Incidental Mutation 'R9654:Ncoa4'
| ID |
727284 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncoa4
|
| Ensembl Gene |
ENSMUSG00000056234 |
| Gene Name |
nuclear receptor coactivator 4 |
| Synonyms |
4432406M01Rik, 1110034E15Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R9654 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
31881884-31901210 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 31896465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 230
(P230Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107625
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111994]
[ENSMUST00000163336]
[ENSMUST00000164341]
[ENSMUST00000168034]
[ENSMUST00000168114]
[ENSMUST00000168334]
[ENSMUST00000168385]
[ENSMUST00000169722]
[ENSMUST00000226479]
|
| AlphaFold |
Q5U4H9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111994
AA Change: P230Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107625
Gene: ENSMUSG00000056234
AA Change: P230Q
| 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: P230Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000126071
Gene: ENSMUSG00000056234
AA Change: P230Q
| 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: 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 |
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
AA Change: P135Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000126222
Gene: ENSMUSG00000056234
AA Change: P135Q
| 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
AA Change: P229Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000129917
Gene: ENSMUSG00000056234
AA Change: P229Q
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
C |
15: 81,948,916 (GRCm39) |
S938P |
possibly damaging |
Het |
| Abca17 |
G |
T |
17: 24,536,099 (GRCm39) |
H523N |
probably benign |
Het |
| Alx1 |
T |
A |
10: 102,858,093 (GRCm39) |
H202L |
probably benign |
Het |
| Amotl1 |
T |
A |
9: 14,462,981 (GRCm39) |
H744L |
probably benign |
Het |
| Ankrd50 |
A |
T |
3: 38,511,018 (GRCm39) |
S450T |
probably benign |
Het |
| Aoc1l1 |
T |
C |
6: 48,952,837 (GRCm39) |
L254P |
probably damaging |
Het |
| Arhgef25 |
C |
T |
10: 127,021,955 (GRCm39) |
S200N |
probably damaging |
Het |
| Arl4c |
G |
T |
1: 88,629,361 (GRCm39) |
S9* |
probably null |
Het |
| Bod1l |
A |
G |
5: 41,975,707 (GRCm39) |
M1869T |
probably benign |
Het |
| Btnl6 |
G |
A |
17: 34,733,140 (GRCm39) |
P241L |
probably damaging |
Het |
| Cacng8 |
C |
T |
7: 3,443,002 (GRCm39) |
R88W |
probably damaging |
Het |
| Ccdc154 |
C |
T |
17: 25,386,684 (GRCm39) |
T262I |
possibly damaging |
Het |
| Clmn |
C |
A |
12: 104,748,193 (GRCm39) |
E451D |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,593,904 (GRCm39) |
I3416L |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 117,927,156 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
T |
A |
7: 119,641,396 (GRCm39) |
K1175* |
probably null |
Het |
| Dock8 |
C |
T |
19: 25,124,710 (GRCm39) |
R1009W |
probably damaging |
Het |
| Fhip1a |
G |
T |
3: 85,579,532 (GRCm39) |
T891K |
probably damaging |
Het |
| Fkbp15 |
A |
G |
4: 62,230,553 (GRCm39) |
V720A |
probably benign |
Het |
| Fryl |
G |
T |
5: 73,275,801 (GRCm39) |
P121Q |
probably benign |
Het |
| H2-Q6 |
C |
T |
17: 35,644,185 (GRCm39) |
R56C |
probably damaging |
Het |
| Hbs1l |
T |
C |
10: 21,183,604 (GRCm39) |
V115A |
possibly damaging |
Het |
| Heatr5a |
G |
A |
12: 52,005,778 (GRCm39) |
P66S |
probably damaging |
Het |
| Hsd17b4 |
A |
G |
18: 50,272,533 (GRCm39) |
D44G |
probably benign |
Het |
| Idh3a |
T |
C |
9: 54,497,182 (GRCm39) |
V41A |
probably benign |
Het |
| Itih1 |
T |
A |
14: 30,664,870 (GRCm39) |
K37M |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,101,266 (GRCm39) |
T1920A |
|
Het |
| Ltn1 |
G |
C |
16: 87,207,227 (GRCm39) |
D904E |
probably benign |
Het |
| Map6 |
T |
C |
7: 98,986,166 (GRCm39) |
I893T |
probably damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mr1 |
