Mutagenetix > Incidental Mutation

Incidental Mutation 'R6029:Unc45b'

480281

Institutional Source

Beutler Lab

Gene Symbol

Unc45b

Ensembl Gene

ENSMUSG00000018845

Gene Name

unc-45 myosin chaperone B

Synonyms

UNC45, Cmya4, D230041A13Rik

MMRRC Submission

044201-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6029 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82802112-82834284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82804153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 110 (N110S)

Ref Sequence

ENSEMBL: ENSMUSP00000129405 (fasta)

Gene Model

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

AlphaFold

Q8CGY6

Predicted Effect

probably damaging
Transcript: ENSMUST00000018989
AA Change: N110S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000018989
Gene: ENSMUSG00000018845
AA Change: N110S

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 damaging
Transcript: ENSMUST00000108160
AA Change: N110S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103795
Gene: ENSMUSG00000018845
AA Change: N110S

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: ENSMUST00000147915

Predicted Effect

probably damaging
Transcript: ENSMUST00000164945
AA Change: N110S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129405
Gene: ENSMUSG00000018845
AA Change: N110S

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

0.3979

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

Validation Efficiency

97% (87/90)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	G	A	2: 68,524,370 (GRCm39)		probably null	Het
Adi1	G	A	12: 28,729,318 (GRCm39)		probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Apob	A	G	12: 8,066,243 (GRCm39)	E4371G	probably damaging	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Aspm	T	G	1: 139,408,728 (GRCm39)	C2538W	possibly damaging	Het
Brd10	A	G	19: 29,732,367 (GRCm39)		probably benign	Het
Btbd16	T	C	7: 130,420,802 (GRCm39)	V353A	probably benign	Het
Cad	C	T	5: 31,212,327 (GRCm39)	S10L	possibly damaging	Het
Cdc42bpa	T	C	1: 179,939,352 (GRCm39)	S877P	probably damaging	Het
Cep152	A	T	2: 125,405,552 (GRCm39)	V1660D	probably benign	Het
Clrn2	G	T	5: 45,617,528 (GRCm39)	G133V	probably damaging	Het
Clstn2	T	C	9: 97,338,634 (GRCm39)	I842V	probably benign	Het
Cpt1c	C	T	7: 44,614,548 (GRCm39)	A434T	probably benign	Het
D130052B06Rik	G	T	11: 33,573,477 (GRCm39)	V70L	possibly damaging	Het
Dlg1	T	A	16: 31,612,388 (GRCm39)	V317E	probably damaging	Het
Dock10	T	C	1: 80,514,663 (GRCm39)	E1084G	possibly damaging	Het
Dync2h1	A	G	9: 7,157,646 (GRCm39)	V827A	probably benign	Het
E030030I06Rik	A	G	10: 22,024,832 (GRCm39)	L27P	unknown	Het
Ero1b	T	A	13: 12,589,714 (GRCm39)	L39Q	probably damaging	Het
Erp27	T	C	6: 136,888,609 (GRCm39)	D123G	probably damaging	Het
Fasn	G	T	11: 120,711,735 (GRCm39)	F148L	probably damaging	Het
Fbxl5	T	C	5: 43,922,746 (GRCm39)	E218G	probably damaging	Het
Fbxw28	A	T	9: 109,158,493 (GRCm39)	D210E	probably damaging	Het
Gm10653	T	A	9: 62,748,796 (GRCm39)		probably benign	Het
Gm17067	A	G	7: 42,357,554 (GRCm39)	L316S	probably benign	Het
Gm29106	T	C	1: 118,127,990 (GRCm39)	S561P	probably damaging	Het
Hmcn1	C	A	1: 150,508,188 (GRCm39)	K3699N	probably benign	Het
Itch	T	A	2: 155,021,009 (GRCm39)		probably null	Het
Itpr3	C	T	17: 27,317,145 (GRCm39)	A800V	probably damaging	Het
Kdm2b	A	T	5: 123,017,650 (GRCm39)	M1052K	probably damaging	Het
Kdm4b	T	C	17: 56,703,576 (GRCm39)	M712T	probably damaging	Het
Kmt5b	A	G	19: 3,852,104 (GRCm39)	E137G	probably damaging	Het
Krt33a	G	A	11: 99,903,289 (GRCm39)	T251I	probably benign	Het
Lrrc4b	G	T	7: 44,111,754 (GRCm39)	R542L	probably benign	Het
Macf1	C	A	4: 123,401,126 (GRCm39)	S653I	probably damaging	Het
Macrod2	G	A	2: 142,160,367 (GRCm39)	V408M	probably damaging	Het
Macroh2a2	T	C	10: 61,583,541 (GRCm39)	T200A	possibly damaging	Het
Mapkapk3	G	T	9: 107,166,425 (GRCm39)	A40E	possibly damaging	Het
Mmp20	G	A	9: 7,639,302 (GRCm39)	V157I	probably benign	Het
Mrps28	T	C	3: 8,988,805 (GRCm39)	R18G	possibly damaging	Het
Msrb2	T	A	2: 19,399,122 (GRCm39)	C162S	probably damaging	Het
Naa80	A	G	9: 107,460,753 (GRCm39)	Y216C	probably damaging	Het
Nckap5	T	G	1: 125,953,523 (GRCm39)	T1078P	possibly damaging	Het
Nectin3	T	C	16: 46,256,763 (GRCm39)	Y91C	probably benign	Het
Nf2	G	T	11: 4,734,566 (GRCm39)		probably null	Het
Or10d1b	G	A	9: 39,613,696 (GRCm39)	A123V	probably damaging	Het
Or13a23-ps1	A	T	7: 140,118,789 (GRCm39)	M120L	unknown	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2y10	A	T	11: 49,455,428 (GRCm39)	I227F	possibly damaging	Het
Or4c29	T	C	2: 88,740,380 (GRCm39)	D119G	probably damaging	Het
Or4g7	T	A	2: 111,309,310 (GRCm39)	Y60*	probably null	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Oxr1	T	G	15: 41,689,297 (GRCm39)	L507W	probably damaging	Het
Plxna2	A	T	1: 194,481,883 (GRCm39)	K1451M	probably damaging	Het
Plxna2	A	G	1: 194,476,735 (GRCm39)	M1184V	probably benign	Het
Pofut1	G	A	2: 153,101,713 (GRCm39)		probably null	Het
Ppp1r16b	T	C	2: 158,597,137 (GRCm39)	V257A	possibly damaging	Het
Prss56	G	A	1: 87,115,279 (GRCm39)	W498*	probably null	Het
Ptpru	A	G	4: 131,498,604 (GRCm39)	F1329S	probably damaging	Het
Pusl1	A	G	4: 155,973,920 (GRCm39)	F278S	probably damaging	Het
Qars1	A	T	9: 108,390,889 (GRCm39)	L470F	probably damaging	Het
Rbm8a2	T	C	1: 175,806,312 (GRCm39)	D55G	probably benign	Het
Rora	T	A	9: 69,271,734 (GRCm39)	N181K	probably benign	Het
Rufy3	A	G	5: 88,775,114 (GRCm39)	D262G	probably damaging	Het
Sh3gl2	G	A	4: 85,299,651 (GRCm39)	V212M	probably damaging	Het
Sis	G	A	3: 72,835,641 (GRCm39)	T907I	probably benign	Het
Slc38a3	A	T	9: 107,529,374 (GRCm39)	I456N	probably damaging	Het
Slc4a8	T	A	15: 100,705,220 (GRCm39)	C809S	probably benign	Het
Snap91	A	T	9: 86,707,133 (GRCm39)		probably null	Het
Spaca6	A	G	17: 18,051,458 (GRCm39)	T45A	probably benign	Het
Speer1m	A	T	5: 11,970,680 (GRCm39)	L84F	probably damaging	Het
Spry1	T	C	3: 37,696,997 (GRCm39)	I80T	possibly damaging	Het
St8sia2	A	G	7: 73,610,458 (GRCm39)	L275P	possibly damaging	Het
Supt7l	C	A	5: 31,684,331 (GRCm39)		probably null	Het
Tdo2	T	A	3: 81,868,747 (GRCm39)	K304N	probably damaging	Het
Tdrd12	A	T	7: 35,184,655 (GRCm39)	Y753N	probably damaging	Het
Topbp1	A	T	9: 103,222,152 (GRCm39)	Q1341L	probably benign	Het
Trim14	G	T	4: 46,506,998 (GRCm39)	A406E	probably benign	Het
Trp63	C	T	16: 25,686,964 (GRCm39)	R393W	probably damaging	Het
Trrap	T	C	5: 144,754,489 (GRCm39)	V1932A	possibly damaging	Het
Trrap	T	C	5: 144,762,724 (GRCm39)	M2399T	possibly damaging	Het
Usp32	G	T	11: 84,916,408 (GRCm39)	H845Q	probably damaging	Het
Usp44	G	A	10: 93,682,494 (GRCm39)	D268N	probably damaging	Het
Vmn1r18	T	G	6: 57,367,451 (GRCm39)	R34S	possibly damaging	Het
Vmn2r103	T	A	17: 20,014,478 (GRCm39)	Y423*	probably null	Het
Wapl	A	T	14: 34,461,204 (GRCm39)	E1054V	possibly damaging	Het
Zbtb8b	A	G	4: 129,322,286 (GRCm39)	Y392H	probably damaging	Het
Zdhhc2	A	T	8: 40,925,968 (GRCm39)	Q321L	probably null	Het
Zfp983	A	G	17: 21,881,401 (GRCm39)	D443G	probably benign	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
R2111: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
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'- ATCCTTCCTGGGCAGTAGTATAGG -3'
(R):5'- TTTCATGGAGCCTGCCCATG -3'

Sequencing Primer
(F):5'- ATAGGGAGATCAGTCTTGTAGCCC -3'
(R):5'- ATGCTCTGCGCTATCTCTATTGAAAC -3'

Posted On

2017-06-26