Incidental Mutation 'IGL01874:Fam129b'
ID178840
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 #IGL01874
Quality Score
Status
Chromosome2
Chromosomal Location32876114-32925254 bp(+) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) A to T at 32905767 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028135] [ENSMUST00000138781]
Predicted Effect probably null
Transcript: ENSMUST00000028135
SMART Domains Protein: ENSMUSP00000028135
Gene: ENSMUSG00000026796

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 probably null
Transcript: ENSMUST00000138781
SMART Domains Protein: ENSMUSP00000114232
Gene: ENSMUSG00000026796

DomainStartEndE-ValueType
Blast:PH 53 83 2e-15 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 A T 13: 70,768,704 V723D possibly damaging Het
Adgrb1 G A 15: 74,541,574 V536I possibly damaging Het
Aox4 T C 1: 58,252,084 L787S probably damaging Het
Atp2c1 A C 9: 105,448,825 V293G probably damaging Het
Ccnb1 T C 13: 100,783,493 D170G probably damaging Het
Cdc42 T C 4: 137,336,070 I4V probably benign Het
Clip1 T C 5: 123,603,666 Q1175R possibly damaging Het
Cox6a1 A G 5: 115,345,845 *113Q probably null Het
Crtc2 C T 3: 90,258,508 P139L probably damaging Het
Cyp8b1 A T 9: 121,915,903 M121K possibly damaging Het
D630003M21Rik C A 2: 158,204,724 G778C probably damaging Het
Dgat1 A G 15: 76,503,041 F349L probably damaging Het
Enox1 A G 14: 77,579,162 Y194C probably damaging Het
Fam120b T A 17: 15,403,039 C426* probably null Het
Fxyd3 A G 7: 31,070,893 probably benign Het
Gin1 A G 1: 97,783,072 Y160C probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm11110 T A 17: 57,092,693 probably benign Het
Gm1818 T C 12: 48,556,190 noncoding transcript Het
Gucy1a2 T C 9: 3,797,343 S598P probably damaging Het
Hook3 T A 8: 26,039,732 N199Y possibly damaging Het
Il10ra A G 9: 45,267,160 L41P probably damaging Het
Itgam C T 7: 128,115,166 T949I probably damaging Het
Kctd3 A G 1: 188,996,991 V123A probably damaging Het
Krt84 G A 15: 101,527,804 A450V probably damaging Het
Lrrc7 G A 3: 158,240,443 probably benign Het
Nckap1 A G 2: 80,525,636 F608L probably damaging Het
Nmbr A T 10: 14,766,952 Y85F probably benign Het
Nol6 A C 4: 41,115,412 L1135R probably damaging Het
Ntan1 T C 16: 13,835,213 F278L probably benign Het
Olfr138 T A 17: 38,275,517 S249T probably benign Het
Pcsk5 T A 19: 17,595,677 T474S probably damaging Het
Pex11b T A 3: 96,643,567 probably null Het
Pkhd1 G T 1: 20,103,235 A3786E probably benign Het
Prkdc T C 16: 15,734,994 I2098T possibly damaging Het
Prl2c5 T A 13: 13,190,777 S169R probably benign Het
Ptbp2 A G 3: 119,747,800 V196A probably damaging Het
Rad17 T C 13: 100,617,684 probably benign Het
Skiv2l T C 17: 34,841,209 N114D probably benign Het
Slc47a2 T A 11: 61,312,859 probably null Het
Srcin1 A T 11: 97,533,098 M684K possibly damaging Het
Sspo T A 6: 48,452,190 C298S probably damaging Het
Tenm3 G T 8: 48,236,758 Y1915* probably null Het
Tnks1bp1 A G 2: 85,058,447 T373A probably benign Het
Trp63 A C 16: 25,882,585 N470H possibly damaging Het
Ttn T C 2: 76,798,563 N12703S probably damaging Het
Ubr4 T C 4: 139,393,289 probably benign Het
Vmn2r56 T A 7: 12,715,675 Y212F probably benign 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
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
Posted On2014-05-07