Incidental Mutation 'R0195:Unc45b'
| ID |
23380 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc45b
|
| Ensembl Gene |
ENSMUSG00000018845 |
| Gene Name |
unc-45 myosin chaperone B |
| Synonyms |
UNC45, Cmya4, D230041A13Rik |
| MMRRC Submission |
038454-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0195 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
82802112-82834284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 82828654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 785
(M785K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018989]
[ENSMUST00000108160]
[ENSMUST00000164945]
|
| AlphaFold |
Q8CGY6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018989
AA Change: M783K
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000018989
Gene: ENSMUSG00000018845
AA Change: M783K
| 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 damaging
Transcript: ENSMUST00000108160
AA Change: M785K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103795
Gene: ENSMUSG00000018845
AA Change: M785K
| 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 |
noncoding transcript
Transcript: ENSMUST00000156395
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164945
AA Change: M785K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129405
Gene: ENSMUSG00000018845
AA Change: M785K
| 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 |
0.8791 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.4%
|
| Validation Efficiency |
98% (156/160) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
C |
G |
11: 100,403,800 (GRCm39) |
R362P |
possibly damaging |
Het |
| Adam24 |
T |
A |
8: 41,134,805 (GRCm39) |
W758R |
probably benign |
Het |
| Adam26b |
G |
T |
8: 43,973,307 (GRCm39) |
T565K |
probably damaging |
Het |
| Adam7 |
T |
G |
14: 68,765,076 (GRCm39) |
|
probably benign |
Het |
| Adamts19 |
A |
G |
18: 59,102,942 (GRCm39) |
|
probably benign |
Het |
| Add1 |
A |
G |
5: 34,767,990 (GRCm39) |
|
probably benign |
Het |
| Ago1 |
A |
G |
4: 126,357,484 (GRCm39) |
C64R |
probably benign |
Het |
| Ankrd12 |
C |
T |
17: 66,356,943 (GRCm39) |
|
probably null |
Het |
| Arhgef33 |
A |
G |
17: 80,688,863 (GRCm39) |
K820E |
probably damaging |
Het |
| Arl9 |
T |
C |
5: 77,154,341 (GRCm39) |
V8A |
probably damaging |
Het |
| Aspm |
T |
C |
1: 139,406,873 (GRCm39) |
L1920P |
probably damaging |
Het |
| Atad2 |
A |
G |
15: 57,963,350 (GRCm39) |
|
probably benign |
Het |
| Atp2b2 |
A |
T |
6: 113,770,835 (GRCm39) |
V358E |
probably benign |
Het |
| C3ar1 |
A |
C |
6: 122,828,114 (GRCm39) |
C34W |
possibly damaging |
Het |
| C6 |
G |
A |
15: 4,792,953 (GRCm39) |
V353M |
probably benign |
Het |
| Capn7 |
T |
C |
14: 31,087,538 (GRCm39) |
I593T |
probably damaging |
Het |
| Casc3 |
T |
A |
11: 98,712,319 (GRCm39) |
D119E |
probably damaging |
Het |
| Ccna1 |
T |
A |
3: 54,961,785 (GRCm39) |
E45V |
probably damaging |
Het |
| Cdc37 |
A |
G |
9: 21,053,576 (GRCm39) |
V180A |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,152,838 (GRCm39) |
I2393T |
probably damaging |
Het |
| Cnbd1 |
T |
C |
4: 18,906,988 (GRCm39) |
|
probably benign |
Het |
| Cngb3 |
A |
T |
4: 19,280,975 (GRCm39) |
M15L |
probably benign |
Het |
| Crygn |
A |
G |
5: 24,961,036 (GRCm39) |
M90T |
possibly damaging |
Het |
| Cse1l |
T |
A |
2: 166,782,008 (GRCm39) |
S661R |
probably benign |
Het |
| D830013O20Rik |
C |
T |
12: 73,411,095 (GRCm39) |
|
noncoding transcript |
Het |
| Ddx24 |
C |
T |
12: 103,385,220 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
A |
T |
7: 119,676,998 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
C |
T |
11: 65,786,731 (GRCm39) |
G3634E |
probably benign |
Het |
| Dnttip2 |
A |
T |
3: 122,069,810 (GRCm39) |
T342S |
probably benign |
Het |
| Evx2 |
G |
T |
2: 74,489,388 (GRCm39) |
R125S |
probably damaging |
Het |
| Fbxl5 |
A |
T |
5: 43,928,140 (GRCm39) |
L40Q |
probably damaging |
Het |
| Git1 |
T |
A |
11: 77,391,899 (GRCm39) |
D240E |
probably benign |
Het |
| Glp2r |
T |
A |
11: 67,600,534 (GRCm39) |
K438N |
probably damaging |
Het |
| Hivep1 |
T |
A |
13: 42,309,629 (GRCm39) |
I623N |
probably benign |
Het |
| Il17re |
A |
G |
6: 113,443,098 (GRCm39) |
E312G |
probably damaging |
Het |
| Itgb7 |
G |
A |
15: 102,130,618 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
A |
G |
17: 27,333,088 (GRCm39) |
Y1900C |
probably damaging |
Het |
| Krt1c |
G |
A |
15: 101,721,626 (GRCm39) |
Q472* |
probably null |
Het |
| Krtap5-1 |
A |
C |
7: 141,850,434 (GRCm39) |
C125G |
unknown |
Het |
| Macf1 |
A |
G |
4: 123,328,709 (GRCm39) |
S2554P |
probably damaging |
Het |
| Marchf10 |
C |
T |
11: 105,276,351 (GRCm39) |
G646R |
probably damaging |
Het |
| Mrpl48 |
A |
C |
7: 100,195,560 (GRCm39) |
|
probably benign |
Het |
| Myo16 |
A |
T |
8: 10,365,538 (GRCm39) |
|
probably benign |
Het |
| Nrcam |
A |
T |
12: 44,631,628 (GRCm39) |
E1060D |
probably benign |
Het |
| Nsd3 |
T |
A |
8: 26,170,709 (GRCm39) |
C731S |
probably damaging |
Het |
| Nup85 |
T |
G |
11: 115,455,357 (GRCm39) |
M1R |
probably null |
Het |
| Nxnl2 |
G |
T |
13: 51,325,483 (GRCm39) |
R42L |
probably damaging |
Het |
| Oas3 |
G |
A |
5: 120,894,210 (GRCm39) |
R39C |
probably damaging |
Het |
| Or13c25 |
G |
A |
4: 52,910,849 (GRCm39) |
T315M |
probably benign |
Het |
| Orc1 |
C |
T |
4: 108,471,505 (GRCm39) |
R786* |
probably null |
Het |
| P2ry6 |
A |
T |
7: 100,587,904 (GRCm39) |
W152R |
probably damaging |
Het |
| Pex5l |
T |
C |
3: 33,047,102 (GRCm39) |
N283D |
possibly damaging |
Het |
| Pgk2 |
T |
C |
17: 40,518,622 (GRCm39) |
I269V |
probably benign |
Het |
| Phgdh |
T |
G |
3: 98,223,866 (GRCm39) |
|
probably benign |
Het |
| Pzp |
A |
T |
6: 128,464,441 (GRCm39) |
L1362Q |
probably damaging |
Het |
| Rbbp9 |
T |
C |
2: 144,390,026 (GRCm39) |
|
probably benign |
Het |
| Rffl |
A |
G |
11: 82,700,989 (GRCm39) |
L244P |
probably damaging |
Het |
| Serpina11 |
T |
C |
12: 103,952,131 (GRCm39) |
Y213C |
probably damaging |
Het |
| Spopfm1 |
A |
G |
3: 94,173,229 (GRCm39) |
Y79C |
possibly damaging |
Het |
| Srsf11 |
A |
G |
3: 157,742,172 (GRCm39) |
|
probably benign |
Het |
| Sspo |
T |
A |
6: 48,463,570 (GRCm39) |
V3785E |
probably benign |
Het |
| Svep1 |
A |
T |
4: 58,089,514 (GRCm39) |
S1632T |
possibly damaging |
Het |
| Tm4sf1 |
T |
A |
3: 57,200,480 (GRCm39) |
D74V |
probably damaging |
Het |
| Tmprss15 |
T |
A |
16: 78,831,222 (GRCm39) |
T393S |
probably benign |
Het |
| Tnfaip3 |
A |
G |
10: 18,881,461 (GRCm39) |
L275P |
probably damaging |
Het |
| Trim30c |
A |
G |
7: 104,031,636 (GRCm39) |
V393A |
probably benign |
Het |
| Tssk2 |
T |
A |
16: 17,717,439 (GRCm39) |
S281T |
probably benign |
Het |
| Tubb4a |
A |
G |
17: 57,388,499 (GRCm39) |
S176P |
probably damaging |
Het |
| Vldlr |
A |
T |
19: 27,215,786 (GRCm39) |
D261V |
probably damaging |
Het |
| Vmn1r176 |
G |
T |
7: 23,535,010 (GRCm39) |
Q48K |
probably benign |
Het |
| Vmn2r110 |
A |
T |
17: 20,794,317 (GRCm39) |
L784Q |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,472,045 (GRCm39) |
T783A |
probably benign |
Het |
| Zfp800 |
A |
G |
6: 28,243,846 (GRCm39) |
M373T |
probably damaging |
Het |
| Zmym1 |
A |
G |
4: 126,941,704 (GRCm39) |
F895L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGTTCACTGCTGGGGACTCAAG -3'
(R):5'- GTAAATGGCACCTTCCACCTCACTC -3'
Sequencing Primer
(F):5'- GGACTCAAGGCCCCTTCTTC -3'
(R):5'- AAAATGTTTCCTGAGGGCTCC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation