Incidental Mutation 'IGL02066:Fam189b'
ID185662
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam189b
Ensembl Gene ENSMUSG00000032657
Gene Namefamily with sequence similarity 189, member B
Synonyms1110013L07Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.291) question?
Stock #IGL02066
Quality Score
Status
Chromosome3
Chromosomal Location89183143-89189295 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 89188596 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 545 (R545*)
Ref Sequence ENSEMBL: ENSMUSP00000113579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041913] [ENSMUST00000117278] [ENSMUST00000119707] [ENSMUST00000127982] [ENSMUST00000140473] [ENSMUST00000147696]
Predicted Effect probably null
Transcript: ENSMUST00000041913
AA Change: R623*
SMART Domains Protein: ENSMUSP00000039261
Gene: ENSMUSG00000032657
AA Change: R623*

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:CD20 36 196 8e-36 PFAM
low complexity region 243 254 N/A INTRINSIC
low complexity region 390 408 N/A INTRINSIC
low complexity region 445 463 N/A INTRINSIC
low complexity region 471 490 N/A INTRINSIC
low complexity region 628 649 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000117278
AA Change: R604*
SMART Domains Protein: ENSMUSP00000113706
Gene: ENSMUSG00000032657
AA Change: R604*

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
transmembrane domain 34 56 N/A INTRINSIC
Pfam:CD20 74 177 7.3e-13 PFAM
low complexity region 224 235 N/A INTRINSIC
low complexity region 371 389 N/A INTRINSIC
low complexity region 426 444 N/A INTRINSIC
low complexity region 452 471 N/A INTRINSIC
low complexity region 609 630 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000119707
AA Change: R545*
SMART Domains Protein: ENSMUSP00000113579
Gene: ENSMUSG00000032657
AA Change: R545*

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:CD20 36 196 1.9e-18 PFAM
low complexity region 312 330 N/A INTRINSIC
low complexity region 367 385 N/A INTRINSIC
low complexity region 393 412 N/A INTRINSIC
low complexity region 550 571 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125501
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126115
Predicted Effect probably benign
Transcript: ENSMUST00000127982
SMART Domains Protein: ENSMUSP00000114855
Gene: ENSMUSG00000032657

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:CD20 36 77 6.7e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136209
Predicted Effect probably benign
Transcript: ENSMUST00000140473
Predicted Effect probably benign
Transcript: ENSMUST00000147696
SMART Domains Protein: ENSMUSP00000117185
Gene: ENSMUSG00000032657

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:CD20 36 196 1.9e-30 PFAM
low complexity region 242 253 N/A INTRINSIC
low complexity region 324 349 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155033
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is located near the gene for the lysosomal enzyme glucosylceramidase; a deficiency in this enzyme is associated with Gaucher disease. The encoded protein has been identified as a potential binding partner of a WW domain-containing protein which is involved in apoptosis and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik G A 11: 78,273,232 R1133H probably damaging Het
A2m T A 6: 121,649,895 C569S probably damaging Het
Adck5 T C 15: 76,595,206 V487A probably damaging Het
Agfg1 A G 1: 82,893,558 T483A probably damaging Het
Akr1c12 T C 13: 4,276,237 T82A probably damaging Het
Ano2 T A 6: 125,690,739 L6Q probably benign Het
Anp32a G A 9: 62,377,333 probably benign Het
Cep250 C A 2: 155,976,521 A871D probably damaging Het
Chl1 T C 6: 103,698,224 V624A probably benign Het
Clasp1 G A 1: 118,565,260 probably null Het
Clca3a2 T G 3: 144,813,455 D320A probably benign Het
Cnot9 A G 1: 74,527,053 Q201R possibly damaging Het
Cox4i2 C T 2: 152,760,682 R99C probably damaging Het
Csmd1 A T 8: 15,926,594 F2875I probably damaging Het
Dpagt1 A G 9: 44,331,906 Y246C probably damaging Het
Dsc1 A G 18: 20,108,803 probably benign Het
Eef1d G A 15: 75,896,855 T464I probably benign Het
Efna2 C T 10: 80,188,666 probably benign Het
Etaa1 C A 11: 17,946,687 V477L probably benign Het
Fam83d C T 2: 158,785,873 T494M probably benign Het
Fbxo24 C T 5: 137,612,870 V553M probably damaging Het
Gal3st2 A G 1: 93,873,657 T12A probably damaging Het
Gba2 G A 4: 43,570,175 T373I probably benign Het
Kitl T A 10: 100,076,882 C154S probably damaging Het
Lrp1b A T 2: 41,111,079 C2044* probably null Het
Lrp6 G T 6: 134,450,937 S1564* probably null Het
Manea A T 4: 26,340,965 probably benign Het
Myt1 T C 2: 181,797,189 L168P probably damaging Het
Notch1 T C 2: 26,460,396 E2244G possibly damaging Het
Nsd3 T G 8: 25,713,488 V1343G probably damaging Het
Nup155 T C 15: 8,157,766 probably benign Het
Obox6 T C 7: 15,834,703 I83V probably benign Het
Olfr358 A T 2: 37,005,309 F102I probably damaging Het
Olfr538 A T 7: 140,574,500 T116S possibly damaging Het
Pdgfra T C 5: 75,170,580 V282A possibly damaging Het
Pkd1l2 A G 8: 117,009,564 probably benign Het
Pmfbp1 A T 8: 109,541,733 I971F possibly damaging Het
Ppp6c T C 2: 39,199,671 T199A probably benign Het
Ptpa A G 2: 30,443,296 T3A possibly damaging Het
Rb1 A T 14: 73,198,534 M897K probably benign Het
Rptn A C 3: 93,397,129 S590R probably benign Het
Rreb1 A G 13: 37,931,506 D947G probably benign Het
Samd9l T C 6: 3,376,575 T229A probably damaging Het
Slc5a9 A T 4: 111,887,522 M423K probably damaging Het
Slc6a12 T A 6: 121,352,056 I111N probably damaging Het
Slc6a15 T A 10: 103,416,658 L561I probably damaging Het
Spag5 A G 11: 78,304,532 N222D probably benign Het
Spp2 G A 1: 88,417,243 M54I probably benign Het
Sptbn4 T C 7: 27,364,515 E847G possibly damaging Het
Timd2 T A 11: 46,678,223 N203Y probably damaging Het
Togaram1 G T 12: 64,983,421 D1000Y probably damaging Het
Usp47 C T 7: 112,064,397 R258C probably damaging Het
Uts2r A C 11: 121,160,697 D129A probably damaging Het
Vmn2r102 G A 17: 19,693,929 M585I probably benign Het
Vmn2r77 A T 7: 86,803,628 R518* probably null Het
Wdfy4 C T 14: 33,149,566 R296K probably benign Het
Xirp2 A T 2: 67,526,071 K3725N probably benign Het
Xntrpc T C 7: 102,077,829 S142P probably benign Het
Zfat T C 15: 68,180,829 H372R probably damaging Het
Other mutations in Fam189b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01382:Fam189b APN 3 89188426 missense probably damaging 1.00
IGL01554:Fam189b APN 3 89185581 missense probably damaging 1.00
IGL02061:Fam189b APN 3 89188596 nonsense probably null
IGL02064:Fam189b APN 3 89188596 nonsense probably null
IGL02065:Fam189b APN 3 89188596 nonsense probably null
IGL02067:Fam189b APN 3 89188596 nonsense probably null
IGL02068:Fam189b APN 3 89188596 nonsense probably null
IGL02890:Fam189b APN 3 89186782 missense possibly damaging 0.66
R1219:Fam189b UTSW 3 89183848 missense probably damaging 0.99
R1634:Fam189b UTSW 3 89188094 missense probably damaging 1.00
R1645:Fam189b UTSW 3 89186847 missense possibly damaging 0.65
R2043:Fam189b UTSW 3 89185567 missense probably damaging 1.00
R4176:Fam189b UTSW 3 89184447 missense probably damaging 1.00
R4379:Fam189b UTSW 3 89185757 missense probably damaging 1.00
R5972:Fam189b UTSW 3 89185808 missense probably damaging 1.00
Posted On2014-05-07