Incidental Mutation 'R6857:Unc45b'
ID |
535327 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Unc45b
|
Ensembl Gene |
ENSMUSG00000018845 |
Gene Name |
unc-45 myosin chaperone B |
Synonyms |
UNC45, Cmya4, D230041A13Rik |
MMRRC Submission |
044959-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6857 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
82802112-82834284 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 82804038 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 72
(I72V)
|
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: I72V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000018989 Gene: ENSMUSG00000018845 AA Change: I72V
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: I72V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000103795 Gene: ENSMUSG00000018845 AA Change: I72V
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: I72V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000129405 Gene: ENSMUSG00000018845 AA Change: I72V
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 |
0.0836 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (58/58) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
A |
G |
11: 110,110,514 (GRCm39) |
L545P |
possibly damaging |
Het |
Adam4 |
T |
C |
12: 81,466,723 (GRCm39) |
T633A |
possibly damaging |
Het |
Ahnak |
C |
T |
19: 9,014,532 (GRCm39) |
Q119* |
probably null |
Het |
Anxa10 |
C |
A |
8: 62,514,051 (GRCm39) |
A239S |
probably benign |
Het |
B020011L13Rik |
A |
T |
1: 117,729,018 (GRCm39) |
H175L |
probably benign |
Het |
Best2 |
A |
G |
8: 85,734,452 (GRCm39) |
V422A |
probably benign |
Het |
Cc2d2b |
T |
C |
19: 40,759,309 (GRCm39) |
F298S |
possibly damaging |
Het |
Cd38 |
T |
A |
5: 44,063,540 (GRCm39) |
M211K |
probably damaging |
Het |
Cd3d |
T |
G |
9: 44,896,902 (GRCm39) |
M92R |
probably damaging |
Het |
Cdk5rap2 |
C |
A |
4: 70,163,633 (GRCm39) |
E1474* |
probably null |
Het |
Clvs1 |
A |
G |
4: 9,449,433 (GRCm39) |
K341E |
probably benign |
Het |
Copg2 |
G |
T |
6: 30,840,533 (GRCm39) |
D112E |
possibly damaging |
Het |
Cspg4b |
A |
T |
13: 113,456,492 (GRCm39) |
N846I |
probably damaging |
Het |
Dmxl1 |
A |
T |
18: 49,997,902 (GRCm39) |
N697Y |
probably damaging |
Het |
Dync1h1 |
T |
C |
12: 110,624,981 (GRCm39) |
S3803P |
possibly damaging |
Het |
Ecpas |
T |
A |
4: 58,814,065 (GRCm39) |
D1347V |
probably damaging |
Het |
Epx |
T |
A |
11: 87,760,781 (GRCm39) |
K384* |
probably null |
Het |
Fam135a |
G |
C |
1: 24,053,870 (GRCm39) |
D1222E |
probably damaging |
Het |
Fndc1 |
T |
A |
17: 7,991,002 (GRCm39) |
H898L |
unknown |
Het |
Gapvd1 |
A |
G |
2: 34,618,389 (GRCm39) |
I190T |
probably damaging |
Het |
Hax1 |
T |
G |
3: 89,904,759 (GRCm39) |
S122R |
probably damaging |
Het |
Hdac9 |
T |
G |
12: 34,443,362 (GRCm39) |
M272L |
probably benign |
Het |
Itgb7 |
T |
C |
15: 102,131,900 (GRCm39) |
S228G |
probably damaging |
Het |
Itpr2 |
C |
A |
6: 146,298,517 (GRCm39) |
E315* |
probably null |
Het |
Kctd8 |
T |
C |
5: 69,454,045 (GRCm39) |
N331D |
probably benign |
Het |
Ky |
G |
A |
9: 102,419,631 (GRCm39) |
G546E |
probably damaging |
Het |
Lao1 |
T |
C |
4: 118,821,023 (GRCm39) |
|
probably null |
Het |
Mtmr12 |
T |
A |
15: 12,263,918 (GRCm39) |
W427R |
probably damaging |
Het |
Mxra8 |
A |
G |
4: 155,927,593 (GRCm39) |
K434E |
possibly damaging |
Het |
Myh4 |
T |
C |
11: 67,140,711 (GRCm39) |
C676R |
possibly damaging |
Het |
Nek7 |
C |
T |
1: 138,443,420 (GRCm39) |
G178R |
probably damaging |
Het |
Or5w17 |
A |
T |
2: 87,583,831 (GRCm39) |
C169S |
probably damaging |
Het |
Or8b50 |
T |
C |
9: 38,518,307 (GRCm39) |
L182P |
probably benign |
Het |
Or8k35 |
A |
T |
2: 86,424,608 (GRCm39) |
L188H |
probably damaging |
Het |
Paqr5 |
G |
T |
9: 61,883,370 (GRCm39) |
H41N |
probably damaging |
Het |
Plekha8 |
T |
C |
6: 54,606,920 (GRCm39) |
L405P |
probably damaging |
Het |
Plpbp |
A |
G |
8: 27,535,454 (GRCm39) |
N79S |
possibly damaging |
Het |
Plxnd1 |
G |
T |
6: 115,970,724 (GRCm39) |
A348E |
probably benign |
Het |
Prdm9 |
T |
C |
17: 15,764,518 (GRCm39) |
Q754R |
probably benign |
Het |
Pygm |
G |
T |
19: 6,443,787 (GRCm39) |
G583C |
probably damaging |
Het |
Rgs12 |
A |
T |
5: 35,187,366 (GRCm39) |
K213* |
probably null |
Het |
Serpina3m |
T |
C |
12: 104,355,585 (GRCm39) |
L84P |
probably damaging |
Het |
Tab2 |
T |
C |
10: 7,796,177 (GRCm39) |
T102A |
possibly damaging |
Het |
Tagln3 |
G |
T |
16: 45,544,599 (GRCm39) |
A24E |
probably benign |
Het |
Tanc2 |
A |
G |
11: 105,801,114 (GRCm39) |
E1110G |
possibly damaging |
Het |
Tcf3 |
T |
C |
10: 80,252,733 (GRCm39) |
|
probably null |
Het |
Tmem14a |
T |
C |
1: 21,299,769 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
A |
2: 76,748,275 (GRCm39) |
E4258V |
possibly damaging |
Het |
Ubr4 |
G |
A |
4: 139,213,362 (GRCm39) |
D5104N |
possibly damaging |
Het |
Ugt2b37 |
C |
G |
5: 87,388,705 (GRCm39) |
A503P |
probably damaging |
Het |
Vmn1r88 |
A |
T |
7: 12,912,258 (GRCm39) |
M205L |
possibly damaging |
Het |
Vmn2r109 |
C |
T |
17: 20,760,932 (GRCm39) |
M808I |
probably benign |
Het |
Wdr72 |
G |
T |
9: 74,062,323 (GRCm39) |
V490L |
probably damaging |
Het |
Zfp1004 |
G |
T |
2: 150,033,982 (GRCm39) |
C132F |
probably damaging |
Het |
Zfp998 |
A |
T |
13: 66,580,161 (GRCm39) |
H107Q |
probably benign |
Het |
Zgrf1 |
T |
A |
3: 127,375,096 (GRCm39) |
V785E |
probably damaging |
Het |
Zswim7 |
A |
T |
11: 62,171,955 (GRCm39) |
|
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 |
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 |
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'- TTGGGGAAGCACTGGGAATC -3'
(R):5'- AGCTTACCTGCTCTTGGATGC -3'
Sequencing Primer
(F):5'- TGCCAACCTTGAGACTCTATGGG -3'
(R):5'- ATGCTGGTGTTGAGCCTCC -3'
|
Posted On |
2018-09-12 |