Incidental Mutation 'R5574:Unc45a'
| ID |
437107 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc45a
|
| Ensembl Gene |
ENSMUSG00000030533 |
| Gene Name |
unc-45 myosin chaperone A |
| Synonyms |
|
| MMRRC Submission |
043129-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5574 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
79975040-79990748 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79984604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 232
(A232V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032748]
[ENSMUST00000107368]
[ENSMUST00000127997]
[ENSMUST00000133728]
[ENSMUST00000154428]
|
| AlphaFold |
Q99KD5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032748
AA Change: A232V
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000032748
Gene: ENSMUSG00000030533
AA Change: A232V
| 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: A232V
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102991
Gene: ENSMUSG00000030533
AA Change: A232V
| 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: ENSMUST00000127997
|
| SMART Domains |
Protein: ENSMUSP00000114428
Gene: ENSMUSG00000030533
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPR_11
|
4 |
74 |
8.4e-19 |
PFAM |
|
Pfam:TPR_1
|
6 |
36 |
2.3e-6 |
PFAM |
|
Pfam:TPR_2
|
6 |
37 |
2.6e-6 |
PFAM |
|
Pfam:TPR_16
|
10 |
82 |
1e-7 |
PFAM |
|
Pfam:TPR_1
|
43 |
69 |
4.4e-4 |
PFAM |
|
Pfam:TPR_2
|
43 |
74 |
3.1e-4 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133728
AA Change: A217V
PolyPhen 2
Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000123399
Gene: ENSMUSG00000030533
AA Change: A217V
| 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 |
noncoding transcript
Transcript: ENSMUST00000135503
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141774
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145351
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154428
AA Change: A232V
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119665
Gene: ENSMUSG00000030533
AA Change: A232V
| 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 |
noncoding transcript
Transcript: ENSMUST00000206032
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206363
|
| Meta Mutation Damage Score |
0.1569 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
| Validation Efficiency |
99% (68/69) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
T |
A |
14: 59,380,205 (GRCm39) |
N31I |
possibly damaging |
Het |
| Acvr1b |
T |
A |
15: 101,099,958 (GRCm39) |
M304K |
probably benign |
Het |
| Adamts1 |
G |
T |
16: 85,596,530 (GRCm39) |
D106E |
probably damaging |
Het |
| Atosa |
A |
T |
9: 74,917,672 (GRCm39) |
D757V |
probably damaging |
Het |
| Blm |
C |
A |
7: 80,149,521 (GRCm39) |
C696F |
probably damaging |
Het |
| Bnip3l-ps |
T |
A |
12: 18,267,119 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc171 |
A |
T |
4: 83,611,990 (GRCm39) |
N895I |
probably damaging |
Het |
| Cdhr4 |
A |
T |
9: 107,870,527 (GRCm39) |
|
probably benign |
Het |
| Cfap97 |
T |
C |
8: 46,623,179 (GRCm39) |
S190P |
probably damaging |
Het |
| Chrnb1 |
A |
C |
11: 69,684,509 (GRCm39) |
|
probably benign |
Het |
| Clns1a |
A |
G |
7: 97,370,165 (GRCm39) |
|
probably benign |
Het |
| Col8a2 |
G |
A |
4: 126,205,061 (GRCm39) |
|
probably benign |
Het |
| Cr2 |
T |
A |
1: 194,823,544 (GRCm39) |
E721V |
probably damaging |
Het |
| Csk |
A |
G |
9: 57,536,584 (GRCm39) |
V172A |
probably benign |
Het |
| Cyp2g1 |
G |
A |
7: 26,520,165 (GRCm39) |
V466M |
possibly damaging |
Het |
| Cyp4f13 |
A |
G |
17: 33,148,179 (GRCm39) |
Y349H |
probably benign |
Het |
| Dnm1l |
T |
C |
16: 16,147,685 (GRCm39) |
Y205C |
probably damaging |
Het |
| Dync1i2 |
A |
T |
2: 71,063,994 (GRCm39) |
T113S |
probably benign |
Het |
| Edem2 |
T |
C |
2: 155,558,075 (GRCm39) |
E186G |
probably damaging |
Het |
| Eya2 |
G |
A |
2: 165,605,736 (GRCm39) |
R380H |
probably damaging |
