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 UNC45, Cmya4, D230041A13Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02159
Quality Score
Status
Chromosome 11
Chromosomal Location 82802112-82834284 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 82831007 bp (GRCm39)
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: 100,446,527 (GRCm39) L257S probably damaging Het
Abca13 A G 11: 9,264,545 (GRCm39) S2976G probably benign Het
Afmid T C 11: 117,727,252 (GRCm39) W267R probably damaging Het
Ahi1 A G 10: 20,934,076 (GRCm39) K969R probably benign Het
Aldh1l1 A G 6: 90,571,638 (GRCm39) probably benign Het
Ank3 A G 10: 69,644,722 (GRCm39) H62R probably damaging Het
Arid2 T C 15: 96,256,793 (GRCm39) probably benign Het
Caps2 G A 10: 112,039,928 (GRCm39) V457M probably benign Het
Capza1 T C 3: 104,771,687 (GRCm39) D3G possibly damaging Het
Cav1 T A 6: 17,307,971 (GRCm39) V41E possibly damaging Het
Celf2 G T 2: 6,608,988 (GRCm39) C264* probably null Het
Clec4a2 C T 6: 123,116,285 (GRCm39) S150L probably benign Het
D7Ertd443e A T 7: 133,951,129 (GRCm39) D181E possibly damaging Het
Epyc A G 10: 97,506,493 (GRCm39) E100G probably benign Het
Hdac11 A G 6: 91,150,084 (GRCm39) I294M probably damaging Het
Hrob G A 11: 102,150,991 (GRCm39) probably null Het
Hsdl1 A G 8: 120,293,153 (GRCm39) V73A probably benign Het
Kmt2c A T 5: 25,516,341 (GRCm39) S2501T probably benign Het
Lrrc41 T A 4: 115,945,683 (GRCm39) F133I probably benign Het
Map3k19 C A 1: 127,750,907 (GRCm39) G815C probably benign Het
Muc13 C A 16: 33,619,849 (GRCm39) T199K unknown Het
Nif3l1 G T 1: 58,487,105 (GRCm39) probably null Het
Nlrp12 A T 7: 3,298,175 (GRCm39) probably benign Het
Nup205 T C 6: 35,166,113 (GRCm39) S244P probably damaging Het
Or7a37 A T 10: 78,805,735 (GRCm39) N84I probably damaging Het
Parl G A 16: 20,098,838 (GRCm39) probably benign Het
Pax8 A G 2: 24,330,800 (GRCm39) I211T possibly damaging Het
Pglyrp4 A G 3: 90,638,160 (GRCm39) E158G possibly damaging Het
Plekhm1 A G 11: 103,271,057 (GRCm39) L478P probably benign Het
Prss3b T C 6: 41,009,891 (GRCm39) T148A probably benign Het
Serpina1a C T 12: 103,820,965 (GRCm39) G338R probably damaging Het
Serpina5 T C 12: 104,071,557 (GRCm39) L388P possibly damaging Het
Sorbs1 A G 19: 40,316,040 (GRCm39) V367A probably damaging Het
Srgap2 A G 1: 131,247,404 (GRCm39) probably benign Het
Surf1 A G 2: 26,805,663 (GRCm39) L26P probably damaging Het
Taf4 A G 2: 179,580,263 (GRCm39) S486P probably benign Het
Tdrd6 A T 17: 43,939,281 (GRCm39) V589E probably damaging Het
Tuba3b T G 6: 145,565,392 (GRCm39) S287A probably benign Het
Txnrd3 G A 6: 89,646,306 (GRCm39) R295H probably damaging Het
Ubr5 G T 15: 37,991,623 (GRCm39) probably benign Het
Usp32 A G 11: 84,896,628 (GRCm39) probably null Het
Utp23 G A 15: 51,745,761 (GRCm39) R87K probably benign Het
Vps8 T C 16: 21,285,234 (GRCm39) I405T possibly damaging Het
Other mutations in Unc45b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01320:Unc45b APN 11 82,803,219 (GRCm39) critical splice acceptor site probably null
IGL01983:Unc45b APN 11 82,827,687 (GRCm39) missense probably benign
IGL02083:Unc45b APN 11 82,813,745 (GRCm39) missense probably damaging 0.96
IGL02160:Unc45b APN 11 82,831,007 (GRCm39) splice site probably benign
IGL02165:Unc45b APN 11 82,831,007 (GRCm39) splice site probably benign
IGL02166:Unc45b APN 11 82,831,007 (GRCm39) splice site probably benign
IGL02986:Unc45b APN 11 82,808,005 (GRCm39) missense probably damaging 0.98
fife UTSW 11 82,827,678 (GRCm39) missense probably benign 0.00
R0195:Unc45b UTSW 11 82,828,654 (GRCm39) missense probably damaging 1.00
R0197:Unc45b UTSW 11 82,831,031 (GRCm39) missense possibly damaging 0.78
R0218:Unc45b UTSW 11 82,802,686 (GRCm39) splice site probably benign
R0436:Unc45b UTSW 11 82,820,393 (GRCm39) splice site probably benign
R0569:Unc45b UTSW 11 82,827,638 (GRCm39) splice site probably benign
R0701:Unc45b UTSW 11 82,831,031 (GRCm39) missense possibly damaging 0.78
R0883:Unc45b UTSW 11 82,831,031 (GRCm39) missense possibly damaging 0.78
R1146:Unc45b UTSW 11 82,813,733 (GRCm39) missense probably damaging 0.99
R1146:Unc45b UTSW 11 82,813,733 (GRCm39) missense probably damaging 0.99
R1378:Unc45b UTSW 11 82,827,678 (GRCm39) missense probably benign 0.00
R1446:Unc45b UTSW 11 82,819,496 (GRCm39) missense probably damaging 1.00
R1532:Unc45b UTSW 11 82,827,700 (GRCm39) missense probably benign 0.12
R1559:Unc45b UTSW 11 82,808,672 (GRCm39) missense possibly damaging 0.66
R1582:Unc45b UTSW 11 82,816,771 (GRCm39) missense probably benign 0.30
R1628:Unc45b UTSW 11 82,820,206 (GRCm39) splice site probably null
R1666:Unc45b UTSW 11 82,808,565 (GRCm39) missense probably benign 0.31
R1677:Unc45b UTSW 11 82,802,531 (GRCm39) splice site probably null
R1759:Unc45b UTSW 11 82,820,325 (GRCm39) missense probably benign 0.33
R1909:Unc45b UTSW 11 82,816,913 (GRCm39) missense probably damaging 1.00
R2067:Unc45b UTSW 11 82,802,515 (GRCm39) missense probably benign 0.01
R2111:Unc45b UTSW 11 82,802,515 (GRCm39) missense probably benign 0.01
R2145:Unc45b UTSW 11 82,808,580 (GRCm39) missense probably benign 0.30
R2258:Unc45b UTSW 11 82,808,625 (GRCm39) missense probably benign 0.01
R2259:Unc45b UTSW 11 82,808,625 (GRCm39) missense probably benign 0.01
R2497:Unc45b UTSW 11 82,827,269 (GRCm39) missense probably damaging 1.00
R2507:Unc45b UTSW 11 82,830,963 (GRCm39) splice site probably null
R4352:Unc45b UTSW 11 82,804,035 (GRCm39) missense probably damaging 0.99
R4569:Unc45b UTSW 11 82,827,315 (GRCm39) critical splice donor site probably null
R4624:Unc45b UTSW 11 82,816,835 (GRCm39) missense probably benign 0.30
R5236:Unc45b UTSW 11 82,805,888 (GRCm39) missense possibly damaging 0.53
R5512:Unc45b UTSW 11 82,805,898 (GRCm39) missense possibly damaging 0.47
R5688:Unc45b UTSW 11 82,813,643 (GRCm39) missense possibly damaging 0.88
R6029:Unc45b UTSW 11 82,804,153 (GRCm39) missense probably damaging 1.00
R6616:Unc45b UTSW 11 82,802,645 (GRCm39) missense probably damaging 1.00
R6857:Unc45b UTSW 11 82,804,038 (GRCm39) missense probably benign 0.00
R6876:Unc45b UTSW 11 82,813,738 (GRCm39) missense probably benign 0.00
R7197:Unc45b UTSW 11 82,831,013 (GRCm39) critical splice acceptor site probably null
R7368:Unc45b UTSW 11 82,833,321 (GRCm39) missense probably benign 0.01
R7531:Unc45b UTSW 11 82,819,838 (GRCm39) missense probably damaging 1.00
R7743:Unc45b UTSW 11 82,813,726 (GRCm39) missense probably damaging 1.00
R8198:Unc45b UTSW 11 82,816,814 (GRCm39) frame shift probably null
R8214:Unc45b UTSW 11 82,824,714 (GRCm39) missense possibly damaging 0.50
R8235:Unc45b UTSW 11 82,810,681 (GRCm39) missense probably benign 0.01
R8916:Unc45b UTSW 11 82,804,038 (GRCm39) missense probably benign 0.00
R9004:Unc45b UTSW 11 82,819,515 (GRCm39) missense probably damaging 1.00
R9521:Unc45b UTSW 11 82,808,586 (GRCm39) missense probably benign 0.09
R9687:Unc45b UTSW 11 82,810,562 (GRCm39) missense probably damaging 1.00
R9757:Unc45b UTSW 11 82,810,558 (GRCm39) missense probably damaging 0.99
R9784:Unc45b UTSW 11 82,816,986 (GRCm39) missense probably damaging 1.00
T0970:Unc45b UTSW 11 82,813,714 (GRCm39) missense probably benign 0.00
Z1176:Unc45b UTSW 11 82,833,541 (GRCm39) missense probably damaging 1.00
Z1176:Unc45b UTSW 11 82,819,480 (GRCm39) critical splice acceptor site probably null
Z1177:Unc45b UTSW 11 82,833,379 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16