Incidental Mutation 'IGL02624:Ncoa5'
| ID |
300988 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ncoa5
|
| Ensembl Gene |
ENSMUSG00000039804 |
| Gene Name |
nuclear receptor coactivator 5 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02624
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
164842277-164876787 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 164854981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 47
(D47V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040381]
[ENSMUST00000121377]
[ENSMUST00000122070]
[ENSMUST00000153905]
|
| AlphaFold |
Q91W39 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040381
AA Change: D47V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000046388
Gene: ENSMUSG00000039804
AA Change: D47V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
118 |
N/A |
INTRINSIC |
|
coiled coil region
|
163 |
190 |
N/A |
INTRINSIC |
|
SCOP:d1kmma1
|
195 |
287 |
2e-9 |
SMART |
|
PDB:1V95|A
|
197 |
314 |
3e-79 |
PDB |
|
low complexity region
|
324 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
460 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121377
|
| SMART Domains |
Protein: ENSMUSP00000113872
Gene: ENSMUSG00000039804
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1V95|A
|
1 |
34 |
2e-15 |
PDB |
|
low complexity region
|
44 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
180 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000122070
AA Change: D47V
|
| SMART Domains |
Protein: ENSMUSP00000113166
Gene: ENSMUSG00000039804
AA Change: D47V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
118 |
N/A |
INTRINSIC |
|
coiled coil region
|
163 |
190 |
N/A |
INTRINSIC |
|
SCOP:d1kmma1
|
195 |
287 |
1e-8 |
SMART |
|
PDB:1V95|A
|
197 |
314 |
2e-80 |
PDB |
|
low complexity region
|
324 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
376 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127545
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000153905
AA Change: D47V
|
| SMART Domains |
Protein: ENSMUSP00000116778
Gene: ENSMUSG00000039804
AA Change: D47V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
68 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coregulator for the alpha and beta estrogen receptors and the orphan nuclear receptor NR1D2. The protein localizes to the nucleus, and is thought to have both coactivator and corepressor functions. Its interaction with nuclear receptors is independent of the AF2 domain on the receptors, which is known to regulate interaction with other coreceptors. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2017]
PHENOTYPE: Male mice heterozygous for a knock-out allele exhibit infertility, impaired glucose homeostasis, liver dysplasia and HCC. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930004D18Rik |
A |
G |
2: 18,032,004 (GRCm39) |
V38A |
unknown |
Het |
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Brk1 |
T |
G |
6: 113,581,805 (GRCm39) |
I22M |
possibly damaging |
Het |
| Cd3g |
A |
G |
9: 44,885,459 (GRCm39) |
|
probably null |
Het |
| Cep192 |
T |
C |
18: 68,013,866 (GRCm39) |
V2422A |
probably benign |
Het |
| Ces2g |
T |
C |
8: 105,691,380 (GRCm39) |
V172A |
probably damaging |
Het |
| Clcn2 |
G |
T |
16: 20,522,098 (GRCm39) |
S830R |
probably damaging |
Het |
| Cyp26b1 |
T |
C |
6: 84,561,321 (GRCm39) |
S114G |
probably benign |
Het |
| Dnali1 |
T |
C |
4: 124,952,791 (GRCm39) |
Q244R |
probably benign |
Het |
| Entpd1 |
A |
T |
19: 40,714,502 (GRCm39) |
K204* |
probably null |
Het |
| Gm5070 |
A |
G |
3: 95,318,219 (GRCm39) |
|
noncoding transcript |
Het |
| Gpsm2 |
G |
T |
3: 108,589,349 (GRCm39) |
D596E |
probably benign |
Het |
| Hectd1 |
C |
T |
12: 51,809,233 (GRCm39) |
A1743T |
possibly damaging |
Het |
| Kcnq5 |
T |
G |
1: 21,472,654 (GRCm39) |
L845F |
probably benign |
Het |
| Lmx1a |
G |
T |
1: 167,672,192 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,408,291 (GRCm39) |
I1795N |
probably damaging |
Het |
| Lsp1 |
C |
T |
7: 142,044,288 (GRCm39) |
|
probably benign |
Het |
| Mcm6 |
C |
T |
1: 128,277,185 (GRCm39) |
A213T |
possibly damaging |
Het |
| Mylk |
G |
T |
16: 34,750,266 (GRCm39) |
V1202L |
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,848,010 (GRCm39) |
Y1083H |
probably damaging |
Het |
| Npat |
C |
T |
9: 53,478,110 (GRCm39) |
T954I |
probably damaging |
Het |
| Or2b28 |
A |
G |
13: 21,531,682 (GRCm39) |
T195A |
probably benign |
Het |
| Or5p1 |
A |
T |
7: 107,916,130 (GRCm39) |
T10S |
probably benign |
Het |
| Pfkm |
T |
C |
15: 98,024,276 (GRCm39) |
I428T |
probably benign |
Het |
| Rai1 |
T |
C |
11: 60,079,569 (GRCm39) |
F1211S |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,308,355 (GRCm39) |
E338G |
probably benign |
Het |
| Tbx18 |
T |
C |
9: 87,609,459 (GRCm39) |
Y192C |
probably damaging |
Het |
| Tex21 |
T |
A |
12: 76,261,398 (GRCm39) |
D250V |
probably damaging |
Het |
| Tpo |
A |
G |
12: 30,150,413 (GRCm39) |
V489A |
probably benign |
Het |
| Tspo |
T |
C |
15: 83,455,616 (GRCm39) |
M1T |
probably null |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Wnk2 |
C |
T |
13: 49,256,278 (GRCm39) |
G281D |
probably damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,304,085 (GRCm39) |
T1300A |
probably benign |
Het |
|
| Other mutations in Ncoa5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02285:Ncoa5
|
APN |
2 |
164,844,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0383:Ncoa5
|
UTSW |
2 |
164,851,310 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0835:Ncoa5
|
UTSW |
2 |
164,844,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1667:Ncoa5
|
UTSW |
2 |
164,843,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2110:Ncoa5
|
UTSW |
2 |
164,854,838 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4887:Ncoa5
|
UTSW |
2 |
164,844,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5100:Ncoa5
|
UTSW |
2 |
164,851,309 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5631:Ncoa5
|
UTSW |
2 |
164,855,041 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6616:Ncoa5
|
UTSW |
2 |
164,852,483 (GRCm39) |
nonsense |
probably null |
|
|
R6737:Ncoa5
|
UTSW |
2 |
164,844,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7015:Ncoa5
|
UTSW |
2 |
164,844,001 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7567:Ncoa5
|
UTSW |
2 |
164,846,171 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7840:Ncoa5
|
UTSW |
2 |
164,854,816 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8289:Ncoa5
|
UTSW |
2 |
164,854,982 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8915:Ncoa5
|
UTSW |
2 |
164,854,927 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9502:Ncoa5
|
UTSW |
2 |
164,854,802 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Posted On |
2015-04-16 |
Incidental Mutation