Mutagenetix > Incidental Mutations

Incidental Mutation 'R1532:Unc45b'

166680

Institutional Source

Beutler Lab

Gene Symbol

Unc45b

Ensembl Gene

ENSMUSG00000018845

Gene Name

unc-45 myosin chaperone B

Synonyms

Cmya4, D230041A13Rik, UNC45

MMRRC Submission

039571-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1532 (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 82936874 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 730 (D730E)

Ref Sequence

ENSEMBL: ENSMUSP00000018989 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000018989
AA Change: D730E

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000018989
Gene: ENSMUSG00000018845
AA Change: D730E

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: D732E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000103795
Gene: ENSMUSG00000018845
AA Change: D732E

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

noncoding transcript
Transcript: ENSMUST00000142336

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156395

Predicted Effect

probably benign
Transcript: ENSMUST00000164945
AA Change: D732E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000129405
Gene: ENSMUSG00000018845
AA Change: D732E

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: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.9%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	C	A	4: 86,248,065	H394N	probably benign	Het
Ahrr	A	G	13: 74,213,707	S558P	probably benign	Het
Ankrd26	T	C	6: 118,522,958	N1184S	probably damaging	Het
Anpep	A	T	7: 79,826,948	C14*	probably null	Het
Arhgap18	A	G	10: 26,860,722	D187G	possibly damaging	Het
Arhgef5	A	G	6: 43,273,403	T363A	probably benign	Het
Atxn1	A	T	13: 45,566,910	L503Q	possibly damaging	Het
Babam1	A	G	8: 71,399,633	D155G	possibly damaging	Het
Bbs9	A	G	9: 22,887,649	T858A	probably benign	Het
Cacna1g	C	A	11: 94,443,331	G828V	probably damaging	Het
Ccar2	T	C	14: 70,142,956	T392A	probably benign	Het
Cd163	T	C	6: 124,312,730	V469A	possibly damaging	Het
Cdh23	G	T	10: 60,314,331	N2576K	probably damaging	Het
Coro2b	A	G	9: 62,489,423	Y18H	probably damaging	Het
Crispld2	G	T	8: 120,023,572	K238N	probably benign	Het
Ctnnd2	T	C	15: 30,921,868	I880T	probably damaging	Het
Cubn	C	A	2: 13,287,661	C3237F	probably damaging	Het
Ddx31	A	G	2: 28,881,159	M519V	probably benign	Het
Dhx32	A	T	7: 133,749,024	C106S	possibly damaging	Het
Diaph1	A	G	18: 37,896,093		probably null	Het
Dnaaf1	T	C	8: 119,577,423	F67L	probably benign	Het
Duox1	T	G	2: 122,344,723	L1334R	probably damaging	Het
Dync1li2	A	T	8: 104,426,035	I322N	probably damaging	Het
Eml6	T	C	11: 29,792,256		probably null	Het
Entpd6	A	G	2: 150,758,750	Q126R	probably benign	Het
Entpd7	C	G	19: 43,691,077	P23R	possibly damaging	Het
Epha3	T	C	16: 63,546,178	I970V	probably benign	Het
Fras1	A	T	5: 96,713,996	H2163L	probably damaging	Het
Gse1	C	G	8: 120,568,210		probably benign	Het
Heatr5a	A	G	12: 51,952,518	V300A	probably damaging	Het
Hsd3b1	T	A	3: 98,852,898	D259V	probably damaging	Het
Hspbap1	T	C	16: 35,825,303	S453P	probably damaging	Het
Ifnl3	A	G	7: 28,524,227	T163A	probably benign	Het
Igbp1b	T	A	6: 138,658,444	M1L	possibly damaging	Het
Klra3	G	C	6: 130,333,144	R138G	probably benign	Het
Lpxn	T	C	19: 12,804,092		probably null	Het
Mast1	G	A	8: 84,928,609	Q249*	probably null	Het
Mink1	A	G	11: 70,602,007	D153G	probably null	Het
Mllt10	G	A	2: 18,092,835		probably null	Het
Mpl	C	T	4: 118,448,568	G420E	possibly damaging	Het
Ms4a1	T	A	19: 11,253,193	T215S	probably benign	Het
Ncapd3	C	T	9: 27,083,360	Q1179*	probably null	Het
Nr3c2	A	G	8: 76,909,104	H278R	probably damaging	Het
Olfr1417	T	C	19: 11,828,619	I136V	probably benign	Het
Olfr1454	A	G	19: 13,064,275	Y288C	probably damaging	Het
Olfr670	T	C	7: 104,960,265	I156V	probably benign	Het
Os9	C	T	10: 127,098,902	V353M	probably damaging	Het
Osbpl5	A	T	7: 143,695,080	M589K	probably benign	Het
Phf20	G	T	2: 156,303,049	G859V	possibly damaging	Het
Pkhd1	G	A	1: 20,117,401	T3561I	probably benign	Het
Prss46	G	A	9: 110,850,168	V146I	probably benign	Het
Ptprk	G	A	10: 28,585,630	V1139M	probably damaging	Het
Ranbp10	A	G	8: 105,774,331	L396P	probably benign	Het
Rb1cc1	A	G	1: 6,249,734	T1126A	probably benign	Het
Rbl2	G	A	8: 91,106,417	A659T	probably benign	Het
Rdm1	T	C	11: 101,633,817	L192P	probably damaging	Het
Reln	A	C	5: 22,034,744	W842G	probably damaging	Het
Scn5a	C	T	9: 119,533,847	R569H	probably damaging	Het
Sele	A	G	1: 164,053,851	K509R	probably benign	Het
Slc15a1	A	T	14: 121,475,984	I377N	possibly damaging	Het
Slc17a3	G	A	13: 23,856,500	G269D	probably damaging	Het
Slc35a5	T	C	16: 45,151,557	T115A	probably benign	Het
Slc5a12	T	G	2: 110,610,138	N157K	possibly damaging	Het
Sphkap	A	G	1: 83,257,203	V1634A	probably damaging	Het
Spta1	T	C	1: 174,247,353	S2382P	probably damaging	Het
Synj2	C	A	17: 6,033,919	S1100R	probably benign	Het
Tcf23	A	G	5: 30,973,557	T180A	probably benign	Het
Tnxb	T	C	17: 34,710,830	V2846A	probably damaging	Het
Tpr	T	A	1: 150,418,000	I915K	probably damaging	Het
Uba1y	C	T	Y: 828,862	H557Y	probably benign	Het
Unc5b	A	T	10: 60,769,232	L734Q	probably damaging	Het
Vmn1r167	G	T	7: 23,504,779	H271N	probably benign	Het
Vmn2r76	A	G	7: 86,230,246	V282A	probably benign	Het
Xirp2	A	G	2: 67,513,939	K2175E	probably benign	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
mr_chicken	UTSW	11	82913212	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
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	intron	probably null
R1666:Unc45b	UTSW	11	82917739	missense	probably benign	0.31
R1677:Unc45b	UTSW	11	82911705	unclassified	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
R2259:Unc45b	UTSW	11	82917799	missense	probably benign	0.01
R2497:Unc45b	UTSW	11	82936443	missense	probably damaging	1.00
R2507:Unc45b	UTSW	11	82940137	intron	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
T0970:Unc45b	UTSW	11	82922888	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGATTGCTGCTGTCTCCAACCC -3'
(R):5'- TCCCTCTGCTTCCTAGAAGGAACAC -3'

Sequencing Primer
(F):5'- CTCATCTCTGCTAAAAAGGGGTTG -3'
(R):5'- GGGACATCTGCTTTACATAATCCTG -3'

Posted On

2014-04-13