Incidental Mutation 'IGL02681:Fam129b'
ID303368
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam129b
Ensembl Gene ENSMUSG00000026796
Gene Namefamily with sequence similarity 129, member B
Synonyms9130404D14Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.608) question?
Stock #IGL02681
Quality Score
Status
Chromosome2
Chromosomal Location32876114-32925254 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 32911390 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 122 (Y122C)
Ref Sequence ENSEMBL: ENSMUSP00000028135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028135] [ENSMUST00000138781]
Predicted Effect probably benign
Transcript: ENSMUST00000028135
AA Change: Y122C

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000028135
Gene: ENSMUSG00000026796
AA Change: Y122C

DomainStartEndE-ValueType
PH 69 194 1.81e-2 SMART
low complexity region 594 607 N/A INTRINSIC
low complexity region 685 700 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125347
Predicted Effect probably benign
Transcript: ENSMUST00000138781
SMART Domains Protein: ENSMUSP00000114232
Gene: ENSMUSG00000026796

DomainStartEndE-ValueType
Blast:PH 53 83 2e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154514
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcar3 C T 3: 122,512,768 probably null Het
Cyp3a59 T C 5: 146,090,746 probably benign Het
Dnah2 G A 11: 69,452,933 T2844M probably benign Het
Ehbp1l1 T C 19: 5,720,825 I241M probably damaging Het
Fancl G A 11: 26,468,722 probably null Het
Filip1l A G 16: 57,571,779 Q910R probably benign Het
Fn1 A T 1: 71,619,482 V1139E probably damaging Het
Gm4787 A G 12: 81,378,769 V205A possibly damaging Het
Gpr158 T A 2: 21,815,630 L646Q probably damaging Het
Ifna1 A G 4: 88,850,286 D67G probably benign Het
Il11ra1 T A 4: 41,768,552 M412K possibly damaging Het
Klra10 T A 6: 130,279,419 M91L probably damaging Het
Krba1 T A 6: 48,404,118 D129E probably damaging Het
Mat1a T C 14: 41,122,496 probably benign Het
Med24 T A 11: 98,709,739 K627* probably null Het
Mpl A T 4: 118,448,871 probably benign Het
Mynn T A 3: 30,616,642 D554E probably benign Het
Olfr382 T C 11: 73,516,530 Y223C probably benign Het
Prkcd T C 14: 30,601,233 probably null Het
Prrc2c T C 1: 162,705,612 probably benign Het
Scp2d1 T C 2: 144,823,884 F48L probably benign Het
Slc12a2 A G 18: 57,879,399 H198R probably benign Het
Sulf2 A G 2: 166,116,985 V101A probably benign Het
Synj2 T A 17: 5,990,336 V144E probably damaging Het
Tas2r113 T G 6: 132,893,367 F119L probably damaging Het
Tspan17 A G 13: 54,789,629 E12G probably damaging Het
Other mutations in Fam129b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00543:Fam129b APN 2 32912471 missense probably benign 0.04
IGL01072:Fam129b APN 2 32912415 unclassified probably benign
IGL01874:Fam129b APN 2 32905767 critical splice acceptor site probably null
IGL02302:Fam129b APN 2 32921123 missense probably benign
IGL03126:Fam129b APN 2 32876386 missense possibly damaging 0.95
IGL03240:Fam129b APN 2 32922097 missense probably benign 0.00
R0125:Fam129b UTSW 2 32923821 missense probably benign 0.17
R0948:Fam129b UTSW 2 32922860 missense probably damaging 1.00
R1195:Fam129b UTSW 2 32919803 missense probably benign
R1195:Fam129b UTSW 2 32919803 missense probably benign
R1195:Fam129b UTSW 2 32919803 missense probably benign
R2130:Fam129b UTSW 2 32923647 missense probably benign 0.34
R2408:Fam129b UTSW 2 32923470 missense probably damaging 1.00
R4881:Fam129b UTSW 2 32922578 nonsense probably null
R5506:Fam129b UTSW 2 32920982 missense probably damaging 0.96
R5748:Fam129b UTSW 2 32919569 missense probably damaging 1.00
R5857:Fam129b UTSW 2 32909908 missense probably benign 0.28
R6011:Fam129b UTSW 2 32922865 missense probably damaging 0.99
R6088:Fam129b UTSW 2 32923123 missense probably damaging 1.00
R6720:Fam129b UTSW 2 32905826 missense probably damaging 1.00
R6763:Fam129b UTSW 2 32911448 critical splice donor site probably null
R6769:Fam129b UTSW 2 32895654
Posted On2015-04-16