Incidental Mutation 'R2120:Unc45a'
ID 231376
Institutional Source Beutler Lab
Gene Symbol Unc45a
Ensembl Gene ENSMUSG00000030533
Gene Name unc-45 myosin chaperone A
Synonyms
MMRRC Submission 040124-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2120 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 79975040-79990748 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79989846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 8 (T8A)
Ref Sequence ENSEMBL: ENSMUSP00000102991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032747] [ENSMUST00000032748] [ENSMUST00000107368] [ENSMUST00000127997] [ENSMUST00000133728] [ENSMUST00000154428] [ENSMUST00000205531] [ENSMUST00000205768] [ENSMUST00000206074] [ENSMUST00000206089] [ENSMUST00000206122] [ENSMUST00000206480] [ENSMUST00000205744]
AlphaFold Q99KD5
Predicted Effect probably benign
Transcript: ENSMUST00000032747
SMART Domains Protein: ENSMUSP00000032747
Gene: ENSMUSG00000030532

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
HDc 28 136 1.01e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000032748
AA Change: T8A

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000032748
Gene: ENSMUSG00000030533
AA Change: T8A

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
AA Change: T8A

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102991
Gene: ENSMUSG00000030533
AA Change: T8A

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: ENSMUST00000127997
SMART Domains Protein: ENSMUSP00000114428
Gene: ENSMUSG00000030533

DomainStartEndE-ValueType
Pfam:TPR_11 4 74 8.4e-19 PFAM
Pfam:TPR_1 6 36 2.3e-6 PFAM
Pfam:TPR_2 6 37 2.6e-6 PFAM
Pfam:TPR_16 10 82 1e-7 PFAM
Pfam:TPR_1 43 69 4.4e-4 PFAM
Pfam:TPR_2 43 74 3.1e-4 PFAM
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: ENSMUST00000135503
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141774
Predicted Effect probably benign
Transcript: ENSMUST00000154428
AA Change: T8A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119665
Gene: ENSMUSG00000030533
AA Change: T8A

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: ENSMUST00000205531
Predicted Effect probably benign
Transcript: ENSMUST00000206363
Predicted Effect probably benign
Transcript: ENSMUST00000205768
Predicted Effect probably benign
Transcript: ENSMUST00000206559
Predicted Effect probably benign
Transcript: ENSMUST00000206074
Predicted Effect probably benign
Transcript: ENSMUST00000206089
Predicted Effect probably benign
Transcript: ENSMUST00000206122
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145351
Predicted Effect probably benign
Transcript: ENSMUST00000205448
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206494
Predicted Effect probably benign
Transcript: ENSMUST00000206480
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206032
Predicted Effect probably benign
Transcript: ENSMUST00000205744
Meta Mutation Damage Score 0.0703 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (86/86)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,259,013 (GRCm39) probably benign Het
Abcg5 T A 17: 84,978,575 (GRCm39) E294D probably benign Het
Actrt2 C T 4: 154,751,551 (GRCm39) R195Q probably benign Het
Adamts12 C T 15: 11,310,665 (GRCm39) T974I probably damaging Het
Ankrd65 A G 4: 155,876,530 (GRCm39) T239A probably benign Het
Ano7 G T 1: 93,329,855 (GRCm39) probably benign Het
Apc A T 18: 34,409,654 (GRCm39) E198V probably damaging Het
Arhgef10 A G 8: 14,984,820 (GRCm39) D200G probably damaging Het
Atp9a A T 2: 168,495,457 (GRCm39) V583E probably damaging Het
Bicral C T 17: 47,135,741 (GRCm39) A490T probably benign Het
C1rl C T 6: 124,485,672 (GRCm39) P348S probably damaging Het
Cog1 T C 11: 113,540,424 (GRCm39) L13P probably damaging Het
Cx3cr1 T A 9: 119,880,749 (GRCm39) T218S probably damaging Het
Cyp2a12 A G 7: 26,736,071 (GRCm39) *493W probably null Het
Dmd G C X: 83,356,089 (GRCm39) A2257P probably benign Het
E2f4 A G 8: 106,026,973 (GRCm39) Y179C probably damaging Het
Ecel1 A G 1: 87,075,997 (GRCm39) S727P probably damaging Het
Endod1 T C 9: 14,268,949 (GRCm39) N179D probably benign Het
Epc2 C T 2: 49,437,621 (GRCm39) probably benign Het
Ets2 G T 16: 95,519,977 (GRCm39) R401L probably benign Het
Fgd4 C T 16: 16,243,692 (GRCm39) C614Y probably benign Het
Fgf18 A C 11: 33,068,003 (GRCm39) F129C probably damaging Het
Frem3 A T 8: 81,342,086 (GRCm39) T1460S probably benign Het
H2-M1 T G 17: 36,980,929 (GRCm39) T336P possibly damaging Het
Ikbkb T C 8: 23,157,233 (GRCm39) probably benign Het
Ipo7 G T 7: 109,648,838 (GRCm39) D704Y probably damaging Het
Jaml T A 9: 45,012,362 (GRCm39) I283N probably damaging Het
Jarid2 G T 13: 45,059,812 (GRCm39) M681I probably benign Het
Kif4-ps T C 12: 101,113,956 (GRCm39) L695P probably damaging Het
Kmt2d A G 15: 98,737,410 (GRCm39) probably benign Het
Krt25 T C 11: 99,212,023 (GRCm39) T205A probably benign Het
Lif T C 11: 4,219,051 (GRCm39) V110A possibly damaging Het
Ltbp1 T A 17: 75,617,154 (GRCm39) V1031E possibly damaging Het
Ltbr A G 6: 125,286,440 (GRCm39) S249P probably benign Het
Man2b1 A G 8: 85,819,653 (GRCm39) probably benign Het
Med16 A T 10: 79,738,916 (GRCm39) M290K possibly damaging Het
Mov10l1 C A 15: 88,891,830 (GRCm39) Q562K probably benign Het
Msantd2 C T 9: 37,434,227 (GRCm39) R357W probably damaging Het
Mtcl2 T C 2: 156,875,245 (GRCm39) E835G probably damaging Het
Mtmr6 T C 14: 60,534,108 (GRCm39) F449L probably damaging Het
Myt1l A T 12: 29,833,618 (GRCm39) probably null Het
Neb A G 2: 52,154,076 (GRCm39) F2345S probably damaging Het
Nlrp6 T C 7: 140,506,357 (GRCm39) V766A probably benign Het
Or11g27 T C 14: 50,771,403 (GRCm39) I178T probably damaging Het
Or4k36 A G 2: 111,145,844 (GRCm39) T7A probably benign Het
Or6d13 A T 6: 116,517,416 (GRCm39) M1L probably null Het
Or8k22 G A 2: 86,163,689 (GRCm39) R4C probably benign Het
Patj T A 4: 98,344,462 (GRCm39) D591E probably benign Het
Pde6d A G 1: 86,473,524 (GRCm39) F91L probably benign Het
Pitpnm2 G A 5: 124,265,332 (GRCm39) P757L probably damaging Het
Plcd4 A G 1: 74,603,584 (GRCm39) T662A probably benign Het
Podn C T 4: 107,880,558 (GRCm39) A31T probably damaging Het
Prss37 G A 6: 40,492,294 (GRCm39) R186* probably null Het
Psg20 T A 7: 18,414,947 (GRCm39) Y316F probably benign Het
Psmd1 T A 1: 86,006,422 (GRCm39) S263T possibly damaging Het
Pum1 C A 4: 130,396,581 (GRCm39) T112K possibly damaging Het
Rab3gap2 A T 1: 184,993,564 (GRCm39) D782V possibly damaging Het
Rasgrp2 T A 19: 6,454,425 (GRCm39) M156K probably benign Het
Reln G A 5: 22,174,083 (GRCm39) H2007Y probably damaging Het
Rhbdl2 T A 4: 123,718,712 (GRCm39) I222K probably damaging Het
Rimbp2 A G 5: 128,865,582 (GRCm39) S582P probably damaging Het
Rpe T C 1: 66,754,387 (GRCm39) M153T probably damaging Het
Sars1 T C 3: 108,341,472 (GRCm39) I114V probably benign Het
Scamp5 C A 9: 57,354,508 (GRCm39) V49F possibly damaging Het
Sec14l1 C T 11: 117,039,358 (GRCm39) probably benign Het
Serpinb8 A G 1: 107,533,617 (GRCm39) E224G probably damaging Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Slco6c1 C T 1: 96,993,808 (GRCm39) R645H possibly damaging Het
Srgn T A 10: 62,343,413 (GRCm39) probably benign Het
Stk40 C T 4: 126,022,640 (GRCm39) T138I probably benign Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Tada3 T C 6: 113,347,976 (GRCm39) I263V possibly damaging Het
Tas2r106 A T 6: 131,655,317 (GRCm39) L178H probably damaging Het
Tas2r115 T A 6: 132,714,470 (GRCm39) R160S possibly damaging Het
Trak1 T A 9: 121,302,063 (GRCm39) *940R probably null Het
Trp53bp2 A G 1: 182,269,204 (GRCm39) M223V probably benign Het
Ttc21b C T 2: 66,057,098 (GRCm39) V625I probably benign Het
Txnrd1 T A 10: 82,723,067 (GRCm39) C421S possibly damaging Het
Usp6nl T A 2: 6,445,748 (GRCm39) V552E probably damaging Het
Vmn2r115 T G 17: 23,578,297 (GRCm39) L590R probably damaging Het
Vmn2r88 A T 14: 51,650,665 (GRCm39) H126L probably benign Het
Vps13c A G 9: 67,826,616 (GRCm39) D1419G possibly damaging Het
Vwa3a A G 7: 120,391,641 (GRCm39) T776A probably benign Het
Zfp580 T C 7: 5,056,008 (GRCm39) Y123H 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
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
Predicted Primers PCR Primer
(F):5'- CATTTGAACAGCTCGTTGCC -3'
(R):5'- TCCAGTGGGAACAGACTAGG -3'

Sequencing Primer
(F):5'- TGAGCTGGCCTGGAGAG -3'
(R):5'- AACAGACTAGGCGCTCGTG -3'
Posted On 2014-09-18