Het |
| Gldn |
A |
G |
9: 54,220,206 (GRCm39) |
T132A |
probably damaging |
Het |
| Gm13941 |
A |
T |
2: 110,930,951 (GRCm39) |
I74K |
unknown |
Het |
| Gm3898 |
C |
T |
9: 43,741,339 (GRCm39) |
|
noncoding transcript |
Het |
| Ighmbp2 |
C |
T |
19: 3,321,536 (GRCm39) |
V408I |
probably benign |
Het |
| Klhdc10 |
C |
T |
6: 30,439,864 (GRCm39) |
L127F |
possibly damaging |
Het |
| Letm1 |
G |
A |
5: 33,926,730 (GRCm39) |
T189M |
possibly damaging |
Het |
| Lrrc17 |
A |
T |
5: 21,775,355 (GRCm39) |
I306F |
possibly damaging |
Het |
| Lrrk2 |
T |
A |
15: 91,671,219 (GRCm39) |
V2000E |
probably damaging |
Het |
| Mettl9 |
A |
T |
7: 120,647,093 (GRCm39) |
E66D |
probably benign |
Het |
| Mroh1 |
T |
A |
15: 76,318,131 (GRCm39) |
V877D |
probably benign |
Het |
| Mycbp2 |
C |
T |
14: 103,380,203 (GRCm39) |
V3760M |
possibly damaging |
Het |
| Nos3 |
A |
G |
5: 24,573,859 (GRCm39) |
T208A |
possibly damaging |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Obp2a |
A |
T |
2: 25,590,842 (GRCm39) |
T70S |
possibly damaging |
Het |
| Or4a72 |
C |
T |
2: 89,405,321 (GRCm39) |
V250I |
possibly damaging |
Het |
| Or52a5b |
T |
G |
7: 103,417,323 (GRCm39) |
I94L |
possibly damaging |
Het |
| Or5al6 |
T |
C |
2: 85,976,535 (GRCm39) |
D181G |
probably damaging |
Het |
| Or8b8 |
A |
T |
9: 37,808,877 (GRCm39) |
Y59F |
probably damaging |
Het |
| Or8h10 |
A |
G |
2: 86,808,867 (GRCm39) |
V91A |
probably benign |
Het |
| Pate2 |
A |
G |
9: 35,597,411 (GRCm39) |
|
probably benign |
Het |
| Pdzph1 |
A |
G |
17: 59,280,942 (GRCm39) |
F447L |
probably benign |
Het |
| Pias1 |
A |
G |
9: 62,827,775 (GRCm39) |
C211R |
probably damaging |
Het |
| Plb1 |
A |
G |
5: 32,487,291 (GRCm39) |
S929G |
probably benign |
Het |
| Pramel32 |
T |
G |
4: 88,546,280 (GRCm39) |
E354A |
probably benign |
Het |
| Prc1 |
G |
A |
7: 79,944,290 (GRCm39) |
|
probably benign |
Het |
| Prex2 |
A |
G |
1: 11,210,282 (GRCm39) |
D574G |
probably damaging |
Het |
| Rapgef4 |
G |
A |
2: 71,864,464 (GRCm39) |
|
probably null |
Het |
| Rmc1 |
CTGTGTGTT |
CTGTGTGTTGTGTGTT |
18: 12,318,063 (GRCm39) |
|
probably null |
Het |
| Rock2 |
T |
C |
12: 17,011,642 (GRCm39) |
M690T |
possibly damaging |
Het |
| Sinhcaf |
C |
T |
6: 148,846,378 (GRCm39) |
|
probably benign |
Het |
| Slc18a2 |
A |
G |
19: 59,249,837 (GRCm39) |
I25V |
probably benign |
Het |
| Slc9a5 |
T |
A |
8: 106,091,323 (GRCm39) |
I701K |
probably benign |
Het |
| Sorcs1 |
T |
A |
19: 50,210,571 (GRCm39) |
N765Y |
probably damaging |
Het |
| Ssh2 |
A |
T |
11: 77,340,941 (GRCm39) |
I698L |
probably benign |
Het |
| Stam |
A |
G |
2: 14,120,675 (GRCm39) |
D58G |
probably damaging |
Het |
| Thsd4 |
C |
A |
9: 59,879,683 (GRCm39) |
R1018L |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,929,998 (GRCm39) |
T2911A |
probably benign |
Het |
| Trpm7 |
A |
C |
2: 126,654,950 (GRCm39) |
F1329L |
probably benign |
Het |
| Ttll9 |
A |
G |
2: 152,826,168 (GRCm39) |
E126G |
possibly damaging |
Het |
| Tubgcp5 |
G |
A |
7: 55,455,077 (GRCm39) |
V258M |
probably benign |
Het |
| Utp14b |
G |
A |
1: 78,644,126 (GRCm39) |
V675M |
probably damaging |
Het |
| Vmn2r67 |
T |
A |
7: 84,801,099 (GRCm39) |
H279L |
probably benign |
Het |
| Vmn2r75 |
G |
T |
7: 85,815,510 (GRCm39) |
A118E |
probably benign |
Het |
| Wdr36 |
A |
T |
18: 32,999,012 (GRCm39) |
Q886L |
probably damaging |
Het |
| Zfp433 |
T |
A |
10: 81,555,125 (GRCm39) |
Y27* |
probably null |
Het |
| Zfp715 |
A |
T |
7: 42,960,463 (GRCm39) |
S43T |
possibly damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,286,698 (GRCm39) |
S2297P |
possibly 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 |
|
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'- ATCACCCTGAAAGACTGGCTG -3'
(R):5'- TCCAGGAAGCAAGGCATGAC -3'
Sequencing Primer
(F):5'- AAGGGACCAGACCTGCTTC -3'
(R):5'- AAGCAAGGCATGACCCCGG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation