Incidental Mutation 'R7368:Unc45b'
ID |
571944 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Unc45b
|
Ensembl Gene |
ENSMUSG00000018845 |
Gene Name |
unc-45 myosin chaperone B |
Synonyms |
UNC45, Cmya4, D230041A13Rik |
MMRRC Submission |
045452-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7368 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
82802112-82834284 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 82833321 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 845
(T845I)
|
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: T845I
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000018989 Gene: ENSMUSG00000018845 AA Change: T845I
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: T847I
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000103795 Gene: ENSMUSG00000018845 AA Change: T847I
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: T847I
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000129405 Gene: ENSMUSG00000018845 AA Change: T847I
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: 99.1%
|
Validation Efficiency |
98% (61/62) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd4 |
A |
T |
12: 84,659,639 (GRCm39) |
F153I |
possibly damaging |
Het |
Adcy1 |
G |
A |
11: 7,094,765 (GRCm39) |
V564I |
probably damaging |
Het |
Apol9b |
T |
C |
15: 77,620,134 (GRCm39) |
I310T |
possibly damaging |
Het |
Arhgef28 |
C |
A |
13: 98,133,370 (GRCm39) |
V366F |
probably benign |
Het |
B020004C17Rik |
C |
T |
14: 57,254,773 (GRCm39) |
T199I |
possibly damaging |
Het |
Carmil2 |
C |
T |
8: 106,417,467 (GRCm39) |
T575I |
possibly damaging |
Het |
Catsper1 |
A |
T |
19: 5,386,691 (GRCm39) |
Q308L |
unknown |
Het |
Cpa2 |
T |
A |
6: 30,551,989 (GRCm39) |
S239T |
probably damaging |
Het |
Cyrib |
A |
T |
15: 63,810,507 (GRCm39) |
|
probably null |
Het |
Ddit3 |
G |
A |
10: 127,131,776 (GRCm39) |
G108D |
probably damaging |
Het |
Dnah3 |
T |
C |
7: 119,628,239 (GRCm39) |
I1473V |
probably benign |
Het |
Dscam |
A |
G |
16: 96,445,131 (GRCm39) |
V1520A |
probably benign |
Het |
Edc4 |
TAGTAGCAGCAGCAGTAGCAGCAGCAG |
TAGTAGCAGCAGCAG |
8: 106,615,037 (GRCm39) |
|
probably benign |
Het |
Ednrb |
T |
A |
14: 104,057,453 (GRCm39) |
I370F |
probably benign |
Het |
Ehd3 |
A |
G |
17: 74,134,457 (GRCm39) |
E272G |
possibly damaging |
Het |
Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
Fkbp11 |
T |
C |
15: 98,622,307 (GRCm39) |
K189E |
unknown |
Het |
Frem1 |
T |
A |
4: 82,884,381 (GRCm39) |
E1190D |
probably benign |
Het |
Gabrg2 |
A |
C |
11: 41,867,390 (GRCm39) |
Y76* |
probably null |
Het |
Gm11437 |
T |
A |
11: 84,058,298 (GRCm39) |
|
probably benign |
Het |
Gm8947 |
C |
A |
1: 151,068,847 (GRCm39) |
Q227K |
probably benign |
Het |
Gm9195 |
A |
G |
14: 72,717,496 (GRCm39) |
F279S |
probably damaging |
Het |
Gpbp1l1 |
T |
C |
4: 116,430,655 (GRCm39) |
I42T |
probably benign |
Het |
Hdac5 |
A |
T |
11: 102,088,207 (GRCm39) |
V939E |
probably null |
Het |
Hivep3 |
CGG |
CG |
4: 119,955,108 (GRCm39) |
1141 |
probably null |
Het |
Kitl |
A |
T |
10: 99,851,943 (GRCm39) |
I21F |
probably benign |
Het |
Krt1 |
T |
C |
15: 101,755,307 (GRCm39) |
D484G |
probably damaging |
Het |
Larp1 |
C |
A |
11: 57,938,904 (GRCm39) |
P527T |
probably damaging |
Het |
Lrp5 |
A |
G |
19: 3,670,085 (GRCm39) |
V673A |
possibly damaging |
Het |
Lrp6 |
G |
T |
6: 134,427,781 (GRCm39) |
P1604T |
probably damaging |
Het |
Mmp27 |
G |
A |
9: 7,577,318 (GRCm39) |
V228M |
probably damaging |
Het |
Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
Myo15a |
G |
T |
11: 60,381,741 (GRCm39) |
|
probably null |
Het |
Myt1 |
A |
G |
2: 181,424,384 (GRCm39) |
K26E |
possibly damaging |
Het |
Nek1 |
T |
A |
8: 61,542,741 (GRCm39) |
I777N |
probably benign |
Het |
Nlrc5 |
C |
T |
8: 95,203,021 (GRCm39) |
R374* |
probably null |
Het |
Nol8 |
T |
C |
13: 49,814,695 (GRCm39) |
S268P |
probably benign |
Het |
Nynrin |
T |
A |
14: 56,107,968 (GRCm39) |
L1025Q |
probably damaging |
Het |
Or8h9 |
A |
G |
2: 86,789,602 (GRCm39) |
S67P |
probably damaging |
Het |
Osbpl3 |
A |
T |
6: 50,325,078 (GRCm39) |
L140H |
probably damaging |
Het |
Pcnt |
T |
C |
10: 76,235,835 (GRCm39) |
N1382S |
probably benign |
Het |
Pef1 |
T |
A |
4: 130,021,178 (GRCm39) |
L244* |
probably null |
Het |
Phf11a |
T |
C |
14: 59,518,174 (GRCm39) |
E191G |
probably benign |
Het |
Polr3a |
A |
T |
14: 24,517,144 (GRCm39) |
D702E |
probably damaging |
Het |
Ptch1 |
C |
T |
13: 63,659,798 (GRCm39) |
G1285D |
probably benign |
Het |
Ptpn3 |
T |
C |
4: 57,221,993 (GRCm39) |
D566G |
probably damaging |
Het |
Pwp2 |
C |
T |
10: 78,018,314 (GRCm39) |
G126R |
probably damaging |
Het |
Scgb1b12 |
T |
C |
7: 32,033,992 (GRCm39) |
I84T |
probably damaging |
Het |
Sh2b1 |
A |
T |
7: 126,067,685 (GRCm39) |
D618E |
possibly damaging |
Het |
Slc35f5 |
T |
A |
1: 125,512,256 (GRCm39) |
V352E |
probably damaging |
Het |
Sppl2c |
A |
G |
11: 104,078,430 (GRCm39) |
E410G |
probably damaging |
Het |
St6galnac2 |
T |
C |
11: 116,570,805 (GRCm39) |
Y261C |
probably damaging |
Het |
Stra6 |
G |
A |
9: 58,058,543 (GRCm39) |
R468Q |
probably benign |
Het |
Taf3 |
T |
C |
2: 9,921,188 (GRCm39) |
H924R |
unknown |
Het |
Tbx18 |
C |
A |
9: 87,612,750 (GRCm39) |
V50L |
probably benign |
Het |
Tgoln1 |
G |
C |
6: 72,593,261 (GRCm39) |
T73R |
probably benign |
Het |
Usp15 |
T |
C |
10: 123,032,798 (GRCm39) |
D8G |
possibly damaging |
Het |
Vmn2r91 |
A |
G |
17: 18,356,540 (GRCm39) |
I736V |
possibly damaging |
Het |
Vps13c |
C |
A |
9: 67,821,355 (GRCm39) |
D1288E |
probably benign |
Het |
Zfp458 |
T |
A |
13: 67,405,300 (GRCm39) |
M380L |
probably benign |
Het |
Zfp638 |
A |
G |
6: 83,906,437 (GRCm39) |
N201D |
possibly 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 |
|
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'- ATTCGTACATTCATGCACAGGC -3'
(R):5'- ACTTGATAAGACACTCCCGGG -3'
Sequencing Primer
(F):5'- CACAGGCAGGATGAATGAATGAATC -3'
(R):5'- ATAAGACACTCCCGGGCTGTC -3'
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Posted On |
2019-09-13 |