Mutagenetix > Incidental Mutation

Incidental Mutation 'R0276:Unc45a'

35369

Institutional Source

Beutler Lab

Gene Symbol

Unc45a

Ensembl Gene

ENSMUSG00000030533

Gene Name

unc-45 myosin chaperone A

Synonyms

MMRRC Submission

038498-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0276 (G1)

Quality Score

185

Status

Validated

Chromosome

Chromosomal Location

80325292-80341005 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 80326297 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032748] [ENSMUST00000047362] [ENSMUST00000107368] [ENSMUST00000121882] [ENSMUST00000123189] [ENSMUST00000154428]

AlphaFold

Q99KD5

Predicted Effect

probably benign
Transcript: ENSMUST00000032748

SMART Domains

Protein: ENSMUSP00000032748
Gene: ENSMUSG00000030533

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000107368

SMART Domains

Protein: ENSMUSP00000102991
Gene: ENSMUSG00000030533

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: ENSMUST00000134288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148001

Predicted Effect

probably benign
Transcript: ENSMUST00000154428

SMART Domains

Protein: ENSMUSP00000119665
Gene: ENSMUSG00000030533

Domain	Start	End	E-Value	Type
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: ENSMUST00000155124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205863

Predicted Effect

probably benign
Transcript: ENSMUST00000206363

Coding Region Coverage

1x: 98.7%
3x: 97.8%
10x: 96.2%
20x: 93.8%

Validation Efficiency

98% (101/103)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	A	G	2: 26,975,760 (GRCm38)	N109S	possibly damaging	Het
Adcy10	T	A	1: 165,572,591 (GRCm38)	M1523K	possibly damaging	Het
Agtpbp1	C	T	13: 59,462,031 (GRCm38)	S1095N	possibly damaging	Het
Ang2	C	T	14: 51,195,518 (GRCm38)	V136I	probably damaging	Het
Arhgap10	A	T	8: 77,413,581 (GRCm38)	M250K	probably benign	Het
Arhgap33	A	T	7: 30,523,244 (GRCm38)	W1088R	probably benign	Het
Arhgef15	T	C	11: 68,953,472 (GRCm38)		probably benign	Het
Aspm	T	C	1: 139,478,471 (GRCm38)	S1699P	possibly damaging	Het
Atp12a	C	A	14: 56,387,694 (GRCm38)	D1014E	probably damaging	Het
Atp1a4	T	A	1: 172,257,901 (GRCm38)	K45M	probably damaging	Het
Atp8a1	A	T	5: 67,786,673 (GRCm38)		probably benign	Het
Baiap3	A	C	17: 25,243,687 (GRCm38)	F1099C	probably damaging	Het
Bcas3	T	A	11: 85,470,837 (GRCm38)		probably null	Het
Bms1	G	A	6: 118,408,134 (GRCm38)	T371M	possibly damaging	Het
Camta1	C	A	4: 151,075,140 (GRCm38)	R1614L	probably damaging	Het
Capn3	T	C	2: 120,488,065 (GRCm38)		probably benign	Het
Ccdc180	A	G	4: 45,923,534 (GRCm38)	D1105G	probably damaging	Het
Ccdc33	G	T	9: 58,058,392 (GRCm38)	P364Q	probably damaging	Het
Ccdc36	A	T	9: 108,428,440 (GRCm38)	M11K	possibly damaging	Het
Clstn3	A	G	6: 124,431,740 (GRCm38)		probably benign	Het
Cntrl	A	T	2: 35,151,732 (GRCm38)	Y619F	possibly damaging	Het
Col12a1	A	T	9: 79,630,741 (GRCm38)	Y2514*	probably null	Het
Cpt1b	T	C	15: 89,419,959 (GRCm38)	H503R	probably benign	Het
Crb1	T	A	1: 139,323,335 (GRCm38)	T293S	possibly damaging	Het
D130043K22Rik	C	T	13: 24,858,045 (GRCm38)	T319I	possibly damaging	Het
Dzip1l	G	A	9: 99,660,998 (GRCm38)	R502Q	probably benign	Het
Efcab5	G	A	11: 77,140,923 (GRCm38)	R42W	probably damaging	Het
Efcab5	A	G	11: 77,129,876 (GRCm38)	M673T	probably damaging	Het
F2rl3	A	G	8: 72,762,798 (GRCm38)	T218A	probably benign	Het
Fam135a	C	T	1: 24,067,964 (GRCm38)	R31H	probably damaging	Het
Fam84b	G	T	15: 60,823,674 (GRCm38)	Y74*	probably null	Het
Fcer2a	A	T	8: 3,689,811 (GRCm38)	N53K	possibly damaging	Het
Gm14085	T	A	2: 122,521,928 (GRCm38)	S389T	probably damaging	Het
Golgb1	A	C	16: 36,913,876 (GRCm38)	K1162Q	probably damaging	Het
Gpr137b	A	T	13: 13,367,575 (GRCm38)		probably benign	Het
Haspin	A	T	11: 73,136,487 (GRCm38)	L592Q	probably damaging	Het
Helq	A	G	5: 100,790,147 (GRCm38)	F478L	probably damaging	Het
Il17rb	T	A	14: 30,004,380 (GRCm38)	T84S	probably damaging	Het
Itga4	T	C	2: 79,321,493 (GRCm38)	L880P	probably damaging	Het
Itih5	A	G	2: 10,185,564 (GRCm38)	I61V	possibly damaging	Het
Ivl	G	A	3: 92,571,514 (GRCm38)	L415F	unknown	Het
Kif2a	A	G	13: 106,976,650 (GRCm38)		probably benign	Het
Kmt2d	T	C	15: 98,850,311 (GRCm38)		probably benign	Het
Lars2	A	G	9: 123,438,121 (GRCm38)		probably benign	Het
Lilrb4a	T	C	10: 51,491,581 (GRCm38)	V73A	probably benign	Het
Lrrc8a	A	G	2: 30,256,788 (GRCm38)	D538G	possibly damaging	Het
Lrrk1	G	A	7: 66,296,263 (GRCm38)		probably benign	Het
Mc2r	A	T	18: 68,408,132 (GRCm38)	I30K	possibly damaging	Het
Mybbp1a	C	A	11: 72,450,107 (GRCm38)		probably null	Het
Napg	C	T	18: 62,986,963 (GRCm38)	R149C	probably damaging	Het
Ncam2	A	G	16: 81,517,629 (GRCm38)		probably benign	Het
Nlk	T	C	11: 78,571,475 (GRCm38)	I509V	probably benign	Het
Nlrp2	A	T	7: 5,328,109 (GRCm38)	N429K	probably benign	Het
Nlrp9b	A	G	7: 20,028,498 (GRCm38)	T247A	probably benign	Het
Noxo1	A	T	17: 24,700,162 (GRCm38)		probably null	Het
Olfr1212	T	A	2: 88,958,755 (GRCm38)	C96*	probably null	Het
Olfr139	A	G	11: 74,045,118 (GRCm38)	I52T	probably damaging	Het
Olfr353	A	T	2: 36,890,023 (GRCm38)	M275K	probably benign	Het
Olfr701	A	T	7: 106,818,697 (GRCm38)	I205L	probably benign	Het
Olfr734	C	A	14: 50,320,179 (GRCm38)	A219S	probably benign	Het
Oxr1	T	C	15: 41,820,062 (GRCm38)	S294P	probably damaging	Het
Pfpl	A	G	19: 12,429,237 (GRCm38)	Y284C	probably damaging	Het
Pi16	A	T	17: 29,326,943 (GRCm38)	T232S	probably benign	Het
Plcxd2	A	T	16: 46,009,707 (GRCm38)	N50K	probably benign	Het
Plekhn1	T	A	4: 156,228,246 (GRCm38)	N52Y	probably damaging	Het
Prl2c5	T	C	13: 13,183,049 (GRCm38)		probably benign	Het
Prrc2b	G	A	2: 32,219,654 (GRCm38)	V1080I	probably damaging	Het
Psg28	A	T	7: 18,430,396 (GRCm38)	N130K	probably benign	Het
Psme4	C	A	11: 30,811,980 (GRCm38)	T440K	probably damaging	Het
Ptcd2	T	C	13: 99,321,596 (GRCm38)	K296E	probably benign	Het
Ptprq	T	C	10: 107,542,735 (GRCm38)		probably null	Het
Rab5b	A	C	10: 128,686,746 (GRCm38)		probably null	Het
Rft1	T	A	14: 30,690,583 (GRCm38)	S534T	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324 (GRCm38)		probably benign	Het
Rsu1	A	T	2: 13,170,135 (GRCm38)		probably benign	Het
Senp6	A	G	9: 80,136,747 (GRCm38)	M887V	probably benign	Het
Sgcz	T	A	8: 37,952,919 (GRCm38)	M60L	probably benign	Het
Siglec1	G	A	2: 131,083,941 (GRCm38)	Q282*	probably null	Het
Sipa1l2	T	C	8: 125,421,940 (GRCm38)	T1655A	probably damaging	Het
Slc43a3	G	A	2: 84,937,663 (GRCm38)		probably benign	Het
Snx29	T	C	16: 11,738,373 (GRCm38)	V756A	probably benign	Het
Spta1	T	A	1: 174,217,894 (GRCm38)	H1539Q	probably damaging	Het
Stk3	A	C	15: 35,099,469 (GRCm38)	S104A	probably damaging	Het
Stk38	C	A	17: 28,992,416 (GRCm38)		probably null	Het
Stx6	T	C	1: 155,174,163 (GRCm38)		probably benign	Het
Thbs4	G	A	13: 92,775,532 (GRCm38)	T230I	probably benign	Het
Thrsp	A	G	7: 97,417,502 (GRCm38)	M1T	probably null	Het
Tmem63b	A	T	17: 45,675,373 (GRCm38)		probably benign	Het
Top2a	A	G	11: 99,009,907 (GRCm38)		probably benign	Het
Tpd52l2	T	C	2: 181,502,059 (GRCm38)		probably null	Het
Trak1	A	G	9: 121,454,338 (GRCm38)	E390G	probably damaging	Het
Trappc3	T	A	4: 126,273,952 (GRCm38)	D101E	possibly damaging	Het
Trhr	A	G	15: 44,197,086 (GRCm38)	M1V	probably null	Het
Triobp	T	A	15: 78,973,676 (GRCm38)	I1159K	probably benign	Het
Usb1	A	G	8: 95,333,457 (GRCm38)	D12G	probably damaging	Het
Ushbp1	C	T	8: 71,394,649 (GRCm38)	C113Y	possibly damaging	Het
Vim	A	G	2: 13,574,859 (GRCm38)	K143R	probably benign	Het
Vmn2r75	T	C	7: 86,148,307 (GRCm38)	K766R	probably benign	Het
Wdr92	T	C	11: 17,229,821 (GRCm38)	I274T	probably benign	Het
Xpo5	T	G	17: 46,241,507 (GRCm38)	C1089G	probably damaging	Het

Other mutations in Unc45a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02252:Unc45a	APN	7	80,332,969 (GRCm38)	intron	probably benign
IGL02266:Unc45a	APN	7	80,328,486 (GRCm38)	missense	probably damaging	0.96
IGL02383:Unc45a	APN	7	80,339,662 (GRCm38)	nonsense	probably null
IGL02959:Unc45a	APN	7	80,332,973 (GRCm38)	intron	probably benign
IGL03168:Unc45a	APN	7	80,333,133 (GRCm38)	missense	probably damaging	1.00
PIT4131001:Unc45a	UTSW	7	80,326,361 (GRCm38)	missense	possibly damaging	0.74
R0095:Unc45a	UTSW	7	80,329,543 (GRCm38)	missense	probably damaging	1.00
R0095:Unc45a	UTSW	7	80,329,543 (GRCm38)	missense	probably damaging	1.00
R0373:Unc45a	UTSW	7	80,326,344 (GRCm38)	missense	probably damaging	0.97
R1827:Unc45a	UTSW	7	80,331,740 (GRCm38)	missense	possibly damaging	0.77
R2120:Unc45a	UTSW	7	80,340,098 (GRCm38)	missense	probably benign	0.29
R2440:Unc45a	UTSW	7	80,329,057 (GRCm38)	missense	probably damaging	1.00
R2442:Unc45a	UTSW	7	80,339,669 (GRCm38)	missense	probably damaging	1.00
R2508:Unc45a	UTSW	7	80,338,875 (GRCm38)	missense	probably benign
R3077:Unc45a	UTSW	7	80,338,932 (GRCm38)	missense	probably damaging	0.97
R3108:Unc45a	UTSW	7	80,331,546 (GRCm38)	intron	probably benign
R3109:Unc45a	UTSW	7	80,331,546 (GRCm38)	intron	probably benign
R3620:Unc45a	UTSW	7	80,334,051 (GRCm38)	missense	possibly damaging	0.84
R4471:Unc45a	UTSW	7	80,332,980 (GRCm38)	missense	possibly damaging	0.94
R4644:Unc45a	UTSW	7	80,328,509 (GRCm38)	missense	probably damaging	1.00
R4651:Unc45a	UTSW	7	80,333,029 (GRCm38)	missense	possibly damaging	0.93
R4838:Unc45a	UTSW	7	80,333,035 (GRCm38)	missense	probably damaging	1.00
R5234:Unc45a	UTSW	7	80,328,799 (GRCm38)	missense	probably benign	0.17
R5452:Unc45a	UTSW	7	80,329,039 (GRCm38)	missense	probably damaging	1.00
R5574:Unc45a	UTSW	7	80,334,856 (GRCm38)	missense	probably damaging	0.98
R5750:Unc45a	UTSW	7	80,334,823 (GRCm38)	missense	probably benign	0.17
R6169:Unc45a	UTSW	7	80,328,763 (GRCm38)	missense	possibly damaging	0.92
R6417:Unc45a	UTSW	7	80,339,652 (GRCm38)	missense	probably benign	0.04
R6420:Unc45a	UTSW	7	80,339,652 (GRCm38)	missense	probably benign	0.04
R6486:Unc45a	UTSW	7	80,339,652 (GRCm38)	missense	probably benign	0.04
R6533:Unc45a	UTSW	7	80,334,069 (GRCm38)	missense	probably damaging	1.00
R6734:Unc45a	UTSW	7	80,336,998 (GRCm38)	missense	probably damaging	1.00
R6993:Unc45a	UTSW	7	80,325,655 (GRCm38)	missense	probably damaging	1.00
R7085:Unc45a	UTSW	7	80,326,334 (GRCm38)	missense	possibly damaging	0.87
R7180:Unc45a	UTSW	7	80,329,821 (GRCm38)	splice site	probably null
R7561:Unc45a	UTSW	7	80,331,586 (GRCm38)	missense	possibly damaging	0.63
R8079:Unc45a	UTSW	7	80,331,562 (GRCm38)	missense	probably damaging	1.00
R8395:Unc45a	UTSW	7	80,326,332 (GRCm38)	missense	probably benign	0.08
R8547:Unc45a	UTSW	7	80,326,092 (GRCm38)	missense	possibly damaging	0.76
R9620:Unc45a	UTSW	7	80,325,655 (GRCm38)	missense	probably damaging	1.00
R9621:Unc45a	UTSW	7	80,334,037 (GRCm38)	missense	probably damaging	1.00
R9694:Unc45a	UTSW	7	80,325,655 (GRCm38)	missense	probably damaging	1.00
R9728:Unc45a	UTSW	7	80,328,700 (GRCm38)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGTACAGCACCAGCAGCTTCAG -3'
(R):5'- GTTCCTAACCAGCACAGCAGAGTC -3'

Sequencing Primer
(F):5'- AGCTTCAGCCGGTCATTG -3'
(R):5'- CACCTATGGATATGGAGACTCTGG -3'

Posted On

2013-05-09