Incidental Mutation 'R0095:Unc45a'
ID |
64032 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Unc45a
|
Ensembl Gene |
ENSMUSG00000030533 |
Gene Name |
unc-45 myosin chaperone A |
Synonyms |
|
MMRRC Submission |
038381-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0095 (G1)
|
Quality Score |
136 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
79975040-79990748 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 79979291 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 567
(D567G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119665
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032748]
[ENSMUST00000107368]
[ENSMUST00000133728]
[ENSMUST00000154428]
|
AlphaFold |
Q99KD5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032748
AA Change: D567G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032748 Gene: ENSMUSG00000030533 AA Change: D567G
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 damaging
Transcript: ENSMUST00000107368
AA Change: D567G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102991 Gene: ENSMUSG00000030533 AA Change: D567G
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 damaging
Transcript: ENSMUST00000154428
AA Change: D567G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119665 Gene: ENSMUSG00000030533 AA Change: D567G
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 |
0.9091 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.7%
|
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: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anxa8 |
G |
A |
14: 33,808,028 (GRCm39) |
A6T |
probably benign |
Het |
Bicc1 |
T |
A |
10: 70,796,988 (GRCm39) |
I42F |
probably damaging |
Het |
Cutc |
T |
C |
19: 43,741,638 (GRCm39) |
W13R |
probably benign |
Het |
F5 |
A |
T |
1: 164,019,537 (GRCm39) |
R671* |
probably null |
Het |
Fer |
A |
T |
17: 64,248,321 (GRCm39) |
E361V |
possibly damaging |
Het |
Hnrnpa3 |
G |
T |
2: 75,492,040 (GRCm39) |
R52L |
probably damaging |
Het |
Igsf10 |
A |
T |
3: 59,238,617 (GRCm39) |
Y521* |
probably null |
Het |
Lratd2 |
T |
C |
15: 60,695,425 (GRCm39) |
Y107C |
probably damaging |
Het |
Mmp1a |
G |
A |
9: 7,465,621 (GRCm39) |
G186D |
possibly damaging |
Het |
Naip1 |
T |
C |
13: 100,559,591 (GRCm39) |
T1138A |
probably benign |
Het |
Necab1 |
T |
A |
4: 14,960,027 (GRCm39) |
N307Y |
possibly damaging |
Het |
Or5p81 |
A |
C |
7: 108,267,252 (GRCm39) |
I210L |
probably benign |
Het |
Plekha5 |
T |
C |
6: 140,474,323 (GRCm39) |
F84L |
probably damaging |
Het |
Rpl6 |
T |
G |
5: 121,343,902 (GRCm39) |
V115G |
possibly damaging |
Het |
Sec16a |
A |
T |
2: 26,315,772 (GRCm39) |
|
probably null |
Het |
Tpsg1 |
T |
C |
17: 25,591,528 (GRCm39) |
W43R |
probably damaging |
Het |
Usp30 |
T |
A |
5: 114,243,901 (GRCm39) |
F157I |
probably damaging |
Het |
Zfp345 |
T |
A |
2: 150,314,220 (GRCm39) |
H439L |
probably damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTAACTCCTCCAGGGCAACTGTG -3'
(R):5'- GCTGCCTTCTGTTAGACAAACCCTC -3'
Sequencing Primer
(F):5'- GCAACTGTGCTTCCAGACC -3'
(R):5'- ctcactaaacacaaaccagcc -3'
|
Posted On |
2013-08-06 |