Mutagenetix > Incidental Mutation

Incidental Mutation 'R2259:Unc45b'

243663

Institutional Source

Beutler Lab

Gene Symbol

Unc45b

Ensembl Gene

ENSMUSG00000018845

Gene Name

unc-45 myosin chaperone B

Synonyms

Cmya4, D230041A13Rik, UNC45

MMRRC Submission

040259-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2259 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82910550-82943403 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82917799 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 237 (M237K)

Ref Sequence

ENSEMBL: ENSMUSP00000129405 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018989] [ENSMUST00000108160] [ENSMUST00000164945]

AlphaFold

Q8CGY6

Predicted Effect

probably benign
Transcript: ENSMUST00000018989
AA Change: M237K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000018989
Gene: ENSMUSG00000018845
AA Change: M237K

Domain	Start	End	E-Value	Type
TPR	6	39	1.02e1	SMART
TPR	43	76	7.47e0	SMART
TPR	77	110	2.52e-1	SMART
Blast:ARM	167	208	3e-16	BLAST
Blast:ARM	210	250	1e-10	BLAST
Pfam:UNC45-central	298	489	1.7e-41	PFAM
Blast:ARM	541	582	7e-7	BLAST
Blast:ARM	661	701	2e-14	BLAST
Blast:ARM	704	746	5e-11	BLAST
Blast:ARM	747	788	1e-20	BLAST
Blast:ARM	789	820	1e-11	BLAST
low complexity region	821	832	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108160
AA Change: M237K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000103795
Gene: ENSMUSG00000018845
AA Change: M237K

Domain	Start	End	E-Value	Type
TPR	6	39	1.02e1	SMART
TPR	43	76	7.47e0	SMART
TPR	77	110	2.52e-1	SMART
Blast:ARM	167	208	3e-16	BLAST
Blast:ARM	210	250	1e-10	BLAST
Pfam:UNC45-central	271	489	2.2e-52	PFAM
Blast:ARM	663	703	2e-14	BLAST
Blast:ARM	706	748	5e-11	BLAST
Blast:ARM	749	790	1e-20	BLAST
Blast:ARM	791	822	1e-11	BLAST
low complexity region	823	834	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164945
AA Change: M237K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000129405
Gene: ENSMUSG00000018845
AA Change: M237K

Domain	Start	End	E-Value	Type
TPR	6	39	1.02e1	SMART
TPR	43	76	7.47e0	SMART
TPR	77	110	2.52e-1	SMART
Blast:ARM	167	208	3e-16	BLAST
Blast:ARM	210	250	1e-10	BLAST
Pfam:UNC45-central	298	489	1.7e-41	PFAM
Blast:ARM	663	703	2e-14	BLAST
Blast:ARM	706	748	5e-11	BLAST
Blast:ARM	749	790	1e-20	BLAST
Blast:ARM	791	822	1e-11	BLAST
low complexity region	823	834	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a co-chaperone required for folding and accumulation of type II myosins. The protein consists of three tetratricopeptide repeat motifs at the N-terminus that form a complex with heat shock protein 90, a central region of unknown function that is conserved in all Unc-45 proteins, and a C-terminal Unc-45/Cro1/She4 domain. The protein is expressed at high levels in striated muscle, where its muscle myosin chaperone activity is dependent on heat shock protein 90 acting as a co-chaperone. A missense mutation in this gene has been associated with cataract development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E9 without placental abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	G	5: 129,112,311	S91A	possibly damaging	Het
Ankrd13b	T	G	11: 77,476,342	N247T	probably damaging	Het
Atp10b	A	G	11: 43,172,745	D169G	probably damaging	Het
Atp10b	G	A	11: 43,189,613	V239M	probably damaging	Het
Cflar	C	T	1: 58,729,121	T121I	probably benign	Het
Clca3b	T	C	3: 144,846,381	N180D	possibly damaging	Het
Cnbd2	T	A	2: 156,335,272	I62N	probably damaging	Het
Col11a2	A	G	17: 34,039,677	H8R	probably benign	Het
Cyp2a4	C	T	7: 26,309,035	L201F	probably damaging	Het
D630003M21Rik	A	T	2: 158,204,711	L782Q	probably damaging	Het
Dctn1	C	A	6: 83,197,586	H1065N	possibly damaging	Het
Dgcr2	A	T	16: 17,844,977		probably null	Het
Dlg4	T	C	11: 70,031,370	I143T	probably damaging	Het
E2f7	T	G	10: 110,746,343	N4K	probably damaging	Het
Eef2kmt	C	T	16: 5,245,308	V323I	probably benign	Het
Eif2ak4	A	C	2: 118,455,783	I1017L	probably damaging	Het
Eln	C	A	5: 134,729,654	A126S	unknown	Het
Exoc7	T	C	11: 116,306,411	S35G	probably damaging	Het
Fam187a	A	G	11: 102,885,298		probably benign	Het
Fam196a	T	A	7: 134,917,667	E378V	probably damaging	Het
Fkbp6	C	T	5: 135,337,614		probably null	Het
Flnc	G	A	6: 29,438,666	W186*	probably null	Het
Fmn2	T	A	1: 174,502,932	L296H	unknown	Het
Galnt14	C	A	17: 73,494,266	M520I	probably benign	Het
Gba2	A	G	4: 43,570,107	C396R	probably benign	Het
Gigyf1	C	A	5: 137,520,332	A215E	possibly damaging	Het
Glb1	C	T	9: 114,443,032	Q246*	probably null	Het
Gm11565	T	G	11: 99,915,018	C79G	possibly damaging	Het
Gpr160	A	G	3: 30,896,295	Y172C	probably damaging	Het
Ift52	A	G	2: 163,028,093	N159S	probably benign	Het
Insrr	A	G	3: 87,800,452	D67G	probably damaging	Het
Irf2	A	G	8: 46,837,833	Y230C	probably benign	Het
Jmjd6	T	C	11: 116,841,314	H187R	probably damaging	Het
Kdm2b	C	T	5: 122,882,416	G90S	probably damaging	Het
Kif7	C	T	7: 79,711,589	G118D	probably damaging	Het
Klhl38	G	C	15: 58,314,978	T532S	possibly damaging	Het
Kmt2a	G	T	9: 44,881,142		probably benign	Het
Lama2	A	G	10: 27,031,127	L2346S	probably benign	Het
Marveld2	A	G	13: 100,612,470	S34P	probably benign	Het
Mettl7a1	A	T	15: 100,313,168	I174F	probably benign	Het
Mllt6	T	C	11: 97,664,976	V44A	probably damaging	Het
Muc5ac	A	G	7: 141,791,008	N72S	probably benign	Het
Myo7a	T	G	7: 98,069,499	D1388A	probably damaging	Het
Ncapd3	A	G	9: 27,056,072	D568G	probably benign	Het
Ncoa1	A	C	12: 4,315,819	H82Q	probably damaging	Het
Npbwr1	C	A	1: 5,916,658	L212F	probably damaging	Het
Nptx1	T	G	11: 119,543,316	I315L	probably benign	Het
Npy2r	G	T	3: 82,541,354	P38Q	possibly damaging	Het
Ocln	A	T	13: 100,535,029	D24E	probably damaging	Het
Olfr1350	A	T	7: 6,570,023	I11F	probably damaging	Het
Olfr295	T	A	7: 86,585,884	V203D	possibly damaging	Het
Olfr933	T	C	9: 38,976,000	V108A	probably benign	Het
Pde2a	A	T	7: 101,484,567	D85V	probably damaging	Het
Phf3	A	G	1: 30,804,343	V1845A	probably benign	Het
Plch1	T	A	3: 63,697,977	Q1493L	possibly damaging	Het
Pold1	T	C	7: 44,541,484		probably benign	Het
Polq	T	C	16: 37,062,097	V1541A	probably benign	Het
Psmd3	T	A	11: 98,690,964	M305K	probably benign	Het
Pura	T	C	18: 36,287,750	F197L	possibly damaging	Het
Rab3gap2	T	A	1: 185,221,859	W43R	probably damaging	Het
Repin1	A	G	6: 48,596,530	Q128R	probably benign	Het
Rnf208	G	A	2: 25,243,644	V117I	probably damaging	Het
Rpe65	A	G	3: 159,615,571	Y340C	probably damaging	Het
Ryr1	C	A	7: 29,019,741	V4414L	unknown	Het
Sephs2	T	C	7: 127,273,477	E148G	possibly damaging	Het
Spns2	T	A	11: 72,457,268	Q291L	probably benign	Het
Ssc5d	C	T	7: 4,943,916	P1090S	probably benign	Het
Tasp1	A	T	2: 139,951,506	V250D	probably damaging	Het
Tcaf3	A	G	6: 42,591,430	I664T	possibly damaging	Het
Tg	T	C	15: 66,683,898	V813A	probably benign	Het
Tmem132c	T	C	5: 127,504,924	L401P	probably benign	Het
Tmem138	T	C	19: 10,571,603	N101S	probably benign	Het
Tmem242	G	T	17: 5,433,470	A99E	probably damaging	Het
Tmem30a	C	T	9: 79,774,164	R277H	probably benign	Het
Tnni3	T	A	7: 4,519,406	I182F	probably benign	Het
Trim30a	T	A	7: 104,411,504	D355V	probably damaging	Het
Trim35	C	T	14: 66,309,262	R493*	probably null	Het
Trip10	G	C	17: 57,255,135	V254L	probably benign	Het
Tshz2	A	T	2: 169,886,406	Q505L	probably benign	Het
Ttyh1	T	C	7: 4,128,184	V218A	probably damaging	Het
Unc13b	A	T	4: 43,182,780	E3163V	possibly damaging	Het
Usp8	A	G	2: 126,758,568	T1080A	probably benign	Het
Vmn2r65	T	A	7: 84,940,911	H599L	possibly damaging	Het
Vps13c	A	G	9: 67,953,860	N2891S	probably benign	Het
Xpo5	C	T	17: 46,240,896	Q1050*	probably null	Het
Zfp407	G	T	18: 84,209,793	T1897K	probably damaging	Het
Zzef1	C	T	11: 72,900,633	R2188*	probably null	Het

Other mutations in Unc45b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01320:Unc45b	APN	11	82912393	critical splice acceptor site	probably null
IGL01983:Unc45b	APN	11	82936861	missense	probably benign
IGL02083:Unc45b	APN	11	82922919	missense	probably damaging	0.96
IGL02159:Unc45b	APN	11	82940181	splice site	probably benign
IGL02160:Unc45b	APN	11	82940181	splice site	probably benign
IGL02165:Unc45b	APN	11	82940181	splice site	probably benign
IGL02166:Unc45b	APN	11	82940181	splice site	probably benign
IGL02986:Unc45b	APN	11	82917179	missense	probably damaging	0.98
fife	UTSW	11	82936852	missense	probably benign	0.00
R0195:Unc45b	UTSW	11	82937828	missense	probably damaging	1.00
R0197:Unc45b	UTSW	11	82940205	missense	possibly damaging	0.78
R0218:Unc45b	UTSW	11	82911860	splice site	probably benign
R0436:Unc45b	UTSW	11	82929567	splice site	probably benign
R0569:Unc45b	UTSW	11	82936812	splice site	probably benign
R0701:Unc45b	UTSW	11	82940205	missense	possibly damaging	0.78
R0883:Unc45b	UTSW	11	82940205	missense	possibly damaging	0.78
R1146:Unc45b	UTSW	11	82922907	missense	probably damaging	0.99
R1146:Unc45b	UTSW	11	82922907	missense	probably damaging	0.99
R1378:Unc45b	UTSW	11	82936852	missense	probably benign	0.00
R1446:Unc45b	UTSW	11	82928670	missense	probably damaging	1.00
R1532:Unc45b	UTSW	11	82936874	missense	probably benign	0.12
R1559:Unc45b	UTSW	11	82917846	missense	possibly damaging	0.66
R1582:Unc45b	UTSW	11	82925945	missense	probably benign	0.30
R1628:Unc45b	UTSW	11	82929380	splice site	probably null
R1666:Unc45b	UTSW	11	82917739	missense	probably benign	0.31
R1677:Unc45b	UTSW	11	82911705	splice site	probably null
R1759:Unc45b	UTSW	11	82929499	missense	probably benign	0.33
R1909:Unc45b	UTSW	11	82926087	missense	probably damaging	1.00
R2067:Unc45b	UTSW	11	82911689	missense	probably benign	0.01
R2111:Unc45b	UTSW	11	82911689	missense	probably benign	0.01
R2145:Unc45b	UTSW	11	82917754	missense	probably benign	0.30
R2258:Unc45b	UTSW	11	82917799	missense	probably benign	0.01
R2497:Unc45b	UTSW	11	82936443	missense	probably damaging	1.00
R2507:Unc45b	UTSW	11	82940137	splice site	probably null
R4352:Unc45b	UTSW	11	82913209	missense	probably damaging	0.99
R4569:Unc45b	UTSW	11	82936489	critical splice donor site	probably null
R4624:Unc45b	UTSW	11	82926009	missense	probably benign	0.30
R5236:Unc45b	UTSW	11	82915062	missense	possibly damaging	0.53
R5512:Unc45b	UTSW	11	82915072	missense	possibly damaging	0.47
R5688:Unc45b	UTSW	11	82922817	missense	possibly damaging	0.88
R6029:Unc45b	UTSW	11	82913327	missense	probably damaging	1.00
R6616:Unc45b	UTSW	11	82911819	missense	probably damaging	1.00
R6857:Unc45b	UTSW	11	82913212	missense	probably benign	0.00
R6876:Unc45b	UTSW	11	82922912	missense	probably benign	0.00
R7197:Unc45b	UTSW	11	82940187	critical splice acceptor site	probably null
R7368:Unc45b	UTSW	11	82942495	missense	probably benign	0.01
R7531:Unc45b	UTSW	11	82929012	missense	probably damaging	1.00
R7743:Unc45b	UTSW	11	82922900	missense	probably damaging	1.00
R8198:Unc45b	UTSW	11	82925988	frame shift	probably null
R8214:Unc45b	UTSW	11	82933888	missense	possibly damaging	0.50
R8235:Unc45b	UTSW	11	82919855	missense	probably benign	0.01
R8916:Unc45b	UTSW	11	82913212	missense	probably benign	0.00
R9004:Unc45b	UTSW	11	82928689	missense	probably damaging	1.00
R9521:Unc45b	UTSW	11	82917760	missense	probably benign	0.09
R9687:Unc45b	UTSW	11	82919736	missense	probably damaging	1.00
R9757:Unc45b	UTSW	11	82919732	missense	probably damaging	0.99
R9784:Unc45b	UTSW	11	82926160	missense	probably damaging	1.00
T0970:Unc45b	UTSW	11	82922888	missense	probably benign	0.00
Z1176:Unc45b	UTSW	11	82928654	critical splice acceptor site	probably null
Z1176:Unc45b	UTSW	11	82942715	missense	probably damaging	1.00
Z1177:Unc45b	UTSW	11	82942553	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATAGCTCGGAGTCTTCTGGAG -3'
(R):5'- CGGGAATTGCCAGTGTAAGG -3'

Sequencing Primer
(F):5'- CCACTTCCCTATAGCATGAAGTGGG -3'
(R):5'- AATTGCCAGTGTAAGGTGGTGAC -3'

Posted On

2014-10-16