Incidental Mutation 'R2507:Unc45b'
ID 266158
Institutional Source Beutler Lab
Gene Symbol Unc45b
Ensembl Gene ENSMUSG00000018845
Gene Name unc-45 myosin chaperone B
Synonyms UNC45, Cmya4, D230041A13Rik
MMRRC Submission 040413-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2507 (G1)
Quality Score 189
Status Not validated
Chromosome 11
Chromosomal Location 82802112-82834284 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 82830963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129405 (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 noncoding transcript
Transcript: ENSMUST00000127074
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142336
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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik A G 10: 21,497,681 (GRCm39) probably benign Het
4930535I16Rik G A 4: 123,811,740 (GRCm39) probably benign Het
Akr1b1 C T 6: 34,286,999 (GRCm39) E186K probably damaging Het
Apc A T 18: 34,449,590 (GRCm39) N2128I possibly damaging Het
Api5 T C 2: 94,260,162 (GRCm39) I31M probably damaging Het
Armcx4 T G X: 133,596,128 (GRCm39) V2012G possibly damaging Het
Aurka T C 2: 172,212,365 (GRCm39) E4G probably benign Het
B4galt5 T A 2: 167,148,558 (GRCm39) M187L probably benign Het
Bsn T C 9: 107,993,313 (GRCm39) D813G probably damaging Het
Bub1 A T 2: 127,643,343 (GRCm39) D1000E probably benign Het
Cacna1f T G X: 7,492,687 (GRCm39) probably null Het
Cdh6 A G 15: 13,041,447 (GRCm39) I539T probably benign Het
Cdhr3 T C 12: 33,088,914 (GRCm39) D756G probably benign Het
Cenph A T 13: 100,907,744 (GRCm39) D85E probably benign Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Clec2h A G 6: 128,650,945 (GRCm39) N75S probably benign Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Cox4i1 T A 8: 121,400,029 (GRCm39) V51E possibly damaging Het
Cpne3 A T 4: 19,553,871 (GRCm39) N53K probably damaging Het
Cpt1b A G 15: 89,303,301 (GRCm39) F585L probably benign Het
Daam1 G A 12: 72,021,997 (GRCm39) D732N probably damaging Het
Dner A T 1: 84,560,801 (GRCm39) C115S probably damaging Het
Dop1a T A 9: 86,395,170 (GRCm39) F759Y probably damaging Het
Dst T C 1: 34,050,990 (GRCm39) Y29H probably damaging Het
Dst T C 1: 34,227,498 (GRCm39) V1875A possibly damaging Het
Duox1 A G 2: 122,163,619 (GRCm39) D817G probably benign Het
Emc2 A T 15: 43,375,094 (GRCm39) probably null Het
Erich3 A T 3: 154,404,296 (GRCm39) E51V probably null Het
Exoc2 A G 13: 31,066,348 (GRCm39) Y443H possibly damaging Het
Fbf1 T C 11: 116,046,252 (GRCm39) R200G probably benign Het
Fdxr G A 11: 115,162,806 (GRCm39) T100I probably damaging Het
Galnt11 C G 5: 25,452,610 (GRCm39) P41A probably damaging Het
Galnt4 A G 10: 98,945,148 (GRCm39) K291R possibly damaging Het
Gm12695 T A 4: 96,642,426 (GRCm39) E301V probably damaging Het
Gopc C T 10: 52,229,422 (GRCm39) probably null Het
Gria1 A T 11: 57,180,146 (GRCm39) T699S probably null Het
Gsr T G 8: 34,170,316 (GRCm39) D200E probably benign Het
Ikzf2 G A 1: 69,578,447 (GRCm39) A282V probably benign Het
Irak2 T C 6: 113,624,639 (GRCm39) I45T probably damaging Het
Irx1 T C 13: 72,107,939 (GRCm39) K248E probably damaging Het
Kcns3 A C 12: 11,142,087 (GRCm39) V204G possibly damaging Het
Lmo1 C A 7: 108,739,848 (GRCm39) M91I probably damaging Het
Map3k21 A G 8: 126,666,677 (GRCm39) D623G possibly damaging Het
Map4 A G 9: 109,866,551 (GRCm39) probably benign Het
Mark3 T A 12: 111,593,676 (GRCm39) V236E probably damaging Het
Med23 A G 10: 24,786,711 (GRCm39) D939G probably damaging Het
Mrgpra9 A G 7: 46,885,242 (GRCm39) C142R possibly damaging Het
N4bp2 T A 5: 65,947,404 (GRCm39) D11E probably benign Het
Ntng2 T C 2: 29,097,531 (GRCm39) N310S probably damaging Het
Or10ak7 T C 4: 118,791,122 (GRCm39) M308V probably benign Het
Or6b3 A G 1: 92,439,100 (GRCm39) S217P probably damaging Het
Pcolce A G 5: 137,605,313 (GRCm39) V260A possibly damaging Het
Pds5b C A 5: 150,679,893 (GRCm39) T533K possibly damaging Het
Pecr A G 1: 72,301,135 (GRCm39) Y268H probably benign Het
Phax T A 18: 56,719,956 (GRCm39) F299Y probably damaging Het
Phip T C 9: 82,797,392 (GRCm39) H537R possibly damaging Het
Pramel32 T A 4: 88,547,448 (GRCm39) K161N possibly damaging Het
Prpf39 T A 12: 65,104,589 (GRCm39) F551L probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ralgapa1 G A 12: 55,764,986 (GRCm39) P889S probably damaging Het
Rpap1 A G 2: 119,610,535 (GRCm39) probably null Het
Rufy3 T C 5: 88,797,757 (GRCm39) S645P probably damaging Het
Samd1 CGAGGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGAGGA 8: 84,725,625 (GRCm39) probably benign Het
Spata7 G T 12: 98,624,709 (GRCm39) A172S probably benign Het
Stk35 A G 2: 129,643,435 (GRCm39) T140A probably damaging Het
Thop1 T G 10: 80,906,098 (GRCm39) M1R probably null Het
Tlr1 T C 5: 65,082,639 (GRCm39) Y646C probably damaging Het
Tpp2 A G 1: 44,040,609 (GRCm39) Y290C probably benign Het
Tpr A G 1: 150,268,695 (GRCm39) M1V probably null Het
Trim6 T C 7: 103,877,392 (GRCm39) F161L probably damaging Het
Ubash3b T C 9: 41,068,650 (GRCm39) K25E possibly damaging Het
Unc80 A G 1: 66,651,266 (GRCm39) N1537S possibly damaging Het
Usb1 T C 8: 96,069,752 (GRCm39) F100S probably damaging Het
Vmn1r17 C A 6: 57,338,244 (GRCm39) L40F probably damaging Het
Vmn1r233 A T 17: 21,214,110 (GRCm39) M280K probably benign Het
Zfp37 A T 4: 62,109,493 (GRCm39) C524S probably damaging Het
Zfp426 T C 9: 20,381,727 (GRCm39) K420R probably benign 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
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
Predicted Primers
Posted On 2015-02-05