Incidental Mutation 'R7848:Ncoa7'
| ID |
606741 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncoa7
|
| Ensembl Gene |
ENSMUSG00000039697 |
| Gene Name |
nuclear receptor coactivator 7 |
| Synonyms |
9030406N13Rik |
| MMRRC Submission |
045902-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7848 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
30521578-30683401 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30524414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 161
(N161K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150461
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068567]
[ENSMUST00000092610]
[ENSMUST00000213836]
[ENSMUST00000213897]
[ENSMUST00000215740]
[ENSMUST00000215926]
[ENSMUST00000216172]
[ENSMUST00000217138]
[ENSMUST00000217644]
|
| AlphaFold |
Q6DFV7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068567
|
| SMART Domains |
Protein: ENSMUSP00000066741
Gene: ENSMUSG00000039697
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213897
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215740
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215926
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216172
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217138
AA Change: N161K
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217644
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
All alleles(108) : Gene trapped(108) |
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
C |
T |
5: 113,340,007 (GRCm39) |
A2T |
probably damaging |
Het |
| Abca3 |
G |
T |
17: 24,603,506 (GRCm39) |
G566V |
probably damaging |
Het |
| Aff4 |
C |
A |
11: 53,295,339 (GRCm39) |
N846K |
probably benign |
Het |
| Aldh1l2 |
C |
T |
10: 83,335,707 (GRCm39) |
R714Q |
probably benign |
Het |
| Cbln1 |
T |
C |
8: 88,198,328 (GRCm39) |
T126A |
probably damaging |
Het |
| Ccdc85a |
A |
G |
11: 28,346,123 (GRCm39) |
S446P |
possibly damaging |
Het |
| Ccdc87 |
A |
G |
19: 4,891,536 (GRCm39) |
Q676R |
probably damaging |
Het |
| Cenatac |
A |
G |
9: 44,324,939 (GRCm39) |
S139P |
probably damaging |
Het |
| Col26a1 |
T |
C |
5: 136,775,907 (GRCm39) |
K349E |
possibly damaging |
Het |
| Col6a5 |
T |
C |
9: 105,805,385 (GRCm39) |
I1174V |
unknown |
Het |
| Cyth1 |
TGGGCAA |
T |
11: 118,074,749 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
A |
G |
18: 49,973,557 (GRCm39) |
D64G |
possibly damaging |
Het |
| Dnajc15 |
T |
C |
14: 78,077,643 (GRCm39) |
H114R |
probably damaging |
Het |
| Espl1 |
T |
C |
15: 102,224,961 (GRCm39) |
F1390S |
probably damaging |
Het |
| F5 |
T |
C |
1: 163,989,446 (GRCm39) |
I116T |
possibly damaging |
Het |
| Fam120b |
T |
C |
17: 15,626,036 (GRCm39) |
V463A |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 38,942,000 (GRCm39) |
M298V |
probably benign |
Het |
| Fhad1 |
A |
T |
4: 141,632,913 (GRCm39) |
M1197K |
probably benign |
Het |
| Fn1 |
T |
A |
1: 71,689,760 (GRCm39) |
I127F |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,596,728 (GRCm39) |
|
probably benign |
Het |
| Gabpb2 |
A |
T |
3: 95,097,959 (GRCm39) |
V238E |
probably damaging |
Het |
| Gnpat |
C |
A |
8: 125,613,630 (GRCm39) |
Q626K |
possibly damaging |
Het |
| Gstm7 |
A |
T |
3: 107,835,902 (GRCm39) |
|
probably null |
Het |
| Gys2 |
G |
T |
6: 142,391,741 (GRCm39) |
S507* |
probably null |
Het |
| Ippk |
T |
A |
13: 49,596,972 (GRCm39) |
|
probably null |
Het |
| Itga8 |
T |
A |
2: 12,196,548 (GRCm39) |
N623I |
probably damaging |
Het |
| Kcnb1 |
A |
G |
2: 166,948,188 (GRCm39) |
F220S |
probably damaging |
Het |
| Kiz |
T |
A |
2: 146,731,100 (GRCm39) |
S197T |
probably benign |
Het |
| Klhl42 |
A |
G |
6: 147,009,598 (GRCm39) |
N479S |
probably damaging |
Het |
| Lims2 |
A |
G |
18: 32,091,301 (GRCm39) |
*60W |
probably null |
Het |
| Lrch4 |
A |
G |
5: 137,632,116 (GRCm39) |
N124S |
probably damaging |
Het |
| Man2a2 |
G |
C |
7: 80,018,613 (GRCm39) |
A82G |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,724,621 (GRCm39) |
V373A |
probably damaging |
Het |
| Mapkapk5 |
A |
G |
5: 121,683,232 (GRCm39) |
I11T |
probably benign |
Het |
| Mroh2b |
C |
T |
15: 4,967,861 (GRCm39) |
Q967* |
probably null |
Het |
| Mthfd1l |
A |
G |
10: 4,033,739 (GRCm39) |
T709A |
possibly damaging |
Het |
| Muc6 |
T |
C |
7: 141,232,188 (GRCm39) |
T939A |
possibly damaging |
Het |
| Ncam2 |
C |
T |
16: 81,287,267 (GRCm39) |
H394Y |
probably benign |
Het |
| Nr2c1 |
C |
T |
10: 94,026,508 (GRCm39) |
S461L |
probably benign |
Het |
| Nrg3 |
T |
C |
14: 38,390,240 (GRCm39) |
E323G |
probably damaging |
Het |
| Nufip1 |
G |
A |
14: 76,351,661 (GRCm39) |
R172H |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,111,212 (GRCm39) |
T1705A |
probably benign |
Het |
| Oaf |
G |
A |
9: 43,134,077 (GRCm39) |
R215C |
probably damaging |
Het |
| Ogfr |
T |
C |
2: 180,234,226 (GRCm39) |
L99P |
probably damaging |
Het |
| Or10am5 |
T |
C |
7: 6,517,861 (GRCm39) |
D189G |
probably damaging |
Het |
| Or51a43 |
T |
A |
7: 103,717,302 (GRCm39) |
N312I |
probably benign |
Het |
| Pcare |
T |
C |
17: 72,056,188 (GRCm39) |
D1163G |
probably benign |
Het |
| Pcdh18 |
A |
T |
3: 49,710,446 (GRCm39) |
S290T |
possibly damaging |
Het |
| Pklr |
T |
G |
3: 89,050,285 (GRCm39) |
I378S |
possibly damaging |
Het |
| Rbm12 |
A |
T |
2: 155,938,136 (GRCm39) |
M712K |
probably benign |
Het |
| Rnase10 |
T |
C |
14: 51,246,970 (GRCm39) |
V116A |
possibly damaging |
Het |
| Scube3 |
T |
C |
17: 28,384,569 (GRCm39) |
L621P |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,246,280 (GRCm39) |
I51V |
probably benign |
Het |
| Smcr8 |
A |
G |
11: 60,670,750 (GRCm39) |
T633A |
probably benign |
Het |
| St18 |
T |
C |
1: 6,927,669 (GRCm39) |
|
probably null |
Het |
| Tm9sf4 |
T |
A |
2: 153,044,275 (GRCm39) |
I509N |
probably damaging |
Het |
| Tmcc2 |
T |
C |
1: 132,288,359 (GRCm39) |
K443E |
probably damaging |
Het |
| Tmem98 |
T |
G |
11: 80,710,758 (GRCm39) |
V139G |
probably damaging |
Het |
| Trgv5 |
G |
A |
13: 19,376,849 (GRCm39) |
V99I |
probably damaging |
Het |
| Ttll1 |
T |
C |
15: 83,381,573 (GRCm39) |
E232G |
probably damaging |
Het |
| Zfp442 |
T |
C |
2: 150,253,146 (GRCm39) |
N39D |
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 |
|
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 |
|
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'- GCATCGCAGACTGAGAAACTC -3'
(R):5'- ACATGGGTTCCAGTTAGAGCTG -3'
Sequencing Primer
(F):5'- CAGACTGAGAAACTCCTTGTGCTG -3'
(R):5'- AATGTTTTAGAAGGTCTCTATGGGAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation