Incidental Mutation 'R8235:Unc45b'
ID 637320
Institutional Source Beutler Lab
Gene Symbol Unc45b
Ensembl Gene ENSMUSG00000018845
Gene Name unc-45 myosin chaperone B
Synonyms UNC45, Cmya4, D230041A13Rik
MMRRC Submission 067667-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8235 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 82802112-82834284 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82810681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 314 (I314V)
Ref Sequence ENSEMBL: ENSMUSP00000018989 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018989] [ENSMUST00000108160] [ENSMUST00000164945]
AlphaFold Q8CGY6
Predicted Effect probably benign
Transcript: ENSMUST00000018989
AA Change: I314V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000018989
Gene: ENSMUSG00000018845
AA Change: I314V

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
AA Change: I314V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000103795
Gene: ENSMUSG00000018845
AA Change: I314V

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 benign
Transcript: ENSMUST00000164945
AA Change: I314V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000129405
Gene: ENSMUSG00000018845
AA Change: I314V

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: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 98.8%
Validation Efficiency 98% (44/45)
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
Abca13 A C 11: 9,212,077 (GRCm39) Q279H probably damaging Het
Abhd13 G A 8: 10,037,394 (GRCm39) probably benign Het
Atp8b3 T C 10: 80,365,650 (GRCm39) N368S probably damaging Het
Bptf A G 11: 106,967,458 (GRCm39) M1089T probably benign Het
Cbll1 C T 12: 31,541,570 (GRCm39) D103N probably benign Het
Ccnd2 T C 6: 127,107,305 (GRCm39) D288G probably benign Het
Chek1 T A 9: 36,630,870 (GRCm39) R181S probably benign Het
Chrna7 T C 7: 62,861,972 (GRCm39) R27G probably damaging Het
Crybb1 A G 5: 112,405,266 (GRCm39) K6R probably damaging Het
Ehbp1 G A 11: 22,189,153 (GRCm39) T83M probably damaging Het
Entpd7 G A 19: 43,705,984 (GRCm39) E269K probably damaging Het
Eps8 A G 6: 137,460,576 (GRCm39) V729A possibly damaging Het
Farsa A G 8: 85,595,545 (GRCm39) H480R probably damaging Het
Gm10110 C T 14: 90,135,677 (GRCm39) V76M noncoding transcript Het
Hpn T C 7: 30,802,208 (GRCm39) T228A possibly damaging Het
Lyst T A 13: 13,935,323 (GRCm39) H3597Q possibly damaging Het
Map3k4 A T 17: 12,458,968 (GRCm39) probably null Het
Msto1 A T 3: 88,820,228 (GRCm39) L89Q probably damaging Het
Mycbp2 T C 14: 103,436,110 (GRCm39) E2185G probably damaging Het
Myh2 A G 11: 67,083,824 (GRCm39) E1534G probably damaging Het
Nfkbia T C 12: 55,537,608 (GRCm39) Y195C probably damaging Het
Npr2 T A 4: 43,641,603 (GRCm39) M469K probably benign Het
Nwd1 TCATCC TCATCCATCC 8: 73,438,314 (GRCm39) probably null Het
Or8i2 T C 2: 86,852,226 (GRCm39) I221V probably benign Het
Potefam3e C A 8: 19,799,476 (GRCm39) T308N probably benign Het
Prdm2 G A 4: 142,859,037 (GRCm39) Q1418* probably null Het
Ptk2 T C 15: 73,215,140 (GRCm39) T13A probably benign Het
Ptprk T A 10: 28,465,037 (GRCm39) N1292K possibly damaging Het
Ptprq A C 10: 107,418,402 (GRCm39) V1658G probably damaging Het
Ptprq A T 10: 107,541,351 (GRCm39) F392I probably benign Het
Rbm46 C T 3: 82,772,775 (GRCm39) R119Q probably benign Het
Rsf1 T C 7: 97,325,461 (GRCm39) probably benign Het
Samd4b C T 7: 28,106,031 (GRCm39) V396I probably benign Het
Spta1 T A 1: 174,029,952 (GRCm39) L906Q probably damaging Het
Sytl1 T C 4: 132,988,257 (GRCm39) D33G probably damaging Het
Trmt10c T C 16: 55,854,939 (GRCm39) N232S probably benign Het
Trpc4 G A 3: 54,209,669 (GRCm39) C678Y probably benign Het
Tulp3 T C 6: 128,304,640 (GRCm39) N205D probably benign Het
Ufl1 T C 4: 25,278,656 (GRCm39) I100V probably benign Het
Vegfa A T 17: 46,342,236 (GRCm39) L194Q possibly damaging Het
Vps13c T C 9: 67,834,678 (GRCm39) F1669S probably damaging Het
Vps13c T A 9: 67,863,063 (GRCm39) H3026Q probably benign Het
Zfp184 T G 13: 22,144,053 (GRCm39) I586M 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
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
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'- AGTTCCTCGAGACATTTCTGCC -3'
(R):5'- ACCTACCAGCTTCAGGAGAC -3'

Sequencing Primer
(F):5'- GAGACATTTCTGCCATTCTTGATC -3'
(R):5'- TGGGGAATCCTACTACACAAATG -3'
Posted On 2020-07-13