Incidental Mutation 'R9136:Ncoa7'
ID |
694032 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ncoa7
|
Ensembl Gene |
ENSMUSG00000039697 |
Gene Name |
nuclear receptor coactivator 7 |
Synonyms |
9030406N13Rik |
MMRRC Submission |
068931-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9136 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
30521578-30683401 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 30567628 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 350
(S350L)
|
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: S350L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000066741 Gene: ENSMUSG00000039697 AA Change: S350L
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215725
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215740
AA Change: S350L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215926
AA Change: S301L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217398
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (71/71) |
Allele List at MGI |
All alleles(108) : Gene trapped(108) |
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
A |
G |
17: 24,596,807 (GRCm39) |
Q420R |
probably benign |
Het |
Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
Acsl5 |
A |
T |
19: 55,266,400 (GRCm39) |
K109N |
probably benign |
Het |
Agpat3 |
T |
C |
10: 78,120,893 (GRCm39) |
N95S |
probably damaging |
Het |
Akna |
C |
T |
4: 63,310,392 (GRCm39) |
D451N |
probably damaging |
Het |
Ankrd17 |
A |
T |
5: 90,392,278 (GRCm39) |
D1797E |
probably damaging |
Het |
Ano2 |
A |
G |
6: 125,959,962 (GRCm39) |
N691S |
probably damaging |
Het |
Arrdc1 |
A |
T |
2: 24,817,193 (GRCm39) |
|
probably benign |
Het |
Ccdc63 |
G |
A |
5: 122,259,146 (GRCm39) |
R251W |
probably damaging |
Het |
Cd70 |
T |
C |
17: 57,453,152 (GRCm39) |
T171A |
possibly damaging |
Het |
Cenpf |
A |
T |
1: 189,403,352 (GRCm39) |
S382T |
probably benign |
Het |
Cox5b-ps |
A |
C |
13: 21,685,587 (GRCm39) |
M1R |
probably null |
Het |
Ddx19b |
G |
T |
8: 111,734,906 (GRCm39) |
D487E |
probably benign |
Het |
Dlgap4 |
G |
A |
2: 156,588,075 (GRCm39) |
E640K |
possibly damaging |
Het |
Dtnbp1 |
A |
T |
13: 45,084,546 (GRCm39) |
F198Y |
possibly damaging |
Het |
Epha10 |
T |
C |
4: 124,796,427 (GRCm39) |
Y379H |
|
Het |
Eral1 |
A |
G |
11: 77,964,960 (GRCm39) |
I411T |
|
Het |
Exd1 |
C |
T |
2: 119,359,385 (GRCm39) |
G193E |
probably damaging |
Het |
Fat3 |
C |
A |
9: 15,833,738 (GRCm39) |
A105S |
|
Het |
Fbp2 |
C |
T |
13: 63,002,840 (GRCm39) |
V71M |
possibly damaging |
Het |
Gm10801 |
C |
CGTA |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
Grm5 |
G |
A |
7: 87,689,254 (GRCm39) |
V542I |
possibly damaging |
Het |
Hdc |
C |
T |
2: 126,439,786 (GRCm39) |
|
probably null |
Het |
Hspe1 |
G |
T |
1: 55,128,314 (GRCm39) |
K36N |
probably damaging |
Het |
Hypk |
T |
A |
2: 121,287,636 (GRCm39) |
L17* |
probably null |
Het |
Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
Immt |
C |
T |
6: 71,851,403 (GRCm39) |
T588I |
probably damaging |
Het |
Kat2b |
T |
A |
17: 53,936,364 (GRCm39) |
S179T |
probably benign |
Het |
Krtap19-5 |
C |
T |
16: 88,693,246 (GRCm39) |
G22D |
unknown |
Het |
Lipk |
A |
G |
19: 33,999,830 (GRCm39) |
D153G |
probably damaging |
Het |
Lnpep |
A |
G |
17: 17,750,090 (GRCm39) |
V1000A |
probably benign |
Het |
Map3k7cl |
T |
C |
16: 87,391,227 (GRCm39) |
L117P |
probably damaging |
Het |
Meikin |
A |
G |
11: 54,285,464 (GRCm39) |
E167G |
possibly damaging |
Het |
Miox |
A |
G |
15: 89,220,740 (GRCm39) |
Y215C |
probably damaging |
Het |
Mthfd1 |
T |
G |
12: 76,350,649 (GRCm39) |
M677R |
probably damaging |
Het |
Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
Nrg3 |
A |
T |
14: 38,119,262 (GRCm39) |
N403K |
possibly damaging |
Het |
Nup210 |
T |
C |
6: 91,020,830 (GRCm39) |
T955A |
possibly damaging |
Het |
Odf2l |
C |
A |
3: 144,851,698 (GRCm39) |
T82K |
|
Het |
Or10ag56 |
A |
G |
2: 87,139,219 (GRCm39) |
I49V |
possibly damaging |
Het |
Or1m1 |
T |
C |
9: 18,666,175 (GRCm39) |
Y252C |
probably damaging |
Het |
Or4c108 |
T |
A |
2: 88,804,113 (GRCm39) |
M41L |
probably benign |
Het |
Or8w1 |
A |
G |
2: 87,465,341 (GRCm39) |
V250A |
probably benign |
Het |
Otud7b |
T |
A |
3: 96,059,815 (GRCm39) |
|
probably benign |
Het |
Pcm1 |
C |
T |
8: 41,732,825 (GRCm39) |
S694L |
probably benign |
Het |
Pex11b |
T |
C |
3: 96,551,259 (GRCm39) |
L248P |
probably damaging |
Het |
Pira13 |
A |
T |
7: 3,826,285 (GRCm39) |
I236N |
|
Het |
Ppp3cb |
T |
C |
14: 20,581,867 (GRCm39) |
I49M |
probably benign |
Het |
Prorp |
C |
T |
12: 55,350,727 (GRCm39) |
P12L |
probably benign |
Het |
Prr14l |
A |
C |
5: 32,986,080 (GRCm39) |
C1138W |
|
Het |
Prss1 |
T |
G |
6: 41,438,280 (GRCm39) |
|
probably benign |
Het |
Psg22 |
T |
A |
7: 18,460,811 (GRCm39) |
I480K |
probably damaging |
Het |
Rgs21 |
A |
C |
1: 144,412,653 (GRCm39) |
F57C |
|
Het |
Rngtt |
T |
A |
4: 33,404,218 (GRCm39) |
D468E |
probably damaging |
Het |
Rorb |
A |
T |
19: 18,934,686 (GRCm39) |
V313E |
probably damaging |
Het |
Sdk2 |
A |
G |
11: 113,697,203 (GRCm39) |
F1736S |
probably damaging |
Het |
Sertad2 |
A |
T |
11: 20,598,425 (GRCm39) |
E207V |
probably benign |
Het |
Slitrk1 |
T |
C |
14: 109,148,981 (GRCm39) |
I577V |
|
Het |
Sos2 |
C |
A |
12: 69,633,446 (GRCm39) |
E1143D |
possibly damaging |
Het |
Spen |
T |
C |
4: 141,249,623 (GRCm39) |
D55G |
unknown |
Het |
Stoml1 |
C |
A |
9: 58,168,236 (GRCm39) |
Q316K |
possibly damaging |
Het |
Synpo2l |
C |
T |
14: 20,715,857 (GRCm39) |
A243T |
probably damaging |
Het |
Tenm4 |
A |
T |
7: 96,473,125 (GRCm39) |
I974F |
possibly damaging |
Het |
Trp53bp1 |
T |
A |
2: 121,067,092 (GRCm39) |
I545F |
possibly damaging |
Het |
Unc13a |
T |
C |
8: 72,104,994 (GRCm39) |
D756G |
possibly damaging |
Het |
Uqcrc1 |
A |
G |
9: 108,776,973 (GRCm39) |
N393D |
possibly damaging |
Het |
Vcl |
T |
A |
14: 21,057,344 (GRCm39) |
D505E |
probably benign |
Het |
Vwf |
A |
T |
6: 125,576,356 (GRCm39) |
|
probably benign |
Het |
Wdr11 |
A |
G |
7: 129,204,816 (GRCm39) |
H207R |
|
Het |
Zc3h7b |
A |
G |
15: 81,653,312 (GRCm39) |
D72G |
probably damaging |
Het |
Zfp507 |
A |
T |
7: 35,475,883 (GRCm39) |
D813E |
probably damaging |
Het |
Zfp704 |
T |
C |
3: 9,509,324 (GRCm39) |
S374G |
probably benign |
Het |
Zfp97 |
G |
A |
17: 17,365,215 (GRCm39) |
C238Y |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGATTCCACTCTCAGGTTGAG -3'
(R):5'- TTGCCCCTACAGTGACCTAC -3'
Sequencing Primer
(F):5'- GTTCTTCCAAGTCAACAAAGTCCTC -3'
(R):5'- TACAGTGACCTACCTCGGGATC -3'
|
Posted On |
2022-01-20 |