Incidental Mutation 'IGL02959:Unc45a'
ID365288
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 #IGL02959
Quality Score
Status
Chromosome7
Chromosomal Location80325292-80341005 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) T to G at 80332973 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000032748] [ENSMUST00000107368] [ENSMUST00000133728] [ENSMUST00000154428]
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
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 G T 6: 128,567,060 A506D probably benign Het
Agap1 G T 1: 89,843,191 V635L possibly damaging Het
Akr1c12 T C 13: 4,279,332 K9E probably benign Het
Alms1 T A 6: 85,629,052 Y2561* probably null Het
Atm T C 9: 53,471,418 H1957R probably damaging Het
Bcr T C 10: 75,160,390 F922S probably benign Het
Cfap44 T A 16: 44,470,867 probably benign Het
Chil5 A G 3: 106,019,590 V243A probably damaging Het
Csmd1 A G 8: 15,910,465 C3317R probably damaging Het
Dsc1 T C 18: 20,108,885 K133R probably damaging Het
Ecm1 T A 3: 95,737,677 Q136L probably damaging Het
Fscn3 C A 6: 28,435,998 A431E possibly damaging Het
Gas7 C T 11: 67,674,235 probably benign Het
Gbx2 A G 1: 89,928,795 V291A probably damaging Het
Hipk3 G A 2: 104,471,259 T196M probably damaging Het
Il20ra T A 10: 19,759,041 N343K probably benign Het
Il24 C T 1: 130,885,733 W42* probably null Het
Kif13b A T 14: 64,767,717 I1153F probably damaging Het
Krt2 A T 15: 101,811,328 S636T unknown Het
Olfr1302 T A 2: 111,780,610 C97S probably damaging Het
Olfr215 A T 6: 116,582,544 M134K probably damaging Het
Olfr293 T C 7: 86,664,529 F289S probably damaging Het
Olfr539 C T 7: 140,667,550 P81S probably damaging Het
Olfr739 A T 14: 50,424,932 M138L possibly damaging Het
Osmr T C 15: 6,815,897 D796G possibly damaging Het
Peli2 A T 14: 48,240,297 T99S probably benign Het
Pi4k2a A T 19: 42,113,071 K317N probably benign Het
Pik3r1 T G 13: 101,757,529 D44A probably benign Het
Pkhd1 G T 1: 20,608,416 S96* probably null Het
Plekha5 A G 6: 140,544,178 E9G probably damaging Het
Plekha8 T C 6: 54,615,269 F71S probably damaging Het
Polq G T 16: 37,086,566 L2296F probably damaging Het
Rbm5 G A 9: 107,754,185 probably benign Het
Rc3h2 T C 2: 37,405,354 K217E probably damaging Het
Scrib A G 15: 76,065,207 L350P probably damaging Het
Slc4a10 T A 2: 62,268,143 S540R probably damaging Het
Smc3 G T 19: 53,623,557 V354L probably benign Het
Smurf1 T A 5: 144,899,389 I105F probably damaging Het
Stx7 G T 10: 24,155,349 R17L probably benign Het
Tbca C T 13: 94,842,695 R74C probably benign Het
Tmem92 T C 11: 94,778,678 Q153R possibly damaging Het
Trim41 C A 11: 48,807,480 G553V probably damaging Het
Trim75 A T 8: 64,982,765 N344K possibly damaging Het
Tsr1 A G 11: 74,900,249 D218G probably benign Het
Ubr2 A C 17: 46,975,951 V474G probably damaging Het
Zfp609 C T 9: 65,703,393 A763T 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
IGL02383:Unc45a APN 7 80339662 nonsense probably null
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 On2015-12-18