Incidental Mutation 'R4624:Unc45b'
| ID |
346432 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc45b
|
| Ensembl Gene |
ENSMUSG00000018845 |
| Gene Name |
unc-45 myosin chaperone B |
| Synonyms |
UNC45, Cmya4, D230041A13Rik |
| MMRRC Submission |
041889-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4624 (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 82816835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 425
(M425K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018989]
[ENSMUST00000108160]
[ENSMUST00000164945]
|
| AlphaFold |
Q8CGY6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018989
AA Change: M425K
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000018989
Gene: ENSMUSG00000018845
AA Change: M425K
| 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
AA Change: M425K
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103795
Gene: ENSMUSG00000018845
AA Change: M425K
| 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: ENSMUST00000125499
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156395
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164945
AA Change: M425K
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000129405
Gene: ENSMUSG00000018845
AA Change: M425K
| 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 |
0.1044 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
93% (85/91) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730409E04Rik |
A |
G |
4: 126,505,873 (GRCm39) |
T134A |
possibly damaging |
Het |
| Adamts18 |
C |
T |
8: 114,499,800 (GRCm39) |
W371* |
probably null |
Het |
| Adgb |
C |
A |
10: 10,278,748 (GRCm39) |
V267L |
probably benign |
Het |
| Akr1c13 |
G |
T |
13: 4,247,869 (GRCm39) |
V214F |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Ankrd52 |
A |
G |
10: 128,225,128 (GRCm39) |
H863R |
probably damaging |
Het |
| Ap3b1 |
A |
G |
13: 94,619,734 (GRCm39) |
R766G |
unknown |
Het |
| Apol7c |
A |
G |
15: 77,410,595 (GRCm39) |
F117S |
probably damaging |
Het |
| Bcr |
A |
T |
10: 74,989,752 (GRCm39) |
E716V |
probably damaging |
Het |
| Borcs6 |
T |
C |
11: 68,951,423 (GRCm39) |
L267P |
probably damaging |
Het |
| Ccdc184 |
A |
T |
15: 98,066,638 (GRCm39) |
N148Y |
probably benign |
Het |
| Ccdc50 |
A |
G |
16: 27,255,351 (GRCm39) |
K223R |
probably null |
Het |
| Cd2 |
T |
G |
3: 101,194,747 (GRCm39) |
K114Q |
probably benign |
Het |
| Cdh19 |
T |
C |
1: 110,859,981 (GRCm39) |
K167E |
probably benign |
Het |
| Cep131 |
T |
C |
11: 119,961,658 (GRCm39) |
E558G |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,200,059 (GRCm39) |
V3423E |
probably damaging |
Het |
| Cnot6l |
A |
G |
5: 96,225,070 (GRCm39) |
V541A |
probably benign |
Het |
| Cntn5 |
A |
T |
9: 9,704,809 (GRCm39) |
C663* |
probably null |
Het |
| Dnaaf4 |
A |
G |
9: 72,871,453 (GRCm39) |
I238V |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,456,913 (GRCm39) |
I893T |
possibly damaging |
Het |
| Dop1a |
G |
A |
9: 86,403,578 (GRCm39) |
V129M |
probably damaging |
Het |
| Exoc6b |
A |
G |
6: 84,831,791 (GRCm39) |
|
probably benign |
Het |
| Ext2 |
A |
G |
2: 93,533,545 (GRCm39) |
V671A |
probably benign |
Het |
| Fcamr |
T |
G |
1: 130,730,999 (GRCm39) |
L28R |
probably damaging |
Het |
| Fer1l6 |
T |
C |
15: 58,425,554 (GRCm39) |
I144T |
probably damaging |
Het |
| Frem1 |
A |
G |
4: 82,907,343 (GRCm39) |
L839P |
probably damaging |
Het |
| Fscn2 |
A |
T |
11: 120,258,169 (GRCm39) |
I364F |
probably benign |
Het |
| Gm10291 |
T |
C |
3: 78,824,581 (GRCm39) |
|
noncoding transcript |
Het |
| Gm29125 |
T |
C |
1: 80,362,676 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2b |
T |
C |
6: 135,710,823 (GRCm39) |
M908V |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,881,101 (GRCm39) |
E436G |
probably damaging |
Het |
| Hfe |
A |
T |
13: 23,890,061 (GRCm39) |
C149* |
probably null |
Het |
| Hs1bp3 |
T |
C |
12: 8,386,357 (GRCm39) |
V253A |
probably benign |
Het |
| Kat14 |
A |
G |
2: 144,246,140 (GRCm39) |
|
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kcnh3 |
T |
A |
15: 99,124,253 (GRCm39) |
D47E |
probably damaging |
Het |
| Kcp |
A |
G |
6: 29,482,813 (GRCm39) |
F1419L |
possibly damaging |
Het |
| Kera |
A |
G |
10: 97,445,493 (GRCm39) |
N284S |
probably benign |
Het |
| Klhl24 |
A |
G |
16: 19,938,873 (GRCm39) |
D476G |
probably damaging |
Het |
| Krt79 |
T |
A |
15: 101,848,241 (GRCm39) |
T137S |
possibly damaging |
Het |
| Lilrb4a |
A |
G |
10: 51,367,584 (GRCm39) |
Y42C |
probably damaging |
Het |
| Lnx1 |
C |
T |
5: 74,821,121 (GRCm39) |
|
probably benign |
Het |
| Map3k14 |
A |
G |
11: 103,121,927 (GRCm39) |
Y497H |
probably damaging |
Het |
| Mmut |
G |
A |
17: 41,257,946 (GRCm39) |
E371K |
probably damaging |
Het |
| Nkx2-6 |
A |
G |
14: 69,412,375 (GRCm39) |
Q181R |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,368,093 (GRCm39) |
K631R |
possibly damaging |
Het |
| Or5an10 |
C |
T |
19: 12,276,347 (GRCm39) |
V50I |
probably benign |
Het |
| Pcdh9 |
T |
A |
14: 94,123,845 (GRCm39) |
N775I |
probably damaging |
Het |
| Phkb |
T |
A |
8: 86,575,341 (GRCm39) |
|
probably benign |
Het |
| Pick1 |
T |
A |
15: 79,130,666 (GRCm39) |
I250N |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,059,335 (GRCm39) |
E3556G |
probably damaging |
Het |
| Prex2 |
C |
T |
1: 11,359,489 (GRCm39) |
Q1566* |
probably null |
Het |
| Ptgr2 |
T |
G |
12: 84,355,128 (GRCm39) |
F287L |
possibly damaging |
Het |
| Ptprv |
T |
C |
1: 135,051,869 (GRCm39) |
|
noncoding transcript |
Het |
| Rab5b |
G |
T |
10: 128,519,130 (GRCm39) |
H83Q |
probably benign |
Het |
| Ranbp6 |
A |
T |
19: 29,788,263 (GRCm39) |
Y696* |
probably null |
Het |
| Rapgef3 |
G |
T |
15: 97,656,810 (GRCm39) |
D318E |
probably damaging |
Het |
| Rmi1 |
A |
G |
13: 58,556,950 (GRCm39) |
R400G |
probably benign |
Het |
| Rsrc1 |
T |
C |
3: 67,257,311 (GRCm39) |
V241A |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 12,121,301 (GRCm39) |
I11N |
possibly damaging |
Het |
| S100a11 |
T |
C |
3: 93,433,321 (GRCm39) |
L55P |
probably damaging |
Het |
| Sec13 |
A |
G |
6: 113,706,652 (GRCm39) |
S254P |
probably benign |
Het |
| Slc25a36 |
G |
A |
9: 96,961,178 (GRCm39) |
T147I |
probably damaging |
Het |
| Spata31d1c |
A |
G |
13: 65,184,411 (GRCm39) |
E651G |
probably benign |
Het |
| Stox2 |
C |
A |
8: 47,646,851 (GRCm39) |
R203L |
probably damaging |
Het |
| Tbc1d30 |
A |
T |
10: 121,132,691 (GRCm39) |
D224E |
probably damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,936,881 (GRCm39) |
L1389P |
probably damaging |
Het |
| Tmprss11b |
T |
C |
5: 86,812,895 (GRCm39) |
S134G |
probably benign |
Het |
| Tmtc2 |
A |
T |
10: 105,139,511 (GRCm39) |
S672T |
probably benign |
Het |
| Tnnt1 |
G |
A |
7: 4,515,267 (GRCm39) |
|
probably benign |
Het |
| Tpst2 |
A |
G |
5: 112,456,162 (GRCm39) |
M234V |
probably damaging |
Het |
| Ttbk2 |
T |
C |
2: 120,603,804 (GRCm39) |
D208G |
probably benign |
Het |
| Ube2c |
A |
G |
2: 164,614,093 (GRCm39) |
N143S |
possibly damaging |
Het |
| Uvssa |
G |
A |
5: 33,547,300 (GRCm39) |
E289K |
possibly damaging |
Het |
| Vmn2r11 |
T |
A |
5: 109,200,101 (GRCm39) |
R451W |
probably damaging |
Het |
| Vmn2r45 |
T |
C |
7: 8,484,341 (GRCm39) |
Y488C |
probably damaging |
Het |
| Vmn2r55 |
T |
A |
7: 12,404,627 (GRCm39) |
I259F |
possibly damaging |
Het |
| Wdfy3 |
C |
T |
5: 102,031,949 (GRCm39) |
R2277Q |
possibly damaging |
Het |
| Wdr64 |
T |
G |
1: 175,599,829 (GRCm39) |
M111R |
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 |
|
|
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'- TGAAGGTCAATGTGCTGTCAG -3'
(R):5'- GCGTGCGGATCTTGATCTTCTC -3'
Sequencing Primer
(F):5'- ATACCCTGTGAGCAGCCATGATG -3'
(R):5'- CTCATTCTTTGTGGTCTTGTAGATC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation