Incidental Mutation 'R4471:Unc45a'
| ID |
329430 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc45a
|
| Ensembl Gene |
ENSMUSG00000030533 |
| Gene Name |
unc-45 myosin chaperone A |
| Synonyms |
|
| MMRRC Submission |
041728-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4471 (G1)
|
| Quality Score |
207 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
79975040-79990748 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79982728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 399
(I399T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032748]
[ENSMUST00000107368]
[ENSMUST00000133728]
[ENSMUST00000154428]
|
| AlphaFold |
Q99KD5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032748
AA Change: I399T
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000032748
Gene: ENSMUSG00000030533
AA Change: I399T
| 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 |
possibly damaging
Transcript: ENSMUST00000107368
AA Change: I399T
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102991
Gene: ENSMUSG00000030533
AA Change: I399T
| 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 |
possibly damaging
Transcript: ENSMUST00000154428
AA Change: I399T
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119665
Gene: ENSMUSG00000030533
AA Change: I399T
| 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 |
0.4488 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
99% (69/70) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
A |
G |
3: 127,473,175 (GRCm39) |
S943P |
probably damaging |
Het |
| Ankdd1a |
T |
C |
9: 65,410,791 (GRCm39) |
D398G |
probably damaging |
Het |
| Ankrd13b |
T |
A |
11: 77,367,040 (GRCm39) |
K49M |
probably damaging |
Het |
| Asah1 |
A |
G |
8: 41,796,761 (GRCm39) |
|
probably null |
Het |
| Cdc34b |
A |
G |
11: 94,633,064 (GRCm39) |
E88G |
probably benign |
Het |
| Cdh2 |
T |
C |
18: 16,907,533 (GRCm39) |
|
probably null |
Het |
| Ceacam1 |
T |
A |
7: 25,174,025 (GRCm39) |
N210I |
possibly damaging |
Het |
| Celf3 |
A |
G |
3: 94,395,585 (GRCm39) |
|
probably null |
Het |
| Cfap20dc |
A |
G |
14: 8,536,571 (GRCm38) |
L212P |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,228,833 (GRCm39) |
M2085K |
probably benign |
Het |
| Cpne6 |
G |
A |
14: 55,754,089 (GRCm39) |
V469M |
probably damaging |
Het |
| Cyp2j12 |
A |
G |
4: 96,021,306 (GRCm39) |
V100A |
probably benign |
Het |
| Dnajb4 |
A |
T |
3: 151,890,799 (GRCm39) |
H333Q |
probably benign |
Het |
| Eif3f |
T |
C |
7: 108,540,153 (GRCm39) |
V316A |
possibly damaging |
Het |
| Eml1 |
T |
C |
12: 108,472,894 (GRCm39) |
|
probably benign |
Het |
| Ern1 |
C |
A |
11: 106,310,868 (GRCm39) |
V302L |
possibly damaging |
Het |
| Fam110b |
A |
T |
4: 5,799,092 (GRCm39) |
H170L |
probably benign |
Het |
| Fn3krp |
T |
G |
11: 121,317,499 (GRCm39) |
D146E |
probably benign |
Het |
| Git1 |
A |
G |
11: 77,390,650 (GRCm39) |
T129A |
probably benign |
Het |
| Glrp1 |
T |
A |
1: 88,431,196 (GRCm39) |
Q58L |
unknown |
Het |
| Gpatch2 |
A |
G |
1: 186,965,337 (GRCm39) |
E281G |
probably damaging |
Het |
| Hipk2 |
T |
A |
6: 38,713,857 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
G |
8: 111,313,764 (GRCm39) |
N4214S |
probably damaging |
Het |
| Icam5 |
T |
A |
9: 20,946,802 (GRCm39) |
C443* |
probably null |
Het |
| Impdh1 |
G |
A |
6: 29,204,631 (GRCm39) |
Q307* |
probably null |
Het |
| Ivns1abp |
C |
T |
1: 151,236,990 (GRCm39) |
T447M |
probably benign |
Het |
| Lman1 |
A |
T |
18: 66,124,797 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,668,860 (GRCm39) |
E306G |
probably benign |
Het |
| Msc |
G |
C |
1: 14,825,902 (GRCm39) |
P24R |
probably damaging |
Het |
| Mtif2 |
T |
C |
11: 29,490,053 (GRCm39) |
|
probably benign |
Het |
| Mvp |
C |
T |
7: 126,601,130 (GRCm39) |
M1I |
probably null |
Het |
| Myh7 |
A |
T |
14: 55,229,311 (GRCm39) |
Y162* |
probably null |
Het |
| Nemf |
G |
A |
12: 69,361,216 (GRCm39) |
H956Y |
probably benign |
Het |
| Nktr |
T |
C |
9: 121,577,962 (GRCm39) |
|
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 90,171,515 (GRCm39) |
S276P |
probably damaging |
Het |
| Or8d1 |
T |
C |
9: 38,766,927 (GRCm39) |
S190P |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,423,816 (GRCm39) |
K621E |
probably damaging |
Het |
| Prss2 |
A |
G |
6: 41,499,780 (GRCm39) |
I24V |
probably damaging |
Het |
| R3hcc1l |
T |
C |
19: 42,571,259 (GRCm39) |
|
probably benign |
Het |
| Rest |
T |
C |
5: 77,429,027 (GRCm39) |
V482A |
probably benign |
Het |
| Rexo1 |
A |
T |
10: 80,378,492 (GRCm39) |
S476T |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Slc16a3 |
T |
C |
11: 120,846,774 (GRCm39) |
|
probably benign |
Het |
| Slc5a4b |
G |
A |
10: 75,894,725 (GRCm39) |
Q594* |
probably null |
Het |
| Slk |
T |
G |
19: 47,603,862 (GRCm39) |
V202G |
probably damaging |
Het |
| Smarca2 |
T |
A |
19: 26,597,277 (GRCm39) |
V53D |
possibly damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,080,673 (GRCm39) |
V2036E |
probably benign |
Het |
| Sox5 |
A |
G |
6: 143,790,491 (GRCm39) |
M523T |
possibly damaging |
Het |
| Syt17 |
A |
G |
7: 118,036,040 (GRCm39) |
|
probably null |
Het |
| Taf2 |
T |
C |
15: 54,922,276 (GRCm39) |
D337G |
possibly damaging |
Het |
| Tcstv2a |
G |
T |
13: 120,725,579 (GRCm39) |
R81L |
probably benign |
Het |
| Tecrl |
A |
G |
5: 83,461,134 (GRCm39) |
Y108H |
probably benign |
Het |
| Tln1 |
A |
T |
4: 43,551,018 (GRCm39) |
F409L |
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Ttc23 |
G |
A |
7: 67,319,904 (GRCm39) |
R187Q |
probably benign |
Het |
| Ttl |
T |
C |
2: 128,923,977 (GRCm39) |
V230A |
probably benign |
Het |
| Ube2u |
G |
A |
4: 100,338,843 (GRCm39) |
W36* |
probably null |
Het |
| Ube4a |
A |
T |
9: 44,857,830 (GRCm39) |
|
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Utp25 |
C |
T |
1: 192,812,445 (GRCm39) |
R5Q |
possibly damaging |
Het |
| Wdr59 |
A |
C |
8: 112,193,419 (GRCm39) |
|
probably null |
Het |
| Zfp24 |
A |
G |
18: 24,151,172 (GRCm39) |
|
probably benign |
Het |
| Zfp777 |
A |
T |
6: 48,019,041 (GRCm39) |
W342R |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,697,913 (GRCm39) |
C265* |
probably null |
Het |
| Zzef1 |
T |
A |
11: 72,804,157 (GRCm39) |
L2633Q |
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 |
|
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'- AGCTCAGGAGTTCCCATCTTAAA -3'
(R):5'- CAGGTCTGAAGAAGATTCTGGA -3'
Sequencing Primer
(F):5'- CATGGCTGTCTCAACATGTAAGC -3'
(R):5'- TCTGAAGAAGATTCTGGAGGTGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation