Incidental Mutation 'R6616:Unc45b'
| ID |
524077 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc45b
|
| Ensembl Gene |
ENSMUSG00000018845 |
| Gene Name |
unc-45 myosin chaperone B |
| Synonyms |
UNC45, Cmya4, D230041A13Rik |
| MMRRC Submission |
044739-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6616 (G1)
|
| Quality Score |
187.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
82802112-82834284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 82802645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 47
(R47Q)
|
| 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: R47Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000018989
Gene: ENSMUSG00000018845
AA Change: R47Q
| 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: R47Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103795
Gene: ENSMUSG00000018845
AA Change: R47Q
| 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: ENSMUST00000126202
|
| SMART Domains |
Protein: ENSMUSP00000130605
Gene: ENSMUSG00000020692
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1flga_
|
12 |
46 |
2e-5 |
SMART |
|
Blast:WD40
|
22 |
48 |
2e-10 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147915
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164945
AA Change: R47Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129405
Gene: ENSMUSG00000018845
AA Change: R47Q
| 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 |
0.1678 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
100% (51/51) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
T |
17: 24,603,509 (GRCm39) |
H567L |
probably damaging |
Het |
| Adck1 |
T |
A |
12: 88,427,958 (GRCm39) |
M525K |
unknown |
Het |
| Alpi |
T |
C |
1: 87,028,836 (GRCm39) |
I74V |
possibly damaging |
Het |
| Ccdc168 |
C |
A |
1: 44,100,634 (GRCm39) |
V155L |
possibly damaging |
Het |
| Creb5 |
A |
C |
6: 53,662,295 (GRCm39) |
Q197H |
possibly damaging |
Het |
| Cyp2b13 |
A |
G |
7: 25,785,306 (GRCm39) |
K225R |
probably benign |
Het |
| Dock1 |
G |
A |
7: 134,710,221 (GRCm39) |
E1143K |
possibly damaging |
Het |
| Eef2kmt |
T |
A |
16: 5,065,346 (GRCm39) |
D287V |
probably damaging |
Het |
| Eif2ak4 |
T |
A |
2: 118,285,326 (GRCm39) |
Y1046* |
probably null |
Het |
| Fbxw10 |
T |
A |
11: 62,743,850 (GRCm39) |
M252K |
probably benign |
Het |
| Fnip2 |
A |
C |
3: 79,388,189 (GRCm39) |
H847Q |
probably benign |
Het |
| Frmd3 |
A |
T |
4: 74,105,725 (GRCm39) |
D457V |
probably damaging |
Het |
| Gm13941 |
T |
G |
2: 110,931,520 (GRCm39) |
E37D |
unknown |
Het |
| Grin1 |
T |
A |
2: 25,182,122 (GRCm39) |
I870F |
possibly damaging |
Het |
| Grin2b |
A |
C |
6: 135,709,549 (GRCm39) |
D1332E |
probably benign |
Het |
| Gtpbp4 |
G |
A |
13: 9,039,141 (GRCm39) |
T201I |
possibly damaging |
Het |
| Heatr4 |
A |
G |
12: 84,026,904 (GRCm39) |
C118R |
probably benign |
Het |
| Hltf |
T |
A |
3: 20,163,651 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
C |
T |
1: 150,599,008 (GRCm39) |
|
probably null |
Het |
| Hpd |
A |
T |
5: 123,310,123 (GRCm39) |
L367Q |
probably damaging |
Het |
| Htr1b |
A |
G |
9: 81,514,487 (GRCm39) |
I40T |
probably benign |
Het |
| Il16 |
A |
G |
7: 83,295,684 (GRCm39) |
S464P |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,589,643 (GRCm39) |
D75V |
unknown |
Het |
| Map3k4 |
A |
T |
17: 12,490,231 (GRCm39) |
L400Q |
probably damaging |
Het |
| Mcts2 |
T |
A |
2: 152,529,582 (GRCm39) |
I131N |
possibly damaging |
Het |
| Mroh2b |
A |
C |
15: 4,982,764 (GRCm39) |
I1528L |
probably benign |
Het |
| Muc4 |
A |
C |
16: 32,602,378 (GRCm39) |
D3467A |
possibly damaging |
Het |
| Mypn |
A |
T |
10: 63,005,091 (GRCm39) |
C339S |
probably damaging |
Het |
| Ncoa5 |
A |
T |
2: 164,852,483 (GRCm39) |
Y130* |
probably null |
Het |
| Or11g27 |
T |
A |
14: 50,771,364 (GRCm39) |
I165N |
probably benign |
Het |
| Or2y11 |
T |
A |
11: 49,442,868 (GRCm39) |
V98E |
probably damaging |
Het |
| Pcdha4 |
A |
G |
18: 37,086,953 (GRCm39) |
T379A |
probably benign |
Het |
| Pkp4 |
C |
G |
2: 59,180,896 (GRCm39) |
Y720* |
probably null |
Het |
| Prl5a1 |
C |
T |
13: 28,333,839 (GRCm39) |
T114I |
probably benign |
Het |
| Rnd3 |
A |
G |
2: 51,024,169 (GRCm39) |
S137P |
probably damaging |
Het |
| Rtel1 |
G |
A |
2: 180,994,579 (GRCm39) |
E680K |
possibly damaging |
Het |
| Sbsn |
T |
A |
7: 30,452,704 (GRCm39) |
V573D |
possibly damaging |
Het |
| Scaf8 |
A |
T |
17: 3,218,330 (GRCm39) |
L233F |
unknown |
Het |
| Sec23a |
A |
T |
12: 59,043,941 (GRCm39) |
I241K |
possibly damaging |
Het |
| Secisbp2l |
A |
T |
2: 125,610,146 (GRCm39) |
S258T |
probably damaging |
Het |
| Skint4 |
A |
G |
4: 111,975,427 (GRCm39) |
H121R |
possibly damaging |
Het |
| Sptbn1 |
T |
A |
11: 30,074,030 (GRCm39) |
E1346D |
probably benign |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Stpg4 |
A |
G |
17: 87,730,124 (GRCm39) |
Y74H |
probably damaging |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Tmc4 |
A |
G |
7: 3,674,057 (GRCm39) |
V374A |
possibly damaging |
Het |
| Xirp1 |
A |
G |
9: 119,848,080 (GRCm39) |
S268P |
probably damaging |
Het |
| Zfp990 |
A |
T |
4: 145,263,715 (GRCm39) |
I238L |
probably benign |
Het |
| Zswim5 |
A |
G |
4: 116,843,938 (GRCm39) |
D992G |
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 |
|
|
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 |
|
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'- CTAAAAGCCTTGTCCTGGGTG -3'
(R):5'- TTCCTGCTTCTCTAGAGCAGTGG -3'
Sequencing Primer
(F):5'- TGGGTGTCCAGCAAAAGGC -3'
(R):5'- CAGTGGCCGGGGTAACAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation