Incidental Mutation 'R4713:Ncoa4'
| ID |
353398 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncoa4
|
| Ensembl Gene |
ENSMUSG00000056234 |
| Gene Name |
nuclear receptor coactivator 4 |
| Synonyms |
|
| MMRRC Submission |
041601-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R4713 (G1)
|
| Quality Score |
111 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
32159865-32179855 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32176641 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 473
(C473S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126071
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013845]
[ENSMUST00000111994]
[ENSMUST00000163336]
[ENSMUST00000163379]
[ENSMUST00000164341]
[ENSMUST00000168034]
[ENSMUST00000168114]
[ENSMUST00000168334]
[ENSMUST00000168385]
[ENSMUST00000169722]
[ENSMUST00000226479]
[ENSMUST00000170331]
[ENSMUST00000226683]
|
| AlphaFold |
Q5U4H9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013845
|
| SMART Domains |
Protein: ENSMUSP00000013845
Gene: ENSMUSG00000013701
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
25 |
N/A |
INTRINSIC |
|
Pfam:Tim17
|
76 |
196 |
6.6e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111994
AA Change: C473S
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000107625
Gene: ENSMUSG00000056234
AA Change: C473S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ARA70
|
37 |
168 |
5e-44 |
PFAM |
|
Pfam:ARA70
|
197 |
338 |
5.1e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163336
AA Change: C473S
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000126071
Gene: ENSMUSG00000056234
AA Change: C473S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ARA70
|
33 |
169 |
2.4e-28 |
PFAM |
|
Pfam:ARA70
|
199 |
334 |
4.7e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163379
|
| SMART Domains |
Protein: ENSMUSP00000129688
Gene: ENSMUSG00000013701
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
25 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164341
|
| SMART Domains |
Protein: ENSMUSP00000126780
Gene: ENSMUSG00000056234
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ARA70
|
37 |
99 |
3.2e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168034
|
| SMART Domains |
Protein: ENSMUSP00000129422
Gene: ENSMUSG00000056234
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ARA70
|
45 |
131 |
1.3e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168114
|
| SMART Domains |
Protein: ENSMUSP00000131253
Gene: ENSMUSG00000056234
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ARA70
|
64 |
105 |
2.2e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168139
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168334
|
| SMART Domains |
Protein: ENSMUSP00000128739
Gene: ENSMUSG00000056234
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ARA70
|
37 |
96 |
1.1e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168385
|
| SMART Domains |
Protein: ENSMUSP00000126222
Gene: ENSMUSG00000056234
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ARA70
|
1 |
73 |
8.2e-24 |
PFAM |
|
Pfam:ARA70
|
102 |
205 |
2.9e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169722
|
| SMART Domains |
Protein: ENSMUSP00000129917
Gene: ENSMUSG00000056234
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ARA70
|
37 |
168 |
6.5e-45 |
PFAM |
|
Pfam:ARA70
|
196 |
337 |
6.3e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226479
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228779
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170331
|
| SMART Domains |
Protein: ENSMUSP00000126977
Gene: ENSMUSG00000013701
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
25 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227112
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226683
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227498
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 94.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an androgen receptor coactivator. The encoded protein interacts with the androgen receptor in a ligand-dependent manner to enhance its transcriptional activity. Chromosomal translocations between this gene and the ret tyrosine kinase gene, also located on chromosome 10, have been associated with papillary thyroid carcinoma. Alternatively spliced transcript variants have been described. Pseudogenes are present on chromosomes 4, 5, 10, and 14. [provided by RefSeq, Feb 2009]
PHENOTYPE: Mouse embryonic fibroblasts isolated from homozygous null mice exhibit abnormal DNA replication, decreased fibroblast proliferation, and early cellular replicative senescence. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
G |
T |
1: 25,547,532 (GRCm38) |
T360K |
probably damaging |
Het |
| AW551984 |
T |
C |
9: 39,597,153 (GRCm38) |
K356E |
probably benign |
Het |
| Bpifb2 |
T |
A |
2: 153,881,193 (GRCm38) |
V123E |
probably damaging |
Het |
| Cacna1a |
T |
G |
8: 84,549,514 (GRCm38) |
F532V |
probably damaging |
Het |
| Cct8 |
C |
A |
16: 87,487,688 (GRCm38) |
E204* |
probably null |
Het |
| Cd163 |
T |
A |
6: 124,317,618 (GRCm38) |
|
probably null |
Het |
| Cep152 |
C |
A |
2: 125,587,948 (GRCm38) |
A685S |
possibly damaging |
Het |
| Chdh |
A |
G |
14: 30,036,841 (GRCm38) |
D581G |
probably benign |
Het |
| Cnpy3 |
A |
C |
17: 46,747,465 (GRCm38) |
Y77* |
probably null |
Het |
| Col5a3 |
T |
C |
9: 20,793,574 (GRCm38) |
E762G |
unknown |
Het |
| Creb3 |
A |
G |
4: 43,563,247 (GRCm38) |
T115A |
probably benign |
Het |
| Dlat |
G |
T |
9: 50,644,481 (GRCm38) |
A412E |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,476,688 (GRCm38) |
N1789S |
probably damaging |
Het |
| Dzank1 |
C |
T |
2: 144,491,804 (GRCm38) |
E370K |
probably benign |
Het |
| Eif3m |
A |
T |
2: 105,006,839 (GRCm38) |
|
probably null |
Het |
| Gimap8 |
A |
T |
6: 48,658,986 (GRCm38) |
M562L |
probably benign |
Het |
| Gm15448 |
G |
T |
7: 3,822,681 (GRCm38) |
Y396* |
probably null |
Het |
| Gprc6a |
T |
A |
10: 51,631,457 (GRCm38) |
|
probably benign |
Het |
| Gsr |
T |
G |
8: 33,680,319 (GRCm38) |
|
probably null |
Het |
| Gstcd |
A |
G |
3: 132,983,099 (GRCm38) |
V630A |
probably damaging |
Het |
| Hip1r |
T |
C |
5: 123,989,980 (GRCm38) |
I116T |
probably benign |
Het |
| Hivep3 |
A |
G |
4: 120,131,803 (GRCm38) |
E1817G |
probably damaging |
Het |
| Inpp5f |
A |
C |
7: 128,663,725 (GRCm38) |
T135P |
probably damaging |
Het |
| Ism2 |
A |
G |
12: 87,285,027 (GRCm38) |
|
silent |
Het |
| Itga11 |
A |
G |
9: 62,765,788 (GRCm38) |
D784G |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,373,173 (GRCm38) |
F837S |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,396,958 (GRCm38) |
E10G |
probably damaging |
Het |
| Knl1 |
A |
T |
2: 119,069,137 (GRCm38) |
K440* |
probably null |
Het |
| Lonp2 |
T |
C |
8: 86,713,315 (GRCm38) |
S648P |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,359,868 (GRCm38) |
S1622P |
probably benign |
Het |
| Lrp2 |
G |
T |
2: 69,487,966 (GRCm38) |
A2047D |
probably damaging |
Het |
| Mcm3 |
G |
A |
1: 20,803,577 (GRCm38) |
T773I |
probably benign |
Het |
| Mfsd7a |
T |
C |
5: 108,442,079 (GRCm38) |
T486A |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,695,469 (GRCm38) |
V2612A |
probably benign |
Het |
| Mnx1 |
C |
A |
5: 29,478,131 (GRCm38) |
G49W |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,849,079 (GRCm38) |
Y673* |
probably null |
Het |
| Myo15 |
A |
G |
11: 60,479,930 (GRCm38) |
H1172R |
probably benign |
Het |
| Myo1g |
T |
C |
11: 6,516,080 (GRCm38) |
K363R |
probably null |
Het |
| Nefh |
T |
C |
11: 4,939,656 (GRCm38) |
T988A |
unknown |
Het |
| Nwd2 |
T |
A |
5: 63,804,460 (GRCm38) |
D462E |
probably benign |
Het |
| Olfr332 |
T |
C |
11: 58,490,087 (GRCm38) |
T223A |
probably benign |
Het |
| Plec |
T |
C |
15: 76,181,067 (GRCm38) |
E1466G |
unknown |
Het |
| Prl3d2 |
G |
T |
13: 27,122,396 (GRCm38) |
M35I |
probably benign |
Het |
| Reln |
T |
A |
5: 22,152,463 (GRCm38) |
I202F |
probably benign |
Het |
| Rhot1 |
T |
A |
11: 80,225,602 (GRCm38) |
D78E |
probably benign |
Het |
| Rsph3b |
T |
C |
17: 6,905,129 (GRCm38) |
|
probably null |
Het |
| Scn10a |
C |
T |
9: 119,609,651 (GRCm38) |
M1717I |
probably damaging |
Het |
| Sema6a |
T |
A |
18: 47,249,296 (GRCm38) |
H728L |
possibly damaging |
Het |
| Slc26a3 |
G |
T |
12: 31,457,080 (GRCm38) |
A345S |
possibly damaging |
Het |
| Slc35d2 |
A |
G |
13: 64,099,283 (GRCm38) |
V261A |
possibly damaging |
Het |
| Ssmem1 |
A |
G |
6: 30,519,514 (GRCm38) |
D66G |
probably damaging |
Het |
| Sult2a8 |
A |
T |
7: 14,425,477 (GRCm38) |
N72K |
probably benign |
Het |
| Tbx10 |
T |
C |
19: 3,996,921 (GRCm38) |
L108P |
probably damaging |
Het |
| Tex14 |
T |
C |
11: 87,536,865 (GRCm38) |
S48P |
probably damaging |
Het |
| Tmie |
A |
G |
9: 110,867,528 (GRCm38) |
L95P |
probably damaging |
Het |
| Tom1l2 |
C |
G |
11: 60,270,433 (GRCm38) |
R84P |
probably damaging |
Het |
| Trpm3 |
T |
A |
19: 22,889,435 (GRCm38) |
D543E |
possibly damaging |
Het |
| Vipr2 |
A |
C |
12: 116,080,131 (GRCm38) |
R49S |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,442,439 (GRCm38) |
S110C |
probably damaging |
Het |
| Zfp791 |
T |
A |
8: 85,110,968 (GRCm38) |
N89I |
probably damaging |
Het |
|
| Other mutations in Ncoa4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01583:Ncoa4
|
APN |
14 |
32,172,927 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL02963:Ncoa4
|
APN |
14 |
32,176,509 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03062:Ncoa4
|
APN |
14 |
32,173,420 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R0613:Ncoa4
|
UTSW |
14 |
32,176,552 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1353:Ncoa4
|
UTSW |
14 |
32,170,858 (GRCm38) |
nonsense |
probably null |
|
|
R1395:Ncoa4
|
UTSW |
14 |
32,172,841 (GRCm38) |
splice site |
probably null |
|
|
R1430:Ncoa4
|
UTSW |
14 |
32,176,722 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1509:Ncoa4
|
UTSW |
14 |
32,173,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1541:Ncoa4
|
UTSW |
14 |
32,176,888 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2292:Ncoa4
|
UTSW |
14 |
32,173,456 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4610:Ncoa4
|
UTSW |
14 |
32,176,725 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5750:Ncoa4
|
UTSW |
14 |
32,177,307 (GRCm38) |
nonsense |
probably null |
|
|
R5889:Ncoa4
|
UTSW |
14 |
32,166,659 (GRCm38) |
unclassified |
probably benign |
|
|
R5928:Ncoa4
|
UTSW |
14 |
32,166,721 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6738:Ncoa4
|
UTSW |
14 |
32,170,793 (GRCm38) |
missense |
probably benign |
|
|
R7065:Ncoa4
|
UTSW |
14 |
32,172,900 (GRCm38) |
nonsense |
probably null |
|
|
R7165:Ncoa4
|
UTSW |
14 |
32,175,983 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7257:Ncoa4
|
UTSW |
14 |
32,177,369 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8373:Ncoa4
|
UTSW |
14 |
32,176,936 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8919:Ncoa4
|
UTSW |
14 |
32,172,891 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9654:Ncoa4
|
UTSW |
14 |
32,174,508 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCCCAGAACCATCAGGAC -3'
(R):5'- AAGCATCTCTTTGCCAGCTC -3'
Sequencing Primer
(F):5'- AGAACCATCAGGACACATGG -3'
(R):5'- CTCTCCTCTGTATTAGGCACG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation