Incidental Mutation 'R2067:Unc45b'
ID 226783
Institutional Source Beutler Lab
Gene Symbol Unc45b
Ensembl Gene ENSMUSG00000018845
Gene Name unc-45 myosin chaperone B
Synonyms UNC45, Cmya4, D230041A13Rik
MMRRC Submission 040072-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2067 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 82802112-82834284 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 82802515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 4 (A4T)
Ref Sequence ENSEMBL: ENSMUSP00000129405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018989] [ENSMUST00000103213] [ENSMUST00000108160] [ENSMUST00000164945]
AlphaFold Q8CGY6
Predicted Effect probably benign
Transcript: ENSMUST00000018989
AA Change: A4T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000018989
Gene: ENSMUSG00000018845
AA Change: A4T

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: ENSMUST00000103213
SMART Domains Protein: ENSMUSP00000099502
Gene: ENSMUSG00000020692

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
Pfam:NLE 17 77 3.6e-15 PFAM
WD40 103 142 5.22e-12 SMART
WD40 145 184 1.48e-11 SMART
WD40 188 232 1.66e-5 SMART
WD40 235 273 3.11e-10 SMART
WD40 276 357 1.14e-3 SMART
WD40 361 400 8.81e-10 SMART
WD40 403 442 1.69e-11 SMART
WD40 445 484 9.44e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108160
AA Change: A4T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000103795
Gene: ENSMUSG00000018845
AA Change: A4T

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: ENSMUST00000126202
SMART Domains Protein: ENSMUSP00000130605
Gene: ENSMUSG00000020692

DomainStartEndE-ValueType
SCOP:d1flga_ 12 46 2e-5 SMART
Blast:WD40 22 48 2e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147915
Predicted Effect probably benign
Transcript: ENSMUST00000164945
AA Change: A4T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000129405
Gene: ENSMUSG00000018845
AA Change: A4T

