Incidental Mutation 'R7861:Ncoa7'
ID |
607528 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ncoa7
|
Ensembl Gene |
ENSMUSG00000039697 |
Gene Name |
nuclear receptor coactivator 7 |
Synonyms |
9030406N13Rik |
MMRRC Submission |
045914-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7861 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
30521578-30683401 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 30567056 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 541
(S541P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149335
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068567]
[ENSMUST00000213836]
[ENSMUST00000215725]
[ENSMUST00000215740]
[ENSMUST00000215926]
|
AlphaFold |
Q6DFV7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068567
AA Change: S541P
PolyPhen 2
Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000066741 Gene: ENSMUSG00000039697 AA Change: S541P
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
32 |
N/A |
INTRINSIC |
LysM
|
118 |
161 |
2.24e-7 |
SMART |
low complexity region
|
165 |
176 |
N/A |
INTRINSIC |
TLDc
|
781 |
943 |
2.86e-64 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213836
AA Change: S530P
PolyPhen 2
Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215725
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215740
AA Change: S541P
PolyPhen 2
Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215926
AA Change: S492P
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217398
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(108) : Gene trapped(108) |
Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700016H13Rik |
T |
A |
5: 103,797,360 (GRCm39) |
I50F |
possibly damaging |
Het |
Abcc3 |
T |
C |
11: 94,248,075 (GRCm39) |
D1175G |
probably null |
Het |
Accs |
C |
A |
2: 93,666,077 (GRCm39) |
*503L |
probably null |
Het |
Adgra2 |
A |
G |
8: 27,604,485 (GRCm39) |
E520G |
probably damaging |
Het |
Aldh7a1 |
C |
A |
18: 56,681,525 (GRCm39) |
C215F |
probably benign |
Het |
Apbb1ip |
A |
C |
2: 22,706,990 (GRCm39) |
D9A |
unknown |
Het |
Atad2 |
G |
A |
15: 57,989,176 (GRCm39) |
A228V |
probably benign |
Het |
Atp10a |
T |
C |
7: 58,438,107 (GRCm39) |
S430P |
probably damaging |
Het |
Atp1a3 |
T |
C |
7: 24,700,573 (GRCm39) |
D6G |
unknown |
Het |
Brca1 |
A |
T |
11: 101,417,248 (GRCm39) |
N295K |
possibly damaging |
Het |
Caly |
C |
A |
7: 139,661,301 (GRCm39) |
|
probably benign |
Het |
Ces1h |
A |
G |
8: 94,084,053 (GRCm39) |
Y386H |
unknown |
Het |
Col14a1 |
A |
G |
15: 55,308,012 (GRCm39) |
D1044G |
unknown |
Het |
Csf2rb |
A |
G |
15: 78,233,357 (GRCm39) |
D888G |
probably damaging |
Het |
Cux1 |
T |
C |
5: 136,281,458 (GRCm39) |
E568G |
possibly damaging |
Het |
Dhrs7b |
T |
A |
11: 60,746,568 (GRCm39) |
L219Q |
probably damaging |
Het |
Dlg5 |
G |
A |
14: 24,295,280 (GRCm39) |
P80L |
probably damaging |
Het |
Dnah14 |
C |
T |
1: 181,444,324 (GRCm39) |
P545S |
probably damaging |
Het |
Dnajc24 |
A |
T |
2: 105,832,380 (GRCm39) |
M1K |
probably null |
Het |
Dusp12 |
C |
T |
1: 170,702,095 (GRCm39) |
W301* |
probably null |
Het |
Dyrk1a |
G |
T |
16: 94,492,575 (GRCm39) |
G603* |
probably null |
Het |
Eif4g1 |
T |
A |
16: 20,498,452 (GRCm39) |
V403E |
probably benign |
Het |
Epn3 |
T |
C |
11: 94,387,100 (GRCm39) |
E90G |
probably damaging |
Het |
Etl4 |
A |
G |
2: 20,810,721 (GRCm39) |
S1303G |
probably benign |
Het |
Evpl |
A |
T |
11: 116,118,895 (GRCm39) |
Y627N |
probably damaging |
Het |
Fbxw25 |
A |
T |
9: 109,493,625 (GRCm39) |
L22* |
probably null |
Het |
Fcamr |
T |
A |
1: 130,742,375 (GRCm39) |
N587K |
probably benign |
Het |
Fgd6 |
A |
G |
10: 93,939,193 (GRCm39) |
N946S |
probably benign |
Het |
Fndc3b |
A |
T |
3: 27,523,148 (GRCm39) |
I477N |
possibly damaging |
Het |
Grifin |
C |
T |
5: 140,550,280 (GRCm39) |
A54T |
probably benign |
Het |
Gtf2b |
A |
G |
3: 142,487,105 (GRCm39) |
I180M |
probably damaging |
Het |
Invs |
A |
T |
4: 48,397,559 (GRCm39) |
D378V |
possibly damaging |
Het |
Itgb6 |
T |
C |
2: 60,458,788 (GRCm39) |
E378G |
probably damaging |
Het |
Khdc1a |
T |
C |
1: 21,420,623 (GRCm39) |
I81T |
possibly damaging |
Het |
Kif20b |
T |
A |
19: 34,917,322 (GRCm39) |
D617E |
probably damaging |
Het |
Kifc3 |
T |
A |
8: 95,834,165 (GRCm39) |
|
probably null |
Het |
Kirrel3 |
C |
T |
9: 34,931,419 (GRCm39) |
H403Y |
possibly damaging |
Het |
Klf15 |
G |
A |
6: 90,443,820 (GRCm39) |
V132I |
probably benign |
Het |
Kmt2a |
A |
G |
9: 44,730,031 (GRCm39) |
S3429P |
unknown |
Het |
Lama1 |
T |
G |
17: 68,116,216 (GRCm39) |
L2361R |
|
Het |
Lrp1b |
T |
C |
2: 40,587,570 (GRCm39) |
D3895G |
|
Het |
Mcoln3 |
A |
C |
3: 145,830,546 (GRCm39) |
E92A |
possibly damaging |
Het |
Myo3b |
T |
C |
2: 69,939,032 (GRCm39) |
M135T |
probably damaging |
Het |
Mysm1 |
A |
G |
4: 94,835,204 (GRCm39) |
*820Q |
probably null |
Het |
Nup54 |
T |
C |
5: 92,578,952 (GRCm39) |
T33A |
unknown |
Het |
Or10al2 |
C |
A |
17: 37,983,408 (GRCm39) |
Q165K |
possibly damaging |
Het |
Or13a17 |
T |
G |
7: 140,271,484 (GRCm39) |
I222S |
probably damaging |
Het |
Or1s2 |
T |
C |
19: 13,758,810 (GRCm39) |
V276A |
possibly damaging |
Het |
Or4k42 |
T |
A |
2: 111,320,369 (GRCm39) |
I45F |
probably damaging |
Het |
Or51a5 |
T |
A |
7: 102,771,899 (GRCm39) |
I27F |
probably benign |
Het |
Otud6b |
A |
G |
4: 14,826,414 (GRCm39) |
C18R |
probably benign |
Het |
Pde4d |
A |
G |
13: 110,071,858 (GRCm39) |
E284G |
probably damaging |
Het |
Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm39) |
|
probably benign |
Het |
Pidd1 |
C |
A |
7: 141,020,055 (GRCm39) |
W598L |
probably damaging |
Het |
Pira2 |
A |
T |
7: 3,847,543 (GRCm39) |
C49S |
probably damaging |
Het |
Pramel11 |
T |
C |
4: 143,624,288 (GRCm39) |
M70V |
possibly damaging |
Het |
Prdx1 |
T |
G |
4: 116,550,935 (GRCm39) |
D135E |
probably benign |
Het |
Rab15 |
T |
A |
12: 76,849,903 (GRCm39) |
Y88F |
probably damaging |
Het |
Rem2 |
C |
A |
14: 54,715,256 (GRCm39) |
H144Q |
probably damaging |
Het |
Sel1l3 |
T |
C |
5: 53,301,406 (GRCm39) |
D737G |
probably damaging |
Het |
Srd5a3 |
C |
T |
5: 76,295,666 (GRCm39) |
Q119* |
probably null |
Het |
Suclg2 |
G |
T |
6: 95,571,703 (GRCm39) |
Q120K |
probably benign |
Het |
Tacc2 |
T |
A |
7: 130,227,161 (GRCm39) |
M1282K |
probably benign |
Het |
Tbc1d5 |
T |
A |
17: 51,063,720 (GRCm39) |
Q620L |
probably damaging |
Het |
Tdrd3 |
G |
T |
14: 87,709,590 (GRCm39) |
A91S |
probably damaging |
Het |
Thsd7b |
T |
A |
1: 130,087,435 (GRCm39) |
F1184Y |
probably benign |
Het |
Trim28 |
T |
A |
7: 12,762,339 (GRCm39) |
V321E |
possibly damaging |
Het |
Trim5 |
C |
A |
7: 103,915,675 (GRCm39) |
|
probably null |
Het |
Ugt2b37 |
A |
T |
5: 87,390,299 (GRCm39) |
Y382* |
probably null |
Het |
Usp40 |
C |
T |
1: 87,909,852 (GRCm39) |
G534D |
probably damaging |
Het |
Usp53 |
A |
T |
3: 122,728,112 (GRCm39) |
H823Q |
probably benign |
Het |
