Mutagenetix > Incidental Mutation

Incidental Mutation 'R8079:Unc45a'

629205

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 #

R8079 (G1)

Quality Score

203.009

Status

Not validated

Chromosome

Chromosomal Location

80325292-80341005 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 80331562 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 497 (R497S)

Ref Sequence

ENSEMBL: ENSMUSP00000032748 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032748] [ENSMUST00000107368] [ENSMUST00000133728] [ENSMUST00000154428]

AlphaFold

Q99KD5

Predicted Effect

probably damaging
Transcript: ENSMUST00000032748
AA Change: R497S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032748
Gene: ENSMUSG00000030533
AA Change: R497S

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 damaging
Transcript: ENSMUST00000107368
AA Change: R497S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102991
Gene: ENSMUSG00000030533
AA Change: R497S

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: ENSMUST00000133728

SMART Domains

Protein: ENSMUSP00000123399
Gene: ENSMUSG00000030533

Domain	Start	End	E-Value	Type
TPR	6	39	9.53e-2	SMART
TPR	43	76	5.48e-2	SMART
TPR	77	110	7.45e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000154428
AA Change: R497S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119665
Gene: ENSMUSG00000030533
AA Change: R497S

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

probably benign
Transcript: ENSMUST00000206363

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.0%
20x: 96.5%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	A	G	5: 124,083,123	I255T	possibly damaging	Het
Ablim1	A	T	19: 57,182,224		probably null	Het
Akap10	G	A	11: 61,930,054	P8L	possibly damaging	Het
Ankle2	C	T	5: 110,231,316	A27V	probably damaging	Het
Anxa8	A	G	14: 34,094,812	T246A	probably benign	Het
Arhgap5	A	G	12: 52,567,205	N1460S	probably benign	Het
Arid5b	T	G	10: 68,098,356	D572A	possibly damaging	Het
Atrn	T	A	2: 131,013,641	L1278Q	probably null	Het
AU040320	G	T	4: 126,832,160	K454N	possibly damaging	Het
Baz2b	T	A	2: 59,900,768	R2085W	probably damaging	Het
Bbx	A	T	16: 50,210,458	N649K	probably damaging	Het
BC034090	G	A	1: 155,225,286	P411S	probably damaging	Het
Calcoco2	A	T	11: 96,107,537	F20Y	probably damaging	Het
Carmil2	A	G	8: 105,686,761	R50G	probably damaging	Het
Catspere2	A	G	1: 178,046,959	T131A	probably benign	Het
Cdcp1	C	A	9: 123,173,790	V739L	probably damaging	Het
Chit1	A	G	1: 134,144,027	T92A	possibly damaging	Het
Clstn3	A	G	6: 124,459,804	I185T	probably damaging	Het
Dctpp1	C	A	7: 127,259,389	V61L	probably damaging	Het
Dip2a	T	C	10: 76,287,321	T760A	probably benign	Het
Dock10	C	T	1: 80,578,704	V552I	probably benign	Het
Dpcr1	T	C	17: 35,638,192	T172A	unknown	Het
Dpp8	A	G	9: 65,043,735	E151G	probably damaging	Het
Dvl2	G	C	11: 70,007,518	R367P	possibly damaging	Het
Fem1b	A	T	9: 62,796,361	I539N	probably damaging	Het
Frat2	A	T	19: 41,847,838	L25H	probably damaging	Het
Garnl3	A	T	2: 33,018,499		probably null	Het
Gh	T	C	11: 106,301,427	H47R	possibly damaging	Het
Glmp	T	C	3: 88,325,738	V61A	probably damaging	Het
Gm6614	T	G	6: 141,987,734	M462L	probably benign	Het
Gm9925	T	C	18: 74,065,487	V129A	unknown	Het
H2-M9	T	A	17: 36,642,133	E94V	probably benign	Het
Hira	A	T	16: 18,925,757	Q408L	probably benign	Het
Hook3	A	G	8: 26,088,058		probably null	Het
Ifi206	G	A	1: 173,481,158	P424L		Het
Impdh2	T	C	9: 108,563,325	V270A	probably benign	Het
Klhl14	A	G	18: 21,651,965	I135T	probably benign	Het
Klra10	C	A	6: 130,275,775	V179L	probably benign	Het
Kmt2c	T	C	5: 25,302,732	S3236G	probably damaging	Het
Krt76	G	T	15: 101,888,390	A358D	possibly damaging	Het
Lacc1	C	A	14: 77,029,552	G424C	probably damaging	Het
Limch1	A	G	5: 67,046,753	I878V	possibly damaging	Het
Lipi	C	T	16: 75,565,530		probably null	Het
Lrrc17	C	T	5: 21,561,071	R184W	probably damaging	Het
Mllt10	A	G	2: 18,123,756	N183D	probably damaging	Het
Mterf2	C	T	10: 85,120,163	G199D	probably damaging	Het
Nat8f4	A	T	6: 85,900,994	S182R	probably benign	Het
Ndrg3	C	A	2: 156,937,532	E238*	probably null	Het
Nop14	A	T	5: 34,654,461	L194H	probably damaging	Het
Obscn	T	C	11: 59,081,905	E2105G	possibly damaging	Het
Olfr1009	A	T	2: 85,722,043	T213S	probably benign	Het
Olfr1079	T	A	2: 86,538,381	H176L	possibly damaging	Het
Olfr1457	A	C	19: 13,095,284	Y121*	probably null	Het
Olfr829	A	T	9: 18,857,429	Y259F	possibly damaging	Het
Pbx3	C	T	2: 34,178,228	A320T	probably benign	Het
Pcdhac2	A	T	18: 37,146,144	S726C	probably damaging	Het
Pcdhgb2	A	G	18: 37,690,763	D269G	probably damaging	Het
Pcgf6	A	T	19: 47,045,832	S257T	probably damaging	Het
Pclo	A	T	5: 14,540,458	H924L	unknown	Het
Per3	T	A	4: 151,042,678	T129S	possibly damaging	Het
Pi4ka	A	T	16: 17,303,060	M1270K		Het
Plec	G	A	15: 76,179,550	Q2277*	probably null	Het
Pnma1	T	A	12: 84,147,335	K198M	probably damaging	Het
Prc1	T	A	7: 80,304,767	F196L	possibly damaging	Het
Prkcz	T	C	4: 155,357,505	T57A	probably damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Robo4	A	G	9: 37,402,635	M61V	possibly damaging	Het
Rps12	C	T	10: 23,785,677	V79I	probably benign	Het
Rsph3a	A	G	17: 7,979,188	K466E	probably benign	Het
Scly	A	T	1: 91,308,367	I168F	probably damaging	Het
Setd1a	T	A	7: 127,785,053	F359I	unknown	Het
Sh3tc1	A	G	5: 35,706,857	L662P	possibly damaging	Het
Slc12a5	T	C	2: 164,992,452	W798R	probably damaging	Het
Slc16a6	C	T	11: 109,473,455	R13Q	unknown	Het
Smarcad1	A	G	6: 65,052,782	D118G	possibly damaging	Het
Sos2	T	C	12: 69,607,215	T788A	probably damaging	Het
Syvn1	A	G	19: 6,048,366	E75G	probably null	Het
Thpo	T	C	16: 20,726,394	E103G	probably benign	Het
Trav7d-3	A	T	14: 52,744,736	E78V	possibly damaging	Het
Uap1	A	G	1: 170,158,763	S217P	probably damaging	Het
Upf1	A	G	8: 70,338,884		probably null	Het
Usp47	A	T	7: 112,046,970	K28M	probably damaging	Het
Wdr72	A	C	9: 74,218,772	T1062P	probably damaging	Het
Wnt7b	A	T	15: 85,537,445	C339S	probably damaging	Het
Zfp954	G	T	7: 7,115,471	T358K	probably benign	Het
Zmynd15	G	T	11: 70,459,452		probably benign	Het

Other mutations in Unc45a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R8395:Unc45a	UTSW	7	80326332	missense	probably benign	0.08
R8547:Unc45a	UTSW	7	80326092	missense	possibly damaging	0.76
R9620:Unc45a	UTSW	7	80325655	missense	probably damaging	1.00
R9621:Unc45a	UTSW	7	80334037	missense	probably damaging	1.00
R9694:Unc45a	UTSW	7	80325655	missense	probably damaging	1.00
R9728:Unc45a	UTSW	7	80328700	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ACAGGCCTTTCTAACCAGC -3'
(R):5'- GTCATGGAGAGCGTGATAGC -3'

Sequencing Primer
(F):5'- TGAGGCAGCGTACATTCCTAG -3'
(R):5'- AGCGTGATAGCTCTGTGC -3'

Posted On

2020-06-30