Mutagenetix > Incidental Mutations

Incidental Mutation 'R0373:Unc45a'

30611

Institutional Source

Beutler Lab

Gene Symbol

Unc45a

Ensembl Gene

ENSMUSG00000030533

Gene Name

unc-45 myosin chaperone A

Synonyms

MMRRC Submission

038579-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0373 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80325292-80341005 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80326344 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 796 (T796A)

Ref Sequence

ENSEMBL: ENSMUSP00000102991 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000032748
AA Change: T796A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032748
Gene: ENSMUSG00000030533
AA Change: T796A

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 damaging
Transcript: ENSMUST00000107368
AA Change: T796A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102991
Gene: ENSMUSG00000030533
AA Change: T796A

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: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.5%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	A	T	3: 138,173,582	L235Q	probably damaging	Het
Adam6b	T	A	12: 113,490,655	V364D	probably benign	Het
Akap13	T	C	7: 75,609,929	L767P	probably benign	Het
Akap13	T	A	7: 75,730,500	S2193T	probably damaging	Het
Anapc11	T	C	11: 120,605,377	V69A	probably benign	Het
Ankmy1	C	T	1: 92,896,190	R118Q	probably damaging	Het
Ankrd27	T	C	7: 35,638,053	S931P	probably benign	Het
Atp6v1c2	G	A	12: 17,288,168	R280C	probably damaging	Het
Bbs10	T	A	10: 111,300,052	I342N	probably damaging	Het
Calhm2	T	C	19: 47,132,950	D260G	possibly damaging	Het
Camk2a	A	G	18: 60,958,238	E264G	probably damaging	Het
Ccdc146	T	A	5: 21,319,545	M270L	probably benign	Het
Cdc16	A	G	8: 13,779,264	T517A	probably benign	Het
Ces1g	T	C	8: 93,331,193	H160R	probably benign	Het
Chst4	T	C	8: 110,030,394	N196S	probably damaging	Het
Ciz1	A	T	2: 32,367,467	N175Y	probably damaging	Het
Cyb5r4	G	A	9: 87,027,040	V57I	probably damaging	Het
Cyth3	A	G	5: 143,684,426		probably benign	Het
Def6	A	G	17: 28,220,180	E255G	probably damaging	Het
Dhtkd1	T	G	2: 5,911,870	Q665P	probably damaging	Het
Dsg3	A	C	18: 20,539,747	D825A	probably damaging	Het
Eif3m	T	C	2: 105,005,000	T242A	probably benign	Het
Emilin3	A	G	2: 160,909,817	F101L	probably benign	Het
Epha7	A	G	4: 28,935,700		probably null	Het
Fam205a1	T	C	4: 42,851,161	I332V	probably benign	Het
Fbxo45	A	T	16: 32,238,405	Y224N	probably damaging	Het
Fhod3	A	T	18: 25,090,104	M836L	possibly damaging	Het
Fut4	C	A	9: 14,751,210	V263F	probably damaging	Het
Ggt1	C	T	10: 75,579,270	T206M	probably benign	Het
Gls	T	C	1: 52,188,699	R79G	probably damaging	Het
Gm436	A	T	4: 144,686,220	M50K	possibly damaging	Het
Grhl1	T	C	12: 24,581,515	S156P	probably benign	Het
Ipo8	C	T	6: 148,775,042	S983N	probably benign	Het
Kcna7	C	T	7: 45,409,444	A385V	probably damaging	Het
Kpnb1	A	T	11: 97,185,090	L40Q	probably damaging	Het
Matn1	A	T	4: 130,950,106	S209C	probably damaging	Het
Mcc	A	G	18: 44,475,222	I501T	probably benign	Het
Mdp1	A	T	14: 55,659,375	F104L	probably damaging	Het
Mib2	A	T	4: 155,656,288	N626K	probably damaging	Het
Mrgprh	T	C	17: 12,876,956	S28P	possibly damaging	Het
Mup-ps23	T	A	4: 61,856,149		noncoding transcript	Het
Myh15	A	G	16: 49,182,959	T1794A	possibly damaging	Het
Myo18a	C	G	11: 77,821,042	P680A	probably benign	Het
Myom2	G	T	8: 15,098,419	D532Y	possibly damaging	Het
Ndufaf5	A	G	2: 140,170,881	N57S	probably benign	Het
Nectin3	C	T	16: 46,458,187	V282M	probably damaging	Het
Nup188	G	T	2: 30,330,988	D997Y	probably damaging	Het
Olfm3	T	C	3: 115,122,805	V462A	probably damaging	Het
Olfr1044	A	C	2: 86,171,706	F37C	probably damaging	Het
Olfr1225	A	T	2: 89,170,413	F266L	probably benign	Het
Olfr305	A	T	7: 86,363,805	C177*	probably null	Het
Opcml	A	G	9: 28,813,398	H164R	possibly damaging	Het
Pacrg	A	G	17: 10,403,418	I209T	probably damaging	Het
Pcf11	T	C	7: 92,661,215	M522V	probably benign	Het
Pck1	T	A	2: 173,153,390	M1K	probably null	Het
Pcm1	G	T	8: 41,276,111	E707*	probably null	Het
Pcsk5	G	A	19: 17,654,849	R318W	probably damaging	Het
Phf11d	A	T	14: 59,353,344	M188K	possibly damaging	Het
Ppip5k2	A	T	1: 97,740,537	C615*	probably null	Het
Prkdc	T	A	16: 15,791,927	S3132T	probably damaging	Het
Prl2c5	A	T	13: 13,183,024		probably benign	Het
Prpsap2	A	G	11: 61,741,000	I177T	possibly damaging	Het
Rad50	A	G	11: 53,650,519	S1297P	probably damaging	Het
Rasip1	T	A	7: 45,635,244	N678K	possibly damaging	Het
Rubcn	A	G	16: 32,835,980	S544P	probably damaging	Het
Rwdd2a	A	T	9: 86,574,400	T210S	possibly damaging	Het
Scd2	A	G	19: 44,303,040	D306G	probably damaging	Het
Sema3b	T	C	9: 107,602,918	N207S	probably benign	Het
Sf3b2	C	T	19: 5,274,824	D845N	probably damaging	Het
Sipa1l2	C	A	8: 125,464,410	C947F	probably damaging	Het
Slc12a1	A	T	2: 125,226,031	T1013S	probably damaging	Het
Slc18a2	A	T	19: 59,287,367	I461L	probably benign	Het
Slc1a6	C	A	10: 78,801,922	Y427*	probably null	Het
Slc30a4	A	T	2: 122,689,399	I231K	probably damaging	Het
Sos1	G	T	17: 80,453,763	A168D	probably damaging	Het
Sptb	T	C	12: 76,621,371	S651G	probably benign	Het
Stk36	T	C	1: 74,633,620	L1007P	probably damaging	Het
Tek	A	T	4: 94,804,341	N229Y	probably damaging	Het
Tep1	A	G	14: 50,836,768	F1887L	possibly damaging	Het
Tet1	A	T	10: 62,878,209	C602*	probably null	Het
Tnfrsf19	A	G	14: 60,972,036	S262P	possibly damaging	Het
Trim5	T	C	7: 104,265,684	I393V	probably benign	Het
Trpm6	A	G	19: 18,853,587	E1272G	probably benign	Het
Ttc21b	A	T	2: 66,188,326	Y1246N	probably damaging	Het
Ttll3	T	A	6: 113,398,777	L151H	probably damaging	Het
U2surp	C	T	9: 95,484,443	V470I	probably benign	Het
Ubr1	A	T	2: 120,946,657	Y276N	probably benign	Het
Uggt1	A	G	1: 36,179,670	S59P	probably benign	Het
Unc5b	C	A	10: 60,778,940	V193F	possibly damaging	Het
Upp1	G	T	11: 9,129,590	M50I	probably benign	Het
Vps18	C	T	2: 119,293,905	R438C	probably damaging	Het
Zfp715	T	C	7: 43,299,336	Y400C	possibly damaging	Het
Zfp955b	T	C	17: 33,302,522	Y322H	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
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

Predicted Primers

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

Sequencing Primer
(F):5'- ATCTTGCACCTGGGACAGATG -3'
(R):5'- CAGCACAGCAGAGTCTTTGG -3'

Posted On

2013-04-24