Incidental Mutation 'R7197:Unc45b'
ID 560030
Institutional Source Beutler Lab
Gene Symbol Unc45b
Ensembl Gene ENSMUSG00000018845
Gene Name unc-45 myosin chaperone B
Synonyms UNC45, Cmya4, D230041A13Rik
MMRRC Submission 045276-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7197 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 82802112-82834284 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 82831013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000018989 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018989] [ENSMUST00000018989] [ENSMUST00000108160] [ENSMUST00000108160] [ENSMUST00000164945] [ENSMUST00000164945]
AlphaFold Q8CGY6
Predicted Effect probably null
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 null
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 null
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 probably null
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 probably null
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
Predicted Effect probably null
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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (77/79)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik AGCTTCCCTGCTT AGCTT 9: 57,165,505 (GRCm39) probably null Het
Aars2 T C 17: 45,819,885 (GRCm39) Y221H probably damaging Het
Abca8b G A 11: 109,836,648 (GRCm39) R1216* probably null Het
Acad8 A T 9: 26,888,967 (GRCm39) probably null Het
Acer2 A G 4: 86,805,287 (GRCm39) T84A probably null Het
Adgrb2 A G 4: 129,903,315 (GRCm39) N613S probably damaging Het
Arap2 T C 5: 62,798,729 (GRCm39) D1300G possibly damaging Het
Castor1 T C 11: 4,168,949 (GRCm39) C39R probably damaging Het
Ccl11 A T 11: 81,948,665 (GRCm39) probably benign Het
Cfh A T 1: 140,016,505 (GRCm39) Y1151* probably null Het
Cobll1 A G 2: 64,928,882 (GRCm39) S815P probably benign Het
Cryz T C 3: 154,327,205 (GRCm39) S240P probably damaging Het
Csmd2 A G 4: 128,404,826 (GRCm39) Y2404C Het
F13a1 T C 13: 37,100,860 (GRCm39) D428G probably damaging Het
Fbxo42 A G 4: 140,927,396 (GRCm39) S559G probably benign Het
Fry A G 5: 150,393,232 (GRCm39) S263G Het
Fshr C T 17: 89,292,897 (GRCm39) A594T probably damaging Het
Gm1527 A G 3: 28,980,690 (GRCm39) M597V probably null Het
Gpr158 A T 2: 21,815,412 (GRCm39) T602S probably damaging Het
Hmgxb4 C A 8: 75,756,624 (GRCm39) T583K probably damaging Het
Igkv8-30 C T 6: 70,094,069 (GRCm39) C114Y probably damaging Het
Igsf5 T A 16: 96,204,546 (GRCm39) N366K probably damaging Het
Kif15 T C 9: 122,838,991 (GRCm39) probably null Het
Klk1b26 T A 7: 43,665,821 (GRCm39) probably null Het
Lama1 G T 17: 68,044,700 (GRCm39) E200* probably null Het
Lpar5 C T 6: 125,059,347 (GRCm39) T356I probably benign Het
Lrch3 A T 16: 32,810,665 (GRCm39) T538S probably damaging Het
Mansc4 A G 6: 146,977,203 (GRCm39) S138P probably damaging Het
Mief1 T C 15: 80,134,061 (GRCm39) S373P possibly damaging Het
Nbas G T 12: 13,570,751 (GRCm39) V2053F possibly damaging Het
Nek11 T C 9: 105,121,614 (GRCm39) E435G probably damaging Het
Nynrin A T 14: 56,109,380 (GRCm39) I1496F probably benign Het
Odf1 A T 15: 38,219,794 (GRCm39) M41L probably benign Het
Or10a5 A G 7: 106,635,364 (GRCm39) M8V probably benign Het
Or4c115 A G 2: 88,927,626 (GRCm39) V215A probably benign Het
Or4c29 A T 2: 88,740,708 (GRCm39) F10I probably benign Het
Or7h8 T G 9: 20,123,851 (GRCm39) S69A probably benign Het
Oxnad1 T C 14: 31,818,473 (GRCm39) V106A possibly damaging Het
Padi4 C A 4: 140,488,969 (GRCm39) E157* probably null Het
Parp10 A T 15: 76,126,616 (GRCm39) F217L probably damaging Het
Pcdhb18 T A 18: 37,623,436 (GRCm39) S255R probably benign Het
Pde4c G T 8: 71,197,978 (GRCm39) G102W probably damaging Het
Pde6a T C 18: 61,391,295 (GRCm39) Y547H probably damaging Het
Phf11b A T 14: 59,563,507 (GRCm39) L137I probably benign Het
Pigh A C 12: 79,130,463 (GRCm39) I134S probably damaging Het
Pigt G A 2: 164,344,436 (GRCm39) V362M probably damaging Het
Pld1 A G 3: 28,078,401 (GRCm39) D20G probably damaging Het
Pou3f2 T C 4: 22,487,288 (GRCm39) R282G probably damaging Het
Ppp2r5d A G 17: 46,996,527 (GRCm39) V382A probably damaging Het
Prdm16 T C 4: 154,425,967 (GRCm39) E606G probably damaging Het
Psg28 A G 7: 18,164,509 (GRCm39) Y68H probably damaging Het
Qpctl C A 7: 18,882,944 (GRCm39) W56L probably damaging Het
Rab11fip5 G A 6: 85,319,137 (GRCm39) P584L probably damaging Het
Sde2 C T 1: 180,678,843 (GRCm39) H36Y probably benign Het
Sema4d T C 13: 51,856,872 (GRCm39) S787G probably benign Het
Sgca C T 11: 94,864,014 (GRCm39) probably null Het
Shroom3 A G 5: 93,090,463 (GRCm39) E1071G probably damaging Het
Skint5 A G 4: 113,437,679 (GRCm39) probably null Het
Slc44a3 T A 3: 121,319,411 (GRCm39) D110V probably benign Het
Slc4a4 A C 5: 89,082,433 (GRCm39) probably benign Het
Slc4a8 A G 15: 100,688,857 (GRCm39) D389G probably damaging Het
Sp3 C G 2: 72,809,953 (GRCm39) E11Q probably benign Het
Srrm2 A G 17: 24,037,198 (GRCm39) S1281G unknown Het
Tat A T 8: 110,723,459 (GRCm39) I316F probably benign Het
Thoc5 A G 11: 4,865,563 (GRCm39) T381A probably benign Het
Tiam1 T C 16: 89,681,826 (GRCm39) Y384C probably damaging Het
Tmem45a A T 16: 56,632,026 (GRCm39) F197L probably damaging Het
Trav8d-1 A G 14: 53,016,435 (GRCm39) Y107C probably damaging Het
Trim10 T A 17: 37,187,846 (GRCm39) V354D probably damaging Het
Unc79 A G 12: 103,078,765 (GRCm39) I1643M probably benign Het
Unc80 G T 1: 66,560,725 (GRCm39) G818* probably null Het
Usp15 A T 10: 122,966,910 (GRCm39) M470K possibly damaging Het
Vldlr T C 19: 27,212,241 (GRCm39) V85A probably benign Het
Vma21-ps A G 4: 52,496,994 (GRCm39) V84A probably benign Het
Vmn2r67 C T 7: 84,785,774 (GRCm39) V744I possibly damaging Het
Wdr73 A G 7: 80,542,946 (GRCm39) C221R probably benign Het
Zxdc C T 6: 90,355,819 (GRCm39) H443Y probably 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
IGL02159:Unc45b APN 11 82,831,007 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- AGGAGTTATACCTGCTTCACG -3'
(R):5'- AAGTTTGCTCTGCTATCCAACC -3'

Sequencing Primer
(F):5'- TGCTTCACGCAGGCAATCAG -3'
(R):5'- TGCTATCCAACCTGTTATGAGAC -3'
Posted On 2019-06-26