missense possibly damaging 0.60
IGL02541:Fam129c APN 8 71602782 missense probably benign 0.07
IGL02745:Fam129c APN 8 71605038 splice site probably null
R0006:Fam129c UTSW 8 71605044 splice site probably benign
R0391:Fam129c UTSW 8 71602499 splice site probably benign
R0594:Fam129c UTSW 8 71599135 missense probably benign 0.07
R1208:Fam129c UTSW 8 71600475 missense probably damaging 0.99
R1208:Fam129c UTSW 8 71600475 missense probably damaging 0.99
R1643:Fam129c UTSW 8 71600164 missense probably benign 0.34
R1848:Fam129c UTSW 8 71603769 missense possibly damaging 0.95
R1986:Fam129c UTSW 8 71603760 missense possibly damaging 0.63
R2319:Fam129c UTSW 8 71602764 missense probably benign 0.00
R4386:Fam129c UTSW 8 71607511 intron probably benign
R4564:Fam129c UTSW 8 71605060 intron probably benign
R4666:Fam129c UTSW 8 71603825 nonsense probably null
R6341:Fam129c UTSW 8 71600077 missense probably damaging 1.00
R6364:Fam129c UTSW 8 71599089 missense probably benign 0.08
R6888:Fam129c UTSW 8 71603739 missense probably benign
R6890:Fam129c UTSW 8 71605671 missense probably damaging 1.00
R7383:Fam129c UTSW 8 71603826 missense possibly damaging 0.86
R7441:Fam129c UTSW 8 71600164 missense probably benign 0.34
R7459:Fam129c UTSW 8 71605027 missense possibly damaging 0.75
R7527:Fam129c UTSW 8 71606698 missense probably damaging 0.99
R7873:Fam129c UTSW 8 71602248 missense probably damaging 1.00
R7956:Fam129c UTSW 8 71602248 missense probably damaging 1.00
Posted On2015-04-16