Incidental Mutation 'R8235:Unc45b'
ID |
637320 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Unc45b
|
Ensembl Gene |
ENSMUSG00000018845 |
Gene Name |
unc-45 myosin chaperone B |
Synonyms |
UNC45, Cmya4, D230041A13Rik |
MMRRC Submission |
067667-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8235 (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 82810681 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 314
(I314V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000018989
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018989]
[ENSMUST00000108160]
[ENSMUST00000164945]
|
AlphaFold |
Q8CGY6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000018989
AA Change: I314V
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000018989 Gene: ENSMUSG00000018845 AA Change: I314V
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: I314V
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000103795 Gene: ENSMUSG00000018845 AA Change: I314V
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: ENSMUST00000164945
AA Change: I314V
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000129405 Gene: ENSMUSG00000018845 AA Change: I314V
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: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.8%
|
Validation Efficiency |
98% (44/45) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
C |
11: 9,212,077 (GRCm39) |
Q279H |
probably damaging |
Het |
Abhd13 |
G |
A |
8: 10,037,394 (GRCm39) |
|
probably benign |
Het |
Atp8b3 |
T |
C |
10: 80,365,650 (GRCm39) |
N368S |
probably damaging |
Het |
Bptf |
A |
G |
11: 106,967,458 (GRCm39) |
M1089T |
probably benign |
Het |
Cbll1 |
C |
T |
12: 31,541,570 (GRCm39) |
D103N |
probably benign |
Het |
Ccnd2 |
T |
C |
6: 127,107,305 (GRCm39) |
D288G |
probably benign |
Het |
Chek1 |
T |
A |
9: 36,630,870 (GRCm39) |
R181S |
probably benign |
Het |
Chrna7 |
T |
C |
7: 62,861,972 (GRCm39) |
R27G |
probably damaging |
Het |
Crybb1 |
A |
G |
5: 112,405,266 (GRCm39) |
K6R |
probably damaging |
Het |
Ehbp1 |
G |
A |
11: 22,189,153 (GRCm39) |
T83M |
probably damaging |
Het |
Entpd7 |
G |
A |
19: 43,705,984 (GRCm39) |
E269K |
probably damaging |
Het |
Eps8 |
A |
G |
6: 137,460,576 (GRCm39) |
V729A |
possibly damaging |
Het |
Farsa |
A |
G |
8: 85,595,545 (GRCm39) |
H480R |
probably damaging |
Het |
Gm10110 |
C |
T |
14: 90,135,677 (GRCm39) |
V76M |
noncoding transcript |
Het |
Hpn |
T |
C |
7: 30,802,208 (GRCm39) |
T228A |
possibly damaging |
Het |
Lyst |
T |
A |
13: 13,935,323 (GRCm39) |
H3597Q |
possibly damaging |
Het |
Map3k4 |
A |
T |
17: 12,458,968 (GRCm39) |
|
probably null |
Het |
Msto1 |
A |
T |
3: 88,820,228 (GRCm39) |
L89Q |
probably damaging |
Het |
Mycbp2 |
T |
C |
14: 103,436,110 (GRCm39) |
E2185G |
probably damaging |
Het |
Myh2 |
A |
G |
11: 67,083,824 (GRCm39) |
E1534G |
probably damaging |
Het |
Nfkbia |
T |
C |
12: 55,537,608 (GRCm39) |
Y195C |
probably damaging |
Het |
Npr2 |
T |
A |
4: 43,641,603 (GRCm39) |
M469K |
probably benign |
Het |
Nwd1 |
TCATCC |
TCATCCATCC |
8: 73,438,314 (GRCm39) |
|
probably null |
Het |
Or8i2 |
T |
C |
2: 86,852,226 (GRCm39) |
I221V |
probably benign |
Het |
Potefam3e |
C |
A |
8: 19,799,476 (GRCm39) |
T308N |
probably benign |
Het |
Prdm2 |
G |
A |
4: 142,859,037 (GRCm39) |
Q1418* |
probably null |
Het |
Ptk2 |
T |
C |
15: 73,215,140 (GRCm39) |
T13A |
probably benign |
Het |
Ptprk |
T |
A |
10: 28,465,037 (GRCm39) |
N1292K |
possibly damaging |
Het |
Ptprq |
A |
C |
10: 107,418,402 (GRCm39) |
V1658G |
probably damaging |
Het |
Ptprq |
A |
T |
10: 107,541,351 (GRCm39) |
F392I |
probably benign |
Het |
Rbm46 |
C |
T |
3: 82,772,775 (GRCm39) |
R119Q |
probably benign |
Het |
Rsf1 |
T |
C |
7: 97,325,461 (GRCm39) |
|
probably benign |
Het |
Samd4b |
C |
T |
7: 28,106,031 (GRCm39) |
V396I |
probably benign |
Het |
Spta1 |
T |
A |
1: 174,029,952 (GRCm39) |
L906Q |
probably damaging |
Het |
Sytl1 |
T |
C |
4: 132,988,257 (GRCm39) |
D33G |
probably damaging |
Het |
Trmt10c |
T |
C |
16: 55,854,939 (GRCm39) |
N232S |
probably benign |
Het |
Trpc4 |
G |
A |
3: 54,209,669 (GRCm39) |
C678Y |
probably benign |
Het |
Tulp3 |
T |
C |
6: 128,304,640 (GRCm39) |
N205D |
probably benign |
Het |
Ufl1 |
T |
C |
4: 25,278,656 (GRCm39) |
I100V |
probably benign |
Het |
Vegfa |
A |
T |
17: 46,342,236 (GRCm39) |
L194Q |
possibly damaging |
Het |
Vps13c |
T |
C |
9: 67,834,678 (GRCm39) |
F1669S |
probably damaging |
Het |
Vps13c |
T |
A |
9: 67,863,063 (GRCm39) |
H3026Q |
probably benign |
Het |
Zfp184 |
T |
G |
13: 22,144,053 (GRCm39) |
I586M |
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 |
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'- AGTTCCTCGAGACATTTCTGCC -3'
(R):5'- ACCTACCAGCTTCAGGAGAC -3'
Sequencing Primer
(F):5'- GAGACATTTCTGCCATTCTTGATC -3'
(R):5'- TGGGGAATCCTACTACACAAATG -3'
|
Posted On |
2020-07-13 |