Incidental Mutation 'R0058:Ncoa7'
ID |
16872 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ncoa7
|
Ensembl Gene |
ENSMUSG00000039697 |
Gene Name |
nuclear receptor coactivator 7 |
Synonyms |
9030406N13Rik |
MMRRC Submission |
038352-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0058 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
30521578-30683401 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 30523537 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 887
(D887V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150021
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068567]
[ENSMUST00000092610]
[ENSMUST00000213836]
[ENSMUST00000213897]
[ENSMUST00000215740]
[ENSMUST00000215926]
[ENSMUST00000216172]
[ENSMUST00000217644]
[ENSMUST00000217138]
|
AlphaFold |
Q6DFV7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068567
AA Change: D936V
PolyPhen 2
Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000066741 Gene: ENSMUSG00000039697 AA Change: D936V
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: ENSMUST00000092610
|
SMART Domains |
Protein: ENSMUSP00000090273 Gene: ENSMUSG00000039697
Domain | Start | End | E-Value | Type |
TLDc
|
59 |
221 |
2.86e-64 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213836
AA Change: D925V
PolyPhen 2
Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213889
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213897
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215740
AA Change: D936V
PolyPhen 2
Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000215926
AA Change: D887V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216172
AA Change: D214V
PolyPhen 2
Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217644
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217138
|
Meta Mutation Damage Score |
0.7003 |
Coding Region Coverage |
- 1x: 87.4%
- 3x: 82.9%
- 10x: 66.9%
- 20x: 41.4%
|
Validation Efficiency |
85% (62/73) |
Allele List at MGI |
All alleles(108) : Gene trapped(108) |
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
G |
13: 81,330,791 (GRCm39) |
V6088A |
possibly damaging |
Het |
Ankrd36 |
A |
G |
11: 5,580,691 (GRCm39) |
|
probably benign |
Het |
Anxa1 |
A |
T |
19: 20,361,141 (GRCm39) |
Y84N |
probably damaging |
Het |
Arnt2 |
G |
A |
7: 83,996,738 (GRCm39) |
R63C |
probably damaging |
Het |
Avpr1b |
A |
G |
1: 131,527,524 (GRCm39) |
T16A |
probably benign |
Het |
Cables1 |
A |
G |
18: 12,056,470 (GRCm39) |
E316G |
possibly damaging |
Het |
Cadm1 |
A |
T |
9: 47,761,629 (GRCm39) |
I427L |
probably damaging |
Het |
Dazap1 |
T |
C |
10: 80,097,415 (GRCm39) |
|
probably benign |
Het |
Dip2b |
A |
G |
15: 100,113,121 (GRCm39) |
E1512G |
probably benign |
Het |
Dock1 |
G |
A |
7: 134,710,490 (GRCm39) |
V1171M |
possibly damaging |
Het |
Dock5 |
A |
T |
14: 68,018,485 (GRCm39) |
F1230Y |
probably benign |
Het |
Dst |
T |
C |
1: 34,045,305 (GRCm39) |
S13P |
possibly damaging |
Het |
Dym |
G |
A |
18: 75,176,243 (GRCm39) |
E15K |
possibly damaging |
Het |
Faf1 |
A |
G |
4: 109,593,821 (GRCm39) |
Q133R |
probably benign |
Het |
Fcer2a |
T |
C |
8: 3,738,111 (GRCm39) |
|
probably benign |
Het |
Fmo2 |
A |
T |
1: 162,713,893 (GRCm39) |
S204R |
probably benign |
Het |
Ghitm |
A |
G |
14: 36,853,549 (GRCm39) |
L97P |
probably damaging |
Het |
Gins4 |
A |
G |
8: 23,719,526 (GRCm39) |
|
probably benign |
Het |
Gm10573 |
G |
A |
4: 121,754,005 (GRCm39) |
|
|
Het |
Golga3 |
T |
A |
5: 110,350,643 (GRCm39) |
F766Y |
possibly damaging |
Het |
Hapln1 |
T |
C |
13: 89,755,997 (GRCm39) |
I267T |
probably benign |
Het |
Helz |
A |
T |
11: 107,563,384 (GRCm39) |
|
probably benign |
Het |
Igll1 |
A |
T |
16: 16,681,740 (GRCm39) |
V5E |
probably benign |
Het |
Kif16b |
A |
G |
2: 142,699,225 (GRCm39) |
|
probably null |
Het |
Limk1 |
A |
T |
5: 134,688,725 (GRCm39) |
W507R |
probably damaging |
Het |
Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
Mtif3 |
C |
A |
5: 146,893,731 (GRCm39) |
V159F |
probably benign |
Het |
Pkd1 |
G |
C |
17: 24,783,677 (GRCm39) |
A162P |
probably benign |
Het |
Plce1 |
A |
G |
19: 38,513,628 (GRCm39) |
D309G |
possibly damaging |
Het |
Plk4 |
T |
C |
3: 40,760,307 (GRCm39) |
V401A |
probably benign |
Het |
Prrc2c |
C |
T |
1: 162,526,453 (GRCm39) |
V253I |
unknown |
Het |
Ranbp2 |
T |
A |
10: 58,316,353 (GRCm39) |
S2358T |
probably damaging |
Het |
Setd2 |
T |
A |
9: 110,423,494 (GRCm39) |
V2183E |
probably damaging |
Het |
Sgsm1 |
T |
A |
5: 113,432,953 (GRCm39) |
S232C |
probably damaging |
Het |
Skint6 |
A |
T |
4: 112,904,012 (GRCm39) |
|
probably benign |
Het |
Slc15a2 |
A |
G |
16: 36,574,909 (GRCm39) |
I531T |
probably benign |
Het |
Slc36a1 |
C |
T |
11: 55,112,820 (GRCm39) |
|
probably benign |
Het |
Sptan1 |
T |
C |
2: 29,883,708 (GRCm39) |
|
probably null |
Het |
Tex15 |
C |
T |
8: 34,071,530 (GRCm39) |
|
probably benign |
Het |
Tlr9 |
T |
G |
9: 106,102,164 (GRCm39) |
L485R |
possibly damaging |
Het |
Tmem207 |
A |
G |
16: 26,343,579 (GRCm39) |
|
probably benign |
Het |
Triml2 |
T |
C |
8: 43,638,306 (GRCm39) |
|
probably benign |
Het |
Tspear |
T |
C |
10: 77,705,465 (GRCm39) |
F288L |
probably benign |
Het |
Zfp644 |
A |
T |
5: 106,784,869 (GRCm39) |
S559R |
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 |
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 |
R9136:Ncoa7
|
UTSW |
10 |
30,567,628 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2013-01-20 |