Mutagenetix > Incidental Mutation

Incidental Mutation 'R1759:Unc45b'

195216

Institutional Source

Beutler Lab

Gene Symbol

Unc45b

Ensembl Gene

ENSMUSG00000018845

Gene Name

unc-45 myosin chaperone B

Synonyms

UNC45, Cmya4, D230041A13Rik

MMRRC Submission

039791-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1759 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82802112-82834284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 82820325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 590 (V590F)

Ref Sequence

ENSEMBL: ENSMUSP00000018989 (fasta)

Gene Model

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

AlphaFold

Q8CGY6

Predicted Effect

probably benign
Transcript: ENSMUST00000018989
AA Change: V590F

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000018989
Gene: ENSMUSG00000018845
AA Change: V590F

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: V592F

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000103795
Gene: ENSMUSG00000018845
AA Change: V592F

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: ENSMUST00000125499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142336

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156395

Predicted Effect

probably benign
Transcript: ENSMUST00000164945
AA Change: V592F

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000129405
Gene: ENSMUSG00000018845
AA Change: V592F

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: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.5%

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
9330159F19Rik	A	T	10: 29,094,272 (GRCm39)	M53L	possibly damaging	Het
Abca5	T	C	11: 110,184,674 (GRCm39)	D944G	probably benign	Het
Ankdd1b	T	C	13: 96,556,211 (GRCm39)	Y433C	probably damaging	Het
Aox3	A	G	1: 58,209,805 (GRCm39)		probably null	Het
Ap1g1	G	A	8: 110,559,853 (GRCm39)	G260E	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp13a4	T	A	16: 29,275,429 (GRCm39)	T352S	probably damaging	Het
Ccdc33	T	A	9: 58,024,729 (GRCm39)	N166Y	possibly damaging	Het
Ces2h	T	A	8: 105,743,243 (GRCm39)	D159E	probably damaging	Het
Chd1	T	A	17: 17,607,533 (GRCm39)	D360E	probably benign	Het
Col16a1	G	T	4: 129,978,062 (GRCm39)	G781V	probably damaging	Het
Col6a5	T	A	9: 105,808,045 (GRCm39)	E1001V	unknown	Het
Cracdl	A	T	1: 37,664,791 (GRCm39)	I369N	probably benign	Het
Cyp3a59	T	G	5: 146,035,060 (GRCm39)	M246R	probably benign	Het
Dcn	T	C	10: 97,349,517 (GRCm39)	V263A	probably benign	Het
Dnttip2	A	G	3: 122,069,798 (GRCm39)	N338D	probably benign	Het
Entpd1	G	T	19: 40,600,968 (GRCm39)		probably null	Het
Epb41l1	A	G	2: 156,363,894 (GRCm39)	D801G	probably benign	Het
Fam186a	T	A	15: 99,864,762 (GRCm39)	K23*	probably null	Het
Gbe1	T	C	16: 70,284,929 (GRCm39)	M417T	probably benign	Het
Gmnc	T	A	16: 26,784,497 (GRCm39)	S3C	possibly damaging	Het
Gpr156	T	C	16: 37,768,583 (GRCm39)	S35P	probably damaging	Het
Grid1	T	C	14: 35,167,988 (GRCm39)	M504T	possibly damaging	Het
Gsdma3	T	C	11: 98,526,071 (GRCm39)	V265A	possibly damaging	Het
Hsd3b3	A	T	3: 98,649,399 (GRCm39)	I308N	probably damaging	Het
Inpp4b	A	G	8: 82,494,732 (GRCm39)	D49G	probably benign	Het
Ipmk	C	A	10: 71,217,133 (GRCm39)	Q227K	probably damaging	Het
Kalrn	T	A	16: 34,181,320 (GRCm39)	D88V	probably damaging	Het
Kansl1l	C	T	1: 66,841,047 (GRCm39)	M84I	probably damaging	Het
Kcnab2	T	G	4: 152,477,509 (GRCm39)	K363Q	probably damaging	Het
Kdm7a	C	A	6: 39,124,633 (GRCm39)		probably null	Het
Kiss1r	T	C	10: 79,757,612 (GRCm39)	L322P	probably damaging	Het
Lce1e	A	T	3: 92,615,178 (GRCm39)	C56*	probably null	Het
Lrpprc	T	C	17: 85,047,509 (GRCm39)	K908E	probably damaging	Het
Mak	C	A	13: 41,210,110 (GRCm39)	W42L	probably damaging	Het
Map3k21	A	G	8: 126,671,519 (GRCm39)	T936A	probably benign	Het
Marchf7	C	T	2: 60,064,888 (GRCm39)	S388F	probably damaging	Het
Matcap1	A	T	8: 106,012,182 (GRCm39)	S88R	probably damaging	Het
Mgat2	A	T	12: 69,232,301 (GRCm39)	I292F	probably benign	Het
Myh3	C	A	11: 66,987,717 (GRCm39)	R1397S	probably damaging	Het
Myo5a	A	G	9: 75,089,275 (GRCm39)	D1135G	possibly damaging	Het
N4bp2	A	G	5: 65,983,956 (GRCm39)	E1667G	probably damaging	Het
Nbr1	A	G	11: 101,450,369 (GRCm39)	T43A	probably damaging	Het
Nip7	A	G	8: 107,784,767 (GRCm39)	N124S	probably benign	Het
Or3a1	G	A	11: 74,225,808 (GRCm39)	S83F	possibly damaging	Het
Or51l14	T	C	7: 103,101,356 (GRCm39)	S271P	probably benign	Het
Or6c75	T	A	10: 129,336,775 (GRCm39)	S7R	probably benign	Het
Or7g25	C	T	9: 19,160,384 (GRCm39)	V104I	probably benign	Het
Or8b55	T	C	9: 38,727,194 (GRCm39)	Y132H	probably damaging	Het
Otoa	T	C	7: 120,733,326 (GRCm39)	L731P	probably damaging	Het
Pcnx2	G	A	8: 126,500,717 (GRCm39)	P1458S	probably damaging	Het
Pfpl	A	G	19: 12,407,224 (GRCm39)	T492A	probably damaging	Het
Pgm1	A	G	4: 99,824,305 (GRCm39)	D326G	probably damaging	Het
Plekhh1	T	A	12: 79,119,535 (GRCm39)	Y953N	probably damaging	Het
Pnkd	G	A	1: 74,387,922 (GRCm39)	A195T	probably damaging	Het
Ppib	C	T	9: 65,968,764 (GRCm39)	Q51*	probably null	Het
Ppip5k1	G	T	2: 121,181,067 (GRCm39)	T13K	probably benign	Het
Psmg2	A	T	18: 67,781,246 (GRCm39)	S113C	probably benign	Het
Rapgef2	A	G	3: 78,974,038 (GRCm39)	M1584T	possibly damaging	Het
Rbm12b1	A	C	4: 12,145,424 (GRCm39)	R465S	probably damaging	Het
Reln	A	G	5: 22,215,287 (GRCm39)	Y1055H	probably damaging	Het
Ros1	A	T	10: 51,996,922 (GRCm39)	I1250K	probably damaging	Het
Samd9l	C	A	6: 3,373,401 (GRCm39)	V1287F	probably damaging	Het
Sgce	A	T	6: 4,689,765 (GRCm39)	I356N	probably damaging	Het
Sh3tc1	C	T	5: 35,863,248 (GRCm39)	E980K	possibly damaging	Het
Sil1	T	C	18: 35,551,151 (GRCm39)	E68G	possibly damaging	Het
Slc18a1	A	G	8: 69,518,237 (GRCm39)	I259T	possibly damaging	Het
Slc6a20b	A	C	9: 123,438,062 (GRCm39)		probably null	Het
Smg7	G	T	1: 152,724,597 (GRCm39)	T536K	probably benign	Het
Smyd4	A	G	11: 75,273,192 (GRCm39)	Y84C	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Sorbs2	A	T	8: 46,216,056 (GRCm39)	*50C	probably null	Het
Speg	A	T	1: 75,377,806 (GRCm39)	M855L	possibly damaging	Het
Srrt	G	T	5: 137,301,212 (GRCm39)	H71Q	probably damaging	Het
St6galnac5	A	G	3: 152,552,130 (GRCm39)	S146P	probably damaging	Het
Syne1	T	A	10: 5,299,369 (GRCm39)	Q962L	probably damaging	Het
Tiam2	A	G	17: 3,566,278 (GRCm39)	H1441R	probably damaging	Het
Tmem45a	C	T	16: 56,642,765 (GRCm39)	M135I	probably benign	Het
Tpr	A	T	1: 150,305,275 (GRCm39)	E1521D	probably benign	Het
Uba3	C	T	6: 97,173,865 (GRCm39)	G107R	probably damaging	Het
Vmn1r14	A	T	6: 57,211,297 (GRCm39)	T292S	probably benign	Het
Vmn2r102	T	A	17: 19,914,755 (GRCm39)	N773K	probably damaging	Het
Vps13d	A	T	4: 144,882,427 (GRCm39)	D1055E	probably benign	Het
Wfs1	G	C	5: 37,124,359 (GRCm39)	A844G	probably damaging	Het
Zfp398	A	G	6: 47,836,412 (GRCm39)	T71A	possibly damaging	Het
Zfp507	C	A	7: 35,475,403 (GRCm39)	A145S	probably damaging	Het
Zfp971	A	T	2: 177,675,722 (GRCm39)	E440D	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
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
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'- GAAGGACGACTTTGTCCAGGACATC -3'
(R):5'- GTGTTGCGAAATGTTCATCTGGCTC -3'

Sequencing Primer
(F):5'- ACAGCTCTGTCCTGTCAAAATG -3'
(R):5'- GTTTAATCAGATTACAAAAGCCCCG -3'

Posted On

2014-05-23