Incidental Mutation 'R0095:Unc45a'
ID 17012
Institutional Source Beutler Lab
Gene Symbol Unc45a
Ensembl Gene ENSMUSG00000030533
Gene Name unc-45 myosin chaperone A
Synonyms
MMRRC Submission 038381-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0095 (G1)
Quality Score
Status Validated
Chromosome 7
Chromosomal Location 79975040-79990748 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79979291 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 567 (D567G)
Ref Sequence ENSEMBL: ENSMUSP00000119665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032748] [ENSMUST00000107368] [ENSMUST00000133728] [ENSMUST00000154428]
AlphaFold Q99KD5
Predicted Effect probably damaging
Transcript: ENSMUST00000032748
AA Change: D567G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032748
Gene: ENSMUSG00000030533
AA Change: D567G

DomainStartEndE-ValueType
TPR 21 54 9.53e-2 SMART
TPR 58 91 5.48e-2 SMART
TPR 92 125 7.45e-4 SMART
Blast:ARM 183 224 6e-9 BLAST
Blast:ARM 226 266 1e-7 BLAST
Pfam:UNC45-central 287 505 1.2e-43 PFAM
Blast:ARM 679 717 4e-13 BLAST
Blast:ARM 720 762 4e-12 BLAST
Blast:ARM 764 804 8e-16 BLAST
low complexity region 833 845 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107368
AA Change: D567G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102991
Gene: ENSMUSG00000030533
AA Change: D567G

DomainStartEndE-ValueType
TPR 21 54 9.53e-2 SMART
TPR 58 91 5.48e-2 SMART
TPR 92 125 7.45e-4 SMART
Blast:ARM 183 224 6e-9 BLAST
Blast:ARM 226 266 1e-7 BLAST
Pfam:UNC45-central 314 505 2.4e-38 PFAM
Blast:ARM 679 717 4e-13 BLAST
Blast:ARM 720 762 4e-12 BLAST
Blast:ARM 764 804 8e-16 BLAST
low complexity region 833 845 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133728
SMART Domains Protein: ENSMUSP00000123399
Gene: ENSMUSG00000030533

DomainStartEndE-ValueType
TPR 6 39 9.53e-2 SMART
TPR 43 76 5.48e-2 SMART
TPR 77 110 7.45e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000154428
AA Change: D567G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119665
Gene: ENSMUSG00000030533
AA Change: D567G

DomainStartEndE-ValueType
TPR 21 54 9.53e-2 SMART
TPR 58 91 5.48e-2 SMART
TPR 92 125 7.45e-4 SMART
Blast:ARM 183 224 4e-9 BLAST
Blast:ARM 226 266 6e-8 BLAST
Pfam:UNC45-central 287 505 3.5e-44 PFAM
low complexity region 597 608 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000206363
Meta Mutation Damage Score 0.9091 question?
Coding Region Coverage
  • 1x: 88.6%
  • 3x: 85.1%
  • 10x: 74.3%
  • 20x: 56.3%
Validation Efficiency 88% (50/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] UNC45A plays a role in cell proliferation and myoblast fusion, binds progesterone receptor (PGR; MIM 607311) and HSP90 (HSPCA; MIM 140571), and acts as a regulator of the progesterone receptor chaperoning pathway (Price et al., 2002 [PubMed 12356907]; Chadli et al., 2006 [PubMed 16478993]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adhfe1 T C 1: 9,630,402 (GRCm39) I317T possibly damaging Het
Aldh3a2 C T 11: 61,141,774 (GRCm39) G21D probably damaging Het
Alms1 C A 6: 85,597,235 (GRCm39) T1156N possibly damaging Het
Anxa8 G A 14: 33,808,028 (GRCm39) A6T probably benign Het
Arhgef4 C T 1: 34,771,451 (GRCm39) Q86* probably null Het
Atp4a T A 7: 30,420,160 (GRCm39) I769N probably damaging Het
Cacnb2 G T 2: 14,963,586 (GRCm39) V61F probably damaging Het
Clcf1 T G 19: 4,265,842 (GRCm39) probably benign Het
Cmah G T 13: 24,620,668 (GRCm39) A301S probably benign Het
Col6a4 A G 9: 105,952,555 (GRCm39) W448R probably benign Het
Csmd1 A T 8: 16,283,065 (GRCm39) D630E probably damaging Het
Dock10 A T 1: 80,501,788 (GRCm39) Y1434N probably benign Het
Etl4 A G 2: 20,748,679 (GRCm39) D137G probably damaging Het
Fer A T 17: 64,248,321 (GRCm39) E361V possibly damaging Het
Foxp2 C A 6: 15,196,976 (GRCm39) A6E probably damaging Het
Gpr3 T A 4: 132,938,597 (GRCm39) D25V probably benign Het
Gstm7 A T 3: 107,837,879 (GRCm39) probably benign Het
Gys1 T C 7: 45,094,073 (GRCm39) V332A possibly damaging Het
Igsf10 A T 3: 59,238,617 (GRCm39) Y521* probably null Het
Itk T C 11: 46,233,279 (GRCm39) D266G probably damaging Het
Kdm1a C T 4: 136,278,205 (GRCm39) R839H probably benign Het
Lypla1 T C 1: 4,900,550 (GRCm39) probably benign Het
Mmp1a G A 9: 7,465,621 (GRCm39) G186D possibly damaging Het
Myl3 A C 9: 110,596,997 (GRCm39) D119A probably damaging Het
Necab1 T A 4: 14,960,027 (GRCm39) N307Y possibly damaging Het
Or5p81 A C 7: 108,267,252 (GRCm39) I210L probably benign Het
Plekha5 T C 6: 140,474,323 (GRCm39) F84L probably damaging Het
Plxnb2 A G 15: 89,049,534 (GRCm39) S562P probably benign Het
Rfx8 C T 1: 39,724,696 (GRCm39) V222M possibly damaging Het
Rpap3 A G 15: 97,578,417 (GRCm39) probably benign Het
Rpl6 T G 5: 121,343,902 (GRCm39) V115G possibly damaging Het
Sec16a A T 2: 26,315,772 (GRCm39) probably null Het
Sema3d T C 5: 12,613,314 (GRCm39) Y464H probably damaging Het
Sgo2a T A 1: 58,054,714 (GRCm39) N299K probably benign Het
Tecrl T C 5: 83,442,417 (GRCm39) probably benign Het
Thsd7a T C 6: 12,320,969 (GRCm39) T1569A probably damaging Het
U2surp T C 9: 95,382,737 (GRCm39) probably null Het
Zfp532 A G 18: 65,757,855 (GRCm39) Y596C probably damaging Het
Other mutations in Unc45a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02252:Unc45a APN 7 79,982,717 (GRCm39) intron probably benign
IGL02266:Unc45a APN 7 79,978,234 (GRCm39) missense probably damaging 0.96
IGL02383:Unc45a APN 7 79,989,410 (GRCm39) nonsense probably null
IGL02959:Unc45a APN 7 79,982,721 (GRCm39) intron probably benign
IGL03168:Unc45a APN 7 79,982,881 (GRCm39) missense probably damaging 1.00
PIT4131001:Unc45a UTSW 7 79,976,109 (GRCm39) missense possibly damaging 0.74
R0095:Unc45a UTSW 7 79,979,291 (GRCm39) missense probably damaging 1.00
R0276:Unc45a UTSW 7 79,976,045 (GRCm39) intron probably benign
R0373:Unc45a UTSW 7 79,976,092 (GRCm39) missense probably damaging 0.97
R1827:Unc45a UTSW 7 79,981,488 (GRCm39) missense possibly damaging 0.77
R2120:Unc45a UTSW 7 79,989,846 (GRCm39) missense probably benign 0.29
R2440:Unc45a UTSW 7 79,978,805 (GRCm39) missense probably damaging 1.00
R2442:Unc45a UTSW 7 79,989,417 (GRCm39) missense probably damaging 1.00
R2508:Unc45a UTSW 7 79,988,623 (GRCm39) missense probably benign
R3077:Unc45a UTSW 7 79,988,680 (GRCm39) missense probably damaging 0.97
R3108:Unc45a UTSW 7 79,981,294 (GRCm39) intron probably benign
R3109:Unc45a UTSW 7 79,981,294 (GRCm39) intron probably benign
R3620:Unc45a UTSW 7 79,983,799 (GRCm39) missense possibly damaging 0.84
R4471:Unc45a UTSW 7 79,982,728 (GRCm39) missense possibly damaging 0.94
R4644:Unc45a UTSW 7 79,978,257 (GRCm39) missense probably damaging 1.00
R4651:Unc45a UTSW 7 79,982,777 (GRCm39) missense possibly damaging 0.93
R4838:Unc45a UTSW 7 79,982,783 (GRCm39) missense probably damaging 1.00
R5234:Unc45a UTSW 7 79,978,547 (GRCm39) missense probably benign 0.17
R5452:Unc45a UTSW 7 79,978,787 (GRCm39) missense probably damaging 1.00
R5574:Unc45a UTSW 7 79,984,604 (GRCm39) missense probably damaging 0.98
R5750:Unc45a UTSW 7 79,984,571 (GRCm39) missense probably benign 0.17
R6169:Unc45a UTSW 7 79,978,511 (GRCm39) missense possibly damaging 0.92
R6417:Unc45a UTSW 7 79,989,400 (GRCm39) missense probably benign 0.04
R6420:Unc45a UTSW 7 79,989,400 (GRCm39) missense probably benign 0.04
R6486:Unc45a UTSW 7 79,989,400 (GRCm39) missense probably benign 0.04
R6533:Unc45a UTSW 7 79,983,817 (GRCm39) missense probably damaging 1.00
R6734:Unc45a UTSW 7 79,986,746 (GRCm39) missense probably damaging 1.00
R6993:Unc45a UTSW 7 79,975,403 (GRCm39) missense probably damaging 1.00
R7085:Unc45a UTSW 7 79,976,082 (GRCm39) missense possibly damaging 0.87
R7180:Unc45a UTSW 7 79,979,569 (GRCm39) splice site probably null
R7561:Unc45a UTSW 7 79,981,334 (GRCm39) missense possibly damaging 0.63
R8079:Unc45a UTSW 7 79,981,310 (GRCm39) missense probably damaging 1.00
R8395:Unc45a UTSW 7 79,976,080 (GRCm39) missense probably benign 0.08
R8547:Unc45a UTSW 7 79,975,840 (GRCm39) missense possibly damaging 0.76
R9620:Unc45a UTSW 7 79,975,403 (GRCm39) missense probably damaging 1.00
R9621:Unc45a UTSW 7 79,983,785 (GRCm39) missense probably damaging 1.00
R9694:Unc45a UTSW 7 79,975,403 (GRCm39) missense probably damaging 1.00
R9728:Unc45a UTSW 7 79,978,448 (GRCm39) missense probably benign 0.02
Posted On 2013-01-20