Incidental Mutation 'R3109:Unc45a'
ID |
263698 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Unc45a
|
Ensembl Gene |
ENSMUSG00000030533 |
Gene Name |
unc-45 myosin chaperone A |
Synonyms |
|
MMRRC Submission |
040583-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3109 (G1)
|
Quality Score |
182 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
79975040-79990748 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 79981294 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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
100% (33/33) |
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
A |
G |
2: 152,284,376 (GRCm39) |
E323G |
probably damaging |
Het |
Adamts20 |
T |
C |
15: 94,243,785 (GRCm39) |
|
probably benign |
Het |
Alkbh3 |
T |
C |
2: 93,835,108 (GRCm39) |
E80G |
probably damaging |
Het |
Amfr |
T |
C |
8: 94,726,934 (GRCm39) |
Y93C |
probably damaging |
Het |
Arid2 |
T |
C |
15: 96,254,627 (GRCm39) |
Y158H |
probably damaging |
Het |
Camk1g |
T |
C |
1: 193,037,301 (GRCm39) |
Y133C |
probably damaging |
Het |
Cnnm1 |
T |
C |
19: 43,430,000 (GRCm39) |
C373R |
probably damaging |
Het |
Cnot1 |
A |
G |
8: 96,462,377 (GRCm39) |
V1691A |
probably damaging |
Het |
Cubn |
T |
C |
2: 13,367,158 (GRCm39) |
S1571G |
possibly damaging |
Het |
Dclk2 |
G |
A |
3: 86,827,342 (GRCm39) |
P46S |
probably damaging |
Het |
Dennd1b |
G |
A |
1: 138,969,654 (GRCm39) |
|
probably benign |
Het |
Dmrt2 |
C |
A |
19: 25,655,055 (GRCm39) |
T218N |
probably benign |
Het |
Drd4 |
T |
A |
7: 140,872,195 (GRCm39) |
V82E |
possibly damaging |
Het |
Fat1 |
G |
A |
8: 45,498,210 (GRCm39) |
|
probably null |
Het |
Fyn |
G |
C |
10: 39,427,451 (GRCm39) |
D445H |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,925,586 (GRCm39) |
D56G |
probably benign |
Het |
Igkv11-125 |
T |
C |
6: 67,890,855 (GRCm39) |
F58L |
possibly damaging |
Het |
Klhdc4 |
A |
C |
8: 122,548,073 (GRCm39) |
H72Q |
probably damaging |
Het |
Kmt2c |
A |
G |
5: 25,480,733 (GRCm39) |
Y1459H |
probably damaging |
Het |
Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
Muc5b |
C |
T |
7: 141,412,496 (GRCm39) |
T1814M |
unknown |
Het |
Ntrk3 |
C |
T |
7: 78,110,263 (GRCm39) |
V324M |
probably benign |
Het |
Or52s1b |
T |
A |
7: 102,822,293 (GRCm39) |
M184L |
probably damaging |
Het |
Per2 |
A |
T |
1: 91,373,297 (GRCm39) |
C164S |
probably benign |
Het |
Ptprn2 |
A |
G |
12: 116,839,800 (GRCm39) |
D441G |
probably benign |
Het |
Rbl2 |
T |
A |
8: 91,828,863 (GRCm39) |
I588N |
probably benign |
Het |
Rslcan18 |
C |
T |
13: 67,246,671 (GRCm39) |
E314K |
possibly damaging |
Het |
Ubr3 |
A |
T |
2: 69,819,184 (GRCm39) |
T1325S |
probably damaging |
Het |
Vmn1r175 |
A |
G |
7: 23,508,393 (GRCm39) |
V78A |
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 |
|
IGL02959:Unc45a
|
APN |
7 |
79,982,721 (GRCm39) |
intron |
probably benign |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGGCCTTTCTAACCAGCAG -3'
(R):5'- TGTCATGGAGAGCGTGATAGC -3'
Sequencing Primer
(F):5'- CTTTCTAACCAGCAGGGGACAG -3'
(R):5'- AGCGTGATAGCTCTGTGC -3'
|
Posted On |
2015-02-05 |