Incidental Mutation 'IGL00323:Fam58b'
ID10666
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam58b
Ensembl Gene ENSMUSG00000049489
Gene Namefamily with sequence similarity 58, member B
Synonymscyclin M, 1810009O10Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00323
Quality Score
Status
Chromosome11
Chromosomal Location78750506-78751729 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 78750956 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 236 (V236A)
Ref Sequence ENSEMBL: ENSMUSP00000050658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059468]
Predicted Effect probably benign
Transcript: ENSMUST00000059468
AA Change: V236A

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000050658
Gene: ENSMUSG00000049489
AA Change: V236A

DomainStartEndE-ValueType
low complexity region 13 27 N/A INTRINSIC
CYCLIN 34 132 8.61e-10 SMART
SCOP:d1jkw_2 142 244 2e-29 SMART
Blast:CYCLIN 152 241 9e-39 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116950
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mutations in this gene have been shown to cause an X-linked dominant STAR syndrome that typically manifests syndactyly, telecanthus and anogenital and renal malformations. The protein encoded by this gene contains a cyclin-box-fold domain which suggests it may have a role in controlling nuclear cell division cycles. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5m1 T C 14: 49,073,790 Y106H probably damaging Het
Atrnl1 C A 19: 57,691,817 N716K probably benign Het
Cdk13 A T 13: 17,721,098 N1075K possibly damaging Het
Daam1 G A 12: 71,958,743 probably benign Het
Exd2 T C 12: 80,476,166 V133A probably damaging Het
Glrb T C 3: 80,861,955 D155G probably damaging Het
Gm13941 T A 2: 111,104,853 M11L unknown Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Inpp5d G T 1: 87,683,815 V329F probably benign Het
Lilr4b A T 10: 51,481,251 D61V probably benign Het
Malt1 T A 18: 65,448,963 C299* probably null Het
Olfr1306 A T 2: 111,912,036 M298K possibly damaging Het
Olfr1408 G A 1: 173,130,411 Q269* probably null Het
Pigk C A 3: 152,747,632 S282* probably null Het
Pik3r1 T A 13: 101,690,536 M1L probably benign Het
Pnpla1 A G 17: 28,877,442 Y165C probably damaging Het
Rfx7 A G 9: 72,617,420 N631D probably damaging Het
Rp1 T A 1: 4,346,746 D1381V probably damaging Het
Rrp8 T C 7: 105,733,016 probably benign Het
Scn4a A T 11: 106,319,919 D1757E probably benign Het
Sec62 T C 3: 30,810,442 probably benign Het
Smarca5 G A 8: 80,714,041 T598M probably benign Het
Sptbn5 T C 2: 120,054,467 probably benign Het
Srcap T C 7: 127,542,713 probably benign Het
Stab1 T A 14: 31,139,306 E71D probably benign Het
Trhde A T 10: 114,486,747 S716R possibly damaging Het
Ttn T C 2: 76,896,515 probably benign Het
Wscd2 A C 5: 113,551,175 T81P possibly damaging Het
Zfp335 G A 2: 164,892,382 T1295I probably damaging Het
Other mutations in Fam58b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1692:Fam58b UTSW 11 78751331 missense probably benign 0.39
R3855:Fam58b UTSW 11 78751187 missense probably benign 0.19
R3955:Fam58b UTSW 11 78751023 nonsense probably null
R3956:Fam58b UTSW 11 78751023 nonsense probably null
R5451:Fam58b UTSW 11 78751289 missense possibly damaging 0.90
R6276:Fam58b UTSW 11 78751230 missense probably damaging 1.00
R6751:Fam58b UTSW 11 78751124 missense probably damaging 1.00
Posted On2012-12-06