Incidental Mutation 'R2406:Ncoa3'
| ID |
247993 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncoa3
|
| Ensembl Gene |
ENSMUSG00000027678 |
| Gene Name |
nuclear receptor coactivator 3 |
| Synonyms |
2010305B15Rik, AIB1, KAT13B, RAC3, TRAM1, TRAM-1, bHLHe42, pCIP, Src3 |
| MMRRC Submission |
040372-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R2406 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
165834557-165915162 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 165897279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 690
(V690A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104875
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088095]
[ENSMUST00000109252]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088095
AA Change: V690A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085416
Gene: ENSMUSG00000027678
AA Change: V690A
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
32 |
89 |
5.63e-9 |
SMART |
|
PAS
|
113 |
179 |
1.16e-11 |
SMART |
|
Pfam:PAS_11
|
261 |
372 |
1.6e-34 |
PFAM |
|
Pfam:NCOA_u2
|
451 |
564 |
7.1e-46 |
PFAM |
|
low complexity region
|
586 |
599 |
N/A |
INTRINSIC |
|
Pfam:SRC-1
|
608 |
696 |
1.6e-32 |
PFAM |
|
Pfam:DUF4927
|
714 |
801 |
2e-32 |
PFAM |
|
coiled coil region
|
960 |
997 |
N/A |
INTRINSIC |
|
Pfam:Nuc_rec_co-act
|
1056 |
1104 |
2.1e-27 |
PFAM |
|
low complexity region
|
1180 |
1197 |
N/A |
INTRINSIC |
|
low complexity region
|
1221 |
1233 |
N/A |
INTRINSIC |
|
low complexity region
|
1243 |
1263 |
N/A |
INTRINSIC |
|
DUF1518
|
1270 |
1327 |
1.08e-21 |
SMART |
|
low complexity region
|
1384 |
1398 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109252
AA Change: V690A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104875
Gene: ENSMUSG00000027678
AA Change: V690A
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
32 |
89 |
5.63e-9 |
SMART |
|
PAS
|
113 |
179 |
1.16e-11 |
SMART |
|
Pfam:PAS_11
|
261 |
372 |
4.1e-34 |
PFAM |
|
low complexity region
|
438 |
467 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
522 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
586 |
599 |
N/A |
INTRINSIC |
|
Pfam:SRC-1
|
608 |
696 |
3.5e-28 |
PFAM |
|
coiled coil region
|
960 |
997 |
N/A |
INTRINSIC |
|
Pfam:Nuc_rec_co-act
|
1056 |
1106 |
6.6e-29 |
PFAM |
|
low complexity region
|
1180 |
1197 |
N/A |
INTRINSIC |
|
low complexity region
|
1218 |
1232 |
N/A |
INTRINSIC |
|
low complexity region
|
1242 |
1262 |
N/A |
INTRINSIC |
|
DUF1518
|
1269 |
1326 |
1.08e-21 |
SMART |
|
low complexity region
|
1383 |
1397 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153507
|
| Meta Mutation Damage Score |
0.6682 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
95% (42/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear receptor coactivator that interacts with nuclear hormone receptors to enhance their transcriptional activator functions. The encoded protein has histone acetyltransferase activity and recruits p300/CBP-associated factor and CREB binding protein as part of a multisubunit coactivation complex. This protein is initially found in the cytoplasm but is translocated into the nucleus upon phosphorylation. Several transcript variants encoding different isoforms have been found for this gene. In addition, a polymorphic repeat region is found in the C-terminus of the encoded protein. [provided by RefSeq, Mar 2010]
PHENOTYPE: Nullizygous mice exhibit growth defects and reduced serum IGF-1 levels and may show impaired proliferative responses to various factors, delayed mammary gland growth and puberty, reproductive dysfunction, susceptibility to endotoxin shock, altered lymphopoiesis, and protection against obesity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
T |
A |
17: 35,879,352 (GRCm39) |
V230E |
probably damaging |
Het |
| Adam22 |
A |
T |
5: 8,230,064 (GRCm39) |
|
probably benign |
Het |
| AW554918 |
A |
G |
18: 25,473,344 (GRCm39) |
I180V |
possibly damaging |
Het |
| C9 |
T |
C |
15: 6,512,780 (GRCm39) |
S301P |
possibly damaging |
Het |
| Cdc42bpb |
T |
C |
12: 111,268,558 (GRCm39) |
Q1214R |
probably benign |
Het |
| Chaf1b |
T |
C |
16: 93,697,043 (GRCm39) |
I351T |
probably damaging |
Het |
| Clip1 |
T |
C |
5: 123,741,723 (GRCm39) |
E1177G |
probably damaging |
Het |
| Colgalt1 |
G |
A |
8: 72,070,312 (GRCm39) |
C198Y |
probably damaging |
Het |
| Dennd4b |
C |
T |
3: 90,182,795 (GRCm39) |
R871C |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,611,457 (GRCm39) |
D433V |
probably benign |
Het |
| Eif4ebp1 |
A |
G |
8: 27,763,362 (GRCm39) |
I52V |
probably damaging |
Het |
| Fbxw5 |
T |
C |
2: 25,394,195 (GRCm39) |
I86T |
probably damaging |
Het |
| Gm10650 |
A |
G |
3: 127,833,530 (GRCm39) |
|
noncoding transcript |
Het |
| Helz |
G |
A |
11: 107,577,378 (GRCm39) |
A1910T |
unknown |
Het |
| Hsf2 |
C |
T |
10: 57,373,642 (GRCm39) |
T70I |
probably damaging |
Het |
| Ifih1 |
A |
G |
2: 62,437,447 (GRCm39) |
|
probably benign |
Het |
| Kdm2a |
T |
C |
19: 4,372,546 (GRCm39) |
D933G |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,429,346 (GRCm39) |
I832T |
probably damaging |
Het |
| Mapk15 |
T |
C |
15: 75,870,697 (GRCm39) |
S512P |
possibly damaging |
Het |
| Mybpc2 |
A |
T |
7: 44,171,149 (GRCm39) |
I134N |
possibly damaging |
Het |
| Myh4 |
A |
G |
11: 67,150,000 (GRCm39) |
E1853G |
probably damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or5b97 |
A |
G |
19: 12,878,991 (GRCm39) |
V51A |
probably benign |
Het |
| Pacsin2 |
A |
T |
15: 83,269,313 (GRCm39) |
|
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,155,596 (GRCm39) |
L2416Q |
probably damaging |
Het |
| Pip5k1c |
T |
A |
10: 81,144,858 (GRCm39) |
I233N |
probably damaging |
Het |
| Ptcd3 |
T |
C |
6: 71,865,631 (GRCm39) |
D428G |
probably damaging |
Het |
| Ptprf |
T |
C |
4: 118,126,501 (GRCm39) |
D84G |
possibly damaging |
Het |
| Rasgrf2 |
T |
C |
13: 92,120,359 (GRCm39) |
D798G |
probably benign |
Het |
| Setd7 |
A |
G |
3: 51,450,097 (GRCm39) |
Y110H |
probably damaging |
Het |
| Sgta |
T |
C |
10: 80,887,081 (GRCm39) |
I61M |
possibly damaging |
Het |
| Shank1 |
A |
G |
7: 44,006,376 (GRCm39) |
D2031G |
possibly damaging |
Het |
| Skint5 |
A |
G |
4: 113,799,864 (GRCm39) |
Y88H |
probably damaging |
Het |
| Spata31f1a |
A |
T |
4: 42,851,696 (GRCm39) |
D153E |
probably benign |
Het |
| Stox1 |
T |
C |
10: 62,499,945 (GRCm39) |
I872V |
probably benign |
Het |
| Tmc4 |
A |
G |
7: 3,674,025 (GRCm39) |
F385L |
probably benign |
Het |
| Top3a |
A |
G |
11: 60,646,838 (GRCm39) |
F258L |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,780,499 (GRCm39) |
Y1084C |
probably damaging |
Het |
| Ubtf |
A |
T |
11: 102,199,528 (GRCm39) |
Y504* |
probably null |
Het |
| Wdfy3 |
T |
C |
5: 102,036,125 (GRCm39) |
T2098A |
probably damaging |
Het |
| Wnk2 |
G |
T |
13: 49,214,964 (GRCm39) |
T1194K |
possibly damaging |
Het |
| Zbtb40 |
T |
A |
4: 136,725,879 (GRCm39) |
E560V |
probably benign |
Het |
|
| Other mutations in Ncoa3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00929:Ncoa3
|
APN |
2 |
165,893,529 (GRCm39) |
splice site |
probably null |
|
|
IGL01068:Ncoa3
|
APN |
2 |
165,894,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01300:Ncoa3
|
APN |
2 |
165,910,381 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01336:Ncoa3
|
APN |
2 |
165,896,443 (GRCm39) |
missense |
probably benign |
|
|
IGL01533:Ncoa3
|
APN |
2 |
165,896,945 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01658:Ncoa3
|
APN |
2 |
165,893,222 (GRCm39) |
splice site |
probably benign |
|
|
IGL02053:Ncoa3
|
APN |
2 |
165,896,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02138:Ncoa3
|
APN |
2 |
165,897,182 (GRCm39) |
missense |
probably benign |
|
|
IGL02167:Ncoa3
|
APN |
2 |
165,912,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02217:Ncoa3
|
APN |
2 |
165,897,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02312:Ncoa3
|
APN |
2 |
165,899,120 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02381:Ncoa3
|
APN |
2 |
165,894,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02568:Ncoa3
|
APN |
2 |
165,911,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02658:Ncoa3
|
APN |
2 |
165,893,313 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02806:Ncoa3
|
APN |
2 |
165,894,352 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0054:Ncoa3
|
UTSW |
2 |
165,897,098 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0054:Ncoa3
|
UTSW |
2 |
165,897,098 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0240:Ncoa3
|
UTSW |
2 |
165,896,320 (GRCm39) |
missense |
probably benign |
|
|
R0240:Ncoa3
|
UTSW |
2 |
165,896,320 (GRCm39) |
missense |
probably benign |
|
|
R0333:Ncoa3
|
UTSW |
2 |
165,896,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0379:Ncoa3
|
UTSW |
2 |
165,896,422 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0411:Ncoa3
|
UTSW |
2 |
165,910,463 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0734:Ncoa3
|
UTSW |
2 |
165,911,111 (GRCm39) |
unclassified |
probably benign |
|
|
R1434:Ncoa3
|
UTSW |
2 |
165,897,430 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1491:Ncoa3
|
UTSW |
2 |
165,897,182 (GRCm39) |
missense |
probably benign |
|
|
R1721:Ncoa3
|
UTSW |
2 |
165,911,221 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1895:Ncoa3
|
UTSW |
2 |
165,901,097 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1896:Ncoa3
|
UTSW |
2 |
165,890,384 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1946:Ncoa3
|
UTSW |
2 |
165,901,097 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3800:Ncoa3
|
UTSW |
2 |
165,901,639 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R3825:Ncoa3
|
UTSW |
2 |
165,896,718 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4377:Ncoa3
|
UTSW |
2 |
165,896,417 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4674:Ncoa3
|
UTSW |
2 |
165,901,731 (GRCm39) |
missense |
probably benign |
|
|
R4706:Ncoa3
|
UTSW |
2 |
165,889,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4751:Ncoa3
|
UTSW |
2 |
165,911,823 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4954:Ncoa3
|
UTSW |
2 |
165,907,706 (GRCm39) |
missense |
probably benign |
|
|
R4976:Ncoa3
|
UTSW |
2 |
165,889,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4992:Ncoa3
|
UTSW |
2 |
165,911,859 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5100:Ncoa3
|
UTSW |
2 |
165,892,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5578:Ncoa3
|
UTSW |
2 |
165,896,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5932:Ncoa3
|
UTSW |
2 |
165,912,045 (GRCm39) |
splice site |
probably null |
|
|
R6051:Ncoa3
|
UTSW |
2 |
165,900,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6370:Ncoa3
|
UTSW |
2 |
165,907,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6372:Ncoa3
|
UTSW |
2 |
165,901,267 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6373:Ncoa3
|
UTSW |
2 |
165,901,267 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7438:Ncoa3
|
UTSW |
2 |
165,910,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7660:Ncoa3
|
UTSW |
2 |
165,911,241 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7738:Ncoa3
|
UTSW |
2 |
165,891,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7752:Ncoa3
|
UTSW |
2 |
165,907,688 (GRCm39) |
nonsense |
probably null |
|
|
R7970:Ncoa3
|
UTSW |
2 |
165,893,277 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8829:Ncoa3
|
UTSW |
2 |
165,892,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9133:Ncoa3
|
UTSW |
2 |
165,910,381 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9625:Ncoa3
|
UTSW |
2 |
165,899,130 (GRCm39) |
missense |
probably benign |
|
|
X0018:Ncoa3
|
UTSW |
2 |
165,896,722 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
Z1177:Ncoa3
|
UTSW |
2 |
165,890,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGCAGTTACTCACGTGC -3'
(R):5'- CAGCTCTTTGGCAAGCACATC -3'
Sequencing Primer
(F):5'- AGGCCATTCCTCCTTGACCAAC -3'
(R):5'- TTTGGCAAGCACATCACTGG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation