Incidental Mutation 'R3109:Unc45a'
ID 263698
Institutional Source Beutler Lab
Gene Symbol Unc45a
Ensembl Gene ENSMUSG00000030533
Gene Name unc-45 myosin chaperone A
Synonyms
MMRRC Submission 040583-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3109 (G1)
Quality Score 182
Status Validated
Chromosome 7
Chromosomal Location 79975040-79990748 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 79981294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000032748] [ENSMUST00000107368] [ENSMUST00000133728] [ENSMUST00000154428]
AlphaFold Q99KD5
Predicted Effect probably benign
Transcript: ENSMUST00000032748
SMART Domains Protein: ENSMUSP00000032748
Gene: ENSMUSG00000030533

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 benign
Transcript: ENSMUST00000107368
SMART Domains Protein: ENSMUSP00000102991
Gene: ENSMUSG00000030533

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 benign
Transcript: ENSMUST00000154428
SMART Domains Protein: ENSMUSP00000119665
Gene: ENSMUSG00000030533

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (33/33)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A G 2: 152,284,376 (GRCm39) E323G probably damaging Het
Adamts20 T C 15: 94,243,785 (GRCm39) probably benign Het
Alkbh3 T C 2: 93,835,108 (GRCm39) E80G probably damaging Het
Amfr T C 8: 94,726,934 (GRCm39) Y93C probably damaging Het
Arid2 T C 15: 96,254,627 (GRCm39) Y158H probably damaging Het
Camk1g T C 1: 193,037,301 (GRCm39) Y133C probably damaging Het
Cnnm1 T C 19: 43,430,000 (GRCm39) C373R probably damaging Het
Cnot1 A G 8: 96,462,377 (GRCm39) V1691A probably damaging Het
Cubn T C 2: 13,367,158 (GRCm39) S1571G possibly damaging Het
Dclk2 G A 3: 86,827,342 (GRCm39) P46S probably damaging Het
Dennd1b G A 1: 138,969,654 (GRCm39) probably benign Het
Dmrt2 C A 19: 25,655,055 (GRCm39) T218N probably benign Het
Drd4 T A 7: 140,872,195 (GRCm39) V82E possibly damaging Het
Fat1 G A 8: 45,498,210 (GRCm39) probably null Het
Fyn G C 10: 39,427,451 (GRCm39) D445H probably damaging Het
Igfn1 T C 1: 135,925,586 (GRCm39) D56G probably benign Het
Igkv11-125 T C 6: 67,890,855 (GRCm39) F58L possibly damaging Het
Klhdc4 A C 8: 122,548,073 (GRCm39) H72Q probably damaging Het
Kmt2c A G 5: 25,480,733 (GRCm39) Y1459H probably damaging Het
Lama2 C T 10: 26,877,231 (GRCm39) E2652K probably benign Het
Muc5b C T 7: 141,412,496 (GRCm39) T1814M unknown Het
Ntrk3 C T 7: 78,110,263 (GRCm39) V324M probably benign Het
Or52s1b T A 7: 102,822,293 (GRCm39) M184L probably damaging Het
Per2 A T 1: 91,373,297 (GRCm39) C164S probably benign Het
Ptprn2 A G 12: 116,839,800 (GRCm39) D441G probably benign Het
Rbl2 T A 8: 91,828,863 (GRCm39) I588N probably benign Het
Rslcan18 C T 13: 67,246,671 (GRCm39) E314K possibly damaging Het
Ubr3 A T 2: 69,819,184 (GRCm39) T1325S probably damaging Het
Vmn1r175 A G 7: 23,508,393 (GRCm39) V78A probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- CAGGCCTTTCTAACCAGCAG -3'
(R):5'- TGTCATGGAGAGCGTGATAGC -3'

Sequencing Primer
(F):5'- CTTTCTAACCAGCAGGGGACAG -3'
(R):5'- AGCGTGATAGCTCTGTGC -3'
Posted On 2015-02-05