Incidental Mutation 'IGL02170:Ncoa7'
| ID |
282868 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ncoa7
|
| Ensembl Gene |
ENSMUSG00000039697 |
| Gene Name |
nuclear receptor coactivator 7 |
| Synonyms |
9030406N13Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02170
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
30521578-30683401 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30565849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 599
(E599D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150021
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068567]
[ENSMUST00000213836]
[ENSMUST00000215740]
[ENSMUST00000215926]
|
| AlphaFold |
Q6DFV7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068567
AA Change: E648D
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000066741
Gene: ENSMUSG00000039697
AA Change: E648D
| 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: E637D
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215740
AA Change: E648D
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215926
AA Change: E599D
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217398
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(108) : Gene trapped(108) |
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610318N02Rik |
G |
A |
16: 16,936,196 (GRCm39) |
P176L |
probably damaging |
Het |
| 4932414N04Rik |
A |
G |
2: 68,561,467 (GRCm39) |
M265V |
probably benign |
Het |
| A2ml1 |
T |
C |
6: 128,524,173 (GRCm39) |
E1153G |
possibly damaging |
Het |
| Adam22 |
T |
C |
5: 8,184,845 (GRCm39) |
T452A |
probably benign |
Het |
| Ambra1 |
A |
G |
2: 91,597,432 (GRCm39) |
T56A |
possibly damaging |
Het |
| Atp1a4 |
A |
G |
1: 172,062,103 (GRCm39) |
V674A |
possibly damaging |
Het |
| Ccnb1 |
A |
T |
13: 100,919,994 (GRCm39) |
Y172* |
probably null |
Het |
| Chrdl2 |
A |
T |
7: 99,683,821 (GRCm39) |
T416S |
possibly damaging |
Het |
| Col6a5 |
A |
G |
9: 105,805,621 (GRCm39) |
L1095P |
unknown |
Het |
| Dhx16 |
T |
C |
17: 36,200,361 (GRCm39) |
C901R |
probably damaging |
Het |
| Dip2c |
A |
G |
13: 9,656,371 (GRCm39) |
T732A |
probably benign |
Het |
| Dnah12 |
A |
C |
14: 26,495,069 (GRCm39) |
I1376L |
probably damaging |
Het |
| Dock2 |
A |
T |
11: 34,217,949 (GRCm39) |
L1207Q |
probably damaging |
Het |
| Eif2ak1 |
A |
T |
5: 143,816,278 (GRCm39) |
H192L |
probably benign |
Het |
| Evi5 |
T |
A |
5: 107,969,750 (GRCm39) |
T54S |
probably benign |
Het |
| Fam151a |
T |
C |
4: 106,592,795 (GRCm39) |
|
probably null |
Het |
| Fam98a |
C |
T |
17: 75,847,187 (GRCm39) |
|
probably null |
Het |
| Frmd4a |
G |
A |
2: 4,570,988 (GRCm39) |
R306K |
probably damaging |
Het |
| Fxyd7 |
C |
A |
7: 30,744,432 (GRCm39) |
V28L |
possibly damaging |
Het |
| Gabrb1 |
T |
A |
5: 72,294,073 (GRCm39) |
I449K |
probably damaging |
Het |
| Gkn3 |
G |
T |
6: 87,360,493 (GRCm39) |
D167E |
possibly damaging |
Het |
| Gm14496 |
A |
T |
2: 181,638,144 (GRCm39) |
Y406F |
probably damaging |
Het |
| Gm8603 |
T |
A |
17: 13,737,073 (GRCm39) |
|
noncoding transcript |
Het |
| Hecw1 |
T |
C |
13: 14,438,743 (GRCm39) |
N880S |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,003,548 (GRCm39) |
Q49K |
possibly damaging |
Het |
| Hscb |
T |
A |
5: 110,987,492 (GRCm39) |
S35C |
probably damaging |
Het |
| Hspa12a |
T |
G |
19: 58,793,113 (GRCm39) |
K357N |
probably benign |
Het |
| Kcnu1 |
A |
T |
8: 26,427,588 (GRCm39) |
I302F |
probably damaging |
Het |
| Krtap5-3 |
T |
A |
7: 141,756,215 (GRCm39) |
C351S |
unknown |
Het |
| Mvd |
A |
G |
8: 123,164,747 (GRCm39) |
V142A |
probably benign |
Het |
| Myo1f |
A |
T |
17: 33,797,246 (GRCm39) |
I143L |
probably benign |
Het |
| Nfasc |
A |
T |
1: 132,538,104 (GRCm39) |
C495* |
probably null |
Het |
| Nfx1 |
G |
A |
4: 41,018,019 (GRCm39) |
G920E |
probably damaging |
Het |
| Nlrp4g |
T |
G |
9: 124,348,980 (GRCm38) |
|
noncoding transcript |
Het |
| Nup85 |
T |
A |
11: 115,468,757 (GRCm39) |
V200E |
probably damaging |
Het |
| Or2z2 |
T |
A |
11: 58,345,906 (GRCm39) |
I290F |
probably damaging |
Het |
| Or5an1c |
T |
C |
19: 12,218,120 (GRCm39) |
M302V |
probably benign |
Het |
| Pask |
T |
C |
1: 93,238,606 (GRCm39) |
Q1293R |
possibly damaging |
Het |
| Ppfia2 |
T |
A |
10: 106,636,646 (GRCm39) |
S232T |
probably benign |
Het |
| Prr12 |
G |
A |
7: 44,695,612 (GRCm39) |
R1285W |
unknown |
Het |
| Rimoc1 |
C |
T |
15: 4,015,848 (GRCm39) |
V239I |
probably benign |
Het |
| Rxylt1 |
A |
T |
10: 121,930,548 (GRCm39) |
D126E |
probably damaging |
Het |
| Slc1a1 |
T |
A |
19: 28,880,153 (GRCm39) |
F278I |
possibly damaging |
Het |
| Sos1 |
G |
T |
17: 80,705,719 (GRCm39) |
T1284N |
probably damaging |
Het |
| Sp2 |
T |
A |
11: 96,847,036 (GRCm39) |
Q475L |
probably damaging |
Het |
| Spmip2 |
C |
A |
3: 79,356,741 (GRCm39) |
|
probably benign |
Het |
| Spmip2 |
C |
A |
3: 79,356,742 (GRCm39) |
|
probably benign |
Het |
| Sspo |
A |
T |
6: 48,444,917 (GRCm39) |
T2134S |
possibly damaging |
Het |
| Tbx1 |
C |
A |
16: 18,401,552 (GRCm39) |
A300S |
probably benign |
Het |
| Uap1 |
A |
C |
1: 169,994,281 (GRCm39) |
V65G |
probably benign |
Het |
| Ubr2 |
G |
A |
17: 47,278,123 (GRCm39) |
T738I |
probably benign |
Het |
| Uvrag |
A |
T |
7: 98,758,297 (GRCm39) |
Y81* |
probably null |
Het |
| Vmn2r116 |
T |
G |
17: 23,603,907 (GRCm39) |
I44S |
probably benign |
Het |
| Xkr8 |
A |
T |
4: 132,455,688 (GRCm39) |
Y228* |
probably null |
Het |
| Zbtb20 |
A |
G |
16: 43,430,025 (GRCm39) |
I106V |
possibly damaging |
Het |
| Zc3h7a |
C |
T |
16: 10,964,259 (GRCm39) |
S683N |
probably benign |
Het |
| Zfp146 |
A |
T |
7: 29,861,905 (GRCm39) |
C46S |
possibly damaging |
Het |
| Zfp871 |
T |
C |
17: 32,994,662 (GRCm39) |
E152G |
possibly damaging |
Het |
| Zfp90 |
T |
C |
8: 107,146,156 (GRCm39) |
V57A |
probably damaging |
Het |
| Zhx3 |
A |
T |
2: 160,621,718 (GRCm39) |
N816K |
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 |
|
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 |
|
R9136:Ncoa7
|
UTSW |
10 |
30,567,628 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation