Incidental Mutation 'R6734:Unc45a'
| ID |
528343 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc45a
|
| Ensembl Gene |
ENSMUSG00000030533 |
| Gene Name |
unc-45 myosin chaperone A |
| Synonyms |
|
| MMRRC Submission |
044852-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6734 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
79975040-79990748 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 79986746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Arginine
at position 149
(T149R)
|
| 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: T149R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032748
Gene: ENSMUSG00000030533
AA Change: T149R
| 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: T149R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102991
Gene: ENSMUSG00000030533
AA Change: T149R
| 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 |
unknown
Transcript: ENSMUST00000133728
AA Change: T134R
|
| SMART Domains |
Protein: ENSMUSP00000123399
Gene: ENSMUSG00000030533
AA Change: T134R
| 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: T149R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119665
Gene: ENSMUSG00000030533
AA Change: T149R
| 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 |
unknown
Transcript: ENSMUST00000206363
AA Change: T83R
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206032
|
| Meta Mutation Damage Score |
0.3361 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (52/52) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Ano6 |
A |
G |
15: 95,847,417 (GRCm39) |
K554R |
probably damaging |
Het |
| Arhgef10 |
A |
T |
8: 15,025,053 (GRCm39) |
I703F |
probably damaging |
Het |
| Bbs1 |
T |
C |
19: 4,953,924 (GRCm39) |
S80G |
probably benign |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Camk1 |
C |
A |
6: 113,311,345 (GRCm39) |
R352L |
probably benign |
Het |
| Cand1 |
G |
A |
10: 119,047,897 (GRCm39) |
P531L |
possibly damaging |
Het |
| Cnot2 |
G |
A |
10: 116,334,058 (GRCm39) |
P371S |
possibly damaging |
Het |
| Col24a1 |
C |
A |
3: 145,214,429 (GRCm39) |
P1384Q |
probably benign |
Het |
| Csmd2 |
C |
A |
4: 128,357,606 (GRCm39) |
T1689K |
probably benign |
Het |
| Cyp26a1 |
T |
A |
19: 37,689,660 (GRCm39) |
L452H |
probably damaging |
Het |
| Dcpp2 |
T |
C |
17: 24,119,545 (GRCm39) |
Y120H |
probably damaging |
Het |
| Dennd6a |
G |
T |
14: 26,329,774 (GRCm39) |
R115L |
possibly damaging |
Het |
| Eml2 |
T |
A |
7: 18,934,432 (GRCm39) |
V377E |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,334,629 (GRCm39) |
E855G |
probably benign |
Het |
| Fam149a |
A |
T |
8: 45,834,478 (GRCm39) |
I107K |
probably benign |
Het |
| Fam227b |
A |
T |
2: 125,968,896 (GRCm39) |
Y59* |
probably null |
Het |
| Fbn2 |
T |
C |
18: 58,169,032 (GRCm39) |
E2249G |
probably damaging |
Het |
| Flrt1 |
T |
C |
19: 7,073,524 (GRCm39) |
D341G |
possibly damaging |
Het |
| Galnt9 |
G |
A |
5: 110,768,465 (GRCm39) |
R587H |
probably damaging |
Het |
| Gsdma2 |
A |
G |
11: 98,540,416 (GRCm39) |
T112A |
possibly damaging |
Het |
| Klhl24 |
T |
C |
16: 19,926,279 (GRCm39) |
V269A |
probably damaging |
Het |
| Lcorl |
A |
G |
5: 45,890,839 (GRCm39) |
S505P |
probably damaging |
Het |
| Liph |
A |
G |
16: 21,802,707 (GRCm39) |
S121P |
probably damaging |
Het |
| Lrp4 |
G |
A |
2: 91,316,242 (GRCm39) |
V787M |
possibly damaging |
Het |
| Lrrd1 |
A |
C |
5: 3,900,226 (GRCm39) |
D177A |
possibly damaging |
Het |
| Mbd1 |
G |
A |
18: 74,409,114 (GRCm39) |
R399H |
probably damaging |
Het |
| Naa25 |
C |
T |
5: 121,576,888 (GRCm39) |
T879M |
possibly damaging |
Het |
| Naa35 |
T |
G |
13: 59,756,005 (GRCm39) |
L147R |
possibly damaging |
Het |
| Ninl |
C |
A |
2: 150,787,003 (GRCm39) |
|
probably null |
Het |
| Nrap |
T |
C |
19: 56,333,941 (GRCm39) |
D972G |
probably damaging |
Het |
| Or9k7 |
A |
G |
10: 130,046,126 (GRCm39) |
F291S |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,592,551 (GRCm39) |
E31G |
probably damaging |
Het |
| Plec |
C |
T |
15: 76,078,603 (GRCm39) |
E41K |
probably damaging |
Het |
| Plxnb1 |
A |
T |
9: 108,937,988 (GRCm39) |
K1245* |
probably null |
Het |
| Ppfia1 |
T |
C |
7: 144,032,790 (GRCm39) |
T1263A |
probably damaging |
Het |
| Prex2 |
G |
A |
1: 11,150,283 (GRCm39) |
V152I |
probably damaging |
Het |
| Prpf40b |
C |
T |
15: 99,212,784 (GRCm39) |
R627W |
probably damaging |
Het |
| Prss3l |
T |
C |
6: 41,422,321 (GRCm39) |
Y28C |
probably damaging |
Het |
| Prune2 |
T |
G |
19: 16,981,097 (GRCm39) |
F85V |
probably damaging |
Het |
| Rrp1b |
T |
G |
17: 32,274,278 (GRCm39) |
|
probably benign |
Het |
| Sec62 |
A |
G |
3: 30,864,609 (GRCm39) |
T158A |
probably benign |
Het |
| Sema6a |
G |
A |
18: 47,412,236 (GRCm39) |
T526I |
probably benign |
Het |
| Shank1 |
G |
T |
7: 44,003,110 (GRCm39) |
A1610S |
probably benign |
Het |
| Slc24a4 |
T |
C |
12: 102,185,259 (GRCm39) |
V123A |
probably damaging |
Het |
| Stk11ip |
T |
C |
1: 75,509,013 (GRCm39) |
V714A |
probably benign |
Het |
| Tas1r3 |
T |
C |
4: 155,945,257 (GRCm39) |
T655A |
probably damaging |
Het |
| Tns2 |
G |
T |
15: 102,011,551 (GRCm39) |
L10F |
probably damaging |
Het |
| Trmt10c |
A |
G |
16: 55,854,489 (GRCm39) |
V382A |
probably benign |
Het |
| Zhx3 |
T |
G |
2: 160,623,640 (GRCm39) |
I176L |
probably damaging |
Het |
| Zscan12 |
T |
A |
13: 21,552,966 (GRCm39) |
C263* |
probably null |
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 |
|
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'- AGGACTCACAAGCTCCTTCC -3'
(R):5'- AGATGCCTGGCAAGTCTCTTC -3'
Sequencing Primer
(F):5'- TCCTACACAGGAGGCGTG -3'
(R):5'- CTGCCTGCCATGGTTGCTAG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation