Incidental Mutation 'R7531:Unc45b'
| ID |
583330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc45b
|
| Ensembl Gene |
ENSMUSG00000018845 |
| Gene Name |
unc-45 myosin chaperone B |
| Synonyms |
UNC45, Cmya4, D230041A13Rik |
| MMRRC Submission |
045603-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7531 (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 82819838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 543
(D543G)
|
| 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: D543G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000018989
Gene: ENSMUSG00000018845
AA Change: D543G
| 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: D543G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103795
Gene: ENSMUSG00000018845
AA Change: D543G
| 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: D543G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129405
Gene: ENSMUSG00000018845
AA Change: D543G
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (54/54) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,286,332 (GRCm39) |
T2501S |
probably damaging |
Het |
| Abcg3 |
A |
G |
5: 105,125,507 (GRCm39) |
Y59H |
probably benign |
Het |
| Acsf2 |
G |
T |
11: 94,464,057 (GRCm39) |
|
probably null |
Het |
| Adam25 |
T |
A |
8: 41,206,914 (GRCm39) |
I60K |
probably damaging |
Het |
| Agrn |
A |
T |
4: 156,254,261 (GRCm39) |
V1729E |
probably damaging |
Het |
| Aldh9a1 |
G |
A |
1: 167,177,895 (GRCm39) |
V31I |
probably benign |
Het |
| Aqp5 |
T |
C |
15: 99,489,180 (GRCm39) |
F10L |
possibly damaging |
Het |
| Arfgap2 |
T |
A |
2: 91,104,089 (GRCm39) |
|
probably null |
Het |
| Asb7 |
T |
C |
7: 66,328,884 (GRCm39) |
H52R |
probably damaging |
Het |
| Aspa |
G |
A |
11: 73,204,351 (GRCm39) |
Q206* |
probably null |
Het |
| Bpgm |
A |
G |
6: 34,481,223 (GRCm39) |
I207V |
possibly damaging |
Het |
| Brinp2 |
A |
G |
1: 158,094,142 (GRCm39) |
S187P |
possibly damaging |
Het |
| Clec4e |
A |
G |
6: 123,262,533 (GRCm39) |
F128S |
probably benign |
Het |
| Crisp3 |
A |
G |
17: 40,545,629 (GRCm39) |
F82L |
probably benign |
Het |
| Cry2 |
A |
G |
2: 92,243,350 (GRCm39) |
L497P |
probably damaging |
Het |
| Dcxr |
A |
G |
11: 120,617,832 (GRCm39) |
V48A |
probably benign |
Het |
| Ddx11 |
A |
T |
17: 66,445,214 (GRCm39) |
T379S |
probably benign |
Het |
| Depdc1a |
A |
C |
3: 159,228,276 (GRCm39) |
T343P |
probably damaging |
Het |
| Dhx36 |
T |
C |
3: 62,392,389 (GRCm39) |
I546V |
probably damaging |
Het |
| Fam114a2 |
A |
G |
11: 57,404,542 (GRCm39) |
V74A |
probably benign |
Het |
| Fcgbpl1 |
T |
C |
7: 27,839,656 (GRCm39) |
F490L |
probably benign |
Het |
| Flg2 |
A |
T |
3: 93,108,177 (GRCm39) |
R68S |
probably damaging |
Het |
| Glb1l3 |
T |
C |
9: 26,764,950 (GRCm39) |
I154V |
possibly damaging |
Het |
| Gm45844 |
T |
C |
7: 7,243,185 (GRCm39) |
T22A |
probably benign |
Het |
| Gramd2a |
A |
T |
9: 59,617,193 (GRCm39) |
I83F |
probably damaging |
Het |
| Hcn4 |
A |
G |
9: 58,767,420 (GRCm39) |
T994A |
unknown |
Het |
| Hectd1 |
C |
T |
12: 51,853,150 (GRCm39) |
V124I |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,562,531 (GRCm39) |
D2342E |
probably benign |
Het |
| Hyal6 |
A |
T |
6: 24,740,786 (GRCm39) |
H313L |
possibly damaging |
Het |
| Ifnab |
T |
A |
4: 88,609,523 (GRCm39) |
|
probably benign |
Het |
| Keap1 |
A |
G |
9: 21,148,623 (GRCm39) |
I128T |
probably benign |
Het |
| Kit |
T |
C |
5: 75,767,700 (GRCm39) |
S28P |
probably damaging |
Het |
| Krtap5-3 |
T |
A |
7: 141,755,942 (GRCm39) |
C260S |
unknown |
Het |
| Lepr |
T |
A |
4: 101,609,372 (GRCm39) |
W320R |
probably damaging |
Het |
| Lmod3 |
A |
T |
6: 97,225,403 (GRCm39) |
N139K |
probably benign |
Het |
| Marchf1 |
C |
G |
8: 66,838,989 (GRCm39) |
S10R |
probably benign |
Het |
| Naa35 |
A |
T |
13: 59,765,755 (GRCm39) |
K380* |
probably null |
Het |
| Npy1r |
C |
A |
8: 67,157,546 (GRCm39) |
F285L |
probably damaging |
Het |
| Nr1h3 |
C |
T |
2: 91,014,739 (GRCm39) |
R427H |
probably damaging |
Het |
| Or5p79 |
T |
A |
7: 108,221,269 (GRCm39) |
N83K |
probably benign |
Het |
| Pate2 |
A |
G |
9: 35,582,008 (GRCm39) |
|
probably null |
Het |
| Pcmt1 |
A |
G |
10: 7,556,369 (GRCm39) |
|
probably null |
Het |
| Prg4 |
T |
G |
1: 150,330,786 (GRCm39) |
E629A |
unknown |
Het |
| Rin2 |
T |
G |
2: 145,700,419 (GRCm39) |
S199A |
probably benign |
Het |
| Ror1 |
T |
A |
4: 100,298,388 (GRCm39) |
L587Q |
probably damaging |
Het |
| Rsl1 |
T |
A |
13: 67,324,566 (GRCm39) |
C31S |
possibly damaging |
Het |
| Scn4a |
A |
G |
11: 106,239,523 (GRCm39) |
|
probably null |
Het |
| Sema3a |
T |
C |
5: 13,615,805 (GRCm39) |
Y410H |
probably damaging |
Het |
| Smpd5 |
T |
C |
15: 76,180,539 (GRCm39) |
V447A |
probably benign |
Het |
| Tax1bp1 |
A |
T |
6: 52,723,682 (GRCm39) |
D524V |
probably benign |
Het |
| Tesc |
A |
T |
5: 118,197,523 (GRCm39) |
Y179F |
probably damaging |
Het |
| Tm9sf2 |
T |
C |
14: 122,379,824 (GRCm39) |
S292P |
possibly damaging |
Het |
| Usp4 |
T |
A |
9: 108,249,879 (GRCm39) |
V469E |
probably damaging |
Het |
| Vmn1r10 |
T |
A |
6: 57,090,924 (GRCm39) |
I172N |
possibly damaging |
Het |
| Zfyve16 |
A |
G |
13: 92,659,473 (GRCm39) |
L146S |
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 |
|
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'- CTTCAGTGATGTCAGGCTGG -3'
(R):5'- GGGCCATCCAGTGAAAGAAC -3'
Sequencing Primer
(F):5'- TGTCAGGCTGGAAAAGACCCC -3'
(R):5'- GTGAAAGAACCAATCCGGCTTC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation