Incidental Mutation 'IGL02959:Unc45a'
| ID |
365288 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Unc45a
|
| Ensembl Gene |
ENSMUSG00000030533 |
| Gene Name |
unc-45 myosin chaperone A |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02959
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
79975040-79990748 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to G
at 79982721 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032748]
[ENSMUST00000107368]
[ENSMUST00000133728]
[ENSMUST00000154428]
|
| AlphaFold |
Q99KD5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032748
|
| SMART Domains |
Protein: ENSMUSP00000032748
Gene: ENSMUSG00000030533
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
21 |
54 |
9.53e-2 |
SMART |
|
TPR
|
58 |
91 |
5.48e-2 |
SMART |
|
TPR
|
92 |
125 |
7.45e-4 |
SMART |
|
Blast:ARM
|
183 |
224 |
6e-9 |
BLAST |
|
Blast:ARM
|
226 |
266 |
1e-7 |
BLAST |
|
Pfam:UNC45-central
|
287 |
505 |
1.2e-43 |
PFAM |
|
Blast:ARM
|
679 |
717 |
4e-13 |
BLAST |
|
Blast:ARM
|
720 |
762 |
4e-12 |
BLAST |
|
Blast:ARM
|
764 |
804 |
8e-16 |
BLAST |
|
low complexity region
|
833 |
845 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107368
|
| SMART Domains |
Protein: ENSMUSP00000102991
Gene: ENSMUSG00000030533
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
21 |
54 |
9.53e-2 |
SMART |
|
TPR
|
58 |
91 |
5.48e-2 |
SMART |
|
TPR
|
92 |
125 |
7.45e-4 |
SMART |
|
Blast:ARM
|
183 |
224 |
6e-9 |
BLAST |
|
Blast:ARM
|
226 |
266 |
1e-7 |
BLAST |
|
Pfam:UNC45-central
|
314 |
505 |
2.4e-38 |
PFAM |
|
Blast:ARM
|
679 |
717 |
4e-13 |
BLAST |
|
Blast:ARM
|
720 |
762 |
4e-12 |
BLAST |
|
Blast:ARM
|
764 |
804 |
8e-16 |
BLAST |
|
low complexity region
|
833 |
845 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133728
|
| SMART Domains |
Protein: ENSMUSP00000123399
Gene: ENSMUSG00000030533
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
6 |
39 |
9.53e-2 |
SMART |
|
TPR
|
43 |
76 |
5.48e-2 |
SMART |
|
TPR
|
77 |
110 |
7.45e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154428
|
| SMART Domains |
Protein: ENSMUSP00000119665
Gene: ENSMUSG00000030533
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
21 |
54 |
9.53e-2 |
SMART |
|
TPR
|
58 |
91 |
5.48e-2 |
SMART |
|
TPR
|
92 |
125 |
7.45e-4 |
SMART |
|
Blast:ARM
|
183 |
224 |
4e-9 |
BLAST |
|
Blast:ARM
|
226 |
266 |
6e-8 |
BLAST |
|
Pfam:UNC45-central
|
287 |
505 |
3.5e-44 |
PFAM |
|
low complexity region
|
597 |
608 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206363
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] UNC45A plays a role in cell proliferation and myoblast fusion, binds progesterone receptor (PGR; MIM 607311) and HSP90 (HSPCA; MIM 140571), and acts as a regulator of the progesterone receptor chaperoning pathway (Price et al., 2002 [PubMed 12356907]; Chadli et al., 2006 [PubMed 16478993]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
G |
T |
6: 128,544,023 (GRCm39) |
A506D |
probably benign |
Het |
| Agap1 |
G |
T |
1: 89,770,913 (GRCm39) |
V635L |
possibly damaging |
Het |
| Akr1c12 |
T |
C |
13: 4,329,331 (GRCm39) |
K9E |
probably benign |
Het |
| Alms1 |
T |
A |
6: 85,606,034 (GRCm39) |
Y2561* |
probably null |
Het |
| Atm |
T |
C |
9: 53,382,718 (GRCm39) |
H1957R |
probably damaging |
Het |
| Bcr |
T |
C |
10: 74,996,222 (GRCm39) |
F922S |
probably benign |
Het |
| Cfap44 |
T |
A |
16: 44,291,230 (GRCm39) |
|
probably benign |
Het |
| Chil5 |
A |
G |
3: 105,926,906 (GRCm39) |
V243A |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 15,960,465 (GRCm39) |
C3317R |
probably damaging |
Het |
| Dsc1 |
T |
C |
18: 20,241,942 (GRCm39) |
K133R |
probably damaging |
Het |
| Ecm1 |
T |
A |
3: 95,644,989 (GRCm39) |
Q136L |
probably damaging |
Het |
| Fscn3 |
C |
A |
6: 28,435,997 (GRCm39) |
A431E |
possibly damaging |
Het |
| Gas7 |
C |
T |
11: 67,565,061 (GRCm39) |
|
probably benign |
Het |
| Gbx2 |
A |
G |
1: 89,856,517 (GRCm39) |
V291A |
probably damaging |
Het |
| Hipk3 |
G |
A |
2: 104,301,604 (GRCm39) |
T196M |
probably damaging |
Het |
| Il20ra |
T |
A |
10: 19,634,789 (GRCm39) |
N343K |
probably benign |
Het |
| Il24 |
C |
T |
1: 130,813,470 (GRCm39) |
W42* |
probably null |
Het |
| Kif13b |
A |
T |
14: 65,005,166 (GRCm39) |
I1153F |
probably damaging |
Het |
| Krt1c |
A |
T |
15: 101,719,763 (GRCm39) |
S636T |
unknown |
Het |
| Or11g24 |
A |
T |
14: 50,662,389 (GRCm39) |
M138L |
possibly damaging |
Het |
| Or13a25 |
C |
T |
7: 140,247,463 (GRCm39) |
P81S |
probably damaging |
Het |
| Or14c40 |
T |
C |
7: 86,313,737 (GRCm39) |
F289S |
probably damaging |
Het |
| Or4k52 |
T |
A |
2: 111,610,955 (GRCm39) |
C97S |
probably damaging |
Het |
| Or6d15 |
A |
T |
6: 116,559,505 (GRCm39) |
M134K |
probably damaging |
Het |
| Osmr |
T |
C |
15: 6,845,378 (GRCm39) |
D796G |
possibly damaging |
Het |
| Peli2 |
A |
T |
14: 48,477,754 (GRCm39) |
T99S |
probably benign |
Het |
| Pi4k2a |
A |
T |
19: 42,101,510 (GRCm39) |
K317N |
probably benign |
Het |
| Pik3r1 |
T |
G |
13: 101,894,037 (GRCm39) |
D44A |
probably benign |
Het |
| Pkhd1 |
G |
T |
1: 20,678,640 (GRCm39) |
S96* |
probably null |
Het |
| Plekha5 |
A |
G |
6: 140,489,904 (GRCm39) |
E9G |
probably damaging |
Het |
| Plekha8 |
T |
C |
6: 54,592,254 (GRCm39) |
F71S |
probably damaging |
Het |
| Polq |
G |
T |
16: 36,906,928 (GRCm39) |
L2296F |
probably damaging |
Het |
| Rbm5 |
G |
A |
9: 107,631,384 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
T |
C |
2: 37,295,366 (GRCm39) |
K217E |
probably damaging |
Het |
| Scrib |
A |
G |
15: 75,937,056 (GRCm39) |
L350P |
probably damaging |
Het |
| Slc4a10 |
T |
A |
2: 62,098,487 (GRCm39) |
S540R |
probably damaging |
Het |
| Smc3 |
G |
T |
19: 53,611,988 (GRCm39) |
V354L |
probably benign |
Het |
| Smurf1 |
T |
A |
5: 144,836,199 (GRCm39) |
I105F |
probably damaging |
Het |
| Stx7 |
G |
T |
10: 24,031,247 (GRCm39) |
R17L |
probably benign |
Het |
| Tbca |
C |
T |
13: 94,979,203 (GRCm39) |
R74C |
probably benign |
Het |
| Tmem92 |
T |
C |
11: 94,669,504 (GRCm39) |
Q153R |
possibly damaging |
Het |
| Trim41 |
C |
A |
11: 48,698,307 (GRCm39) |
G553V |
probably damaging |
Het |
| Trim75 |
A |
T |
8: 65,435,417 (GRCm39) |
N344K |
possibly damaging |
Het |
| Tsr1 |
A |
G |
11: 74,791,075 (GRCm39) |
D218G |
probably benign |
Het |
| Ubr2 |
A |
C |
17: 47,286,877 (GRCm39) |
V474G |
probably damaging |
Het |
| Zfp609 |
C |
T |
9: 65,610,675 (GRCm39) |
A763T |
probably benign |
Het |
|
| Other mutations in Unc45a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02252:Unc45a
|
APN |
7 |
79,982,717 (GRCm39) |
intron |
probably benign |
|
|
IGL02266:Unc45a
|
APN |
7 |
79,978,234 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02383:Unc45a
|
APN |
7 |
79,989,410 (GRCm39) |
nonsense |
probably null |
|
|
IGL03168:Unc45a
|
APN |
7 |
79,982,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4131001:Unc45a
|
UTSW |
7 |
79,976,109 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0095:Unc45a
|
UTSW |
7 |
79,979,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0095:Unc45a
|
UTSW |
7 |
79,979,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0276:Unc45a
|
UTSW |
7 |
79,976,045 (GRCm39) |
intron |
probably benign |
|
|
R0373:Unc45a
|
UTSW |
7 |
79,976,092 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1827:Unc45a
|
UTSW |
7 |
79,981,488 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2120:Unc45a
|
UTSW |
7 |
79,989,846 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2440:Unc45a
|
UTSW |
7 |
79,978,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2442:Unc45a
|
UTSW |
7 |
79,989,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2508:Unc45a
|
UTSW |
7 |
79,988,623 (GRCm39) |
missense |
probably benign |
|
|
R3077:Unc45a
|
UTSW |
7 |
79,988,680 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3108:Unc45a
|
UTSW |
7 |
79,981,294 (GRCm39) |
intron |
probably benign |
|
|
R3109:Unc45a
|
UTSW |
7 |
79,981,294 (GRCm39) |
intron |
probably benign |
|
|
R3620:Unc45a
|
UTSW |
7 |
79,983,799 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4471:Unc45a
|
UTSW |
7 |
79,982,728 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4644:Unc45a
|
UTSW |
7 |
79,978,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4651:Unc45a
|
UTSW |
7 |
79,982,777 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4838:Unc45a
|
UTSW |
7 |
79,982,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5234:Unc45a
|
UTSW |
7 |
79,978,547 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5452:Unc45a
|
UTSW |
7 |
79,978,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5574:Unc45a
|
UTSW |
7 |
79,984,604 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5750:Unc45a
|
UTSW |
7 |
79,984,571 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6169:Unc45a
|
UTSW |
7 |
79,978,511 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6417:Unc45a
|
UTSW |
7 |
79,989,400 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6420:Unc45a
|
UTSW |
7 |
79,989,400 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6486:Unc45a
|
UTSW |
7 |
79,989,400 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6533:Unc45a
|
UTSW |
7 |
79,983,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6734:Unc45a
|
UTSW |
7 |
79,986,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6993:Unc45a
|
UTSW |
7 |
79,975,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7085:Unc45a
|
UTSW |
7 |
79,976,082 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7180:Unc45a
|
UTSW |
7 |
79,979,569 (GRCm39) |
splice site |
probably null |
|
|
R7561:Unc45a
|
UTSW |
7 |
79,981,334 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8079:Unc45a
|
UTSW |
7 |
79,981,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8395:Unc45a
|
UTSW |
7 |
79,976,080 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8547:Unc45a
|
UTSW |
7 |
79,975,840 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9620:Unc45a
|
UTSW |
7 |
79,975,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9621:Unc45a
|
UTSW |
7 |
79,983,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9694:Unc45a
|
UTSW |
7 |
79,975,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9728:Unc45a
|
UTSW |
7 |
79,978,448 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2015-12-18 |
Incidental Mutation