Incidental Mutation 'R1574:Ncoa7'
| ID |
202740 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncoa7
|
| Ensembl Gene |
ENSMUSG00000039697 |
| Gene Name |
nuclear receptor coactivator 7 |
| Synonyms |
9030406N13Rik |
| MMRRC Submission |
045014-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1574 (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 30570097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 249
(I249M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150021
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068567]
[ENSMUST00000213836]
[ENSMUST00000215725]
[ENSMUST00000215740]
[ENSMUST00000215926]
|
| AlphaFold |
Q6DFV7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068567
AA Change: I287M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066741
Gene: ENSMUSG00000039697
AA Change: I287M
| 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 damaging
Transcript: ENSMUST00000213836
AA Change: I287M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215725
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215740
AA Change: I287M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215926
AA Change: I249M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217398
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.5%
- 20x: 93.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(108) : Gene trapped(108) |
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
T |
A |
5: 81,935,296 (GRCm39) |
N1276K |
probably damaging |
Het |
| Als2cl |
A |
G |
9: 110,713,128 (GRCm39) |
E6G |
probably damaging |
Het |
| Ankrd12 |
A |
T |
17: 66,293,269 (GRCm39) |
D721E |
probably benign |
Het |
| Anpep |
A |
G |
7: 79,488,155 (GRCm39) |
|
probably null |
Het |
| Apeh |
A |
T |
9: 107,969,925 (GRCm39) |
|
probably null |
Het |
| Apob |
A |
T |
12: 8,040,839 (GRCm39) |
I655L |
possibly damaging |
Het |
| Atp2b1 |
T |
A |
10: 98,832,810 (GRCm39) |
L437Q |
probably damaging |
Het |
| Cacna2d3 |
T |
A |
14: 29,073,779 (GRCm39) |
R222S |
probably damaging |
Het |
| Cdc25b |
T |
A |
2: 131,033,057 (GRCm39) |
|
probably benign |
Het |
| Cdon |
A |
G |
9: 35,364,233 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
C |
T |
1: 189,384,910 (GRCm39) |
D2457N |
probably damaging |
Het |
| Cenpo |
A |
T |
12: 4,265,433 (GRCm39) |
|
probably null |
Het |
| Ces2b |
G |
T |
8: 105,562,521 (GRCm39) |
A284S |
probably benign |
Het |
| Clock |
T |
C |
5: 76,390,679 (GRCm39) |
D311G |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,559,257 (GRCm39) |
|
probably null |
Het |
| Dbil5 |
A |
G |
11: 76,109,308 (GRCm39) |
M71V |
probably benign |
Het |
| Ddhd1 |
A |
C |
14: 45,833,004 (GRCm39) |
L864R |
probably damaging |
Het |
| Ddx19a |
T |
C |
8: 111,719,743 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,024,052 (GRCm39) |
C1900R |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,405,514 (GRCm39) |
V666A |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,252,569 (GRCm39) |
M754K |
probably benign |
Het |
| Dnajc15 |
A |
T |
14: 78,063,854 (GRCm39) |
S145T |
probably benign |
Het |
| Drap1 |
A |
G |
19: 5,474,285 (GRCm39) |
F25S |
probably damaging |
Het |
| Drgx |
A |
G |
14: 32,327,281 (GRCm39) |
|
probably benign |
Het |
| Fam83e |
G |
A |
7: 45,376,135 (GRCm39) |
E283K |
probably damaging |
Het |
| Fbxo48 |
G |
T |
11: 16,903,368 (GRCm39) |
|
probably benign |
Het |
| Fndc3a |
A |
T |
14: 72,793,997 (GRCm39) |
I892N |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,753,611 (GRCm39) |
T2321A |
probably benign |
Het |
| Gm1110 |
G |
T |
9: 26,792,422 (GRCm39) |
|
probably benign |
Het |
| Gm5499 |
T |
C |
17: 87,386,423 (GRCm39) |
|
noncoding transcript |
Het |
| Gmnc |
G |
T |
16: 26,782,729 (GRCm39) |
|
probably benign |
Het |
| Greb1l |
A |
G |
18: 10,554,997 (GRCm39) |
D1681G |
possibly damaging |
Het |
| Hc |
G |
A |
2: 34,890,777 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
A |
C |
2: 31,294,899 (GRCm39) |
T2563P |
probably damaging |
Het |
| Iqcd |
A |
T |
5: 120,738,300 (GRCm39) |
K39N |
probably damaging |
Het |
| Irag2 |
T |
G |
6: 145,104,356 (GRCm39) |
|
probably benign |
Het |
| Kank2 |
A |
G |
9: 21,685,871 (GRCm39) |
S668P |
probably damaging |
Het |
| Kcng1 |
T |
A |
2: 168,110,961 (GRCm39) |
N68Y |
probably damaging |
Het |
| Kmt5b |
T |
A |
19: 3,836,633 (GRCm39) |
|
probably null |
Het |
| Lama2 |
T |
A |
10: 27,200,750 (GRCm39) |
I533F |
possibly damaging |
Het |
| Lcmt1 |
T |
A |
7: 123,002,131 (GRCm39) |
I132N |
probably damaging |
Het |
| Mad2l2 |
G |
T |
4: 148,227,429 (GRCm39) |
|
probably benign |
Het |
| Mcph1 |
T |
C |
8: 18,851,428 (GRCm39) |
I807T |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,722,315 (GRCm39) |
I2366V |
probably benign |
Het |
| Moxd1 |
T |
C |
10: 24,176,217 (GRCm39) |
W558R |
probably damaging |
Het |
| Myh13 |
T |
C |
11: 67,253,407 (GRCm39) |
|
probably benign |
Het |
| Myrf |
T |
C |
19: 10,202,851 (GRCm39) |
D141G |
probably damaging |
Het |
| Obox5 |
T |
C |
7: 15,492,558 (GRCm39) |
V171A |
probably damaging |
Het |
| Or13e8 |
A |
T |
4: 43,697,134 (GRCm39) |
V13D |
possibly damaging |
Het |
| Or2c1 |
T |
C |
16: 3,657,521 (GRCm39) |
I228T |
probably damaging |
Het |
| Or5ak20 |
A |
T |
2: 85,184,243 (GRCm39) |
V9E |
probably damaging |
Het |
| Or6c219 |
A |
G |
10: 129,781,379 (GRCm39) |
L69P |
probably damaging |
Het |
| Or7a36 |
C |
A |
10: 78,819,820 (GRCm39) |
N32K |
probably damaging |
Het |
| Parp4 |
A |
G |
14: 56,839,752 (GRCm39) |
T487A |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,729,845 (GRCm39) |
|
probably benign |
Het |
| Pcnx2 |
G |
A |
8: 126,500,669 (GRCm39) |
R1474C |
probably damaging |
Het |
| Qtrt2 |
A |
G |
16: 43,692,195 (GRCm39) |
|
probably benign |
Het |
| Sart1 |
G |
A |
19: 5,430,287 (GRCm39) |
P788L |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 141,984,634 (GRCm39) |
T740A |
probably benign |
Het |
| Serpinb1c |
T |
C |
13: 33,072,979 (GRCm39) |
D61G |
possibly damaging |
Het |
| Slc24a5 |
G |
A |
2: 124,922,782 (GRCm39) |
G152S |
probably damaging |
Het |
| Slc6a4 |
A |
T |
11: 76,910,022 (GRCm39) |
I426F |
possibly damaging |
Het |
| Stk33 |
C |
T |
7: 108,879,027 (GRCm39) |
V441I |
probably benign |
Het |
| Sult1c2 |
A |
G |
17: 54,143,927 (GRCm39) |
|
probably null |
Het |
| Tdpoz4 |
T |
A |
3: 93,703,835 (GRCm39) |
V44E |
probably benign |
Het |
| Tmprss13 |
C |
A |
9: 45,254,529 (GRCm39) |
T432K |
probably damaging |
Het |
| Traf7 |
A |
G |
17: 24,729,527 (GRCm39) |
L428P |
probably damaging |
Het |
| Tubb1 |
T |
C |
2: 174,299,215 (GRCm39) |
I299T |
probably benign |
Het |
| Vmn1r158 |
A |
T |
7: 22,489,772 (GRCm39) |
W146R |
probably damaging |
Het |
| Vmn1r42 |
A |
G |
6: 89,822,059 (GRCm39) |
I170T |
possibly damaging |
Het |
| Vmn2r116 |
A |
T |
17: 23,606,063 (GRCm39) |
H325L |
probably damaging |
Het |
| Zfp516 |
T |
A |
18: 83,011,300 (GRCm39) |
L1111H |
possibly damaging |
Het |
| Zfp61 |
C |
G |
7: 23,990,635 (GRCm39) |
K505N |
probably damaging |
Het |
| Zfp653 |
C |
A |
9: 21,969,274 (GRCm39) |
E331* |
probably null |
Het |
| Zfp949 |
A |
T |
9: 88,451,830 (GRCm39) |
K467* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGCCAGGTAGATCTTAAATAGC -3'
(R):5'- ACATGGAAGGTTCTGTGATGGC -3'
Sequencing Primer
(F):5'- GTCCCTTGCTTCTGCAAAT -3'
(R):5'- AAGGTTCTGTGATGGCTGAGGAATAC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation