Incidental Mutation 'R4352:Unc45b'
ID |
327358 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Unc45b
|
Ensembl Gene |
ENSMUSG00000018845 |
Gene Name |
unc-45 myosin chaperone B |
Synonyms |
UNC45, Cmya4, D230041A13Rik |
MMRRC Submission |
041668-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4352 (G1)
|
Quality Score |
173 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
82802112-82834284 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 82804035 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 71
(D71N)
|
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: D71N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000018989 Gene: ENSMUSG00000018845 AA Change: D71N
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: D71N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103795 Gene: ENSMUSG00000018845 AA Change: D71N
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: D71N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000129405 Gene: ENSMUSG00000018845 AA Change: D71N
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 |
0.0944 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
96% (79/82) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
Abtb2 |
T |
A |
2: 103,513,738 (GRCm39) |
D382E |
possibly damaging |
Het |
Adamts1 |
T |
A |
16: 85,599,234 (GRCm39) |
D122V |
probably benign |
Het |
Ankrd54 |
A |
T |
15: 78,939,662 (GRCm39) |
F176I |
probably benign |
Het |
Ano3 |
T |
A |
2: 110,576,239 (GRCm39) |
E94V |
possibly damaging |
Het |
Arid1b |
A |
T |
17: 5,147,859 (GRCm39) |
Q587L |
possibly damaging |
Het |
Atg2a |
G |
A |
19: 6,307,487 (GRCm39) |
V1474M |
probably benign |
Het |
Bcl2a1d |
A |
G |
9: 88,613,552 (GRCm39) |
V74A |
probably damaging |
Het |
Bmper |
A |
G |
9: 23,395,248 (GRCm39) |
I660V |
probably benign |
Het |
Cdh20 |
A |
G |
1: 104,906,814 (GRCm39) |
D547G |
probably damaging |
Het |
Cds2 |
T |
A |
2: 132,105,365 (GRCm39) |
M1K |
probably null |
Het |
Ctr9 |
T |
A |
7: 110,648,525 (GRCm39) |
Y722N |
probably damaging |
Het |
Ddx47 |
C |
T |
6: 134,995,018 (GRCm39) |
T161I |
probably benign |
Het |
Dvl3 |
T |
C |
16: 20,344,394 (GRCm39) |
Y257H |
possibly damaging |
Het |
Dzip1 |
T |
C |
14: 119,120,938 (GRCm39) |
D673G |
probably benign |
Het |
Efcab3 |
T |
A |
11: 104,630,140 (GRCm39) |
L957Q |
probably null |
Het |
Emilin2 |
T |
C |
17: 71,587,726 (GRCm39) |
M129V |
probably benign |
Het |
Eml1 |
A |
T |
12: 108,501,096 (GRCm39) |
|
probably benign |
Het |
Espnl |
A |
T |
1: 91,262,443 (GRCm39) |
D296V |
probably damaging |
Het |
Fam161a |
T |
G |
11: 22,970,798 (GRCm39) |
S109R |
possibly damaging |
Het |
Fat3 |
T |
G |
9: 16,158,074 (GRCm39) |
T1179P |
possibly damaging |
Het |
Gfra1 |
A |
T |
19: 58,255,456 (GRCm39) |
N330K |
probably benign |
Het |
Gfy |
T |
C |
7: 44,827,040 (GRCm39) |
E352G |
probably benign |
Het |
Gm20775 |
A |
T |
Y: 10,641,648 (GRCm39) |
|
noncoding transcript |
Het |
Gm5885 |
T |
A |
6: 133,508,152 (GRCm39) |
|
noncoding transcript |
Het |
Gpatch11 |
T |
C |
17: 79,148,446 (GRCm39) |
L128P |
probably damaging |
Het |
H2-Q1 |
A |
G |
17: 35,539,919 (GRCm39) |
N63D |
possibly damaging |
Het |
Itgb2 |
A |
T |
10: 77,392,001 (GRCm39) |
N358I |
probably benign |
Het |
Jmjd1c |
A |
G |
10: 67,080,588 (GRCm39) |
T2247A |
probably damaging |
Het |
Kcnma1 |
T |
A |
14: 23,361,720 (GRCm39) |
K1036I |
probably damaging |
Het |
Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
Lrch1 |
G |
T |
14: 75,056,018 (GRCm39) |
S278R |
probably damaging |
Het |
Lrp2 |
C |
A |
2: 69,262,526 (GRCm39) |
|
probably null |
Het |
Lyn |
G |
A |
4: 3,789,796 (GRCm39) |
R443H |
probably damaging |
Het |
Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
Mpzl1 |
G |
A |
1: 165,433,376 (GRCm39) |
Q36* |
probably null |
Het |
Msantd5 |
A |
G |
11: 51,125,646 (GRCm39) |
N190D |
possibly damaging |
Het |
Npr2 |
T |
C |
4: 43,646,592 (GRCm39) |
S647P |
probably damaging |
Het |
Nrp2 |
A |
G |
1: 62,777,576 (GRCm39) |
D127G |
probably damaging |
Het |
Otogl |
A |
T |
10: 107,705,396 (GRCm39) |
C644S |
probably damaging |
Het |
Pabpc4 |
C |
T |
4: 123,184,060 (GRCm39) |
T191I |
probably damaging |
Het |
Paqr3 |
T |
C |
5: 97,247,455 (GRCm39) |
T218A |
probably benign |
Het |
Pcdh7 |
C |
T |
5: 57,879,361 (GRCm39) |
S972L |
possibly damaging |
Het |
Pcnx2 |
T |
C |
8: 126,489,590 (GRCm39) |
H1668R |
probably damaging |
Het |
Prb1b |
T |
G |
6: 132,290,624 (GRCm39) |
Y25S |
unknown |
Het |
Ralb |
A |
G |
1: 119,411,282 (GRCm39) |
M19T |
probably benign |
Het |
Rcan1 |
A |
G |
16: 92,190,384 (GRCm39) |
I185T |
probably benign |
Het |
Rnf38 |
A |
T |
4: 44,149,100 (GRCm39) |
N82K |
possibly damaging |
Het |
Rock1 |
T |
A |
18: 10,079,237 (GRCm39) |
Q1077L |
probably damaging |
Het |
Sesn3 |
C |
T |
9: 14,231,669 (GRCm39) |
A200V |
probably damaging |
Het |
Shh |
T |
C |
5: 28,663,187 (GRCm39) |
E327G |
probably benign |
Het |
Shmt2 |
G |
A |
10: 127,354,686 (GRCm39) |
A333V |
probably damaging |
Het |
Slc15a2 |
T |
A |
16: 36,592,390 (GRCm39) |
I256F |
probably benign |
Het |
Sptbn5 |
T |
C |
2: 119,913,680 (GRCm39) |
|
noncoding transcript |
Het |
Sst |
A |
G |
16: 23,708,565 (GRCm39) |
S89P |
probably damaging |
Het |
Taf10 |
A |
G |
7: 105,392,614 (GRCm39) |
|
probably benign |
Het |
Tas2r139 |
T |
A |
6: 42,118,689 (GRCm39) |
W274R |
probably damaging |
Het |
Tbc1d20 |
T |
A |
2: 152,150,114 (GRCm39) |
|
probably benign |
Het |
Tbc1d5 |
A |
G |
17: 51,089,429 (GRCm39) |
S584P |
probably damaging |
Het |
Tcstv1a |
T |
C |
13: 120,355,407 (GRCm39) |
D75G |
probably damaging |
Het |
Tex10 |
T |
G |
4: 48,452,039 (GRCm39) |
T696P |
possibly damaging |
Het |
Tgfbr1 |
T |
C |
4: 47,402,863 (GRCm39) |
F206S |
probably damaging |
Het |
Tmem241 |
A |
T |
18: 12,246,496 (GRCm39) |
H51Q |
probably benign |
Het |
Trim5 |
A |
T |
7: 103,926,015 (GRCm39) |
V182D |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Txnl1 |
A |
G |
18: 63,804,750 (GRCm39) |
V248A |
possibly damaging |
Het |
Ubr5 |
A |
G |
15: 38,041,817 (GRCm39) |
V204A |
probably benign |
Het |
Ugp2 |
C |
T |
11: 21,279,026 (GRCm39) |
V387I |
probably damaging |
Het |
Usp34 |
A |
T |
11: 23,270,727 (GRCm39) |
Y37F |
possibly damaging |
Het |
Zfp943 |
A |
T |
17: 22,212,104 (GRCm39) |
I397F |
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 |
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 |
|
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'- TTTGCCAACCTTGAGACTCTATGG -3'
(R):5'- GGATGGAAGCTGCCAACATTC -3'
Sequencing Primer
(F):5'- AACCTTGAGACTCTATGGGTCTTTC -3'
(R):5'- TGCCAACATTCTCTGGAAGG -3'
|
Posted On |
2015-07-07 |