Incidental Mutation 'R7327:Ncoa7'
| ID |
569000 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncoa7
|
| Ensembl Gene |
ENSMUSG00000039697 |
| Gene Name |
nuclear receptor coactivator 7 |
| Synonyms |
9030406N13Rik |
| MMRRC Submission |
045420-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7327 (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 G
at 30565796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 666
(M666T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068567]
[ENSMUST00000213836]
[ENSMUST00000215740]
[ENSMUST00000215926]
|
| AlphaFold |
Q6DFV7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068567
AA Change: M666T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000066741
Gene: ENSMUSG00000039697
AA Change: M666T
| 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: M655T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215740
AA Change: M666T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215926
AA Change: M617T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217398
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
All alleles(108) : Gene trapped(108) |
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
C |
T |
16: 20,367,430 (GRCm39) |
T3I |
probably benign |
Het |
| Ahi1 |
T |
A |
10: 20,862,976 (GRCm39) |
V717E |
probably damaging |
Het |
| Anapc4 |
A |
G |
5: 53,002,672 (GRCm39) |
T238A |
probably damaging |
Het |
| Arhgap27 |
A |
T |
11: 103,251,367 (GRCm39) |
C120* |
probably null |
Het |
| Bdp1 |
A |
T |
13: 100,178,040 (GRCm39) |
V1943D |
probably damaging |
Het |
| Cdc14b |
A |
G |
13: 64,373,461 (GRCm39) |
V141A |
probably damaging |
Het |
| Cfap46 |
G |
T |
7: 139,215,062 (GRCm39) |
|
probably null |
Het |
| Cgnl1 |
C |
A |
9: 71,633,165 (GRCm39) |
R62L |
possibly damaging |
Het |
| Chaf1a |
A |
G |
17: 56,369,573 (GRCm39) |
S522G |
probably benign |
Het |
| Cox19 |
A |
G |
5: 139,328,402 (GRCm39) |
F37S |
probably damaging |
Het |
| Csmd1 |
G |
A |
8: 16,108,721 (GRCm39) |
S1894L |
probably damaging |
Het |
| Cyp4a12a |
A |
T |
4: 115,184,756 (GRCm39) |
R346W |
probably damaging |
Het |
| Dip2a |
A |
C |
10: 76,108,396 (GRCm39) |
C1315G |
probably benign |
Het |
| Dmxl2 |
A |
C |
9: 54,308,869 (GRCm39) |
W1961G |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,240,486 (GRCm39) |
L1945P |
probably damaging |
Het |
| Efr3a |
A |
G |
15: 65,691,627 (GRCm39) |
S92G |
probably damaging |
Het |
| Ep300 |
C |
T |
15: 81,511,515 (GRCm39) |
T865I |
unknown |
Het |
| Ercc6 |
A |
G |
14: 32,248,361 (GRCm39) |
E304G |
probably benign |
Het |
| Filip1l |
A |
C |
16: 57,391,300 (GRCm39) |
E629D |
probably damaging |
Het |
| Frem1 |
G |
A |
4: 82,938,992 (GRCm39) |
T30I |
possibly damaging |
Het |
| Glb1 |
T |
C |
9: 114,246,126 (GRCm39) |
F59S |
probably benign |
Het |
| Gli3 |
T |
C |
13: 15,900,144 (GRCm39) |
L1177P |
probably benign |
Het |
| Gpatch2l |
A |
G |
12: 86,303,646 (GRCm39) |
T223A |
probably damaging |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,479,565 (GRCm39) |
M4633K |
probably benign |
Het |
| Hoxc8 |
T |
A |
15: 102,899,542 (GRCm39) |
Y111N |
probably damaging |
Het |
| Ifi207 |
A |
G |
1: 173,556,581 (GRCm39) |
L726P |
probably benign |
Het |
| Iqcn |
T |
A |
8: 71,169,453 (GRCm39) |
M1181K |
possibly damaging |
Het |
| Iqgap2 |
T |
A |
13: 95,772,163 (GRCm39) |
M1339L |
probably benign |
Het |
| Kif21b |
A |
G |
1: 136,087,387 (GRCm39) |
Q901R |
possibly damaging |
Het |
| Krtap4-8 |
C |
A |
11: 99,671,234 (GRCm39) |
C79F |
unknown |
Het |
| Ldb3 |
T |
C |
14: 34,293,759 (GRCm39) |
N155S |
probably damaging |
Het |
| Mad2l1 |
T |
A |
6: 66,516,794 (GRCm39) |
V162E |
probably benign |
Het |
| Map7 |
T |
A |
10: 20,109,208 (GRCm39) |
V87E |
unknown |
Het |
| Mndal |
A |
T |
1: 173,703,185 (GRCm39) |
D73E |
unknown |
Het |
| Msantd1 |
T |
C |
5: 35,075,039 (GRCm39) |
S34P |
probably damaging |
Het |
| Myh14 |
T |
C |
7: 44,260,977 (GRCm39) |
Q1838R |
possibly damaging |
Het |
| Myh15 |
G |
T |
16: 48,993,369 (GRCm39) |
R1668L |
possibly damaging |
Het |
| Nol6 |
A |
T |
4: 41,116,686 (GRCm39) |
L944Q |
probably benign |
Het |
| Or5h27 |
A |
T |
16: 59,006,376 (GRCm39) |
F157I |
unknown |
Het |
| Orc1 |
A |
G |
4: 108,445,911 (GRCm39) |
T10A |
probably benign |
Het |
| Pcp4l1 |
G |
A |
1: 171,002,034 (GRCm39) |
A42V |
possibly damaging |
Het |
| Pglyrp2 |
C |
T |
17: 32,634,893 (GRCm39) |
A490T |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,720,187 (GRCm39) |
C395* |
probably null |
Het |
| Ppp1r11 |
T |
C |
17: 37,261,900 (GRCm39) |
R12G |
possibly damaging |
Het |
| Prlr |
A |
G |
15: 10,346,524 (GRCm39) |
D290G |
probably benign |
Het |
| Ptpn21 |
G |
T |
12: 98,646,360 (GRCm39) |
R1033S |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,570,660 (GRCm39) |
L1220P |
possibly damaging |
Het |
| Rufy3 |
G |
A |
5: 88,790,811 (GRCm39) |
R504H |
probably damaging |
Het |
| Scgb2b21 |
C |
T |
7: 33,219,330 (GRCm39) |
V25I |
probably benign |
Het |
| Sh3bgrl2 |
T |
C |
9: 83,430,542 (GRCm39) |
S11P |
possibly damaging |
Het |
| Slain2 |
A |
T |
5: 73,132,002 (GRCm39) |
T498S |
probably benign |
Het |
| Slc12a4 |
C |
T |
8: 106,682,347 (GRCm39) |
G121S |
probably damaging |
Het |
| Slc30a9 |
A |
T |
5: 67,499,462 (GRCm39) |
I307F |
probably damaging |
Het |
| Snap91 |
C |
T |
9: 86,655,598 (GRCm39) |
G800R |
unknown |
Het |
| Tnc |
G |
T |
4: 63,882,999 (GRCm39) |
|
probably null |
Het |
| Trav21-dv12 |
T |
C |
14: 54,113,514 (GRCm39) |
|
probably benign |
Het |
| Txk |
A |
T |
5: 72,873,226 (GRCm39) |
I228N |
probably damaging |
Het |
| Vac14 |
T |
C |
8: 111,438,252 (GRCm39) |
Y622H |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wdr35 |
T |
G |
12: 9,037,312 (GRCm39) |
M306R |
probably benign |
Het |
| Zan |
A |
T |
5: 137,463,494 (GRCm39) |
S562T |
probably benign |
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 |
|
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'- CAAGTATGCACCCTTCAAGAAG -3'
(R):5'- TAGGTGAATCGTGCTCCCAC -3'
Sequencing Primer
(F):5'- GTATGCACCCTTCAAGAAGCTAAAAC -3'
(R):5'- GTCACTGGTGTTAACAGG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation