Incidental Mutation 'R4878:Ncoa1'
| ID |
375079 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncoa1
|
| Ensembl Gene |
ENSMUSG00000020647 |
| Gene Name |
nuclear receptor coactivator 1 |
| Synonyms |
KAT13A, steroid receptor coactivator-1, SRC-a/NCoA-1, SRC1, SRC-1, bHLHe74 |
| MMRRC Submission |
042487-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4878 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
4297362-4527182 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 4325004 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 970
(G970D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151358
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085814]
[ENSMUST00000217674]
[ENSMUST00000217794]
[ENSMUST00000220434]
|
| AlphaFold |
P70365 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085814
AA Change: G970D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082971
Gene: ENSMUSG00000020647
AA Change: G970D
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
29 |
86 |
1.73e-9 |
SMART |
|
PAS
|
111 |
178 |
1.32e-10 |
SMART |
|
Pfam:PAS_11
|
259 |
370 |
8e-37 |
PFAM |
|
low complexity region
|
419 |
441 |
N/A |
INTRINSIC |
|
Pfam:NCOA_u2
|
468 |
591 |
1.3e-29 |
PFAM |
|
Pfam:SRC-1
|
632 |
712 |
3.5e-26 |
PFAM |
|
low complexity region
|
724 |
736 |
N/A |
INTRINSIC |
|
PDB:3RVF|B
|
747 |
767 |
1e-6 |
PDB |
|
low complexity region
|
777 |
785 |
N/A |
INTRINSIC |
|
low complexity region
|
869 |
880 |
N/A |
INTRINSIC |
|
Pfam:Nuc_rec_co-act
|
930 |
977 |
2.3e-23 |
PFAM |
|
low complexity region
|
1059 |
1080 |
N/A |
INTRINSIC |
|
low complexity region
|
1125 |
1137 |
N/A |
INTRINSIC |
|
DUF1518
|
1155 |
1211 |
7.47e-16 |
SMART |
|
DUF1518
|
1218 |
1274 |
1.14e-11 |
SMART |
|
low complexity region
|
1303 |
1315 |
N/A |
INTRINSIC |
|
low complexity region
|
1333 |
1354 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217674
AA Change: G859D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217794
AA Change: G970D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218191
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220434
AA Change: G970D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.5529 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
96% (70/73) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts as a transcriptional coactivator for steroid and nuclear hormone receptors. It is a member of the p160/steroid receptor coactivator (SRC) family and like other family members has histone acetyltransferase activity and contains a nuclear localization signal, as well as bHLH and PAS domains. The product of this gene binds nuclear receptors directly and stimulates the transcriptional activities in a hormone-dependent fashion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show osteopenia, increased serum sex hormone levels, altered bone remodeling and skeletal responses to sex hormones, and obesity. Homozygotes for another null allele show thyroid and steroid hormone resistance, delayed Purkinje cell development, and behavioral deficits. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
C |
A |
4: 144,340,415 (GRCm39) |
H47N |
possibly damaging |
Het |
| Adgrg3 |
A |
T |
8: 95,761,714 (GRCm39) |
N159I |
possibly damaging |
Het |
| Agrn |
A |
T |
4: 156,255,302 (GRCm39) |
L1449Q |
probably damaging |
Het |
| Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
| Atg2a |
A |
T |
19: 6,300,274 (GRCm39) |
E694V |
probably damaging |
Het |
| Ccndbp1 |
T |
A |
2: 120,845,172 (GRCm39) |
L363* |
probably null |
Het |
| Cdh16 |
A |
T |
8: 105,344,696 (GRCm39) |
D478E |
probably damaging |
Het |
| Cep295 |
A |
T |
9: 15,246,252 (GRCm39) |
W735R |
probably benign |
Het |
| Cnnm2 |
C |
T |
19: 46,847,522 (GRCm39) |
P682S |
probably benign |
Het |
| Daam2 |
C |
A |
17: 49,767,738 (GRCm39) |
R951L |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 49,984,543 (GRCm39) |
F180I |
probably damaging |
Het |
| Dnajc6 |
T |
C |
4: 101,456,231 (GRCm39) |
|
probably benign |
Het |
| Efemp2 |
A |
T |
19: 5,530,789 (GRCm39) |
|
probably benign |
Het |
| Emilin1 |
A |
G |
5: 31,074,410 (GRCm39) |
D217G |
probably benign |
Het |
| Enpep |
A |
T |
3: 129,070,420 (GRCm39) |
M829K |
probably benign |
Het |
| Epb41l4a |
A |
G |
18: 33,931,625 (GRCm39) |
V623A |
probably damaging |
Het |
| Erlin2 |
T |
A |
8: 27,517,194 (GRCm39) |
|
probably null |
Het |
| Fbln2 |
T |
C |
6: 91,233,977 (GRCm39) |
|
probably null |
Het |
| Gga3 |
A |
T |
11: 115,482,147 (GRCm39) |
I157N |
probably damaging |
Het |
| Gtpbp6 |
C |
T |
5: 110,255,177 (GRCm39) |
|
probably benign |
Het |
| Hps4 |
T |
C |
5: 112,523,234 (GRCm39) |
V584A |
probably benign |
Het |
| Ighv1-50 |
T |
C |
12: 115,083,567 (GRCm39) |
Y51C |
probably benign |
Het |
| Kif13b |
T |
C |
14: 65,043,603 (GRCm39) |
L1801P |
probably benign |
Het |
| Kif16b |
T |
C |
2: 142,689,923 (GRCm39) |
I330V |
probably damaging |
Het |
| Klb |
A |
T |
5: 65,505,833 (GRCm39) |
R27W |
probably damaging |
Het |
| Lrif1 |
A |
T |
3: 106,642,956 (GRCm39) |
K169M |
probably damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,508,717 (GRCm39) |
|
probably benign |
Het |
| Met |
A |
G |
6: 17,549,058 (GRCm39) |
D970G |
probably damaging |
Het |
| Mical3 |
A |
T |
6: 120,946,348 (GRCm39) |
M1051K |
possibly damaging |
Het |
| Mios |
A |
G |
6: 8,215,094 (GRCm39) |
N97D |
probably benign |
Het |
| Msh5 |
G |
A |
17: 35,257,432 (GRCm39) |
R321C |
probably damaging |
Het |
| Mybpc1 |
T |
C |
10: 88,387,292 (GRCm39) |
Q473R |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,109,406 (GRCm39) |
Y232C |
probably damaging |
Het |
| Nefh |
A |
G |
11: 4,891,333 (GRCm39) |
S429P |
probably damaging |
Het |
| Notch3 |
C |
T |
17: 32,366,059 (GRCm39) |
G1014D |
probably damaging |
Het |
| Nup107 |
A |
T |
10: 117,587,323 (GRCm39) |
C859S |
probably benign |
Het |
| Or1d2 |
T |
C |
11: 74,255,674 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or2n1d |
T |
G |
17: 38,646,518 (GRCm39) |
F157V |
probably benign |
Het |
| Or5m3b |
A |
G |
2: 85,871,799 (GRCm39) |
I47V |
probably benign |
Het |
| Otud7b |
T |
A |
3: 96,043,821 (GRCm39) |
|
probably benign |
Het |
| Pde1a |
A |
T |
2: 79,708,483 (GRCm39) |
S312T |
probably benign |
Het |
| Piwil1 |
G |
T |
5: 128,818,045 (GRCm39) |
R94L |
probably damaging |
Het |
| Pnma2 |
G |
A |
14: 67,154,503 (GRCm39) |
W309* |
probably null |
Het |
| Ppef2 |
A |
C |
5: 92,376,599 (GRCm39) |
|
probably null |
Het |
| Rabac1 |
T |
A |
7: 24,669,392 (GRCm39) |
Q212L |
possibly damaging |
Het |
| Rad51 |
T |
C |
2: 118,950,973 (GRCm39) |
|
probably benign |
Het |
| Rbm48 |
A |
T |
5: 3,641,853 (GRCm39) |
|
probably benign |
Het |
| Rft1 |
C |
T |
14: 30,399,761 (GRCm39) |
S315L |
probably benign |
Het |
| Rgs13 |
C |
T |
1: 144,047,217 (GRCm39) |
M1I |
probably null |
Het |
| Rhbg |
A |
C |
3: 88,154,760 (GRCm39) |
S215A |
probably benign |
Het |
| Rufy2 |
A |
T |
10: 62,837,990 (GRCm39) |
N379I |
probably damaging |
Het |
| Slc17a1 |
T |
C |
13: 24,064,637 (GRCm39) |
L367P |
probably damaging |
Het |
| Slc25a39 |
G |
A |
11: 102,294,501 (GRCm39) |
R308C |
probably benign |
Het |
| Smo |
A |
G |
6: 29,753,570 (GRCm39) |
T149A |
probably benign |
Het |
| Sqle |
A |
G |
15: 59,187,934 (GRCm39) |
K81E |
probably benign |
Het |
| Tfpi |
A |
G |
2: 84,282,899 (GRCm39) |
|
probably null |
Het |
| Tnk2 |
A |
G |
16: 32,498,448 (GRCm39) |
D572G |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,006,808 (GRCm39) |
M1149K |
probably benign |
Het |
| Utrn |
T |
A |
10: 12,603,502 (GRCm39) |
Q626L |
probably damaging |
Het |
| Virma |
T |
A |
4: 11,544,971 (GRCm39) |
H1643Q |
probably damaging |
Het |
| Wnt3 |
G |
T |
11: 103,699,031 (GRCm39) |
G46C |
possibly damaging |
Het |
| Zkscan7 |
G |
T |
9: 122,719,865 (GRCm39) |
G184* |
probably null |
Het |
|
| Other mutations in Ncoa1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00598:Ncoa1
|
APN |
12 |
4,328,218 (GRCm39) |
missense |
probably benign |
|
|
IGL01335:Ncoa1
|
APN |
12 |
4,347,520 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02111:Ncoa1
|
APN |
12 |
4,324,944 (GRCm39) |
start codon destroyed |
probably null |
|
|
IGL02863:Ncoa1
|
APN |
12 |
4,347,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02967:Ncoa1
|
APN |
12 |
4,345,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03007:Ncoa1
|
APN |
12 |
4,389,114 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03031:Ncoa1
|
APN |
12 |
4,324,818 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL03048:Ncoa1
|
UTSW |
12 |
4,317,922 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03147:Ncoa1
|
UTSW |
12 |
4,309,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT1430001:Ncoa1
|
UTSW |
12 |
4,373,005 (GRCm39) |
missense |
probably benign |
0.19 |
|
PIT4402001:Ncoa1
|
UTSW |
12 |
4,344,987 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0002:Ncoa1
|
UTSW |
12 |
4,340,885 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0011:Ncoa1
|
UTSW |
12 |
4,372,896 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0389:Ncoa1
|
UTSW |
12 |
4,345,976 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0467:Ncoa1
|
UTSW |
12 |
4,317,687 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0480:Ncoa1
|
UTSW |
12 |
4,389,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0541:Ncoa1
|
UTSW |
12 |
4,373,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0671:Ncoa1
|
UTSW |
12 |
4,299,758 (GRCm39) |
splice site |
probably null |
|
|
R1387:Ncoa1
|
UTSW |
12 |
4,324,790 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1426:Ncoa1
|
UTSW |
12 |
4,320,737 (GRCm39) |
splice site |
probably benign |
|
|
R1538:Ncoa1
|
UTSW |
12 |
4,320,748 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1577:Ncoa1
|
UTSW |
12 |
4,345,196 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1902:Ncoa1
|
UTSW |
12 |
4,389,049 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1905:Ncoa1
|
UTSW |
12 |
4,345,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2026:Ncoa1
|
UTSW |
12 |
4,317,647 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2259:Ncoa1
|
UTSW |
12 |
4,365,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2317:Ncoa1
|
UTSW |
12 |
4,325,189 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3608:Ncoa1
|
UTSW |
12 |
4,328,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4042:Ncoa1
|
UTSW |
12 |
4,317,871 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4688:Ncoa1
|
UTSW |
12 |
4,365,781 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4763:Ncoa1
|
UTSW |
12 |
4,325,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5062:Ncoa1
|
UTSW |
12 |
4,309,333 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5531:Ncoa1
|
UTSW |
12 |
4,303,746 (GRCm39) |
missense |
probably benign |
|
|
R6393:Ncoa1
|
UTSW |
12 |
4,328,181 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6711:Ncoa1
|
UTSW |
12 |
4,372,904 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7066:Ncoa1
|
UTSW |
12 |
4,372,934 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7109:Ncoa1
|
UTSW |
12 |
4,372,978 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7170:Ncoa1
|
UTSW |
12 |
4,299,722 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7395:Ncoa1
|
UTSW |
12 |
4,345,188 (GRCm39) |
missense |
not run |
|
|
R7453:Ncoa1
|
UTSW |
12 |
4,309,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7556:Ncoa1
|
UTSW |
12 |
4,320,794 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7821:Ncoa1
|
UTSW |
12 |
4,346,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7872:Ncoa1
|
UTSW |
12 |
4,328,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7885:Ncoa1
|
UTSW |
12 |
4,389,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7936:Ncoa1
|
UTSW |
12 |
4,385,873 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7940:Ncoa1
|
UTSW |
12 |
4,363,095 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8126:Ncoa1
|
UTSW |
12 |
4,340,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8176:Ncoa1
|
UTSW |
12 |
4,317,858 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8492:Ncoa1
|
UTSW |
12 |
4,313,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8510:Ncoa1
|
UTSW |
12 |
4,309,303 (GRCm39) |
missense |
probably benign |
|
|
R8772:Ncoa1
|
UTSW |
12 |
4,372,940 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9082:Ncoa1
|
UTSW |
12 |
4,346,106 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9094:Ncoa1
|
UTSW |
12 |
4,345,494 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9238:Ncoa1
|
UTSW |
12 |
4,325,177 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9434:Ncoa1
|
UTSW |
12 |
4,365,755 (GRCm39) |
missense |
probably benign |
|
|
R9491:Ncoa1
|
UTSW |
12 |
4,340,912 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9542:Ncoa1
|
UTSW |
12 |
4,325,178 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9625:Ncoa1
|
UTSW |
12 |
4,345,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ncoa1
|
UTSW |
12 |
4,356,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCTATTGAGAGTCTGCCG -3'
(R):5'- GTGCTTGTTCAGACATGGCG -3'
Sequencing Primer
(F):5'- GTGTTACTTGAACCGGCATAGCC -3'
(R):5'- CTTGTTCAGACATGGCGATGAGC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation