Incidental Mutation 'IGL02383:Unc45a'
ID291463
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Unc45a
Ensembl Gene ENSMUSG00000030533
Gene Nameunc-45 myosin chaperone A
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02383
Quality Score
Status
Chromosome7
Chromosomal Location80325292-80341005 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 80339662 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 34 (C34*)
Ref Sequence ENSEMBL: ENSMUSP00000119665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032747] [ENSMUST00000032748] [ENSMUST00000107368] [ENSMUST00000127997] [ENSMUST00000133728] [ENSMUST00000154428] [ENSMUST00000205531] [ENSMUST00000205744] [ENSMUST00000205768] [ENSMUST00000206074] [ENSMUST00000206089] [ENSMUST00000206122] [ENSMUST00000206480]
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 null
Transcript: ENSMUST00000032748
AA Change: C34*
SMART Domains Protein: ENSMUSP00000032748
Gene: ENSMUSG00000030533
AA Change: C34*

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 null
Transcript: ENSMUST00000107368
AA Change: C34*
SMART Domains Protein: ENSMUSP00000102991
Gene: ENSMUSG00000030533
AA Change: C34*

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 null
Transcript: ENSMUST00000127997
AA Change: C19*
SMART Domains Protein: ENSMUSP00000114428
Gene: ENSMUSG00000030533
AA Change: C19*

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 null
Transcript: ENSMUST00000133728
AA Change: C19*
SMART Domains Protein: ENSMUSP00000123399
Gene: ENSMUSG00000030533
AA Change: C19*

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 noncoding transcript
Transcript: ENSMUST00000145351
Predicted Effect probably null
Transcript: ENSMUST00000154428
AA Change: C34*
SMART Domains Protein: ENSMUSP00000119665
Gene: ENSMUSG00000030533
AA Change: C34*

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: ENSMUST00000205448
Predicted Effect probably benign
Transcript: ENSMUST00000205531
Predicted Effect probably benign
Transcript: ENSMUST00000205744
Predicted Effect probably benign
Transcript: ENSMUST00000205768
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206032
Predicted Effect probably benign
Transcript: ENSMUST00000206074
Predicted Effect probably benign
Transcript: ENSMUST00000206089
Predicted Effect probably benign
Transcript: ENSMUST00000206122
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206494
Predicted Effect probably benign
Transcript: ENSMUST00000206559
Predicted Effect probably benign
Transcript: ENSMUST00000206480
Predicted Effect probably benign
Transcript: ENSMUST00000206363
Coding Region Coverage
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik T C 6: 133,292,242 probably benign Het
Adap2 C A 11: 80,160,189 A115D probably damaging Het
Ankrd1 A G 19: 36,119,765 V6A probably benign Het
Apobr T A 7: 126,586,607 V430E probably benign Het
Apopt1 T A 12: 111,724,413 probably benign Het
Arhgap28 A G 17: 67,896,089 V123A probably benign Het
Atp2b2 A G 6: 113,813,942 V167A probably damaging Het
B3galnt2 A T 13: 13,997,033 *505C probably null Het
Bcat2 T A 7: 45,588,007 L305Q probably damaging Het
Col9a1 T C 1: 24,185,258 S174P unknown Het
Ddx41 A T 13: 55,532,357 D418E probably benign Het
Exoc6 T C 19: 37,578,474 F240L probably benign Het
Fbln7 G A 2: 128,895,557 V431I probably benign Het
Gfral T A 9: 76,197,092 N213Y probably damaging Het
Gm15292 A G 8: 21,250,361 D61G probably damaging Het
Golgb1 A G 16: 36,886,200 D22G probably benign Het
H2-M1 G A 17: 36,670,249 T298I unknown Het
Haus3 A T 5: 34,166,236 Y343* probably null Het
Hid1 T C 11: 115,352,620 E534G probably damaging Het
Il4ra T C 7: 125,571,504 V196A probably benign Het
Itm2b C A 14: 73,363,096 E255* probably null Het
Kidins220 A T 12: 24,997,333 probably benign Het
Klhl22 T A 16: 17,776,898 F297Y possibly damaging Het
Krt9 T C 11: 100,191,215 E253G probably damaging Het
Man2a2 G A 7: 80,359,640 A822V probably damaging Het
Map3k6 T A 4: 133,246,621 probably null Het
Med29 C A 7: 28,387,023 R120L possibly damaging Het
Napa C T 7: 16,112,578 probably benign Het
Ncapd3 T A 9: 27,050,328 Y351N probably benign Het
Nphs1 C T 7: 30,481,635 probably benign Het
Olfr1442 A G 19: 12,674,535 D110G probably benign Het
Prss16 T C 13: 22,009,527 I33V probably benign Het
Ripk1 A G 13: 34,015,244 Y193C probably damaging Het
Rph3a C T 5: 120,963,939 R78H probably damaging Het
Rrp9 T A 9: 106,485,272 I452N probably damaging Het
Ryr2 A T 13: 11,722,721 probably benign Het
Sec23a A G 12: 59,002,027 L103P probably damaging Het
Slc17a9 A C 2: 180,735,881 D190A probably benign Het
Slc44a4 G A 17: 34,927,710 V422I probably benign Het
Smc5 C T 19: 23,214,632 probably benign Het
Tax1bp1 C T 6: 52,753,366 S611F probably benign Het
Tmem38b G A 4: 53,854,345 M192I probably benign Het
Usp46 T A 5: 74,029,353 M6L probably benign Het
Uspl1 G A 5: 149,213,402 V471M probably damaging Het
Vmn1r35 T A 6: 66,678,891 Q265L probably damaging Het
Vmn1r35 G T 6: 66,678,892 Q265K probably damaging Het
Vmn1r50 A G 6: 90,107,479 I69V possibly damaging Het
Vps33b A G 7: 80,285,334 probably null Het
Xntrpc A C 7: 102,093,595 D604A probably damaging Het
Yeats4 T A 10: 117,215,811 R180S probably benign Het
Other mutations in Unc45a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02252:Unc45a APN 7 80332969 intron probably benign
IGL02266:Unc45a APN 7 80328486 missense probably damaging 0.96
IGL02959:Unc45a APN 7 80332973 intron probably benign
IGL03168:Unc45a APN 7 80333133 missense probably damaging 1.00
PIT4131001:Unc45a UTSW 7 80326361 missense possibly damaging 0.74
R0095:Unc45a UTSW 7 80329543 missense probably damaging 1.00
R0095:Unc45a UTSW 7 80329543 missense probably damaging 1.00
R0276:Unc45a UTSW 7 80326297 intron probably benign
R0373:Unc45a UTSW 7 80326344 missense probably damaging 0.97
R1827:Unc45a UTSW 7 80331740 missense possibly damaging 0.77
R2120:Unc45a UTSW 7 80340098 missense probably benign 0.29
R2440:Unc45a UTSW 7 80329057 missense probably damaging 1.00
R2442:Unc45a UTSW 7 80339669 missense probably damaging 1.00
R2508:Unc45a UTSW 7 80338875 missense probably benign
R3077:Unc45a UTSW 7 80338932 missense probably damaging 0.97
R3108:Unc45a UTSW 7 80331546 intron probably benign
R3109:Unc45a UTSW 7 80331546 intron probably benign
R3620:Unc45a UTSW 7 80334051 missense possibly damaging 0.84
R4471:Unc45a UTSW 7 80332980 missense possibly damaging 0.94
R4644:Unc45a UTSW 7 80328509 missense probably damaging 1.00
R4651:Unc45a UTSW 7 80333029 missense possibly damaging 0.93
R4838:Unc45a UTSW 7 80333035 missense probably damaging 1.00
R5234:Unc45a UTSW 7 80328799 missense probably benign 0.17
R5452:Unc45a UTSW 7 80329039 missense probably damaging 1.00
R5574:Unc45a UTSW 7 80334856 missense probably damaging 0.98
R5750:Unc45a UTSW 7 80334823 missense probably benign 0.17
R6169:Unc45a UTSW 7 80328763 missense possibly damaging 0.92
R6417:Unc45a UTSW 7 80339652 missense probably benign 0.04
R6420:Unc45a UTSW 7 80339652 missense probably benign 0.04
R6486:Unc45a UTSW 7 80339652 missense probably benign 0.04
R6533:Unc45a UTSW 7 80334069 missense probably damaging 1.00
R6734:Unc45a UTSW 7 80336998 missense probably damaging 1.00
R6993:Unc45a UTSW 7 80325655 missense probably damaging 1.00
R7085:Unc45a UTSW 7 80326334 missense possibly damaging 0.87
R7180:Unc45a UTSW 7 80329821 splice site probably null
R7561:Unc45a UTSW 7 80331586 missense possibly damaging 0.63
R8079:Unc45a UTSW 7 80331562 missense probably damaging 1.00
R8395:Unc45a UTSW 7 80326332 missense probably benign 0.08
R8547:Unc45a UTSW 7 80326092 missense possibly damaging 0.76
Posted On2015-04-16