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (76/78)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik T A 4: 122,583,115 (GRCm39) probably benign Het
Abca2 A T 2: 25,327,517 (GRCm39) I669F possibly damaging Het
Acin1 T A 14: 54,902,711 (GRCm39) Q360H probably damaging Het
Aldh3b1 T A 19: 3,971,755 (GRCm39) D72V probably benign Het
Alox12e G A 11: 70,206,828 (GRCm39) R620W probably damaging Het
Alpl T C 4: 137,476,856 (GRCm39) probably benign Het
Amy2a1 T C 3: 113,324,217 (GRCm39) I108V probably benign Het
Ascc2 A T 11: 4,631,496 (GRCm39) M646L probably benign Het
Bod1l G A 5: 41,974,429 (GRCm39) T2295M probably benign Het
Ccdc9 A T 7: 16,012,475 (GRCm39) probably null Het
Clptm1l C T 13: 73,755,842 (GRCm39) Q153* probably null Het
Csmd1 A G 8: 15,950,782 (GRCm39) S3476P probably benign Het
Ddias A T 7: 92,508,907 (GRCm39) M336K possibly damaging Het
Ehd1 T C 19: 6,348,108 (GRCm39) L362P probably benign Het
Epha1 G T 6: 42,342,987 (GRCm39) H187Q probably benign Het
Espl1 T C 15: 102,207,525 (GRCm39) S330P probably damaging Het
Fbln7 G T 2: 128,719,386 (GRCm39) R61L probably damaging Het
Fbxo41 C T 6: 85,455,453 (GRCm39) W577* probably null Het
Fgb C A 3: 82,956,996 (GRCm39) D25Y probably benign Het
Gc T A 5: 89,594,376 (GRCm39) K37N probably damaging Het
Gfpt1 T C 6: 87,034,736 (GRCm39) I178T probably benign Het
Gm12695 T C 4: 96,657,963 (GRCm39) T69A probably benign Het
Gm3944 C A 12: 18,903,895 (GRCm39) S8* probably null Het
Gm9912 T C 3: 148,890,795 (GRCm39) T113A unknown Het
Gpr156 A G 16: 37,799,113 (GRCm39) D109G probably benign Het
Hoxd1 A T 2: 74,593,710 (GRCm39) T89S probably benign Het
Htt C T 5: 34,983,326 (GRCm39) T975I probably benign Het
Itpr3 G A 17: 27,317,050 (GRCm39) M768I probably benign Het
Krt4 C A 15: 101,833,099 (GRCm39) A3S possibly damaging Het
Mrto4 T C 4: 139,076,334 (GRCm39) K86E probably benign Het
Mup4 T A 4: 59,960,622 (GRCm39) probably benign Het
Myh1 G A 11: 67,105,446 (GRCm39) D1079N possibly damaging Het
Myo1a A G 10: 127,541,347 (GRCm39) N43D probably benign Het
Napa A T 7: 15,849,203 (GRCm39) probably benign Het
Ndufa12 A G 10: 94,056,569 (GRCm39) D99G probably damaging Het
Neb A G 2: 52,174,275 (GRCm39) I1528T probably benign Het
Nek1 T C 8: 61,460,196 (GRCm39) S41P probably damaging Het
Nolc1 C T 19: 46,072,046 (GRCm39) T612M probably damaging Het
Nsun5 T G 5: 135,403,926 (GRCm39) Y301D probably damaging Het
Oas1g T C 5: 121,023,946 (GRCm39) E121G probably damaging Het
Or1e1f A G 11: 73,855,740 (GRCm39) Y102C probably damaging Het
Or2ab1 A G 11: 58,488,396 (GRCm39) N58S probably damaging Het
Or5d41 A G 2: 88,054,818 (GRCm39) V186A possibly damaging Het
Or6ae1 T A 7: 139,742,822 (GRCm39) I14F possibly damaging Het
Or8b46 T A 9: 38,450,576 (GRCm39) N128K probably benign Het
Or8k38 G T 2: 86,488,781 (GRCm39) T7K probably damaging Het
Osmr T C 15: 6,844,896 (GRCm39) N957D probably benign Het
Parn G A 16: 13,420,933 (GRCm39) S473L probably damaging Het
Phc2 T C 4: 128,640,929 (GRCm39) F672S probably damaging Het
Pik3c2b T C 1: 133,027,349 (GRCm39) S1283P probably damaging Het
Pole2 G A 12: 69,274,926 (GRCm39) R5W probably benign Het
Prl7a2 T A 13: 27,844,870 (GRCm39) Y172F probably damaging Het
Ptprz1 A G 6: 23,050,388 (GRCm39) probably benign Het
Rapgef3 C A 15: 97,664,842 (GRCm39) G7V probably damaging Het
Ripor1 T A 8: 106,344,340 (GRCm39) S491R probably benign Het
Rnf141 A G 7: 110,420,572 (GRCm39) probably benign Het
Ryr3 C T 2: 112,777,302 (GRCm39) R285Q probably damaging Het
Sall4 T C 2: 168,598,465 (GRCm39) N125S probably benign Het
Schip1 A G 3: 68,525,119 (GRCm39) K360R probably damaging Het
Senp6 T A 9: 79,997,151 (GRCm39) V55E probably benign Het
Skint1 T A 4: 111,882,730 (GRCm39) V258D probably benign Het
Slc25a16 T A 10: 62,768,530 (GRCm39) H130Q probably benign Het
Styx T C 14: 45,611,020 (GRCm39) V217A probably benign Het
Syne2 G A 12: 75,935,116 (GRCm39) probably null Het
Tagap1 A G 17: 7,224,259 (GRCm39) S146P probably benign Het
Tatdn2 A G 6: 113,681,103 (GRCm39) K379E probably benign Het
Thrap3 T C 4: 126,069,189 (GRCm39) Y654C possibly damaging Het
Tle2 T C 10: 81,416,385 (GRCm39) L135P probably damaging Het
Tmc1 A G 19: 20,801,673 (GRCm39) F451S possibly damaging Het
Trpm7 G A 2: 126,639,647 (GRCm39) P1650S probably damaging Het
Ttll4 G A 1: 74,719,541 (GRCm39) R16H possibly damaging Het
Ttn T C 2: 76,544,717 (GRCm39) N32795S probably damaging Het
Tubgcp6 T C 15: 88,988,692 (GRCm39) E803G probably benign Het
Ubr2 A G 17: 47,274,071 (GRCm39) probably null Het
Ugt2b35 A G 5: 87,149,412 (GRCm39) D221G probably damaging Het
Vmn1r70 A T 7: 10,368,264 (GRCm39) I251F possibly damaging Het
Vmn2r120 T A 17: 57,831,553 (GRCm39) H412L possibly damaging Het
Zfp59 A G 7: 27,552,935 (GRCm39) N129S probably benign Het
Zgrf1 T C 3: 127,406,999 (GRCm39) C1589R 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
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
Predicted Primers PCR Primer
(F):5'- ACTCTGACAACCCTTTCAGTGG -3'
(R):5'- TGTCCCAGACCATTTTCAGG -3'

Sequencing Primer
(F):5'- TTTCAGTGGGAGTCAAGCCC -3'
(R):5'- AGACCATTTTCAGGCCGCAG -3'
Posted On 2014-09-17