Incidental Mutation 'R9004:Unc45b'
| ID |
685158 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc45b
|
| Ensembl Gene |
ENSMUSG00000018845 |
| Gene Name |
unc-45 myosin chaperone B |
| Synonyms |
UNC45, Cmya4, D230041A13Rik |
| MMRRC Submission |
068834-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9004 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
82802112-82834284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82819515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 496
(D496G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018989
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018989]
[ENSMUST00000108160]
[ENSMUST00000164945]
|
| AlphaFold |
Q8CGY6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018989
AA Change: D496G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000018989
Gene: ENSMUSG00000018845
AA Change: D496G
| 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: D496G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103795
Gene: ENSMUSG00000018845
AA Change: D496G
| 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 damaging
Transcript: ENSMUST00000164945
AA Change: D496G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129405
Gene: ENSMUSG00000018845
AA Change: D496G
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.3%
|
| Validation Efficiency |
100% (69/69) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
T |
A |
10: 100,454,197 (GRCm39) |
|
probably benign |
Het |
| 2310057N15Rik |
C |
A |
16: 88,570,986 (GRCm39) |
C18F |
probably damaging |
Het |
| Abca7 |
T |
A |
10: 79,841,483 (GRCm39) |
M941K |
probably damaging |
Het |
| Abcd2 |
A |
G |
15: 91,075,051 (GRCm39) |
I254T |
probably benign |
Het |
| Abcg8 |
C |
A |
17: 85,004,790 (GRCm39) |
T519K |
probably benign |
Het |
| Adcy9 |
A |
G |
16: 4,106,378 (GRCm39) |
V1149A |
probably damaging |
Het |
| Alg10b |
A |
G |
15: 90,109,894 (GRCm39) |
Y69C |
probably damaging |
Het |
| Arhgef10l |
T |
C |
4: 140,279,921 (GRCm39) |
D529G |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,718,276 (GRCm39) |
C1990S |
probably benign |
Het |
| BC034090 |
T |
A |
1: 155,102,138 (GRCm39) |
N42I |
possibly damaging |
Het |
| Bptf |
G |
A |
11: 106,945,713 (GRCm39) |
P2509S |
probably damaging |
Het |
| Carmil1 |
T |
A |
13: 24,225,662 (GRCm39) |
D1042V |
probably damaging |
Het |
| Ccny |
A |
G |
18: 9,332,883 (GRCm39) |
V216A |
possibly damaging |
Het |
| Cdr2 |
T |
C |
7: 120,557,722 (GRCm39) |
N268D |
probably benign |
Het |
| Cep152 |
T |
C |
2: 125,453,020 (GRCm39) |
S351G |
probably benign |
Het |
| Chrm1 |
T |
C |
19: 8,655,909 (GRCm39) |
C205R |
possibly damaging |
Het |
| Dalrd3 |
C |
A |
9: 108,449,430 (GRCm39) |
D454E |
probably benign |
Het |
| Dmbt1 |
T |
C |
7: 130,713,798 (GRCm39) |
L1622P |
unknown |
Het |
| Eif2s2 |
A |
G |
2: 154,720,404 (GRCm39) |
Y172H |
probably benign |
Het |
| Ell |
T |
A |
8: 71,031,604 (GRCm39) |
S101T |
probably damaging |
Het |
| Faf1 |
A |
G |
4: 109,698,550 (GRCm39) |
T337A |
probably benign |
Het |
| Fhad1 |
A |
T |
4: 141,649,735 (GRCm39) |
|
probably benign |
Het |
| Gen1 |
T |
C |
12: 11,305,022 (GRCm39) |
|
probably benign |
Het |
| Gfap |
A |
G |
11: 102,782,268 (GRCm39) |
I414T |
probably benign |
Het |
| Ginm1 |
A |
C |
10: 7,651,019 (GRCm39) |
V129G |
probably damaging |
Het |
| Helq |
C |
T |
5: 100,926,598 (GRCm39) |
|
probably benign |
Het |
| Hoxb3 |
A |
G |
11: 96,237,137 (GRCm39) |
D405G |
possibly damaging |
Het |
| Hsp90aa1 |
A |
G |
12: 110,659,045 (GRCm39) |
V584A |
probably damaging |
Het |
| Iglc2 |
T |
C |
16: 19,017,425 (GRCm39) |
K59R |
probably benign |
Het |
| Inhba |
T |
C |
13: 16,201,526 (GRCm39) |
S363P |
probably benign |
Het |
| Kif1c |
A |
G |
11: 70,615,958 (GRCm39) |
K656E |
probably benign |
Het |
| Mroh4 |
G |
T |
15: 74,486,171 (GRCm39) |
L492I |
possibly damaging |
Het |
| Mthfd1 |
C |
T |
12: 76,350,754 (GRCm39) |
T712M |
probably benign |
Het |
| Naaladl1 |
C |
A |
19: 6,155,965 (GRCm39) |
D46E |
probably damaging |
Het |
| Nbea |
C |
T |
3: 55,910,359 (GRCm39) |
V1279I |
probably benign |
Het |
| Nceh1 |
T |
A |
3: 27,293,726 (GRCm39) |
D161E |
possibly damaging |
Het |
| Nck2 |
A |
T |
1: 43,593,510 (GRCm39) |
N239I |
|
Het |
| Nlrx1 |
C |
T |
9: 44,167,644 (GRCm39) |
R751H |
probably benign |
Het |
| Or10ag54 |
T |
A |
2: 87,099,695 (GRCm39) |
F190Y |
possibly damaging |
Het |
| Or8b46 |
A |
G |
9: 38,450,530 (GRCm39) |
Y113C |
probably benign |
Het |
| Or8g17 |
C |
A |
9: 38,930,580 (GRCm39) |
V86L |
probably benign |
Het |
| Oscar |
A |
T |
7: 3,619,040 (GRCm39) |
C13S |
possibly damaging |
Het |
| Pappa2 |
T |
A |
1: 158,763,979 (GRCm39) |
I511F |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,764,518 (GRCm39) |
D331G |
possibly damaging |
Het |
| Pde4c |
C |
T |
8: 71,199,515 (GRCm39) |
S265L |
possibly damaging |
Het |
| Pex1 |
A |
G |
5: 3,662,914 (GRCm39) |
S502G |
probably benign |
Het |
| Pigl |
A |
G |
11: 62,403,779 (GRCm39) |
Y237C |
probably damaging |
Het |
| Pkd1 |
A |
T |
17: 24,799,421 (GRCm39) |
Q2880L |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,406,768 (GRCm39) |
H2335L |
probably benign |
Het |
| Ppp1r17 |
A |
G |
6: 56,008,513 (GRCm39) |
E151G |
probably damaging |
Het |
| Ppp1r27 |
A |
G |
11: 120,441,849 (GRCm39) |
Y11H |
probably damaging |
Het |
| Prss54 |
C |
A |
8: 96,292,137 (GRCm39) |
K147N |
possibly damaging |
Het |
| Ptchd3 |
T |
A |
11: 121,732,687 (GRCm39) |
F526I |
possibly damaging |
Het |
| Ptprt |
T |
C |
2: 161,608,314 (GRCm39) |
N661D |
probably benign |
Het |
| Rfpl4b |
T |
C |
10: 38,697,771 (GRCm39) |
|
probably benign |
Het |
| Sdad1 |
T |
C |
5: 92,439,820 (GRCm39) |
T402A |
probably benign |
Het |
| Stk32c |
T |
C |
7: 138,702,859 (GRCm39) |
D178G |
probably damaging |
Het |
| Tas2r119 |
T |
C |
15: 32,178,109 (GRCm39) |
L225P |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,018 (GRCm39) |
E105V |
probably benign |
Het |
| Tlk1 |
A |
G |
2: 70,552,290 (GRCm39) |
I520T |
probably damaging |
Het |
| Tmf1 |
A |
G |
6: 97,152,738 (GRCm39) |
V445A |
probably benign |
Het |
| Tomm6 |
T |
C |
17: 47,998,833 (GRCm39) |
D40G |
possibly damaging |
Het |
| Traf6 |
C |
A |
2: 101,520,443 (GRCm39) |
Q164K |
probably benign |
Het |
| Tspoap1 |
A |
G |
11: 87,670,284 (GRCm39) |
H150R |
|
Het |
| Ube2g2 |
A |
T |
10: 77,479,434 (GRCm39) |
M126L |
probably benign |
Het |
| Vmn1r74 |
A |
C |
7: 11,580,840 (GRCm39) |
I47L |
probably benign |
Het |
| Vmn2r88 |
A |
T |
14: 51,650,624 (GRCm39) |
L112F |
|
Het |
| Wwc2 |
A |
C |
8: 48,373,732 (GRCm39) |
L45V |
probably damaging |
Het |
| Zfp459 |
A |
C |
13: 67,556,714 (GRCm39) |
I123R |
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 |
|
|
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 |
|
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'- AAATGGTGAAGACCTGTGGC -3'
(R):5'- CTCTGACCAACAGTGACTGAGG -3'
Sequencing Primer
(F):5'- TCTTCCCACATCGGAGAACGG -3'
(R):5'- CTGAGGTTCAGGATAACAGGTAGCC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation