Mutagenetix > Incidental Mutation

Incidental Mutation 'R2111:Unc45b'

232575

Institutional Source

Beutler Lab

Gene Symbol

Unc45b

Ensembl Gene

ENSMUSG00000018845

Gene Name

unc-45 myosin chaperone B

Synonyms

UNC45, Cmya4, D230041A13Rik

MMRRC Submission

040115-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2111 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82802112-82834284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 82802515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 4 (A4T)

Ref Sequence

ENSEMBL: ENSMUSP00000129405 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018989] [ENSMUST00000103213] [ENSMUST00000108160] [ENSMUST00000164945]

AlphaFold

Q8CGY6

Predicted Effect

probably benign
Transcript: ENSMUST00000018989
AA Change: A4T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000018989
Gene: ENSMUSG00000018845
AA Change: A4T

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: ENSMUST00000103213

SMART Domains

Protein: ENSMUSP00000099502
Gene: ENSMUSG00000020692

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
Pfam:NLE	17	77	3.6e-15	PFAM
WD40	103	142	5.22e-12	SMART
WD40	145	184	1.48e-11	SMART
WD40	188	232	1.66e-5	SMART
WD40	235	273	3.11e-10	SMART
WD40	276	357	1.14e-3	SMART
WD40	361	400	8.81e-10	SMART
WD40	403	442	1.69e-11	SMART
WD40	445	484	9.44e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108160
AA Change: A4T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000103795
Gene: ENSMUSG00000018845
AA Change: A4T

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: ENSMUST00000126202

SMART Domains

Protein: ENSMUSP00000130605
Gene: ENSMUSG00000020692

Domain	Start	End	E-Value	Type
SCOP:d1flga_	12	46	2e-5	SMART
Blast:WD40	22	48	2e-10	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147915

Predicted Effect

probably benign
Transcript: ENSMUST00000164945
AA Change: A4T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000129405
Gene: ENSMUSG00000018845
AA Change: A4T

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (86/86)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330161L09Rik	T	C	12: 103,373,848 (GRCm39)		probably benign	Het
Abca2	A	T	2: 25,327,517 (GRCm39)	I669F	possibly damaging	Het
Adam9	C	T	8: 25,472,142 (GRCm39)		probably benign	Het
Adprhl1	A	G	8: 13,298,694 (GRCm39)	Y79H	probably damaging	Het
Akp3	A	T	1: 87,054,607 (GRCm39)		probably null	Het
Alpk2	T	C	18: 65,482,845 (GRCm39)	S388G	probably benign	Het
Amph	G	A	13: 19,300,436 (GRCm39)		probably benign	Het
Arr3	T	A	X: 99,658,247 (GRCm39)	F269L	possibly damaging	Het
Atp2a2	A	G	5: 122,597,609 (GRCm39)	F808S	probably damaging	Het
Baz1a	T	A	12: 54,958,170 (GRCm39)	N1027I	probably damaging	Het
C2cd4c	G	T	10: 79,448,255 (GRCm39)	H297Q	probably damaging	Het
Calr3	T	A	8: 73,181,112 (GRCm39)	D160V	probably damaging	Het
Cdc42ep1	C	T	15: 78,731,692 (GRCm39)	R46C	probably damaging	Het
Cdh23	G	T	10: 60,141,362 (GRCm39)	F3127L	probably damaging	Het
Cfhr4	T	A	1: 139,702,417 (GRCm39)		probably benign	Het
Cps1	T	A	1: 67,216,139 (GRCm39)	D821E	probably benign	Het
Cyp2e1	C	A	7: 140,353,547 (GRCm39)	T328K	probably damaging	Het
Dcp1a	T	C	14: 30,241,327 (GRCm39)	V379A	probably benign	Het
Dst	T	C	1: 34,208,259 (GRCm39)	S737P	probably damaging	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Eci2	A	G	13: 35,174,699 (GRCm39)		probably null	Het
Ercc6l2	A	G	13: 63,982,563 (GRCm39)	T126A	probably damaging	Het
Fgf6	T	C	6: 126,992,723 (GRCm39)	S59P	probably damaging	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Gapvd1	G	T	2: 34,574,329 (GRCm39)	A1256D	probably benign	Het
Gcfc2	C	A	6: 81,900,759 (GRCm39)	D24E	probably benign	Het
Gigyf2	A	G	1: 87,368,452 (GRCm39)	H1044R	probably damaging	Het
Gk2	T	C	5: 97,604,164 (GRCm39)	I225V	probably benign	Het
Gm3944	C	A	12: 18,903,895 (GRCm39)	S8*	probably null	Het
Gnl3l	A	G	X: 149,780,290 (GRCm39)	S217P	probably damaging	Het
Gpr156	A	G	16: 37,799,113 (GRCm39)	D109G	probably benign	Het
Hoxd1	A	T	2: 74,593,710 (GRCm39)	T89S	probably benign	Het
Ift172	G	A	5: 31,443,423 (GRCm39)	T112M	probably benign	Het
Igkv1-115	C	A	6: 68,138,613 (GRCm39)	S72*	probably null	Het
Ildr1	A	G	16: 36,542,341 (GRCm39)	E247G	probably damaging	Het
Insr	A	G	8: 3,219,748 (GRCm39)	S925P	probably benign	Het
Itpr1	T	G	6: 108,355,270 (GRCm39)		probably benign	Het
Khdrbs3	C	T	15: 68,896,673 (GRCm39)	T111I	probably benign	Het
Mageb3	A	G	2: 121,785,306 (GRCm39)		probably null	Het
Mcf2l	A	T	8: 13,051,867 (GRCm39)	K433N	probably damaging	Het
Mdn1	A	G	4: 32,700,409 (GRCm39)	E1456G	probably damaging	Het
Mta1	C	T	12: 113,095,248 (GRCm39)	T467I	probably damaging	Het
Mtr	A	T	13: 12,259,487 (GRCm39)	I196N	possibly damaging	Het
Mtus1	G	T	8: 41,475,608 (GRCm39)	P819T	probably damaging	Het
Myh1	G	A	11: 67,105,446 (GRCm39)	D1079N	possibly damaging	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Neb	A	G	2: 52,174,275 (GRCm39)	I1528T	probably benign	Het
Nek1	T	A	8: 61,577,360 (GRCm39)		probably null	Het
Nes	A	G	3: 87,884,618 (GRCm39)	E915G	probably benign	Het
Nlrp4f	T	C	13: 65,347,167 (GRCm39)	I30M	probably benign	Het
Nup153	A	G	13: 46,837,404 (GRCm39)	S1273P	probably benign	Het
Nup155	A	G	15: 8,150,951 (GRCm39)	I334V	probably benign	Het
Or10j2	A	T	1: 173,097,879 (GRCm39)	M46L	probably benign	Het
Or1e1f	A	G	11: 73,855,740 (GRCm39)	Y102C	probably damaging	Het
Or5b3	G	A	19: 13,388,307 (GRCm39)	A125T	probably damaging	Het
Or5d41	A	G	2: 88,054,818 (GRCm39)	V186A	possibly damaging	Het
Or6d13	T	C	6: 116,517,611 (GRCm39)	Y66H	possibly damaging	Het
Or8b46	T	A	9: 38,450,576 (GRCm39)	N128K	probably benign	Het
Or8k38	G	T	2: 86,488,781 (GRCm39)	T7K	probably damaging	Het
Parn	G	A	16: 13,420,933 (GRCm39)	S473L	probably damaging	Het
Pcnt	T	C	10: 76,256,360 (GRCm39)	K627E	probably damaging	Het
Pja2	T	A	17: 64,597,031 (GRCm39)	D553V	probably damaging	Het
Prune2	T	C	19: 17,185,602 (GRCm39)	F3004L	probably damaging	Het
Rasgrp3	T	C	17: 75,807,753 (GRCm39)		probably null	Het
Rdh13	A	G	7: 4,448,482 (GRCm39)	V10A	probably benign	Het
Rimbp2	T	C	5: 128,850,565 (GRCm39)	Y906C	probably damaging	Het
Ripor1	T	C	8: 106,341,344 (GRCm39)	F59S	probably damaging	Het
Rnf185	T	C	11: 3,382,393 (GRCm39)		probably benign	Het
Runx3	T	C	4: 134,882,627 (GRCm39)	V107A	probably damaging	Het
Scn3b	T	C	9: 40,193,741 (GRCm39)	V156A	probably benign	Het
Serpina3a	G	A	12: 104,082,481 (GRCm39)	A85T	probably damaging	Het
Slc12a7	C	T	13: 73,933,274 (GRCm39)	R111*	probably null	Het
Slc5a5	A	T	8: 71,342,395 (GRCm39)		probably null	Het
Snx13	A	T	12: 35,188,084 (GRCm39)	L787F	probably damaging	Het
Spef2	A	T	15: 9,589,659 (GRCm39)	M1535K	probably damaging	Het
Sphkap	T	G	1: 83,253,602 (GRCm39)	K1382N	probably benign	Het
Tagap1	A	G	17: 7,224,259 (GRCm39)	S146P	probably benign	Het
Tagln3	A	G	16: 45,531,957 (GRCm39)	Y192H	probably damaging	Het
Tbc1d15	A	C	10: 115,076,819 (GRCm39)	S22A	possibly damaging	Het
Tbc1d31	A	G	15: 57,796,040 (GRCm39)	E211G	probably benign	Het
Tmod3	A	G	9: 75,416,645 (GRCm39)	V229A	probably damaging	Het
Ubr2	A	G	17: 47,274,071 (GRCm39)		probably null	Het
Ugt2b36	T	C	5: 87,240,100 (GRCm39)	E95G	probably benign	Het
Usp40	A	G	1: 87,877,936 (GRCm39)	I1117T	probably benign	Het
Vcan	T	A	13: 89,841,422 (GRCm39)	D414V	probably damaging	Het
Xrn1	C	A	9: 95,921,885 (GRCm39)	H1433N	probably benign	Het
Zfp353-ps	T	A	8: 42,536,005 (GRCm39)		noncoding transcript	Het
Zfp74	G	A	7: 29,634,443 (GRCm39)	Q422*	probably null	Het
Zmym3	A	T	X: 100,450,993 (GRCm39)	V1208D	probably damaging	Het

Other mutations in Unc45b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01320:Unc45b	APN	11	82,803,219 (GRCm39)	critical splice acceptor site	probably null
IGL01983:Unc45b	APN	11	82,827,687 (GRCm39)	missense	probably benign
IGL02083:Unc45b	APN	11	82,813,745 (GRCm39)	missense	probably damaging	0.96
IGL02159:Unc45b	APN	11	82,831,007 (GRCm39)	splice site	probably benign
IGL02160:Unc45b	APN	11	82,831,007 (GRCm39)	splice site	probably benign
IGL02165:Unc45b	APN	11	82,831,007 (GRCm39)	splice site	probably benign
IGL02166:Unc45b	APN	11	82,831,007 (GRCm39)	splice site	probably benign
IGL02986:Unc45b	APN	11	82,808,005 (GRCm39)	missense	probably damaging	0.98
fife	UTSW	11	82,827,678 (GRCm39)	missense	probably benign	0.00
R0195:Unc45b	UTSW	11	82,828,654 (GRCm39)	missense	probably damaging	1.00
R0197:Unc45b	UTSW	11	82,831,031 (GRCm39)	missense	possibly damaging	0.78
R0218:Unc45b	UTSW	11	82,802,686 (GRCm39)	splice site	probably benign
R0436:Unc45b	UTSW	11	82,820,393 (GRCm39)	splice site	probably benign
R0569:Unc45b	UTSW	11	82,827,638 (GRCm39)	splice site	probably benign
R0701:Unc45b	UTSW	11	82,831,031 (GRCm39)	missense	possibly damaging	0.78
R0883:Unc45b	UTSW	11	82,831,031 (GRCm39)	missense	possibly damaging	0.78
R1146:Unc45b	UTSW	11	82,813,733 (GRCm39)	missense	probably damaging	0.99
R1146:Unc45b	UTSW	11	82,813,733 (GRCm39)	missense	probably damaging	0.99
R1378:Unc45b	UTSW	11	82,827,678 (GRCm39)	missense	probably benign	0.00
R1446:Unc45b	UTSW	11	82,819,496 (GRCm39)	missense	probably damaging	1.00
R1532:Unc45b	UTSW	11	82,827,700 (GRCm39)	missense	probably benign	0.12
R1559:Unc45b	UTSW	11	82,808,672 (GRCm39)	missense	possibly damaging	0.66
R1582:Unc45b	UTSW	11	82,816,771 (GRCm39)	missense	probably benign	0.30
R1628:Unc45b	UTSW	11	82,820,206 (GRCm39)	splice site	probably null
R1666:Unc45b	UTSW	11	82,808,565 (GRCm39)	missense	probably benign	0.31
R1677:Unc45b	UTSW	11	82,802,531 (GRCm39)	splice site	probably null
R1759:Unc45b	UTSW	11	82,820,325 (GRCm39)	missense	probably benign	0.33
R1909:Unc45b	UTSW	11	82,816,913 (GRCm39)	missense	probably damaging	1.00
R2067:Unc45b	UTSW	11	82,802,515 (GRCm39)	missense	probably benign	0.01
R2145:Unc45b	UTSW	11	82,808,580 (GRCm39)	missense	probably benign	0.30
R2258:Unc45b	UTSW	11	82,808,625 (GRCm39)	missense	probably benign	0.01
R2259:Unc45b	UTSW	11	82,808,625 (GRCm39)	missense	probably benign	0.01
R2497:Unc45b	UTSW	11	82,827,269 (GRCm39)	missense	probably damaging	1.00
R2507:Unc45b	UTSW	11	82,830,963 (GRCm39)	splice site	probably null
R4352:Unc45b	UTSW	11	82,804,035 (GRCm39)	missense	probably damaging	0.99
R4569:Unc45b	UTSW	11	82,827,315 (GRCm39)	critical splice donor site	probably null
R4624:Unc45b	UTSW	11	82,816,835 (GRCm39)	missense	probably benign	0.30
R5236:Unc45b	UTSW	11	82,805,888 (GRCm39)	missense	possibly damaging	0.53
R5512:Unc45b	UTSW	11	82,805,898 (GRCm39)	missense	possibly damaging	0.47
R5688:Unc45b	UTSW	11	82,813,643 (GRCm39)	missense	possibly damaging	0.88
R6029:Unc45b	UTSW	11	82,804,153 (GRCm39)	missense	probably damaging	1.00
R6616:Unc45b	UTSW	11	82,802,645 (GRCm39)	missense	probably damaging	1.00
R6857:Unc45b	UTSW	11	82,804,038 (GRCm39)	missense	probably benign	0.00
R6876:Unc45b	UTSW	11	82,813,738 (GRCm39)	missense	probably benign	0.00
R7197:Unc45b	UTSW	11	82,831,013 (GRCm39)	critical splice acceptor site	probably null
R7368:Unc45b	UTSW	11	82,833,321 (GRCm39)	missense	probably benign	0.01
R7531:Unc45b	UTSW	11	82,819,838 (GRCm39)	missense	probably damaging	1.00
R7743:Unc45b	UTSW	11	82,813,726 (GRCm39)	missense	probably damaging	1.00
R8198:Unc45b	UTSW	11	82,816,814 (GRCm39)	frame shift	probably null
R8214:Unc45b	UTSW	11	82,824,714 (GRCm39)	missense	possibly damaging	0.50
R8235:Unc45b	UTSW	11	82,810,681 (GRCm39)	missense	probably benign	0.01
R8916:Unc45b	UTSW	11	82,804,038 (GRCm39)	missense	probably benign	0.00
R9004:Unc45b	UTSW	11	82,819,515 (GRCm39)	missense	probably damaging	1.00
R9521:Unc45b	UTSW	11	82,808,586 (GRCm39)	missense	probably benign	0.09
R9687:Unc45b	UTSW	11	82,810,562 (GRCm39)	missense	probably damaging	1.00
R9757:Unc45b	UTSW	11	82,810,558 (GRCm39)	missense	probably damaging	0.99
R9784:Unc45b	UTSW	11	82,816,986 (GRCm39)	missense	probably damaging	1.00
T0970:Unc45b	UTSW	11	82,813,714 (GRCm39)	missense	probably benign	0.00
Z1176:Unc45b	UTSW	11	82,833,541 (GRCm39)	missense	probably damaging	1.00
Z1176:Unc45b	UTSW	11	82,819,480 (GRCm39)	critical splice acceptor site	probably null
Z1177:Unc45b	UTSW	11	82,833,379 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGACAACCCTTTCAGTGG -3'
(R):5'- TGTCCCAGACCATTTTCAGG -3'

Sequencing Primer
(F):5'- TTTCAGTGGGAGTCAAGCCC -3'
(R):5'- AGACCATTTTCAGGCCGCAG -3'

Posted On

2014-09-18