Incidental Mutation 'R7653:Ncoa7'
| ID |
580486 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncoa7
|
| Ensembl Gene |
ENSMUSG00000039697 |
| Gene Name |
nuclear receptor coactivator 7 |
| Synonyms |
9030406N13Rik |
| MMRRC Submission |
045730-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7653 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
30521578-30683401 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 30570239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 240
(G240E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068567]
[ENSMUST00000213836]
[ENSMUST00000215725]
[ENSMUST00000215740]
[ENSMUST00000215926]
|
| AlphaFold |
Q6DFV7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068567
AA Change: G240E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000066741
Gene: ENSMUSG00000039697
AA Change: G240E
| 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 |
probably damaging
Transcript: ENSMUST00000213836
AA Change: G240E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215725
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215740
AA Change: G240E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215926
AA Change: G202E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217398
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(108) : Gene trapped(108) |
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
A |
T |
6: 92,805,050 (GRCm39) |
Q70L |
unknown |
Het |
| Adamts12 |
T |
A |
15: 11,257,115 (GRCm39) |
N489K |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,597,577 (GRCm39) |
D801G |
possibly damaging |
Het |
| Apex1 |
T |
G |
14: 51,163,995 (GRCm39) |
N173K |
probably damaging |
Het |
| Arhgap32 |
A |
T |
9: 32,168,441 (GRCm39) |
N808I |
probably benign |
Het |
| Arhgef28 |
T |
C |
13: 98,105,821 (GRCm39) |
Y706C |
probably benign |
Het |
| Atg2b |
A |
T |
12: 105,602,731 (GRCm39) |
F1604Y |
possibly damaging |
Het |
| Atm |
A |
T |
9: 53,401,602 (GRCm39) |
Y1422* |
probably null |
Het |
| Bace2 |
T |
A |
16: 97,237,852 (GRCm39) |
V38E |
|
Het |
| Birc6 |
C |
A |
17: 74,954,729 (GRCm39) |
L3442I |
possibly damaging |
Het |
| C6 |
T |
A |
15: 4,844,244 (GRCm39) |
S889T |
|
Het |
| Calcrl |
A |
T |
2: 84,175,529 (GRCm39) |
L275* |
probably null |
Het |
| Casp6 |
T |
C |
3: 129,705,872 (GRCm39) |
Y180H |
probably benign |
Het |
| Cd5 |
T |
C |
19: 10,703,910 (GRCm39) |
M51V |
probably benign |
Het |
| Cdhr1 |
G |
T |
14: 36,804,158 (GRCm39) |
P500Q |
probably benign |
Het |
| Celsr3 |
G |
A |
9: 108,712,269 (GRCm39) |
W1732* |
probably null |
Het |
| Ces2g |
T |
C |
8: 105,689,285 (GRCm39) |
V87A |
probably damaging |
Het |
| Chil6 |
T |
C |
3: 106,301,641 (GRCm39) |
N153S |
possibly damaging |
Het |
| Chrna5 |
A |
T |
9: 54,909,718 (GRCm39) |
D113V |
probably benign |
Het |
| Cimip2b |
T |
G |
4: 43,427,273 (GRCm39) |
|
probably null |
Het |
| Cox20 |
A |
G |
1: 178,150,164 (GRCm39) |
T113A |
probably benign |
Het |
| Cryl1 |
T |
C |
14: 57,541,148 (GRCm39) |
I179V |
probably benign |
Het |
| Dennd3 |
A |
G |
15: 73,434,275 (GRCm39) |
T982A |
probably damaging |
Het |
| Drosha |
G |
A |
15: 12,859,522 (GRCm39) |
V577I |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,117,570 (GRCm39) |
S2240P |
probably benign |
Het |
| Eif1ad14 |
T |
A |
12: 87,886,248 (GRCm39) |
D127V |
unknown |
Het |
| Fbxl5 |
C |
T |
5: 43,916,116 (GRCm39) |
S432N |
probably benign |
Het |
| Fez1 |
T |
A |
9: 36,772,146 (GRCm39) |
S150R |
probably benign |
Het |
| Gabrb2 |
T |
G |
11: 42,378,039 (GRCm39) |
M85R |
probably damaging |
Het |
| Lhx4 |
A |
G |
1: 155,580,617 (GRCm39) |
V203A |
probably damaging |
Het |
| Med23 |
G |
A |
10: 24,780,282 (GRCm39) |
D977N |
probably damaging |
Het |
| Mplkip |
T |
C |
13: 17,870,367 (GRCm39) |
F100L |
probably damaging |
Het |
| Nedd4 |
A |
G |
9: 72,650,910 (GRCm39) |
E827G |
probably damaging |
Het |
| Nfatc2 |
A |
G |
2: 168,413,065 (GRCm39) |
F207L |
probably benign |
Het |
| Nr2f1 |
A |
T |
13: 78,343,716 (GRCm39) |
S183T |
probably benign |
Het |
| Ocel1 |
A |
G |
8: 71,824,560 (GRCm39) |
E81G |
probably benign |
Het |
| Or10aa3 |
T |
C |
1: 173,878,488 (GRCm39) |
V183A |
probably benign |
Het |
| Or10g3b |
C |
A |
14: 52,586,889 (GRCm39) |
G205* |
probably null |
Het |
| Or4n4b |
C |
T |
14: 50,536,604 (GRCm39) |
G54E |
possibly damaging |
Het |
| Pcdh8 |
G |
A |
14: 80,005,086 (GRCm39) |
P980S |
probably benign |
Het |
| Pex26 |
A |
T |
6: 121,170,510 (GRCm39) |
Q285L |
possibly damaging |
Het |
| Pgap6 |
T |
A |
17: 26,339,423 (GRCm39) |
M579K |
probably damaging |
Het |
| Plce1 |
A |
T |
19: 38,737,763 (GRCm39) |
N1603I |
probably benign |
Het |
| Poli |
A |
T |
18: 70,642,698 (GRCm39) |
C501S |
probably benign |
Het |
| Ppp4r4 |
C |
T |
12: 103,550,404 (GRCm39) |
T276I |
probably damaging |
Het |
| Rbpj |
T |
A |
5: 53,747,693 (GRCm39) |
M1K |
probably null |
Het |
| Recql4 |
T |
A |
15: 76,587,982 (GRCm39) |
M1204L |
probably benign |
Het |
| Ribc2 |
T |
C |
15: 85,025,876 (GRCm39) |
I284T |
probably benign |
Het |
| Rreb1 |
C |
A |
13: 38,114,362 (GRCm39) |
Q574K |
probably benign |
Het |
| Scn9a |
A |
T |
2: 66,357,424 (GRCm39) |
L959Q |
probably damaging |
Het |
| Shank1 |
C |
A |
7: 43,969,093 (GRCm39) |
H329Q |
unknown |
Het |
| Soat2 |
A |
T |
15: 102,071,013 (GRCm39) |
D469V |
probably damaging |
Het |
| Spag7 |
T |
A |
11: 70,555,691 (GRCm39) |
H82L |
probably damaging |
Het |
| Sptb |
T |
C |
12: 76,675,271 (GRCm39) |
I248V |
probably benign |
Het |
| Tacr3 |
A |
G |
3: 134,566,843 (GRCm39) |
I239V |
probably benign |
Het |
| Tbc1d1 |
T |
C |
5: 64,414,133 (GRCm39) |
F165L |
probably benign |
Het |
| Tchhl1 |
A |
G |
3: 93,378,451 (GRCm39) |
E385G |
probably benign |
Het |
| Tecta |
C |
T |
9: 42,248,532 (GRCm39) |
D1957N |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,938,174 (GRCm39) |
I1501V |
probably benign |
Het |
| Tet2 |
G |
T |
3: 133,192,146 (GRCm39) |
Q763K |
probably benign |
Het |
| Timd6 |
A |
C |
11: 46,475,200 (GRCm39) |
S132R |
probably benign |
Het |
| Tox3 |
G |
A |
8: 90,975,617 (GRCm39) |
T338I |
probably damaging |
Het |
| Usp30 |
G |
A |
5: 114,259,730 (GRCm39) |
D479N |
probably damaging |
Het |
| Vmn1r27 |
T |
C |
6: 58,192,785 (GRCm39) |
D73G |
possibly damaging |
Het |
| Vmn1r27 |
A |
T |
6: 58,192,879 (GRCm39) |
S42T |
probably benign |
Het |
| Vmn2r120 |
A |
T |
17: 57,816,258 (GRCm39) |
V699D |
possibly damaging |
Het |
| Vwa2 |
A |
T |
19: 56,897,767 (GRCm39) |
T691S |
probably benign |
Het |
| Wdr31 |
T |
A |
4: 62,381,666 (GRCm39) |
Q55L |
probably benign |
Het |
| Xdh |
A |
G |
17: 74,204,040 (GRCm39) |
F1107L |
probably benign |
Het |
| Zfp184 |
A |
G |
13: 22,143,887 (GRCm39) |
H531R |
probably damaging |
Het |
| Zfp366 |
T |
C |
13: 99,365,709 (GRCm39) |
L290P |
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 |
|
R7848:Ncoa7
|
UTSW |
10 |
30,524,414 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7861:Ncoa7
|
UTSW |
10 |
30,567,056 (GRCm39) |
missense |
probably benign |
0.38 |
|
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'- ACGATGGCAAGGCGTCTTTG -3'
(R):5'- TACAGTCTTCCAGTTGCAGC -3'
Sequencing Primer
(F):5'- CAAGGCGTCTTTGATCTTCATG -3'
(R):5'- TATGAGCAACCAGGAGCTGCC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation