Incidental Mutation 'IGL02064:Fam189b'
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ID185562
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? Probably non essential (E-score: 0.076) question?
Stock #IGL02064
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732456N10Rik T C 15: 101,562,653 H58R possibly damaging Het
Acap2 A C 16: 31,127,328 W284G probably damaging Het
Acsf3 T C 8: 122,780,247 L93P possibly damaging Het
Agbl2 G T 2: 90,784,024 probably benign Het
Arap3 C T 18: 37,991,701 G242D probably damaging Het
Asxl3 G A 18: 22,524,344 V1804I possibly damaging Het
BC025446 A G 15: 75,221,656 probably benign Het
Bnc1 C A 7: 81,973,503 V659L probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Car9 A G 4: 43,507,363 E103G probably benign Het
Chrm4 A G 2: 91,927,831 T195A probably damaging Het
Cldn10 T C 14: 118,855,012 I8T probably damaging Het
Col12a1 G A 9: 79,692,372 S833F probably benign Het
Cryba2 T A 1: 74,890,561 D139V possibly damaging Het
Emp1 T A 6: 135,377,212 M1K probably null Het
Exosc4 C A 15: 76,329,636 A220E probably damaging Het
Fryl A G 5: 73,124,769 probably benign Het
Gm8298 T C 3: 59,877,042 L312P probably damaging Het
Grid2 C T 6: 64,063,935 T287I probably benign Het
Grifin C T 5: 140,564,739 A7T probably damaging Het
Gzmg T C 14: 56,157,341 K157E probably benign Het
Kcnq2 A T 2: 181,109,026 I340N probably damaging Het
Klrb1 T A 6: 128,710,637 H98L probably benign Het
Krtap5-2 C A 7: 142,175,731 G71C unknown Het
Krtap7-1 A T 16: 89,508,123 M47K probably benign Het
Lmntd1 T A 6: 145,427,276 probably null Het
Musk A G 4: 58,286,128 N6S possibly damaging Het
Olfr169 A G 16: 19,566,548 C112R probably damaging Het
Olfr33 A G 7: 102,713,601 F271L probably damaging Het
Olfr482 T G 7: 108,095,247 T108P probably benign Het
Olfr682-ps1 A T 7: 105,127,034 F89Y possibly damaging Het
Olfr893 T A 9: 38,209,578 I122N probably damaging Het
Pcdh19 A G X: 133,685,970 M432T probably benign Het
Prdm1 A G 10: 44,441,342 F495S probably damaging Het
Prkar2a T C 9: 108,733,204 Y211H possibly damaging Het
Ralgapa1 C A 12: 55,708,077 G1143V probably damaging Het
Rbbp7 A G X: 162,769,787 probably null Het
Scel C A 14: 103,533,326 H65Q probably damaging Het
Sec24d T C 3: 123,343,814 probably benign Het
Sfswap C A 5: 129,560,796 T839N probably benign Het
Slc15a1 G T 14: 121,462,474 P644H probably benign Het
Slc15a1 T C 14: 121,462,499 I636V possibly damaging Het
Slc6a21 T A 7: 45,286,459 I38N possibly damaging Het
Sucla2 C T 14: 73,579,473 Q218* probably null Het
Tbc1d14 A T 5: 36,507,675 L237* probably null Het
Trpm7 C T 2: 126,797,943 E1578K probably damaging Het
Ttc17 G A 2: 94,330,667 T896I probably damaging Het
Virma A G 4: 11,513,163 D339G possibly damaging Het
Vmn2r54 T A 7: 12,615,606 Y683F probably benign Het
Xrra1 T A 7: 99,914,204 L466Q 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
IGL02065:Fam189b APN 3 89188596 nonsense probably null
IGL02066: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
R7617:Fam189b UTSW 3 89184971 missense probably damaging 1.00
R7831:Fam189b UTSW 3 89184213 splice site probably null
R7867:Fam189b UTSW 3 89185776 nonsense probably null
R8099:Fam189b UTSW 3 89183943 missense probably damaging 1.00
R8201:Fam189b UTSW 3 89185808 missense probably damaging 0.99
R8314:Fam189b UTSW 3 89188146 critical splice donor site probably null
Posted On2014-05-07