Incidental Mutation 'R8916:Unc45b'
| ID |
678948 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc45b
|
| Ensembl Gene |
ENSMUSG00000018845 |
| Gene Name |
unc-45 myosin chaperone B |
| Synonyms |
UNC45, Cmya4, D230041A13Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8916 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
82802112-82834284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82804038 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 72
(I72V)
|
| 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: I72V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000018989
Gene: ENSMUSG00000018845
AA Change: I72V
| 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: I72V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000103795
Gene: ENSMUSG00000018845
AA Change: I72V
| 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: I72V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000129405
Gene: ENSMUSG00000018845
AA Change: I72V
| 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 |
0.0836 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
A |
G |
13: 70,941,307 (GRCm39) |
L360S |
probably damaging |
Het |
| AW554918 |
T |
C |
18: 25,423,049 (GRCm39) |
Y167H |
probably damaging |
Het |
| Cdh18 |
A |
T |
15: 23,410,813 (GRCm39) |
I433F |
probably damaging |
Het |
| Cenpj |
A |
T |
14: 56,790,352 (GRCm39) |
F566I |
probably damaging |
Het |
| Cntn4 |
T |
A |
6: 106,652,915 (GRCm39) |
Y795N |
probably damaging |
Het |
| Col4a4 |
C |
T |
1: 82,501,667 (GRCm39) |
G362E |
unknown |
Het |
| Crebrf |
A |
G |
17: 26,958,583 (GRCm39) |
T18A |
probably damaging |
Het |
| D130043K22Rik |
G |
A |
13: 25,056,254 (GRCm39) |
V529I |
probably benign |
Het |
| Dars2 |
T |
C |
1: 160,881,552 (GRCm39) |
T326A |
probably benign |
Het |
| Eif4e |
T |
C |
3: 138,256,043 (GRCm39) |
|
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,733,722 (GRCm39) |
M413V |
possibly damaging |
Het |
| Fbn1 |
T |
C |
2: 125,245,149 (GRCm39) |
D246G |
possibly damaging |
Het |
| Foxred2 |
A |
G |
15: 77,837,514 (GRCm39) |
S241P |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,900,774 (GRCm39) |
F2998L |
probably damaging |
Het |
| Garin4 |
A |
G |
1: 190,895,857 (GRCm39) |
I262T |
probably benign |
Het |
| Grb10 |
T |
C |
11: 11,901,599 (GRCm39) |
T192A |
probably benign |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Heatr5a |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
12: 51,934,702 (GRCm39) |
|
probably benign |
Het |
| Hinfp |
A |
T |
9: 44,209,673 (GRCm39) |
F234I |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,649,530 (GRCm39) |
I652N |
probably damaging |
Het |
| Kif24 |
T |
C |
4: 41,394,963 (GRCm39) |
K771E |
probably benign |
Het |
| Lhcgr |
A |
G |
17: 89,061,170 (GRCm39) |
|
probably null |
Het |
| Lnpk |
A |
T |
2: 74,358,486 (GRCm39) |
S358T |
probably benign |
Het |
| Lpcat2 |
A |
T |
8: 93,596,316 (GRCm39) |
M118L |
probably benign |
Het |
| Lypd1 |
T |
A |
1: 125,801,120 (GRCm39) |
T127S |
unknown |
Het |
| Mettl23 |
C |
T |
11: 116,740,111 (GRCm39) |
T194I |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,788,819 (GRCm39) |
V2227A |
possibly damaging |
Het |
| Mus81 |
A |
T |
19: 5,534,214 (GRCm39) |
V368E |
probably damaging |
Het |
| Myo3a |
T |
A |
2: 22,457,704 (GRCm39) |
F1046I |
probably damaging |
Het |
| Nfia |
G |
A |
4: 97,888,667 (GRCm39) |
V222I |
probably benign |
Het |
| Niban2 |
T |
A |
2: 32,811,106 (GRCm39) |
M372K |
possibly damaging |
Het |
| Nop9 |
A |
G |
14: 55,991,101 (GRCm39) |
E586G |
probably benign |
Het |
| Nr2e1 |
G |
A |
10: 42,443,864 (GRCm39) |
A286V |
possibly damaging |
Het |
| Nup153 |
G |
A |
13: 46,863,462 (GRCm39) |
Q300* |
probably null |
Het |
| Plaat1 |
A |
G |
16: 29,039,259 (GRCm39) |
D113G |
possibly damaging |
Het |
| Pnp2 |
T |
C |
14: 51,201,234 (GRCm39) |
L202P |
probably damaging |
Het |
| Prss3b |
T |
A |
6: 41,010,103 (GRCm39) |
H77L |
probably damaging |
Het |
| Psen2 |
A |
G |
1: 180,063,495 (GRCm39) |
F183L |
probably benign |
Het |
| Rint1 |
G |
T |
5: 23,992,826 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GGC |
GGCGGCGGCCGC |
7: 97,229,140 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
C |
A |
2: 112,608,635 (GRCm39) |
R2335L |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,108,127 (GRCm39) |
D1544G |
probably damaging |
Het |
| Sec31b |
A |
C |
19: 44,520,783 (GRCm39) |
S175A |
|
Het |
| Sgcg |
A |
G |
14: 61,474,341 (GRCm39) |
S101P |
probably damaging |
Het |
| Shb |
A |
T |
4: 45,489,154 (GRCm39) |
S241T |
probably damaging |
Het |
| Slc47a2 |
A |
T |
11: 61,193,118 (GRCm39) |
L545Q |
probably damaging |
Het |
| Spata31g1 |
C |
A |
4: 42,973,034 (GRCm39) |
P789H |
probably damaging |
Het |
| Spef2 |
C |
A |
15: 9,725,266 (GRCm39) |
E164* |
probably null |
Het |
| Sphkap |
A |
T |
1: 83,255,108 (GRCm39) |
N880K |
possibly damaging |
Het |
| Taf2 |
A |
G |
15: 54,899,931 (GRCm39) |
V894A |
probably benign |
Het |
| Tgfa |
T |
G |
6: 86,248,436 (GRCm39) |
L146R |
probably damaging |
Het |
| Tlr3 |
C |
T |
8: 45,856,076 (GRCm39) |
V35I |
probably benign |
Het |
| Tlr4 |
G |
A |
4: 66,847,268 (GRCm39) |
V132I |
probably benign |
Het |
| Tsen34 |
C |
T |
7: 3,697,340 (GRCm39) |
|
probably benign |
Het |
| Ttc13 |
T |
G |
8: 125,409,976 (GRCm39) |
K412T |
probably damaging |
Het |
| Vmn1r195 |
A |
G |
13: 22,463,139 (GRCm39) |
Y203C |
probably damaging |
Het |
| Vmn2r65 |
T |
A |
7: 84,595,665 (GRCm39) |
T340S |
probably benign |
Het |
| Vmn2r88 |
T |
A |
14: 51,648,593 (GRCm39) |
C46S |
|
Het |
| Ythdf2 |
A |
T |
4: 131,931,830 (GRCm39) |
D443E |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,886,796 (GRCm39) |
R754G |
probably damaging |
Het |
| Zfp236 |
T |
A |
18: 82,664,351 (GRCm39) |
E478V |
probably damaging |
Het |
| Zfp287 |
A |
T |
11: 62,605,136 (GRCm39) |
Y590* |
probably null |
Het |
| Zfp9 |
A |
T |
6: 118,442,223 (GRCm39) |
C146* |
probably null |
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 |
|
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'- TTTGCCAACCTTGAGACTCTATG -3'
(R):5'- GGATGGAAGCTGCCAACATTC -3'
Sequencing Primer
(F):5'- AACCTTGAGACTCTATGGGTCTTTC -3'
(R):5'- TGCCAACATTCTCTGGAAGG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation