Incidental Mutation 'IGL02159:Unc45b'
ID 282389
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Unc45b
Ensembl Gene ENSMUSG00000018845
Gene Name unc-45 myosin chaperone B
Synonyms Cmya4, D230041A13Rik, UNC45
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02159
Quality Score
Status
Chromosome 11
Chromosomal Location 82910550-82943403 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 82940181 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018989] [ENSMUST00000108160] [ENSMUST00000164945]
AlphaFold Q8CGY6
Predicted Effect probably benign
Transcript: ENSMUST00000018989
SMART Domains Protein: ENSMUSP00000018989
Gene: ENSMUSG00000018845

DomainStartEndE-ValueType
TPR 6 39 1.02e1 SMART
TPR 43 76 7.47e0 SMART
TPR 77 110 2.52e-1 SMART
Blast:ARM 167 208 3e-16 BLAST
Blast:ARM 210 250 1e-10 BLAST
Pfam:UNC45-central 298 489 1.7e-41 PFAM
Blast:ARM 541 582 7e-7 BLAST
Blast:ARM 661 701 2e-14 BLAST
Blast:ARM 704 746 5e-11 BLAST
Blast:ARM 747 788 1e-20 BLAST
Blast:ARM 789 820 1e-11 BLAST
low complexity region 821 832 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108160
SMART Domains Protein: ENSMUSP00000103795
Gene: ENSMUSG00000018845

DomainStartEndE-ValueType
TPR 6 39 1.02e1 SMART
TPR 43 76 7.47e0 SMART
TPR 77 110 2.52e-1 SMART
Blast:ARM 167 208 3e-16 BLAST
Blast:ARM 210 250 1e-10 BLAST
Pfam:UNC45-central 271 489 2.2e-52 PFAM
Blast:ARM 663 703 2e-14 BLAST
Blast:ARM 706 748 5e-11 BLAST
Blast:ARM 749 790 1e-20 BLAST
Blast:ARM 791 822 1e-11 BLAST
low complexity region 823 834 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127074
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142336
Predicted Effect probably benign
Transcript: ENSMUST00000164945
SMART Domains Protein: ENSMUSP00000129405
Gene: ENSMUSG00000018845

DomainStartEndE-ValueType
TPR 6 39 1.02e1 SMART
TPR 43 76 7.47e0 SMART
TPR 77 110 2.52e-1 SMART
Blast:ARM 167 208 3e-16 BLAST
Blast:ARM 210 250 1e-10 BLAST
Pfam:UNC45-central 298 489 1.7e-41 PFAM
Blast:ARM 663 703 2e-14 BLAST
Blast:ARM 706 748 5e-11 BLAST
Blast:ARM 749 790 1e-20 BLAST
Blast:ARM 791 822 1e-11 BLAST
low complexity region 823 834 N/A INTRINSIC
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 encodes a co-chaperone required for folding and accumulation of type II myosins. The protein consists of three tetratricopeptide repeat motifs at the N-terminus that form a complex with heat shock protein 90, a central region of unknown function that is conserved in all Unc-45 proteins, and a C-terminal Unc-45/Cro1/She4 domain. The protein is expressed at high levels in striated muscle, where its muscle myosin chaperone activity is dependent on heat shock protein 90 acting as a co-chaperone. A missense mutation in this gene has been associated with cataract development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E9 without placental abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,610,665 L257S probably damaging Het
2210010C04Rik T C 6: 41,032,957 T148A probably benign Het
Abca13 A G 11: 9,314,545 S2976G probably benign Het
Afmid T C 11: 117,836,426 W267R probably damaging Het
Ahi1 A G 10: 21,058,177 K969R probably benign Het
Aldh1l1 A G 6: 90,594,656 probably benign Het
Ank3 A G 10: 69,808,892 H62R probably damaging Het
Arid2 T C 15: 96,358,912 probably benign Het
BC030867 G A 11: 102,260,165 probably null Het
Caps2 G A 10: 112,204,023 V457M probably benign Het
Capza1 T C 3: 104,864,371 D3G possibly damaging Het
Cav1 T A 6: 17,307,972 V41E possibly damaging Het
Celf2 G T 2: 6,604,177 C264* probably null Het
Clec4a2 C T 6: 123,139,326 S150L probably benign Het
D7Ertd443e A T 7: 134,349,400 D181E possibly damaging Het
Epyc A G 10: 97,670,631 E100G probably benign Het
Hdac11 A G 6: 91,173,102 I294M probably damaging Het
Hsdl1 A G 8: 119,566,414 V73A probably benign Het
Kmt2c A T 5: 25,311,343 S2501T probably benign Het
Lrrc41 T A 4: 116,088,486 F133I probably benign Het
Map3k19 C A 1: 127,823,170 G815C probably benign Het
Muc13 C A 16: 33,799,479 T199K unknown Het
Nif3l1 G T 1: 58,447,946 probably null Het
Nlrp12 A T 7: 3,249,545 probably benign Het
Nup205 T C 6: 35,189,178 S244P probably damaging Het
Olfr1353 A T 10: 78,969,901 N84I probably damaging Het
Parl G A 16: 20,280,088 probably benign Het
Pax8 A G 2: 24,440,788 I211T possibly damaging Het
Pglyrp4 A G 3: 90,730,853 E158G possibly damaging Het
Plekhm1 A G 11: 103,380,231 L478P probably benign Het
Serpina1a C T 12: 103,854,706 G338R probably damaging Het
Serpina5 T C 12: 104,105,298 L388P possibly damaging Het
Sorbs1 A G 19: 40,327,596 V367A probably damaging Het
Srgap2 A G 1: 131,319,666 probably benign Het
Surf1 A G 2: 26,915,651 L26P probably damaging Het
Taf4 A G 2: 179,938,470 S486P probably benign Het
Tdrd6 A T 17: 43,628,390 V589E probably damaging Het
Tuba3b T G 6: 145,619,666 S287A probably benign Het
Txnrd3 G A 6: 89,669,324 R295H probably damaging Het
Ubr5 G T 15: 37,991,379 probably benign Het
Usp32 A G 11: 85,005,802 probably null Het
Utp23 G A 15: 51,882,365 R87K probably benign Het
Vps8 T C 16: 21,466,484 I405T possibly damaging Het
Other mutations in Unc45b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01320:Unc45b APN 11 82912393 critical splice acceptor site probably null
IGL01983:Unc45b APN 11 82936861 missense probably benign
IGL02083:Unc45b APN 11 82922919 missense probably damaging 0.96
IGL02160:Unc45b APN 11 82940181 splice site probably benign
IGL02165:Unc45b APN 11 82940181 splice site probably benign
IGL02166:Unc45b APN 11 82940181 splice site probably benign
IGL02986:Unc45b APN 11 82917179 missense probably damaging 0.98
fife UTSW 11 82936852 missense probably benign 0.00
R0195:Unc45b UTSW 11 82937828 missense probably damaging 1.00
R0197:Unc45b UTSW 11 82940205 missense possibly damaging 0.78
R0218:Unc45b UTSW 11 82911860 splice site probably benign
R0436:Unc45b UTSW 11 82929567 splice site probably benign
R0569:Unc45b UTSW 11 82936812 splice site probably benign
R0701:Unc45b UTSW 11 82940205 missense possibly damaging 0.78
R0883:Unc45b UTSW 11 82940205 missense possibly damaging 0.78
R1146:Unc45b UTSW 11 82922907 missense probably damaging 0.99
R1146:Unc45b UTSW 11 82922907 missense probably damaging 0.99
R1378:Unc45b UTSW 11 82936852 missense probably benign 0.00
R1446:Unc45b UTSW 11 82928670 missense probably damaging 1.00
R1532:Unc45b UTSW 11 82936874 missense probably benign 0.12
R1559:Unc45b UTSW 11 82917846 missense possibly damaging 0.66
R1582:Unc45b UTSW 11 82925945 missense probably benign 0.30
R1628:Unc45b UTSW 11 82929380 splice site probably null
R1666:Unc45b UTSW 11 82917739 missense probably benign 0.31
R1677:Unc45b UTSW 11 82911705 splice site probably null
R1759:Unc45b UTSW 11 82929499 missense probably benign 0.33
R1909:Unc45b UTSW 11 82926087 missense probably damaging 1.00
R2067:Unc45b UTSW 11 82911689 missense probably benign 0.01
R2111:Unc45b UTSW 11 82911689 missense probably benign 0.01
R2145:Unc45b UTSW 11 82917754 missense probably benign 0.30
R2258:Unc45b UTSW 11 82917799 missense probably benign 0.01
R2259:Unc45b UTSW 11 82917799 missense probably benign 0.01
R2497:Unc45b UTSW 11 82936443 missense probably damaging 1.00
R2507:Unc45b UTSW 11 82940137 splice site probably null
R4352:Unc45b UTSW 11 82913209 missense probably damaging 0.99
R4569:Unc45b UTSW 11 82936489 critical splice donor site probably null
R4624:Unc45b UTSW 11 82926009 missense probably benign 0.30
R5236:Unc45b UTSW 11 82915062 missense possibly damaging 0.53
R5512:Unc45b UTSW 11 82915072 missense possibly damaging 0.47
R5688:Unc45b UTSW 11 82922817 missense possibly damaging 0.88
R6029:Unc45b UTSW 11 82913327 missense probably damaging 1.00
R6616:Unc45b UTSW 11 82911819 missense probably damaging 1.00
R6857:Unc45b UTSW 11 82913212 missense probably benign 0.00
R6876:Unc45b UTSW 11 82922912 missense probably benign 0.00
R7197:Unc45b UTSW 11 82940187 critical splice acceptor site probably null
R7368:Unc45b UTSW 11 82942495 missense probably benign 0.01
R7531:Unc45b UTSW 11 82929012 missense probably damaging 1.00
R7743:Unc45b UTSW 11 82922900 missense probably damaging 1.00
R8198:Unc45b UTSW 11 82925988 frame shift probably null
R8214:Unc45b UTSW 11 82933888 missense possibly damaging 0.50
R8235:Unc45b UTSW 11 82919855 missense probably benign 0.01
R8916:Unc45b UTSW 11 82913212 missense probably benign 0.00
R9004:Unc45b UTSW 11 82928689 missense probably damaging 1.00
R9521:Unc45b UTSW 11 82917760 missense probably benign 0.09
R9687:Unc45b UTSW 11 82919736 missense probably damaging 1.00
R9757:Unc45b UTSW 11 82919732 missense probably damaging 0.99
R9784:Unc45b UTSW 11 82926160 missense probably damaging 1.00
T0970:Unc45b UTSW 11 82922888 missense probably benign 0.00
Z1176:Unc45b UTSW 11 82928654 critical splice acceptor site probably null
Z1176:Unc45b UTSW 11 82942715 missense probably damaging 1.00
Z1177:Unc45b UTSW 11 82942553 missense probably damaging 1.00
Posted On 2015-04-16