Vmn2r12 |
T |
A |
5: 109,235,829 (GRCm39) |
M508L |
probably benign |
Het |
Vmn2r56 |
T |
A |
7: 12,449,351 (GRCm39) |
I296F |
probably benign |
Het |
Vps13a |
T |
C |
19: 16,632,668 (GRCm39) |
S2563G |
probably damaging |
Het |
Wdr59 |
A |
G |
8: 112,220,912 (GRCm39) |
F207L |
|
Het |
Zan |
A |
G |
5: 137,405,295 (GRCm39) |
S3777P |
unknown |
Het |
Zfp277 |
T |
C |
12: 40,365,880 (GRCm39) |
N530D |
possibly damaging |
Het |
Zfp365 |
G |
A |
10: 67,745,749 (GRCm39) |
R10W |
probably damaging |
Het |
Zfp384 |
A |
T |
6: 125,013,288 (GRCm39) |
H452L |
probably damaging |
Het |
Zftraf1 |
C |
T |
15: 76,532,386 (GRCm39) |
D241N |
probably benign |
Het |
Zfyve28 |
A |
T |
5: 34,374,487 (GRCm39) |
L509Q |
probably damaging |
Het |
|
Other mutations in Ncoa7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01406:Ncoa7
|
APN |
10 |
30,566,836 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01716:Ncoa7
|
APN |
10 |
30,538,330 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02114:Ncoa7
|
APN |
10 |
30,538,360 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02170:Ncoa7
|
APN |
10 |
30,565,849 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02436:Ncoa7
|
APN |
10 |
30,570,143 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02499:Ncoa7
|
APN |
10 |
30,566,885 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02533:Ncoa7
|
APN |
10 |
30,598,781 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02533:Ncoa7
|
APN |
10 |
30,566,895 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL02590:Ncoa7
|
APN |
10 |
30,570,159 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02657:Ncoa7
|
APN |
10 |
30,528,972 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03065:Ncoa7
|
APN |
10 |
30,523,993 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03088:Ncoa7
|
APN |
10 |
30,574,121 (GRCm39) |
splice site |
probably null |
|
IGL03090:Ncoa7
|
APN |
10 |
30,538,396 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03196:Ncoa7
|
APN |
10 |
30,523,510 (GRCm39) |
utr 3 prime |
probably benign |
|
D6062:Ncoa7
|
UTSW |
10 |
30,598,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R0058:Ncoa7
|
UTSW |
10 |
30,523,537 (GRCm39) |
missense |
probably damaging |
1.00 |
R0058:Ncoa7
|
UTSW |
10 |
30,523,537 (GRCm39) |
missense |
probably damaging |
1.00 |
R0578:Ncoa7
|
UTSW |
10 |
30,577,913 (GRCm39) |
critical splice donor site |
probably null |
|
R0729:Ncoa7
|
UTSW |
10 |
30,567,575 (GRCm39) |
missense |
probably benign |
0.00 |
R1538:Ncoa7
|
UTSW |
10 |
30,570,207 (GRCm39) |
missense |
probably damaging |
0.99 |
R1539:Ncoa7
|
UTSW |
10 |
30,647,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R1574:Ncoa7
|
UTSW |
10 |
30,570,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R1574:Ncoa7
|
UTSW |
10 |
30,570,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R1624:Ncoa7
|
UTSW |
10 |
30,580,655 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1639:Ncoa7
|
UTSW |
10 |
30,577,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R1655:Ncoa7
|
UTSW |
10 |
30,574,241 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1876:Ncoa7
|
UTSW |
10 |
30,574,122 (GRCm39) |
intron |
probably benign |
|
R1885:Ncoa7
|
UTSW |
10 |
30,524,448 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1886:Ncoa7
|
UTSW |
10 |
30,524,448 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1887:Ncoa7
|
UTSW |
10 |
30,524,448 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1909:Ncoa7
|
UTSW |
10 |
30,565,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R1938:Ncoa7
|
UTSW |
10 |
30,574,166 (GRCm39) |
missense |
probably benign |
0.02 |
R1965:Ncoa7
|
UTSW |
10 |
30,530,426 (GRCm39) |
nonsense |
probably null |
|
R1978:Ncoa7
|
UTSW |
10 |
30,567,295 (GRCm39) |
missense |
probably benign |
|
R2303:Ncoa7
|
UTSW |
10 |
30,530,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R3777:Ncoa7
|
UTSW |
10 |
30,565,752 (GRCm39) |
missense |
probably damaging |
1.00 |
R3778:Ncoa7
|
UTSW |
10 |
30,565,752 (GRCm39) |
missense |
probably damaging |
1.00 |
R4026:Ncoa7
|
UTSW |
10 |
30,598,720 (GRCm39) |
missense |
probably benign |
0.02 |
R4230:Ncoa7
|
UTSW |
10 |
30,574,253 (GRCm39) |
splice site |
probably null |
|
R4667:Ncoa7
|
UTSW |
10 |
30,566,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R4786:Ncoa7
|
UTSW |
10 |
30,531,638 (GRCm39) |
missense |
probably benign |
0.28 |
R4809:Ncoa7
|
UTSW |
10 |
30,647,758 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4820:Ncoa7
|
UTSW |
10 |
30,524,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R4839:Ncoa7
|
UTSW |
10 |
30,598,655 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4861:Ncoa7
|
UTSW |
10 |
30,580,608 (GRCm39) |
missense |
probably benign |
|
R4861:Ncoa7
|
UTSW |
10 |
30,580,608 (GRCm39) |
missense |
probably benign |
|
R5271:Ncoa7
|
UTSW |
10 |
30,598,725 (GRCm39) |
missense |
probably benign |
0.02 |
R5384:Ncoa7
|
UTSW |
10 |
30,598,813 (GRCm39) |
missense |
probably benign |
0.00 |
R5418:Ncoa7
|
UTSW |
10 |
30,524,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R5964:Ncoa7
|
UTSW |
10 |
30,580,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R6257:Ncoa7
|
UTSW |
10 |
30,570,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R6683:Ncoa7
|
UTSW |
10 |
30,647,717 (GRCm39) |
missense |
probably damaging |
0.99 |
R6813:Ncoa7
|
UTSW |
10 |
30,572,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R6910:Ncoa7
|
UTSW |
10 |
30,570,117 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7123:Ncoa7
|
UTSW |
10 |
30,530,435 (GRCm39) |
missense |
probably benign |
0.28 |
R7327:Ncoa7
|
UTSW |
10 |
30,565,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R7412:Ncoa7
|
UTSW |
10 |
30,598,847 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7638:Ncoa7
|
UTSW |
10 |
30,598,794 (GRCm39) |
missense |
probably benign |
0.35 |
R7653:Ncoa7
|
UTSW |
10 |
30,570,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R7848:Ncoa7
|
UTSW |
10 |
30,524,414 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8125:Ncoa7
|
UTSW |
10 |
30,570,087 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8198:Ncoa7
|
UTSW |
10 |
30,580,664 (GRCm39) |
missense |
probably benign |
0.00 |
R8240:Ncoa7
|
UTSW |
10 |
30,567,725 (GRCm39) |
missense |
probably benign |
0.45 |
R8353:Ncoa7
|
UTSW |
10 |
30,570,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R8509:Ncoa7
|
UTSW |
10 |
30,572,048 (GRCm39) |
missense |
probably benign |
0.00 |
R8861:Ncoa7
|
UTSW |
10 |
30,567,364 (GRCm39) |
missense |
probably benign |
0.02 |
R9040:Ncoa7
|
UTSW |
10 |
30,530,389 (GRCm39) |
missense |
probably benign |
0.00 |
R9136:Ncoa7
|
UTSW |
10 |
30,567,628 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGTTTCCTCTGCACTAGGATCTAG -3'
(R):5'- GTCAGCCCAGGAAGTTATGG -3'
Sequencing Primer
(F):5'- CTCTGCACTAGGATCTAGTTTCAGG -3'
(R):5'- GAGCCCTAGATCTAGAAACTGCTG -3'
|
Posted On |
2019-12-20 |