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

79975040-79990748 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 79981310 bp (GRCm39)

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: 124,221,186 (GRCm39)	I255T	possibly damaging	Het
Ablim1	A	T	19: 57,170,656 (GRCm39)		probably null	Het
Akap10	G	A	11: 61,820,880 (GRCm39)	P8L	possibly damaging	Het
Ankle2	C	T	5: 110,379,182 (GRCm39)	A27V	probably damaging	Het
Anxa8	A	G	14: 33,816,769 (GRCm39)	T246A	probably benign	Het
Arhgap5	A	G	12: 52,613,988 (GRCm39)	N1460S	probably benign	Het
Arid5b	T	G	10: 67,934,186 (GRCm39)	D572A	possibly damaging	Het
Atrn	T	A	2: 130,855,561 (GRCm39)	L1278Q	probably null	Het
AU040320	G	T	4: 126,725,953 (GRCm39)	K454N	possibly damaging	Het
Baz2b	T	A	2: 59,731,112 (GRCm39)	R2085W	probably damaging	Het
Bbx	A	T	16: 50,030,821 (GRCm39)	N649K	probably damaging	Het
BC034090	G	A	1: 155,101,032 (GRCm39)	P411S	probably damaging	Het
Calcoco2	A	T	11: 95,998,363 (GRCm39)	F20Y	probably damaging	Het
Carmil2	A	G	8: 106,413,393 (GRCm39)	R50G	probably damaging	Het
Catspere2	A	G	1: 177,874,525 (GRCm39)	T131A	probably benign	Het
Cdcp1	C	A	9: 123,002,855 (GRCm39)	V739L	probably damaging	Het
Chit1	A	G	1: 134,071,765 (GRCm39)	T92A	possibly damaging	Het
Clstn3	A	G	6: 124,436,763 (GRCm39)	I185T	probably damaging	Het
Dctpp1	C	A	7: 126,858,561 (GRCm39)	V61L	probably damaging	Het
Dip2a	T	C	10: 76,123,155 (GRCm39)	T760A	probably benign	Het
Dock10	C	T	1: 80,556,421 (GRCm39)	V552I	probably benign	Het
Dpp8	A	G	9: 64,951,017 (GRCm39)	E151G	probably damaging	Het
Dvl2	G	C	11: 69,898,344 (GRCm39)	R367P	possibly damaging	Het
Fem1b	A	T	9: 62,703,643 (GRCm39)	I539N	probably damaging	Het
Frat2	A	T	19: 41,836,277 (GRCm39)	L25H	probably damaging	Het
Garnl3	A	T	2: 32,908,511 (GRCm39)		probably null	Het
Gh	T	C	11: 106,192,253 (GRCm39)	H47R	possibly damaging	Het
Glmp	T	C	3: 88,233,045 (GRCm39)	V61A	probably damaging	Het
Gm9925	T	C	18: 74,198,558 (GRCm39)	V129A	unknown	Het
H2-M9	T	A	17: 36,953,025 (GRCm39)	E94V	probably benign	Het
Hira	A	T	16: 18,744,507 (GRCm39)	Q408L	probably benign	Het
Hook3	A	G	8: 26,578,086 (GRCm39)		probably null	Het
Ifi206	G	A	1: 173,308,724 (GRCm39)	P424L		Het
Impdh2	T	C	9: 108,440,524 (GRCm39)	V270A	probably benign	Het
Klhl14	A	G	18: 21,785,022 (GRCm39)	I135T	probably benign	Het
Klra10	C	A	6: 130,252,738 (GRCm39)	V179L	probably benign	Het
Kmt2c	T	C	5: 25,507,730 (GRCm39)	S3236G	probably damaging	Het
Krt76	G	T	15: 101,796,825 (GRCm39)	A358D	possibly damaging	Het
Lacc1	C	A	14: 77,266,992 (GRCm39)	G424C	probably damaging	Het
Limch1	A	G	5: 67,204,096 (GRCm39)	I878V	possibly damaging	Het
Lipi	C	T	16: 75,362,418 (GRCm39)		probably null	Het
Lrrc17	C	T	5: 21,766,069 (GRCm39)	R184W	probably damaging	Het
Mllt10	A	G	2: 18,128,567 (GRCm39)	N183D	probably damaging	Het
Mterf2	C	T	10: 84,956,027 (GRCm39)	G199D	probably damaging	Het
Mucl3	T	C	17: 35,949,084 (GRCm39)	T172A	unknown	Het
Nat8f4	A	T	6: 85,877,976 (GRCm39)	S182R	probably benign	Het
Ndrg3	C	A	2: 156,779,452 (GRCm39)	E238*	probably null	Het
Nop14	A	T	5: 34,811,805 (GRCm39)	L194H	probably damaging	Het
Obscn	T	C	11: 58,972,731 (GRCm39)	E2105G	possibly damaging	Het
Or5b104	A	C	19: 13,072,648 (GRCm39)	Y121*	probably null	Het
Or5g9	A	T	2: 85,552,387 (GRCm39)	T213S	probably benign	Het
Or7g17	A	T	9: 18,768,725 (GRCm39)	Y259F	possibly damaging	Het
Or8k32	T	A	2: 86,368,725 (GRCm39)	H176L	possibly damaging	Het
Pbx3	C	T	2: 34,068,240 (GRCm39)	A320T	probably benign	Het
Pcdhac2	A	T	18: 37,279,197 (GRCm39)	S726C	probably damaging	Het
Pcdhgb2	A	G	18: 37,823,816 (GRCm39)	D269G	probably damaging	Het
Pcgf6	A	T	19: 47,034,271 (GRCm39)	S257T	probably damaging	Het
Pclo	A	T	5: 14,590,472 (GRCm39)	H924L	unknown	Het
Per3	T	A	4: 151,127,135 (GRCm39)	T129S	possibly damaging	Het
Pi4ka	A	T	16: 17,120,924 (GRCm39)	M1270K		Het
Plec	G	A	15: 76,063,750 (GRCm39)	Q2277*	probably null	Het
Pnma1	T	A	12: 84,194,109 (GRCm39)	K198M	probably damaging	Het
Prc1	T	A	7: 79,954,515 (GRCm39)	F196L	possibly damaging	Het
Prkcz	T	C	4: 155,441,962 (GRCm39)	T57A	probably damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Robo4	A	G	9: 37,313,931 (GRCm39)	M61V	possibly damaging	Het
Rps12	C	T	10: 23,661,575 (GRCm39)	V79I	probably benign	Het
Rsph3a	A	G	17: 8,198,020 (GRCm39)	K466E	probably benign	Het
Scly	A	T	1: 91,236,089 (GRCm39)	I168F	probably damaging	Het
Setd1a	T	A	7: 127,384,225 (GRCm39)	F359I	unknown	Het
Sh3tc1	A	G	5: 35,864,201 (GRCm39)	L662P	possibly damaging	Het
Slc12a5	T	C	2: 164,834,372 (GRCm39)	W798R	probably damaging	Het
Slc16a6	C	T	11: 109,364,281 (GRCm39)	R13Q	unknown	Het
Slco1a8	T	G	6: 141,933,460 (GRCm39)	M462L	probably benign	Het
Smarcad1	A	G	6: 65,029,766 (GRCm39)	D118G	possibly damaging	Het
Sos2	T	C	12: 69,653,989 (GRCm39)	T788A	probably damaging	Het
Syvn1	A	G	19: 6,098,396 (GRCm39)	E75G	probably null	Het
Thpo	T	C	16: 20,545,144 (GRCm39)	E103G	probably benign	Het
Trav7d-3	A	T	14: 52,982,193 (GRCm39)	E78V	possibly damaging	Het
Uap1	A	G	1: 169,986,332 (GRCm39)	S217P	probably damaging	Het
Upf1	A	G	8: 70,791,534 (GRCm39)		probably null	Het
Usp47	A	T	7: 111,646,177 (GRCm39)	K28M	probably damaging	Het
Wdr72	A	C	9: 74,126,054 (GRCm39)	T1062P	probably damaging	Het
Wnt7b	A	T	15: 85,421,646 (GRCm39)	C339S	probably damaging	Het
Zfp954	G	T	7: 7,118,470 (GRCm39)	T358K	probably benign	Het
Zmynd15	G	T	11: 70,350,278 (GRCm39)		probably benign	Het

Other mutations in Unc45a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R2120:Unc45a	UTSW	7	79,989,846 (GRCm39)	missense	probably benign	0.29
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
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'- ACAGGCCTTTCTAACCAGC -3'
(R):5'- GTCATGGAGAGCGTGATAGC -3'

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

Posted On

2020-06-30