Incidental Mutation 'IGL00543:Fam129b'
ID7232
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? Probably non essential (E-score: 0.242) question?
Stock #IGL00543
Quality Score
Status
Chromosome2
Chromosomal Location32876114-32925254 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 32912471 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 158 (F158Y)
Ref Sequence ENSEMBL: ENSMUSP00000028135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028135] [ENSMUST00000138781]
Predicted Effect probably benign
Transcript: ENSMUST00000028135
AA Change: F158Y

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000028135
Gene: ENSMUSG00000026796
AA Change: F158Y

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530003J23Rik G T 10: 117,238,447 T45K probably benign Het
Acvr1c A G 2: 58,315,823 C42R probably damaging Het
Adamts1 T C 16: 85,795,573 H649R probably benign Het
Capn3 T C 2: 120,486,482 probably benign Het
Cd44 T C 2: 102,855,947 T135A possibly damaging Het
Cntnap5c T A 17: 58,294,350 I831N probably benign Het
Eprs G T 1: 185,407,148 C910F probably benign Het
Epx T C 11: 87,869,925 R394G probably damaging Het
Hps5 T C 7: 46,778,073 D338G probably benign Het
Ikbkg T C X: 74,432,860 V14A probably damaging Het
Lrp1b A G 2: 41,468,948 F638L possibly damaging Het
Mak A T 13: 41,055,713 Y87N probably damaging Het
Morc2a T A 11: 3,680,283 I493N probably damaging Het
Msl2 T A 9: 101,101,070 H214Q probably benign Het
Myom3 A C 4: 135,762,571 T18P possibly damaging Het
Ndst3 G T 3: 123,672,263 T20N probably damaging Het
Nelfe T A 17: 34,853,616 S124T possibly damaging Het
Nlgn1 T G 3: 25,433,781 T797P probably damaging Het
Pcdh18 T C 3: 49,753,379 D414G probably damaging Het
Pde4dip T C 3: 97,757,624 S386G possibly damaging Het
Ppig T A 2: 69,749,716 H531Q unknown Het
Ppm1n T C 7: 19,278,184 Y348C probably benign Het
Rdh9 T C 10: 127,790,984 V302A probably benign Het
Serpinb3b A G 1: 107,157,666 probably null Het
Slc39a10 A G 1: 46,819,057 probably benign Het
Other mutations in Fam129b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02681:Fam129b APN 2 32911390 missense probably benign 0.05
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
R7296:Fam129b UTSW 2 32922642 missense possibly damaging 0.74
R7769:Fam129b UTSW 2 32919832 missense possibly damaging 0.93
R7888:Fam129b UTSW 2 32922125 nonsense probably null
R8282:Fam129b UTSW 2 32919017 missense probably benign 0.02
R8685:Fam129b UTSW 2 32919089 missense probably benign 0.03
R8729:Fam129b UTSW 2 32909934 missense probably damaging 1.00
R8878:Fam129b UTSW 2 32921093 missense probably benign 0.00
Posted On2012-04-20