Incidental Mutation 'R2067:Unc45b'
ID |
226783 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Unc45b
|
Ensembl Gene |
ENSMUSG00000018845 |
Gene Name |
unc-45 myosin chaperone B |
Synonyms |
UNC45, Cmya4, D230041A13Rik |
MMRRC Submission |
040072-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2067 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
82802112-82834284 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 82802515 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 4
(A4T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129405
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018989]
[ENSMUST00000103213]
[ENSMUST00000108160]
[ENSMUST00000164945]
|
AlphaFold |
Q8CGY6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000018989
AA Change: A4T
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000018989 Gene: ENSMUSG00000018845 AA Change: A4T
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: ENSMUST00000103213
|
SMART Domains |
Protein: ENSMUSP00000099502 Gene: ENSMUSG00000020692
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
Pfam:NLE
|
17 |
77 |
3.6e-15 |
PFAM |
WD40
|
103 |
142 |
5.22e-12 |
SMART |
WD40
|
145 |
184 |
1.48e-11 |
SMART |
WD40
|
188 |
232 |
1.66e-5 |
SMART |
WD40
|
235 |
273 |
3.11e-10 |
SMART |
WD40
|
276 |
357 |
1.14e-3 |
SMART |
WD40
|
361 |
400 |
8.81e-10 |
SMART |
WD40
|
403 |
442 |
1.69e-11 |
SMART |
WD40
|
445 |
484 |
9.44e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108160
AA Change: A4T
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000103795 Gene: ENSMUSG00000018845 AA Change: A4T
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: ENSMUST00000126202
|
SMART Domains |
Protein: ENSMUSP00000130605 Gene: ENSMUSG00000020692
Domain | Start | End | E-Value | Type |
SCOP:d1flga_
|
12 |
46 |
2e-5 |
SMART |
Blast:WD40
|
22 |
48 |
2e-10 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147915
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164945
AA Change: A4T
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000129405 Gene: ENSMUSG00000018845 AA Change: A4T
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
97% (76/78) |
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 |
9530002B09Rik |
T |
A |
4: 122,583,115 (GRCm39) |
|
probably benign |
Het |
Abca2 |
A |
T |
2: 25,327,517 (GRCm39) |
I669F |
possibly damaging |
Het |
Acin1 |
T |
A |
14: 54,902,711 (GRCm39) |
Q360H |
probably damaging |
Het |
Aldh3b1 |
T |
A |
19: 3,971,755 (GRCm39) |
D72V |
probably benign |
Het |
Alox12e |
G |
A |
11: 70,206,828 (GRCm39) |
R620W |
probably damaging |
Het |
Alpl |
T |
C |
4: 137,476,856 (GRCm39) |
|
probably benign |
Het |
Amy2a1 |
T |
C |
3: 113,324,217 (GRCm39) |
I108V |
probably benign |
Het |
Ascc2 |
A |
T |
11: 4,631,496 (GRCm39) |
M646L |
probably benign |
Het |
Bod1l |
G |
A |
5: 41,974,429 (GRCm39) |
T2295M |
probably benign |
Het |
Ccdc9 |
A |
T |
7: 16,012,475 (GRCm39) |
|
probably null |
Het |
Clptm1l |
C |
T |
13: 73,755,842 (GRCm39) |
Q153* |
probably null |
Het |
Csmd1 |
A |
G |
8: 15,950,782 (GRCm39) |
S3476P |
probably benign |
Het |
Ddias |
A |
T |
7: 92,508,907 (GRCm39) |
M336K |
possibly damaging |
Het |
Ehd1 |
T |
C |
19: 6,348,108 (GRCm39) |
L362P |
probably benign |
Het |
Epha1 |
G |
T |
6: 42,342,987 (GRCm39) |
H187Q |
probably benign |
Het |
Espl1 |
T |
C |
15: 102,207,525 (GRCm39) |
S330P |
probably damaging |
Het |
Fbln7 |
G |
T |
2: 128,719,386 (GRCm39) |
R61L |
probably damaging |
Het |
Fbxo41 |
C |
T |
6: 85,455,453 (GRCm39) |
W577* |
probably null |
Het |
Fgb |
C |
A |
3: 82,956,996 (GRCm39) |
D25Y |
probably benign |
Het |
Gc |
T |
A |
5: 89,594,376 (GRCm39) |
K37N |
probably damaging |
Het |
Gfpt1 |
T |
C |
6: 87,034,736 (GRCm39) |
I178T |
probably benign |
Het |
Gm12695 |
T |
C |
4: 96,657,963 (GRCm39) |
T69A |
probably benign |
Het |
Gm3944 |
C |
A |
12: 18,903,895 (GRCm39) |
S8* |
probably null |
Het |
Gm9912 |
T |
C |
3: 148,890,795 (GRCm39) |
T113A |
unknown |
Het |
Gpr156 |
A |
G |
16: 37,799,113 (GRCm39) |
D109G |
probably benign |
Het |
Hoxd1 |
A |
T |
2: 74,593,710 (GRCm39) |
T89S |
probably benign |
Het |
Htt |
C |
T |
5: 34,983,326 (GRCm39) |
T975I |
probably benign |
Het |
Itpr3 |
G |
A |
17: 27,317,050 (GRCm39) |
M768I |
probably benign |
Het |
Krt4 |
C |
A |
15: 101,833,099 (GRCm39) |
A3S |
possibly damaging |
Het |
Mrto4 |
T |
C |
4: 139,076,334 (GRCm39) |
K86E |
probably benign |
Het |
Mup4 |
T |
A |
4: 59,960,622 (GRCm39) |
|
probably benign |
Het |
Myh1 |
G |
A |
11: 67,105,446 (GRCm39) |
D1079N |
possibly damaging |
Het |
Myo1a |
A |
G |
10: 127,541,347 (GRCm39) |
N43D |
probably benign |
Het |
Napa |
A |
T |
7: 15,849,203 (GRCm39) |
|
probably benign |
Het |
Ndufa12 |
A |
G |
10: 94,056,569 (GRCm39) |
D99G |
probably damaging |
Het |
Neb |
A |
G |
2: 52,174,275 (GRCm39) |
I1528T |
probably benign |
Het |
Nek1 |
T |
C |
8: 61,460,196 (GRCm39) |
S41P |
probably damaging |
Het |
Nolc1 |
C |
T |
19: 46,072,046 (GRCm39) |
T612M |
probably damaging |
Het |
Nsun5 |
T |
G |
5: 135,403,926 (GRCm39) |
Y301D |
probably damaging |
Het |
Oas1g |
T |
C |
5: 121,023,946 (GRCm39) |
E121G |
probably damaging |
Het |
Or1e1f |
A |
G |
11: 73,855,740 (GRCm39) |
Y102C |
probably damaging |
Het |
Or2ab1 |
A |
G |
11: 58,488,396 (GRCm39) |
N58S |
probably damaging |
Het |
Or5d41 |
A |
G |
2: 88,054,818 (GRCm39) |
V186A |
possibly damaging |
Het |
Or6ae1 |
T |
A |
7: 139,742,822 (GRCm39) |
I14F |
possibly damaging |
Het |
Or8b46 |
T |
A |
9: 38,450,576 (GRCm39) |
N128K |
probably benign |
Het |
Or8k38 |
G |
T |
2: 86,488,781 (GRCm39) |
T7K |
probably damaging |
Het |
Osmr |
T |
C |
15: 6,844,896 (GRCm39) |
N957D |
probably benign |
Het |
Parn |
G |
A |
16: 13,420,933 (GRCm39) |
S473L |
probably damaging |
Het |
Phc2 |
T |
C |
4: 128,640,929 (GRCm39) |
F672S |
probably damaging |
Het |
Pik3c2b |
T |
C |
1: 133,027,349 (GRCm39) |
S1283P |
probably damaging |
Het |
Pole2 |
G |
A |
12: 69,274,926 (GRCm39) |
R5W |
probably benign |
Het |
Prl7a2 |
T |
A |
13: 27,844,870 (GRCm39) |
Y172F |
probably damaging |
Het |
Ptprz1 |
A |
G |
6: 23,050,388 (GRCm39) |
|
probably benign |
Het |
Rapgef3 |
C |
A |
15: 97,664,842 (GRCm39) |
G7V |
probably damaging |
Het |
Ripor1 |
T |
A |
8: 106,344,340 (GRCm39) |
S491R |
probably benign |
Het |
Rnf141 |
A |
G |
7: 110,420,572 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
C |
T |
2: 112,777,302 (GRCm39) |
R285Q |
probably damaging |
Het |
Sall4 |
T |
C |
2: 168,598,465 (GRCm39) |
N125S |
probably benign |
Het |
Schip1 |
A |
G |
3: 68,525,119 (GRCm39) |
K360R |
probably damaging |
Het |
Senp6 |
T |
A |
9: 79,997,151 (GRCm39) |
V55E |
probably benign |
Het |
Skint1 |
T |
A |
4: 111,882,730 (GRCm39) |
V258D |
probably benign |
Het |
Slc25a16 |
T |
A |
10: 62,768,530 (GRCm39) |
H130Q |
probably benign |
Het |
Styx |
T |
C |
14: 45,611,020 (GRCm39) |
V217A |
probably benign |
Het |
Syne2 |
G |
A |
12: 75,935,116 (GRCm39) |
|
probably null |
Het |
Tagap1 |
A |
G |
17: 7,224,259 (GRCm39) |
S146P |
probably benign |
Het |
Tatdn2 |
A |
G |
6: 113,681,103 (GRCm39) |
K379E |
probably benign |
Het |
Thrap3 |
T |
C |
4: 126,069,189 (GRCm39) |
Y654C |
possibly damaging |
Het |
Tle2 |
T |
C |
10: 81,416,385 (GRCm39) |
L135P |
probably damaging |
Het |
Tmc1 |
A |
G |
19: 20,801,673 (GRCm39) |
F451S |
possibly damaging |
Het |
Trpm7 |
G |
A |
2: 126,639,647 (GRCm39) |
P1650S |
probably damaging |
Het |
Ttll4 |
G |
A |
1: 74,719,541 (GRCm39) |
R16H |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,544,717 (GRCm39) |
N32795S |
probably damaging |
Het |
Tubgcp6 |
T |
C |
15: 88,988,692 (GRCm39) |
E803G |
probably benign |
Het |
Ubr2 |
A |
G |
17: 47,274,071 (GRCm39) |
|
probably null |
Het |
Ugt2b35 |
A |
G |
5: 87,149,412 (GRCm39) |
D221G |
probably damaging |
Het |
Vmn1r70 |
A |
T |
7: 10,368,264 (GRCm39) |
I251F |
possibly damaging |
Het |
Vmn2r120 |
T |
A |
17: 57,831,553 (GRCm39) |
H412L |
possibly damaging |
Het |
Zfp59 |
A |
G |
7: 27,552,935 (GRCm39) |
N129S |
probably benign |
Het |
Zgrf1 |
T |
C |
3: 127,406,999 (GRCm39) |
C1589R |
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 |
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'- ACTCTGACAACCCTTTCAGTGG -3'
(R):5'- TGTCCCAGACCATTTTCAGG -3'
Sequencing Primer
(F):5'- TTTCAGTGGGAGTCAAGCCC -3'
(R):5'- AGACCATTTTCAGGCCGCAG -3'
|
Posted On |
2014-09-17 |