Incidental Mutation 'R8547:Unc45a'
| ID |
659681 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc45a
|
| Ensembl Gene |
ENSMUSG00000030533 |
| Gene Name |
unc-45 myosin chaperone A |
| Synonyms |
|
| MMRRC Submission |
068512-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8547 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
79975040-79990748 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79975840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 833
(L833Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032748]
[ENSMUST00000047362]
[ENSMUST00000107368]
[ENSMUST00000121882]
[ENSMUST00000123189]
[ENSMUST00000154428]
|
| AlphaFold |
Q99KD5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032748
AA Change: L833Q
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000032748
Gene: ENSMUSG00000030533
AA Change: L833Q
| 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: ENSMUST00000047362
|
| SMART Domains |
Protein: ENSMUSP00000048043
Gene: ENSMUSG00000038930
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
18 |
N/A |
INTRINSIC |
|
Pfam:RCC1
|
179 |
228 |
2.9e-17 |
PFAM |
|
Pfam:RCC1_2
|
215 |
244 |
1.3e-10 |
PFAM |
|
Pfam:RCC1
|
231 |
316 |
7.8e-9 |
PFAM |
|
Pfam:RCC1_2
|
303 |
332 |
3.3e-10 |
PFAM |
|
Pfam:RCC1
|
319 |
370 |
4.1e-13 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107368
AA Change: L833Q
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102991
Gene: ENSMUSG00000030533
AA Change: L833Q
| 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: ENSMUST00000121882
|
| SMART Domains |
Protein: ENSMUSP00000113273
Gene: ENSMUSG00000038930
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
18 |
N/A |
INTRINSIC |
|
Pfam:RCC1
|
179 |
228 |
7.4e-18 |
PFAM |
|
Pfam:RCC1_2
|
216 |
244 |
5.5e-10 |
PFAM |
|
Pfam:RCC1_2
|
304 |
332 |
6.2e-10 |
PFAM |
|
Pfam:RCC1
|
319 |
370 |
1.3e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123189
|
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,616,474 (GRCm39) |
V972A |
probably benign |
Het |
| Adamts14 |
T |
G |
10: 61,106,998 (GRCm39) |
T41P |
probably damaging |
Het |
| Adamtsl3 |
C |
T |
7: 82,077,621 (GRCm39) |
T102I |
probably damaging |
Het |
| Ago3 |
T |
C |
4: 126,264,109 (GRCm39) |
I366V |
probably null |
Het |
| Aldh1a7 |
A |
G |
19: 20,692,067 (GRCm39) |
V242A |
possibly damaging |
Het |
| Asxl3 |
T |
C |
18: 22,655,829 (GRCm39) |
S1280P |
probably benign |
Het |
| Caprin1 |
G |
T |
2: 103,599,862 (GRCm39) |
N604K |
probably damaging |
Het |
| Catsperb |
T |
C |
12: 101,412,305 (GRCm39) |
W131R |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,345,725 (GRCm39) |
E957G |
probably damaging |
Het |
| Ccn6 |
T |
A |
10: 39,027,194 (GRCm39) |
D346V |
probably damaging |
Het |
| Cd28 |
G |
A |
1: 60,785,681 (GRCm39) |
V17I |
probably benign |
Het |
| Cfl2 |
A |
T |
12: 54,908,398 (GRCm39) |
L75* |
probably null |
Het |
| Clspn |
T |
A |
4: 126,455,609 (GRCm39) |
L45H |
probably damaging |
Het |
| Col4a2 |
A |
G |
8: 11,479,305 (GRCm39) |
|
probably null |
Het |
| Cracd |
GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG |
GCGCGAGGCCGAGAGGCAGG |
5: 77,004,801 (GRCm39) |
|
probably benign |
Het |
| Dgka |
A |
T |
10: 128,556,881 (GRCm39) |
I663N |
probably damaging |
Het |
| Eppk1 |
C |
T |
15: 75,993,249 (GRCm39) |
V1211I |
probably benign |
Het |
| Fam193b |
A |
G |
13: 55,698,117 (GRCm39) |
S280P |
probably damaging |
Het |
| Fgd2 |
C |
T |
17: 29,583,934 (GRCm39) |
A116V |
probably damaging |
Het |
| Fmo5 |
C |
A |
3: 97,558,811 (GRCm39) |
Q424K |
probably benign |
Het |
| Fn3k |
T |
C |
11: 121,340,987 (GRCm39) |
L214P |
probably damaging |
Het |
| Gm3404 |
A |
T |
5: 146,465,108 (GRCm39) |
R283W |
possibly damaging |
Het |
| Gtdc1 |
A |
G |
2: 44,678,993 (GRCm39) |
|
probably benign |
Het |
| Hepacam |
T |
C |
9: 37,279,049 (GRCm39) |
I26T |
probably benign |
Het |
| Hltf |
T |
C |
3: 20,152,291 (GRCm39) |
F596L |
probably damaging |
Het |
| Ipo7 |
T |
G |
7: 109,652,000 (GRCm39) |
D926E |
probably benign |
Het |
| Krt16 |
G |
A |
11: 100,137,083 (GRCm39) |
Q463* |
probably null |
Het |
| Lats1 |
T |
C |
10: 7,588,613 (GRCm39) |
F1077L |
probably damaging |
Het |
| Lrrc69 |
T |
C |
4: 14,704,014 (GRCm39) |
I269V |
probably benign |
Het |
| Mcm6 |
C |
T |
1: 128,273,685 (GRCm39) |
E382K |
possibly damaging |
Het |
| Npbwr1 |
A |
T |
1: 5,987,446 (GRCm39) |
C23S |
possibly damaging |
Het |
| Nsd3 |
T |
C |
8: 26,184,811 (GRCm39) |
C962R |
probably damaging |
Het |
| Nufip2 |
T |
C |
11: 77,583,391 (GRCm39) |
L435P |
probably damaging |
Het |
| Or10d4c |
C |
T |
9: 39,558,798 (GRCm39) |
Q259* |
probably null |
Het |
| Or1e23 |
T |
C |
11: 73,407,440 (GRCm39) |
N195S |
probably damaging |
Het |
| Potegl |
A |
T |
2: 23,120,135 (GRCm39) |
Y177F |
probably damaging |
Het |
| Psen1 |
T |
C |
12: 83,761,630 (GRCm39) |
V144A |
possibly damaging |
Het |
| Psmg2 |
T |
A |
18: 67,779,077 (GRCm39) |
S82T |
possibly damaging |
Het |
| Ptcd2 |
A |
C |
13: 99,469,462 (GRCm39) |
F154V |
probably damaging |
Het |
| Ptchd4 |
A |
C |
17: 42,813,512 (GRCm39) |
D471A |
probably benign |
Het |
| Robo4 |
C |
T |
9: 37,315,674 (GRCm39) |
T309I |
possibly damaging |
Het |
| Runx3 |
T |
C |
4: 134,898,455 (GRCm39) |
F209L |
probably damaging |
Het |
| Setd1a |
T |
C |
7: 127,395,676 (GRCm39) |
|
probably benign |
Het |
| Slc35g3 |
T |
C |
11: 69,652,446 (GRCm39) |
E22G |
probably benign |
Het |
| Spag9 |
T |
A |
11: 94,013,647 (GRCm39) |
M1303K |
possibly damaging |
Het |
| Ssh2 |
T |
A |
11: 77,340,533 (GRCm39) |
S562T |
probably benign |
Het |
| Tiparp |
T |
C |
3: 65,453,798 (GRCm39) |
|
probably null |
Het |
| Topbp1 |
C |
T |
9: 103,213,264 (GRCm39) |
P1028L |
probably benign |
Het |
| Vmn2r85 |
T |
C |
10: 130,261,311 (GRCm39) |
Y342C |
probably damaging |
Het |
| Vmn2r95 |
G |
A |
17: 18,664,161 (GRCm39) |
C460Y |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,852,848 (GRCm39) |
I2376N |
probably damaging |
Het |
| Zbtb21 |
C |
A |
16: 97,753,315 (GRCm39) |
A351S |
possibly damaging |
Het |
| Zzef1 |
T |
G |
11: 72,735,267 (GRCm39) |
Y623D |
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 |
|
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 |
|
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'- CACATCTACGCTCTAGGAACTC -3'
(R):5'- CAAAGAGGTGAGCGTTGGTC -3'
Sequencing Primer
(F):5'- GCTCTAGGAACTCCCCGAC -3'
(R):5'- TCGCCATGACTGACAGGTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation