Incidental Mutation 'R3620:Unc45a'
ID 268594
Institutional Source Beutler Lab
Gene Symbol Unc45a
Ensembl Gene ENSMUSG00000030533
Gene Name unc-45 myosin chaperone A
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3620 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 79975040-79990748 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 79983799 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 332 (N332K)
Ref Sequence ENSEMBL: ENSMUSP00000119665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032748] [ENSMUST00000107368] [ENSMUST00000133728] [ENSMUST00000154428]
AlphaFold Q99KD5
Predicted Effect possibly damaging
Transcript: ENSMUST00000032748
AA Change: N332K

PolyPhen 2 Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000032748
Gene: ENSMUSG00000030533
AA Change: N332K

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 possibly damaging
Transcript: ENSMUST00000107368
AA Change: N332K

PolyPhen 2 Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102991
Gene: ENSMUSG00000030533
AA Change: N332K

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 noncoding transcript
Transcript: ENSMUST00000141774
Predicted Effect possibly damaging
Transcript: ENSMUST00000154428
AA Change: N332K

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119665
Gene: ENSMUSG00000030533
AA Change: N332K

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 noncoding transcript
Transcript: ENSMUST00000206032
Predicted Effect probably benign
Transcript: ENSMUST00000206363
Meta Mutation Damage Score 0.0973 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 100% (44/44)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,226,864 (GRCm39) M473T probably benign Het
Asxl1 C A 2: 153,199,075 (GRCm39) R76S probably damaging Het
Bhlhe41 C A 6: 145,808,733 (GRCm39) G360C possibly damaging Het
Ccdc88a T C 11: 29,380,227 (GRCm39) I201T probably benign Het
Ccng1 T C 11: 40,642,992 (GRCm39) T152A probably benign Het
Cep192 T C 18: 67,962,928 (GRCm39) V648A probably benign Het
Cldn16 T A 16: 26,296,302 (GRCm39) F93I possibly damaging Het
Csmd1 T C 8: 16,042,684 (GRCm39) S2350G probably benign Het
Enpp6 T C 8: 47,518,540 (GRCm39) W223R probably benign Het
Fah T C 7: 84,238,159 (GRCm39) probably null Het
Fat2 A T 11: 55,147,521 (GRCm39) V3907D probably damaging Het
Fsip2 C A 2: 82,810,602 (GRCm39) T2307K probably benign Het
Gcg T C 2: 62,307,279 (GRCm39) E94G probably damaging Het
Gramd1b C A 9: 40,366,842 (GRCm39) R42L probably benign Het
H2bc9 C A 13: 23,727,324 (GRCm39) V67L probably benign Het
Hdc T A 2: 126,458,187 (GRCm39) Y45F possibly damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Igsf10 T G 3: 59,243,752 (GRCm39) D194A probably damaging Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Lrpprc A T 17: 85,077,452 (GRCm39) C412S probably benign Het
Mga T A 2: 119,747,149 (GRCm39) D433E probably damaging Het
Myo15a A T 11: 60,369,468 (GRCm39) S743C possibly damaging Het
Myo15b T G 11: 115,762,013 (GRCm39) L1176R possibly damaging Het
Ndor1 T C 2: 25,138,047 (GRCm39) Q526R probably damaging Het
Nipbl A G 15: 8,362,508 (GRCm39) I1429T probably damaging Het
Or1d2 T A 11: 74,256,050 (GRCm39) L185Q probably damaging Het
Or4c126 T C 2: 89,824,196 (GRCm39) I153T probably damaging Het
Or4k38 T A 2: 111,165,689 (GRCm39) I245L probably benign Het
Otogl T C 10: 107,710,232 (GRCm39) D619G probably damaging Het
Pa2g4 C G 10: 128,399,464 (GRCm39) E67Q probably damaging Het
Pnpla1 C T 17: 29,096,362 (GRCm39) A147V probably damaging Het
Prdm13 A G 4: 21,683,532 (GRCm39) Y143H unknown Het
Rad23a A G 8: 85,567,193 (GRCm39) M1T probably null Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Slc10a2 A T 8: 5,154,909 (GRCm39) I92N probably damaging Het
Slc24a4 T C 12: 102,185,222 (GRCm39) F111L probably damaging Het
Sox11 T C 12: 27,391,735 (GRCm39) T225A probably benign Het
Thbs1 T C 2: 117,951,640 (GRCm39) V820A probably benign Het
Vmn1r159 A C 7: 22,542,258 (GRCm39) I258S possibly damaging Het
Wdr31 A T 4: 62,375,701 (GRCm39) F251L possibly damaging Het
Wdr43 C T 17: 71,957,601 (GRCm39) T530M probably benign Het
Zfp445 C T 9: 122,681,833 (GRCm39) A703T 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
R3109:Unc45a UTSW 7 79,981,294 (GRCm39) intron probably benign
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'- ATATACACTCATCTGGAAGGCC -3'
(R):5'- AATATACCTCTCTCCGTTGTGTGG -3'

Sequencing Primer
(F):5'- TCATCTGGAAGGCCTCACAG -3'
(R):5'- CATTAGGTCGTGGCCATTGATCAC -3'
Posted On 2015-02-19