Incidental Mutation 'R4644:Unc45a'
ID 351774
Institutional Source Beutler Lab
Gene Symbol Unc45a
Ensembl Gene ENSMUSG00000030533
Gene Name unc-45 myosin chaperone A
Synonyms
MMRRC Submission 041905-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4644 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 79975040-79990748 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 79978257 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 673 (A673T)
Ref Sequence ENSEMBL: ENSMUSP00000102991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032748] [ENSMUST00000047362] [ENSMUST00000107368] [ENSMUST00000121882] [ENSMUST00000123189] [ENSMUST00000154428]
AlphaFold Q99KD5
Predicted Effect probably damaging
Transcript: ENSMUST00000032748
AA Change: A673T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032748
Gene: ENSMUSG00000030533
AA Change: A673T

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: ENSMUST00000047362
SMART Domains Protein: ENSMUSP00000048043
Gene: ENSMUSG00000038930

DomainStartEndE-ValueType
low complexity region 10 18 N/A INTRINSIC
Pfam:RCC1 179 228 2.9e-17 PFAM
Pfam:RCC1_2 215 244 1.3e-10 PFAM
Pfam:RCC1 231 316 7.8e-9 PFAM
Pfam:RCC1_2 303 332 3.3e-10 PFAM
Pfam:RCC1 319 370 4.1e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107368
AA Change: A673T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102991
Gene: ENSMUSG00000030533
AA Change: A673T

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: ENSMUST00000121882
SMART Domains Protein: ENSMUSP00000113273
Gene: ENSMUSG00000038930

DomainStartEndE-ValueType
low complexity region 10 18 N/A INTRINSIC
Pfam:RCC1 179 228 7.4e-18 PFAM
Pfam:RCC1_2 216 244 5.5e-10 PFAM
Pfam:RCC1_2 304 332 6.2e-10 PFAM
Pfam:RCC1 319 370 1.3e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123109
Predicted Effect probably benign
Transcript: ENSMUST00000123189
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148001
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155124
Predicted Effect probably benign
Transcript: ENSMUST00000206363
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205863
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134288
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
Meta Mutation Damage Score 0.2126 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (44/45)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 T G 1: 165,378,930 (GRCm39) probably null Het
Ano5 C A 7: 51,237,433 (GRCm39) Y702* probably null Het
Bsph2 A T 7: 13,304,942 (GRCm39) V11E possibly damaging Het
Camk1g T A 1: 193,038,667 (GRCm39) D85V probably damaging Het
Caskin1 G A 17: 24,725,602 (GRCm39) S1296N probably benign Het
Cflar T A 1: 58,770,426 (GRCm39) I173N probably damaging Het
Dgkd T C 1: 87,864,016 (GRCm39) V904A probably damaging Het
Dnajc21 T C 15: 10,464,003 (GRCm39) D54G possibly damaging Het
Doc2a C A 7: 126,450,618 (GRCm39) T298K probably benign Het
Dsg1a A T 18: 20,473,785 (GRCm39) I953L probably benign Het
Fga C A 3: 82,937,573 (GRCm39) A150E possibly damaging Het
Frem3 T A 8: 81,340,356 (GRCm39) M883K probably benign Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Klhdc4 G C 8: 122,548,739 (GRCm39) probably benign Het
Mgst1 T C 6: 138,133,368 (GRCm39) Y50H probably damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Nsmaf A G 4: 6,419,940 (GRCm39) probably benign Het
Pp2d1 T C 17: 53,823,015 (GRCm39) K17R probably benign Het
Prss39 C T 1: 34,541,207 (GRCm39) T237M probably damaging Het
Ptpra T C 2: 130,386,078 (GRCm39) I595T probably damaging Het
Ptpre C T 7: 135,253,661 (GRCm39) probably benign Het
Rictor C A 15: 6,807,416 (GRCm39) C728* probably null Het
Scn11a C T 9: 119,644,269 (GRCm39) probably null Het
Scn1b A T 7: 30,817,212 (GRCm39) L170* probably null Het
Semp2l2b A G 10: 21,942,660 (GRCm39) V440A probably benign Het
Slc35f3 A G 8: 127,047,809 (GRCm39) R50G possibly damaging Het
Sorcs3 G A 19: 48,672,036 (GRCm39) V412M probably damaging Het
Spg11 C T 2: 121,891,510 (GRCm39) V1954I probably benign Het
Srcap C T 7: 127,151,770 (GRCm39) R2049C probably damaging Het
Ssh2 T C 11: 77,340,402 (GRCm39) V518A possibly damaging Het
Stab1 G A 14: 30,862,444 (GRCm39) probably benign Het
Tenm2 A G 11: 35,937,963 (GRCm39) F1570S probably benign Het
Tpr T A 1: 150,299,250 (GRCm39) V1076E probably benign Het
Ttn A T 2: 76,562,757 (GRCm39) Y26986* probably null Het
Utp25 A G 1: 192,810,788 (GRCm39) Y72H 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
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
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'- GGAGCCTGTCCACAGAAGTATC -3'
(R):5'- TGCTGACGAACTCCTGTAGG -3'

Sequencing Primer
(F):5'- GTATCACACTCCACTGGCAAAAGTTC -3'
(R):5'- AGCTACTCTCCAGGTGAGC -3'
Posted On 2015-10-08