T |
C |
1: 155,013,430 (GRCm39) |
H49R |
possibly damaging |
Het |
| Myh2 |
T |
C |
11: 67,088,171 (GRCm39) |
V1929A |
probably benign |
Het |
| Npy4r |
T |
A |
14: 33,869,081 (GRCm39) |
Q69L |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
| Nus1 |
T |
G |
10: 52,294,130 (GRCm39) |
L98R |
possibly damaging |
Het |
| Or10ag55-ps1 |
C |
T |
2: 87,115,071 (GRCm39) |
L146F |
probably benign |
Het |
| Or14c42-ps1 |
T |
A |
7: 86,210,950 (GRCm39) |
N3K |
unknown |
Het |
| Or2w4 |
T |
C |
13: 21,795,915 (GRCm39) |
T75A |
possibly damaging |
Het |
| Or4c11b |
T |
C |
2: 88,625,263 (GRCm39) |
L179S |
probably damaging |
Het |
| Or5k17 |
T |
A |
16: 58,746,752 (GRCm39) |
I61F |
probably benign |
Het |
| Pcdha11 |
A |
C |
18: 37,145,333 (GRCm39) |
T475P |
probably damaging |
Het |
| Pex5l |
C |
A |
3: 33,010,827 (GRCm39) |
A384S |
probably benign |
Het |
| Pgk2 |
T |
A |
17: 40,518,651 (GRCm39) |
D259V |
probably damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,166,028 (GRCm39) |
M52V |
probably benign |
Het |
| Rsph6a |
T |
A |
7: 18,799,332 (GRCm39) |
L321Q |
probably damaging |
Het |
| Sugp1 |
T |
A |
8: 70,522,656 (GRCm39) |
M452K |
probably damaging |
Het |
| Sult2a6 |
T |
G |
7: 13,956,445 (GRCm39) |
D272A |
probably benign |
Het |
| Tlr6 |
A |
T |
5: 65,112,697 (GRCm39) |
L70Q |
probably damaging |
Het |
| Tmem178b |
A |
T |
6: 40,222,534 (GRCm39) |
Y83F |
probably benign |
Het |
| Tmprss4 |
C |
T |
9: 45,090,700 (GRCm39) |
|
probably null |
Het |
| Trpv4 |
A |
G |
5: 114,764,887 (GRCm39) |
L709P |
probably benign |
Het |
| Utp15 |
G |
A |
13: 98,385,668 (GRCm39) |
T519M |
probably benign |
Het |
| Vmn2r59 |
T |
C |
7: 41,693,217 (GRCm39) |
N461S |
probably benign |
Het |
| Zap70 |
T |
C |
1: 36,818,327 (GRCm39) |
V338A |
probably benign |
Het |
|
| Other mutations in Ncoa4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01583:Ncoa4
|
APN |
14 |
31,894,884 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02963:Ncoa4
|
APN |
14 |
31,898,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03062:Ncoa4
|
APN |
14 |
31,895,377 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0613:Ncoa4
|
UTSW |
14 |
31,898,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1353:Ncoa4
|
UTSW |
14 |
31,892,815 (GRCm39) |
nonsense |
probably null |
|
|
R1395:Ncoa4
|
UTSW |
14 |
31,894,798 (GRCm39) |
splice site |
probably null |
|
|
R1430:Ncoa4
|
UTSW |
14 |
31,898,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1509:Ncoa4
|
UTSW |
14 |
31,895,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1541:Ncoa4
|
UTSW |
14 |
31,898,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2292:Ncoa4
|
UTSW |
14 |
31,895,413 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4610:Ncoa4
|
UTSW |
14 |
31,898,682 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4713:Ncoa4
|
UTSW |
14 |
31,898,598 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5750:Ncoa4
|
UTSW |
14 |
31,899,264 (GRCm39) |
nonsense |
probably null |
|
|
R5889:Ncoa4
|
UTSW |
14 |
31,888,616 (GRCm39) |
unclassified |
probably benign |
|
|
R5928:Ncoa4
|
UTSW |
14 |
31,888,678 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6738:Ncoa4
|
UTSW |
14 |
31,892,750 (GRCm39) |
missense |
probably benign |
|
|
R7065:Ncoa4
|
UTSW |
14 |
31,894,857 (GRCm39) |
nonsense |
probably null |
|
|
R7165:Ncoa4
|
UTSW |
14 |
31,897,940 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7257:Ncoa4
|
UTSW |
14 |
31,899,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8373:Ncoa4
|
UTSW |
14 |
31,898,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8919:Ncoa4
|
UTSW |
14 |
31,894,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCTAGGTTAGAGTGCTTGGG -3'
(R):5'- CCATGTATACACAGCTTGAGTGAC -3'
Sequencing Primer
(F):5'- CTTGGGTTCCTGTTTCTGCTAAG -3'
(R):5'- AAGGGCATTGGATCCCAAC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation