Incidental Mutation 'IGL02160:Unc45b'
| ID |
282458 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02160
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
82802112-82834284 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 82831007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018989]
[ENSMUST00000108160]
[ENSMUST00000164945]
|
| AlphaFold |
Q8CGY6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018989
|
| SMART Domains |
Protein: ENSMUSP00000018989
Gene: ENSMUSG00000018845
| 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
|
| SMART Domains |
Protein: ENSMUSP00000103795
Gene: ENSMUSG00000018845
| 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 |
noncoding transcript
Transcript: ENSMUST00000127074
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142336
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164945
|
| SMART Domains |
Protein: ENSMUSP00000129405
Gene: ENSMUSG00000018845
| 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 |
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
A |
G |
9: 53,503,287 (GRCm39) |
V184A |
probably benign |
Het |
| Adam19 |
G |
A |
11: 46,030,522 (GRCm39) |
C750Y |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cabp2 |
T |
A |
19: 4,134,868 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
T |
C |
14: 55,731,015 (GRCm39) |
M94T |
possibly damaging |
Het |
| Ccdc107 |
A |
G |
4: 43,495,736 (GRCm39) |
D213G |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,433,544 (GRCm39) |
|
probably benign |
Het |
| Cfap251 |
A |
T |
5: 123,394,081 (GRCm39) |
E323D |
unknown |
Het |
| Cfhr2 |
T |
A |
1: 139,738,664 (GRCm39) |
D299V |
probably benign |
Het |
| Clcn7 |
T |
C |
17: 25,368,004 (GRCm39) |
|
probably benign |
Het |
| Clspn |
G |
A |
4: 126,475,303 (GRCm39) |
E1019K |
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 64,086,477 (GRCm39) |
T350A |
probably benign |
Het |
| Dmbt1 |
G |
A |
7: 130,684,418 (GRCm39) |
G638E |
probably damaging |
Het |
| Ext2 |
A |
T |
2: 93,643,929 (GRCm39) |
D117E |
probably benign |
Het |
| Fem1al |
A |
T |
11: 29,773,593 (GRCm39) |
Y621* |
probably null |
Het |
| Ffar4 |
T |
A |
19: 38,085,903 (GRCm39) |
V110D |
possibly damaging |
Het |
| Foxred2 |
G |
T |
15: 77,839,850 (GRCm39) |
Q147K |
probably benign |
Het |
| Heatr9 |
T |
C |
11: 83,409,651 (GRCm39) |
D107G |
probably benign |
Het |
| Hmgxb3 |
G |
A |
18: 61,304,308 (GRCm39) |
A94V |
probably damaging |
Het |
| Htr5b |
A |
T |
1: 121,455,774 (GRCm39) |
S49T |
possibly damaging |
Het |
| Il1rl1 |
A |
T |
1: 40,500,997 (GRCm39) |
M458L |
probably benign |
Het |
| Il23r |
A |
T |
6: 67,400,562 (GRCm39) |
N589K |
probably benign |
Het |
| Kbtbd11 |
G |
A |
8: 15,078,801 (GRCm39) |
V467M |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,054,110 (GRCm39) |
Y537N |
probably damaging |
Het |
| Kif27 |
T |
A |
13: 58,473,812 (GRCm39) |
E728D |
probably damaging |
Het |
| Lum |
T |
C |
10: 97,404,443 (GRCm39) |
S113P |
probably damaging |
Het |
| Mkln1 |
A |
G |
6: 31,469,726 (GRCm39) |
|
probably benign |
Het |
| Mmp17 |
A |
G |
5: 129,672,633 (GRCm39) |
D195G |
possibly damaging |
Het |
| Naa38 |
T |
A |
11: 69,287,194 (GRCm39) |
|
probably benign |
Het |
| Naalad2 |
G |
A |
9: 18,291,233 (GRCm39) |
A191V |
probably damaging |
Het |
| Naip6 |
A |
T |
13: 100,435,933 (GRCm39) |
H863Q |
probably benign |
Het |
| Ncoa6 |
A |
G |
2: 155,263,003 (GRCm39) |
V477A |
possibly damaging |
Het |
| Nipal3 |
G |
T |
4: 135,201,728 (GRCm39) |
Y153* |
probably null |
Het |
| Or10s1 |
A |
T |
9: 39,986,482 (GRCm39) |
N297I |
probably damaging |
Het |
| Or13d1 |
A |
G |
4: 52,971,194 (GRCm39) |
D191G |
probably damaging |
Het |
| Or4c12 |
G |
T |
2: 89,774,149 (GRCm39) |
H103Q |
probably damaging |
Het |
| Or4g16 |
G |
A |
2: 111,137,143 (GRCm39) |
V198I |
probably benign |
Het |
| Or9s23 |
T |
A |
1: 92,501,079 (GRCm39) |
L62Q |
probably damaging |
Het |
| Pik3c2a |
G |
A |
7: 115,987,299 (GRCm39) |
P541S |
probably damaging |
Het |
| Ppargc1b |
A |
T |
18: 61,443,506 (GRCm39) |
D552E |
probably damaging |
Het |
| Ppfia3 |
C |
A |
7: 45,009,475 (GRCm39) |
|
probably benign |
Het |
| Prcp |
G |
A |
7: 92,566,969 (GRCm39) |
S227N |
probably benign |
Het |
| Ptprq |
T |
A |
10: 107,489,426 (GRCm39) |
T900S |
probably benign |
Het |
| Ralgapa2 |
G |
A |
2: 146,190,360 (GRCm39) |
|
probably benign |
Het |
| Rcsd1 |
A |
G |
1: 165,485,148 (GRCm39) |
S102P |
probably damaging |
Het |
| Rfwd3 |
T |
A |
8: 111,999,707 (GRCm39) |
N757I |
possibly damaging |
Het |
| Rnf217 |
A |
T |
10: 31,381,767 (GRCm39) |
|
probably null |
Het |
| Scn2a |
A |
G |
2: 65,560,460 (GRCm39) |
D1230G |
probably damaging |
Het |
| Sdc3 |
T |
C |
4: 130,545,886 (GRCm39) |
|
probably benign |
Het |
| Slc27a4 |
G |
T |
2: 29,695,974 (GRCm39) |
D170Y |
probably benign |
Het |
| Tcof1 |
A |
G |
18: 60,981,815 (GRCm39) |
|
probably benign |
Het |
| Ticam1 |
T |
A |
17: 56,577,560 (GRCm39) |
I512F |
possibly damaging |
Het |
| Ticrr |
T |
C |
7: 79,343,767 (GRCm39) |
C1211R |
probably benign |
Het |
| Tlr2 |
A |
T |
3: 83,744,678 (GRCm39) |
N468K |
possibly damaging |
Het |
| Tmod4 |
T |
C |
3: 95,036,424 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,933,719 (GRCm39) |
S2380P |
probably benign |
Het |
| Top6bl |
T |
C |
19: 4,713,612 (GRCm39) |
D276G |
probably damaging |
Het |
| Tox |
A |
G |
4: 6,711,537 (GRCm39) |
V309A |
probably damaging |
Het |
| Tpgs2 |
A |
G |
18: 25,273,637 (GRCm39) |
F175L |
possibly damaging |
Het |
| Trim43b |
A |
G |
9: 88,973,683 (GRCm39) |
S17P |
probably benign |
Het |
| Ttc21a |
G |
T |
9: 119,785,989 (GRCm39) |
L662F |
probably damaging |
Het |
| Ubqln1 |
A |
T |
13: 58,339,951 (GRCm39) |
N261K |
probably damaging |
Het |
| Umodl1 |
T |
C |
17: 31,205,091 (GRCm39) |
V562A |
probably damaging |
Het |
| Vars1 |
T |
A |
17: 35,220,478 (GRCm39) |
I20N |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,832,612 (GRCm39) |
N3092D |
probably damaging |
Het |
| Zc3h6 |
G |
T |
2: 128,839,605 (GRCm39) |
E139D |
probably benign |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation