Incidental Mutation 'R5964:Ncoa7'
| ID |
471960 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncoa7
|
| Ensembl Gene |
ENSMUSG00000039697 |
| Gene Name |
nuclear receptor coactivator 7 |
| Synonyms |
9030406N13Rik |
| MMRRC Submission |
044149-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5964 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
30521578-30683401 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30580632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 35
(M35V)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068567]
[ENSMUST00000213836]
[ENSMUST00000215725]
[ENSMUST00000215740]
[ENSMUST00000215926]
|
| AlphaFold |
Q6DFV7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068567
AA Change: M109V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000066741
Gene: ENSMUSG00000039697
AA Change: M109V
| 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 benign
Transcript: ENSMUST00000213836
AA Change: M109V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215725
AA Change: M109V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215740
AA Change: M109V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215926
AA Change: M109V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217398
AA Change: M35V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.2%
|
| Validation Efficiency |
96% (87/91) |
| 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 |
|---|
| Adam15 |
G |
A |
3: 89,250,874 (GRCm39) |
Q581* |
probably null |
Het |
| Agl |
A |
G |
3: 116,587,423 (GRCm39) |
V44A |
probably damaging |
Het |
| Alpk3 |
T |
A |
7: 80,742,008 (GRCm39) |
D608E |
possibly damaging |
Het |
| Aspm |
C |
A |
1: 139,382,965 (GRCm39) |
|
probably benign |
Het |
| Bbs2 |
T |
C |
8: 94,794,995 (GRCm39) |
N692S |
probably benign |
Het |
| Bend4 |
A |
G |
5: 67,575,161 (GRCm39) |
I240T |
probably benign |
Het |
| Casp8 |
G |
T |
1: 58,872,895 (GRCm39) |
R277L |
possibly damaging |
Het |
| Ccdc61 |
A |
T |
7: 18,634,865 (GRCm39) |
I123N |
probably damaging |
Het |
| Ccr9 |
T |
G |
9: 123,608,499 (GRCm39) |
I60M |
probably benign |
Het |
| Cd163 |
T |
A |
6: 124,303,531 (GRCm39) |
W1066R |
probably benign |
Het |
| Cd226 |
A |
T |
18: 89,225,307 (GRCm39) |
H68L |
probably benign |
Het |
| Cdkn3 |
T |
A |
14: 47,004,674 (GRCm39) |
C79S |
probably null |
Het |
| Cnnm1 |
A |
T |
19: 43,458,162 (GRCm39) |
E658V |
probably benign |
Het |
| Cog7 |
T |
C |
7: 121,555,252 (GRCm39) |
R304G |
probably damaging |
Het |
| Cpt1a |
T |
A |
19: 3,415,760 (GRCm39) |
V286E |
possibly damaging |
Het |
| Creg2 |
C |
A |
1: 39,664,122 (GRCm39) |
R212L |
probably benign |
Het |
| Cyp26a1 |
T |
G |
19: 37,688,410 (GRCm39) |
S311A |
probably damaging |
Het |
| Cyp2b10 |
T |
C |
7: 25,625,648 (GRCm39) |
Y484H |
probably benign |
Het |
| Cyp3a44 |
T |
A |
5: 145,725,277 (GRCm39) |
Y308F |
possibly damaging |
Het |
| Dlg5 |
A |
G |
14: 24,214,157 (GRCm39) |
V744A |
probably benign |
Het |
| Dlgap2 |
T |
A |
8: 14,777,128 (GRCm39) |
Y124* |
probably null |
Het |
| Dnah3 |
T |
C |
7: 119,522,103 (GRCm39) |
D4030G |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,458,730 (GRCm39) |
T4456A |
possibly damaging |
Het |
| Dtx2 |
T |
A |
5: 136,052,553 (GRCm39) |
V347D |
probably benign |
Het |
| Gigyf2 |
C |
T |
1: 87,334,889 (GRCm39) |
T294M |
probably damaging |
Het |
| Gli3 |
C |
G |
13: 15,900,747 (GRCm39) |
S1378* |
probably null |
Het |
| Gnao1 |
G |
A |
8: 94,693,627 (GRCm39) |
D337N |
probably benign |
Het |
| Gp2 |
T |
A |
7: 119,048,352 (GRCm39) |
Q422L |
probably benign |
Het |
| Ifit1 |
T |
A |
19: 34,625,869 (GRCm39) |
M335K |
possibly damaging |
Het |
| Ism1 |
T |
C |
2: 139,520,677 (GRCm39) |
S30P |
probably benign |
Het |
| Itgax |
A |
G |
7: 127,739,619 (GRCm39) |
D677G |
probably damaging |
Het |
| Kansl1l |
G |
A |
1: 66,765,081 (GRCm39) |
A442V |
probably damaging |
Het |
| Kif13a |
T |
C |
13: 46,925,000 (GRCm39) |
I311M |
probably damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,432,946 (GRCm39) |
S1232P |
possibly damaging |
Het |
| Lsm14b |
T |
A |
2: 179,673,218 (GRCm39) |
S84R |
probably benign |
Het |
| Lzts3 |
A |
G |
2: 130,478,208 (GRCm39) |
Y297H |
probably damaging |
Het |
| Map4k3 |
A |
G |
17: 80,952,191 (GRCm39) |
I205T |
probably damaging |
Het |
| Matn2 |
A |
T |
15: 34,410,311 (GRCm39) |
N501I |
probably damaging |
Het |
| Mctp2 |
T |
C |
7: 71,752,925 (GRCm39) |
E776G |
probably damaging |
Het |
| Mex3d |
A |
T |
10: 80,218,421 (GRCm39) |
N265K |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,111,115 (GRCm39) |
T1534A |
probably benign |
Het |
| Nek4 |
G |
A |
14: 30,679,036 (GRCm39) |
|
probably null |
Het |
| Ngrn |
T |
C |
7: 79,911,681 (GRCm39) |
|
probably null |
Het |
| Nlrp1a |
T |
A |
11: 71,013,846 (GRCm39) |
Q468L |
probably benign |
Het |
| Or11g27 |
T |
A |
14: 50,771,655 (GRCm39) |
M262K |
probably damaging |
Het |
| Or5b98 |
A |
C |
19: 12,931,895 (GRCm39) |
Q314P |
probably benign |
Het |
| Phtf2 |
T |
C |
5: 20,980,932 (GRCm39) |
D433G |
probably damaging |
Het |
| Prdm13 |
G |
A |
4: 21,683,852 (GRCm39) |
Q140* |
probably null |
Het |
| Prtg |
G |
A |
9: 72,799,536 (GRCm39) |
G778E |
probably benign |
Het |
| Pum3 |
T |
C |
19: 27,397,451 (GRCm39) |
E308G |
probably damaging |
Het |
| Pwp1 |
T |
G |
10: 85,718,750 (GRCm39) |
F306V |
probably damaging |
Het |
| Rab24 |
A |
T |
13: 55,469,389 (GRCm39) |
Y27N |
probably damaging |
Het |
| Rnf215 |
T |
C |
11: 4,085,898 (GRCm39) |
F126L |
probably benign |
Het |
| Samd13 |
A |
T |
3: 146,386,451 (GRCm39) |
|
probably benign |
Het |
| Serac1 |
T |
A |
17: 6,115,324 (GRCm39) |
H213L |
probably benign |
Het |
| Slc45a3 |
A |
G |
1: 131,905,811 (GRCm39) |
E278G |
probably damaging |
Het |
| Slit3 |
C |
T |
11: 35,591,063 (GRCm39) |
R1292C |
probably damaging |
Het |
| Slx4 |
A |
T |
16: 3,818,815 (GRCm39) |
|
probably null |
Het |
| Smarca4 |
C |
A |
9: 21,558,726 (GRCm39) |
T631K |
probably benign |
Het |
| Snx16 |
C |
T |
3: 10,499,541 (GRCm39) |
R163Q |
possibly damaging |
Het |
| Stk40 |
T |
C |
4: 126,022,688 (GRCm39) |
V140A |
probably damaging |
Het |
| Tcf12 |
A |
T |
9: 71,775,522 (GRCm39) |
D409E |
probably damaging |
Het |
| Tgfbr2 |
G |
T |
9: 115,939,323 (GRCm39) |
T168K |
possibly damaging |
Het |
| Ticam1 |
G |
T |
17: 56,578,703 (GRCm39) |
H131N |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,660,232 (GRCm39) |
R7458I |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,543,855 (GRCm39) |
E31298* |
probably null |
Het |
| Usp7 |
A |
G |
16: 8,529,966 (GRCm39) |
V133A |
possibly damaging |
Het |
| Wbp1l |
C |
T |
19: 46,642,619 (GRCm39) |
R191* |
probably null |
Het |
| Wdfy4 |
T |
C |
14: 32,827,968 (GRCm39) |
E1118G |
probably damaging |
Het |
| Zfp81 |
G |
C |
17: 33,555,819 (GRCm39) |
P3A |
probably damaging |
Het |
| Znhit6 |
A |
G |
3: 145,282,688 (GRCm39) |
K21R |
possibly 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 |
|
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 |
|
R9136:Ncoa7
|
UTSW |
10 |
30,567,628 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
|
| Posted On |
2017-03-31 |
Incidental Mutation