Mutagenetix > Incidental Mutations

Incidental Mutation 'R6169:Unc45a'

490311

Institutional Source

Beutler Lab

Gene Symbol

Unc45a

Ensembl Gene

ENSMUSG00000030533

Gene Name

unc-45 myosin chaperone A

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6169 (G1)

Quality Score

177.009

Status

Validated

Chromosome

Chromosomal Location

80325292-80341005 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 80328763 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 646 (S646A)

Ref Sequence

ENSEMBL: ENSMUSP00000102991 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032748
AA Change: S646A

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032748
Gene: ENSMUSG00000030533
AA Change: S646A

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

possibly damaging
Transcript: ENSMUST00000107368
AA Change: S646A

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102991
Gene: ENSMUSG00000030533
AA Change: S646A

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

Meta Mutation Damage Score

0.1570

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

94% (67/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	C	A	11: 3,938,005	C127F	unknown	Het
9930111J21Rik2	A	T	11: 49,019,261		probably null	Het
Adamts16	A	T	13: 70,770,274	L676*	probably null	Het
Adgrv1	A	T	13: 81,419,259	V5265E	probably benign	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Akap6	T	A	12: 53,142,358	M2185K	probably benign	Het
Ankfy1	G	A	11: 72,754,459	C788Y	probably benign	Het
Ankrd50	A	G	3: 38,455,839	V793A	probably damaging	Het
Arid2	T	A	15: 96,368,677	N535K	probably benign	Het
Atrnl1	A	G	19: 57,642,463	T221A	probably benign	Het
Bbof1	C	T	12: 84,426,814	T306I	probably benign	Het
BC005561	T	A	5: 104,518,396	N261K	probably benign	Het
Cabs1	C	T	5: 87,979,754	T88I	possibly damaging	Het
Ccdc60	C	A	5: 116,137,072	A351S	probably benign	Het
Cetn3	A	C	13: 81,791,978	R44S	probably damaging	Het
Cluap1	A	G	16: 3,928,561	K262R	possibly damaging	Het
Cnrip1	G	A	11: 17,054,731	V94I	probably null	Het
Cog6	A	T	3: 53,007,301	S245T	probably benign	Het
Disp2	T	A	2: 118,791,550	V921D	probably damaging	Het
Ep400	T	C	5: 110,741,997	K504E	possibly damaging	Het
Fam189a1	G	A	7: 64,759,399	P416S	probably benign	Het
Fbn1	T	A	2: 125,335,489		probably null	Het
Fyb2	T	C	4: 105,000,516	V630A	probably benign	Het
Gm13088	T	C	4: 143,654,115	Y446C	probably benign	Het
Gm43218	T	A	6: 70,240,622	Y50F	probably benign	Het
Gm5431	T	C	11: 48,888,575	T507A	probably benign	Het
Gucy2e	G	T	11: 69,236,104	A181E	probably benign	Het
Hrnr	C	G	3: 93,325,755	S1100*	probably null	Het
Htt	T	C	5: 34,907,473	V3010A	probably damaging	Het
Ighv1-11	T	C	12: 114,612,298	Y99C	probably damaging	Het
Ighv1-12	T	C	12: 114,615,957	K25E	possibly damaging	Het
Il6ra	A	G	3: 89,871,291	F417S	probably benign	Het
Itgb4	T	C	11: 115,994,276	S994P	probably damaging	Het
Itgbl1	G	A	14: 123,660,378	A24T	probably benign	Het
Itpr1	T	C	6: 108,369,116	F127L	probably damaging	Het
Krt86	A	G	15: 101,476,289	Y243C	probably damaging	Het
Lnx1	A	T	5: 74,677,569	W11R	probably damaging	Het
Mast4	A	G	13: 102,787,421	L302P	probably damaging	Het
Mettl3	A	G	14: 52,298,757	V210A	possibly damaging	Het
Mllt1	T	C	17: 56,899,822	T341A	probably benign	Het
Obscn	T	C	11: 59,000,499	E7069G	unknown	Het
Olfr387-ps1	A	T	11: 73,665,334	T242S	possibly damaging	Het
Olfr547	T	C	7: 102,535,272	I175T	probably benign	Het
Osgep	A	G	14: 50,919,752	V11A	possibly damaging	Het
Oxld1	G	A	11: 120,456,849	A174V	possibly damaging	Het
Pibf1	A	T	14: 99,113,007	E197V	probably null	Het
Pkn1	G	A	8: 83,681,206	Q425*	probably null	Het
Prss35	T	C	9: 86,755,438	I87T	probably benign	Het
Psmc3	T	C	2: 91,057,839	F304S	probably damaging	Het
Psmd11	T	A	11: 80,460,713	M254K	probably damaging	Het
Ralgapa2	T	C	2: 146,450,465	Y218C	probably damaging	Het
Sec23b	C	T	2: 144,586,974	R701C	probably damaging	Het
Slc22a21	A	G	11: 53,958,087	S280P	probably damaging	Het
Slc39a12	T	C	2: 14,400,233	I212T	possibly damaging	Het
Slc7a12	T	C	3: 14,497,328	V255A	probably damaging	Het
Smc3	T	A	19: 53,634,086	N697K	probably benign	Het
Snai1	C	A	2: 167,538,911	P108Q	probably benign	Het
Ssfa2	T	G	2: 79,645,062	I455R	probably damaging	Het
Stim2	T	G	5: 54,118,679	L732R	probably damaging	Het
Syde1	A	G	10: 78,586,104	L597S	probably damaging	Het
Tcte1	T	A	17: 45,535,070	M200K	probably benign	Het
Tenm2	T	A	11: 36,139,690	T761S	probably damaging	Het
Tlr2	C	A	3: 83,838,148	E209D	probably benign	Het
Tpp2	T	C	1: 43,983,579	L33P	probably damaging	Het
Trmt1l	C	A	1: 151,428,953		probably benign	Het
Usp37	A	T	1: 74,495,751	I12N	probably damaging	Het
Vmn2r81	T	C	10: 79,268,548	V335A	probably benign	Het
Wwc2	A	T	8: 47,858,843	S762T	unknown	Het
Yeats2	A	G	16: 20,219,667	K129E	probably damaging	Het
Zscan4-ps2	T	C	7: 11,517,631	V198A	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
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

Predicted Primers

PCR Primer
(F):5'- GGCAGGCATTTCAATCTTAAGC -3'
(R):5'- CATGTTATTGGCAGCAGTTGAGC -3'

Sequencing Primer
(F):5'- GCAGGCATTTCAATCTTAAGCTAAGC -3'
(R):5'- AGGACAAACCAAGCTTCG -3'

Posted On

2017-10-10