Incidental Mutation 'IGL03168:Unc45a'
| ID |
411727 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Unc45a
|
| Ensembl Gene |
ENSMUSG00000030533 |
| Gene Name |
unc-45 myosin chaperone A |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03168
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
79975040-79990748 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79982881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 348
(L348Q)
|
| 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: L348Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032748
Gene: ENSMUSG00000030533
AA Change: L348Q
| 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: L348Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102991
Gene: ENSMUSG00000030533
AA Change: L348Q
| 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: L348Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119665
Gene: ENSMUSG00000030533
AA Change: L348Q
| 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 |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c6 |
T |
C |
13: 4,486,280 (GRCm39) |
V29A |
probably benign |
Het |
| Ankk1 |
C |
A |
9: 49,327,068 (GRCm39) |
A704S |
possibly damaging |
Het |
| Aph1c |
G |
A |
9: 66,740,619 (GRCm39) |
|
probably benign |
Het |
| Arglu1 |
T |
A |
8: 8,733,960 (GRCm39) |
I119L |
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,818,877 (GRCm39) |
S1318R |
possibly damaging |
Het |
| Calhm4 |
C |
T |
10: 33,917,552 (GRCm39) |
V300I |
probably benign |
Het |
| Chd3 |
A |
G |
11: 69,239,741 (GRCm39) |
|
probably benign |
Het |
| Colq |
T |
C |
14: 31,246,377 (GRCm39) |
Y445C |
probably damaging |
Het |
| Cyp2a4 |
A |
T |
7: 26,012,975 (GRCm39) |
|
probably benign |
Het |
| Cyp2j7 |
C |
T |
4: 96,118,274 (GRCm39) |
M106I |
probably benign |
Het |
| Erfe |
T |
G |
1: 91,299,164 (GRCm39) |
N302K |
probably damaging |
Het |
| Fggy |
A |
T |
4: 95,815,046 (GRCm39) |
|
probably benign |
Het |
| Gata3 |
A |
G |
2: 9,873,625 (GRCm39) |
Y290H |
probably damaging |
Het |
| Grik4 |
T |
C |
9: 42,582,539 (GRCm39) |
T136A |
probably damaging |
Het |
| Hc |
G |
T |
2: 34,914,210 (GRCm39) |
N832K |
probably benign |
Het |
| Jhy |
A |
T |
9: 40,828,848 (GRCm39) |
S353T |
possibly damaging |
Het |
| Krt40 |
T |
A |
11: 99,433,854 (GRCm39) |
Q44L |
possibly damaging |
Het |
| Ksr2 |
T |
C |
5: 117,886,846 (GRCm39) |
F794S |
probably damaging |
Het |
| Or2l13 |
A |
T |
16: 19,305,969 (GRCm39) |
H127L |
probably benign |
Het |
| Or2n1e |
A |
C |
17: 38,585,682 (GRCm39) |
S7R |
probably damaging |
Het |
| Or4p7 |
A |
G |
2: 88,221,938 (GRCm39) |
M116V |
probably damaging |
Het |
| Or5ac16 |
A |
G |
16: 59,022,610 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or5t9 |
A |
G |
2: 86,659,607 (GRCm39) |
I170M |
possibly damaging |
Het |
| Or8b1c |
A |
G |
9: 38,384,315 (GRCm39) |
T91A |
probably benign |
Het |
| Pcdhb17 |
A |
G |
18: 37,618,825 (GRCm39) |
E205G |
probably benign |
Het |
| Pon3 |
A |
T |
6: 5,256,177 (GRCm39) |
I17K |
possibly damaging |
Het |
| Prkd2 |
A |
G |
7: 16,584,188 (GRCm39) |
D347G |
possibly damaging |
Het |
| Prkdc |
A |
G |
16: 15,652,030 (GRCm39) |
I3806V |
probably benign |
Het |
| Qpct |
C |
A |
17: 79,359,753 (GRCm39) |
A20E |
unknown |
Het |
| Rap1a |
A |
G |
3: 105,657,587 (GRCm39) |
S11P |
probably damaging |
Het |
| Rnf145 |
C |
A |
11: 44,445,985 (GRCm39) |
T273K |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,364,831 (GRCm39) |
I298T |
probably damaging |
Het |
| Syt6 |
G |
A |
3: 103,494,943 (GRCm39) |
V303M |
probably damaging |
Het |
| Tpr |
A |
G |
1: 150,284,508 (GRCm39) |
I324M |
probably benign |
Het |
| Uggt2 |
A |
G |
14: 119,315,080 (GRCm39) |
F330L |
probably damaging |
Het |
| Vmn1r17 |
T |
A |
6: 57,337,583 (GRCm39) |
I212F |
probably benign |
Het |
| Vmn2r68 |
A |
C |
7: 84,870,972 (GRCm39) |
N770K |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,673,132 (GRCm39) |
V1394A |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation