Incidental Mutation 'IGL02165:Unc45b'
| ID |
282687 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Unc45b
|
| Ensembl Gene |
ENSMUSG00000018845 |
| Gene Name |
unc-45 myosin chaperone B |
| Synonyms |
UNC45, Cmya4, D230041A13Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02165
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
82802112-82834284 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 82831007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018989]
[ENSMUST00000108160]
[ENSMUST00000164945]
|
| AlphaFold |
Q8CGY6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018989
|
| SMART Domains |
Protein: ENSMUSP00000018989
Gene: ENSMUSG00000018845
| 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
|
| SMART Domains |
Protein: ENSMUSP00000103795
Gene: ENSMUSG00000018845
| 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: ENSMUST00000127074
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142336
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164945
|
| SMART Domains |
Protein: ENSMUSP00000129405
Gene: ENSMUSG00000018845
| 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 |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
A |
19: 31,904,586 (GRCm39) |
M199K |
possibly damaging |
Het |
| Abo |
C |
A |
2: 26,733,441 (GRCm39) |
V255L |
probably damaging |
Het |
| Alas1 |
A |
T |
9: 106,115,982 (GRCm39) |
M344K |
probably damaging |
Het |
| Ap1m1 |
A |
G |
8: 73,003,653 (GRCm39) |
I118V |
probably benign |
Het |
| Ap5m1 |
A |
T |
14: 49,316,185 (GRCm39) |
I252F |
possibly damaging |
Het |
| Arhgef2 |
G |
A |
3: 88,553,527 (GRCm39) |
R886H |
probably damaging |
Het |
| Atp13a4 |
T |
C |
16: 29,252,828 (GRCm39) |
E706G |
probably damaging |
Het |
| Baz2a |
C |
A |
10: 127,955,218 (GRCm39) |
A775E |
probably benign |
Het |
| C3 |
A |
T |
17: 57,532,092 (GRCm39) |
F210I |
probably benign |
Het |
| Casq1 |
A |
G |
1: 172,040,948 (GRCm39) |
L280P |
probably damaging |
Het |
| Cebpz |
A |
G |
17: 79,229,598 (GRCm39) |
F919L |
probably damaging |
Het |
| Commd1b |
A |
T |
11: 22,932,072 (GRCm39) |
|
probably benign |
Het |
| Dclre1c |
T |
A |
2: 3,451,418 (GRCm39) |
|
probably benign |
Het |
| Dsc3 |
T |
G |
18: 20,116,709 (GRCm39) |
M276L |
probably benign |
Het |
| Dync2i2 |
T |
C |
2: 29,922,172 (GRCm39) |
T430A |
probably benign |
Het |
| Eftud2 |
A |
G |
11: 102,742,573 (GRCm39) |
|
probably benign |
Het |
| Elfn2 |
T |
A |
15: 78,557,618 (GRCm39) |
T310S |
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,525,592 (GRCm39) |
K1472R |
probably benign |
Het |
| Fbxl2 |
T |
C |
9: 113,847,099 (GRCm39) |
D8G |
probably benign |
Het |
| Galnt5 |
T |
A |
2: 57,888,877 (GRCm39) |
M159K |
probably benign |
Het |
| Hars2 |
T |
A |
18: 36,916,447 (GRCm39) |
M1K |
probably null |
Het |
| Hk1 |
T |
C |
10: 62,117,667 (GRCm39) |
T619A |
probably damaging |
Het |
| Ifi44 |
C |
T |
3: 151,455,067 (GRCm39) |
V53M |
probably damaging |
Het |
| Ippk |
T |
A |
13: 49,600,011 (GRCm39) |
V339D |
possibly damaging |
Het |
| Kcnma1 |
G |
T |
14: 23,387,035 (GRCm39) |
N875K |
possibly damaging |
Het |
| Kdm5a |
T |
A |
6: 120,392,251 (GRCm39) |
V991E |
probably damaging |
Het |
| Larp6 |
A |
G |
9: 60,620,595 (GRCm39) |
E36G |
probably benign |
Het |
| Lonp2 |
A |
T |
8: 87,435,654 (GRCm39) |
D210V |
probably damaging |
Het |
| Lrrc4c |
G |
A |
2: 97,459,378 (GRCm39) |
M1I |
probably null |
Het |
| Mmp2 |
A |
G |
8: 93,559,847 (GRCm39) |
K270R |
probably null |
Het |
| Nexmif |
C |
T |
X: 103,128,360 (GRCm39) |
V1186I |
probably benign |
Het |
| Or11g2 |
A |
G |
14: 50,856,468 (GRCm39) |
Y263C |
probably damaging |
Het |
| Or1x2 |
A |
T |
11: 50,918,470 (GRCm39) |
I214F |
probably benign |
Het |
| Pld2 |
T |
C |
11: 70,446,503 (GRCm39) |
L763P |
probably damaging |
Het |
| Pold1 |
A |
T |
7: 44,187,484 (GRCm39) |
F644L |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,104,652 (GRCm39) |
S1377P |
probably damaging |
Het |
| Rps18-ps6 |
T |
G |
13: 97,896,648 (GRCm39) |
K150T |
probably benign |
Het |
| Rttn |
A |
G |
18: 89,061,165 (GRCm39) |
D1111G |
probably benign |
Het |
| Slc27a5 |
A |
G |
7: 12,728,875 (GRCm39) |
V130A |
probably damaging |
Het |
| Slfn8 |
T |
C |
11: 82,908,022 (GRCm39) |
R174G |
probably benign |
Het |
| Slitrk6 |
G |
A |
14: 110,989,249 (GRCm39) |
P153S |
probably benign |
Het |
| Sorcs3 |
T |
C |
19: 48,642,511 (GRCm39) |
I388T |
probably benign |
Het |
| Star |
A |
T |
8: 26,302,843 (GRCm39) |
T262S |
possibly damaging |
Het |
| Strn |
A |
T |
17: 78,995,049 (GRCm39) |
W2R |
probably damaging |
Het |
| Tnmd |
T |
C |
X: 132,763,701 (GRCm39) |
S172P |
probably damaging |
Het |
| Togaram2 |
A |
G |
17: 72,004,861 (GRCm39) |
K305R |
probably benign |
Het |
| Trhde |
C |
A |
10: 114,428,066 (GRCm39) |
W410L |
probably damaging |
Het |
| Trim5 |
C |
T |
7: 103,928,566 (GRCm39) |
R125Q |
probably damaging |
Het |
| Vmn1r80 |
T |
A |
7: 11,927,379 (GRCm39) |
M163K |
probably benign |
Het |
| Wnk4 |
C |
A |
11: 101,166,117 (GRCm39) |
|
probably benign |
Het |
| Zfp277 |
T |
A |
12: 40,365,802 (GRCm39) |
I430F |
possibly damaging |
Het |
| Zfp566 |
A |
T |
7: 29,777,255 (GRCm39) |
C309S |
probably damaging |
Het |
| Zfp740 |
T |
G |
15: 102,121,109 (GRCm39) |
F141V |
possibly damaging |
Het |
| Zfp87 |
T |
A |
13: 67,665,989 (GRCm39) |
I158F |
probably damaging |
Het |
| Zswim3 |
C |
A |
2: 164,663,035 (GRCm39) |
A505D |
possibly 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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation