Incidental Mutation 'R3778:Ncoa7'
ID |
271910 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ncoa7
|
Ensembl Gene |
ENSMUSG00000039697 |
Gene Name |
nuclear receptor coactivator 7 |
Synonyms |
9030406N13Rik |
MMRRC Submission |
040750-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3778 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
30521578-30683401 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 30565752 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 632
(Y632H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150021
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068567]
[ENSMUST00000213836]
[ENSMUST00000215740]
[ENSMUST00000215926]
|
AlphaFold |
Q6DFV7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068567
AA Change: Y681H
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000066741 Gene: ENSMUSG00000039697 AA Change: Y681H
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: Y670H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000215740
AA Change: Y681H
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000215926
AA Change: Y632H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217398
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
|
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 |
Adcy8 |
A |
T |
15: 64,618,846 (GRCm39) |
L769H |
probably damaging |
Het |
Aldh1a7 |
A |
T |
19: 20,696,675 (GRCm39) |
M106K |
possibly damaging |
Het |
Ankfn1 |
G |
T |
11: 89,332,220 (GRCm39) |
P442Q |
probably damaging |
Het |
Aox1 |
A |
C |
1: 58,092,862 (GRCm39) |
D158A |
possibly damaging |
Het |
Apc |
A |
G |
18: 34,446,134 (GRCm39) |
N976S |
probably damaging |
Het |
Cfap54 |
C |
T |
10: 92,740,206 (GRCm39) |
|
probably benign |
Het |
Cldn1 |
C |
T |
16: 26,190,216 (GRCm39) |
C54Y |
probably damaging |
Het |
Col22a1 |
A |
T |
15: 71,845,541 (GRCm39) |
I407N |
probably damaging |
Het |
Cyp2e1 |
T |
C |
7: 140,343,822 (GRCm39) |
V20A |
possibly damaging |
Het |
Erp27 |
A |
T |
6: 136,896,901 (GRCm39) |
N100K |
possibly damaging |
Het |
Fbn1 |
C |
T |
2: 125,159,006 (GRCm39) |
C2253Y |
probably damaging |
Het |
Fhip1b |
T |
A |
7: 105,037,435 (GRCm39) |
T383S |
probably damaging |
Het |
Flnb |
G |
A |
14: 7,915,353 (GRCm38) |
V1495I |
probably benign |
Het |
Fscn3 |
A |
C |
6: 28,430,031 (GRCm39) |
K67T |
possibly damaging |
Het |
Gls |
A |
G |
1: 52,208,071 (GRCm39) |
V571A |
probably benign |
Het |
Gm14569 |
T |
A |
X: 35,696,085 (GRCm39) |
M875L |
probably benign |
Het |
Gm4871 |
A |
G |
5: 144,966,893 (GRCm39) |
S197P |
probably damaging |
Het |
Gm7104 |
A |
T |
12: 88,252,441 (GRCm39) |
|
noncoding transcript |
Het |
Gp9 |
A |
T |
6: 87,755,987 (GRCm39) |
M1L |
probably benign |
Het |
Greb1l |
T |
A |
18: 10,469,444 (GRCm39) |
L153H |
possibly damaging |
Het |
H1f8 |
T |
C |
6: 115,926,708 (GRCm39) |
|
probably null |
Het |
Hadha |
A |
T |
5: 30,325,127 (GRCm39) |
C688S |
probably damaging |
Het |
Hif1an |
A |
G |
19: 44,557,847 (GRCm39) |
D243G |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,678,575 (GRCm39) |
D515E |
possibly damaging |
Het |
Hsfy2 |
A |
T |
1: 56,675,847 (GRCm39) |
V230E |
possibly damaging |
Het |
Ighv1-72 |
A |
T |
12: 115,721,636 (GRCm39) |
S107T |
probably damaging |
Het |
Inpp4b |
T |
A |
8: 82,768,621 (GRCm39) |
V710D |
possibly damaging |
Het |
Itpr3 |
A |
G |
17: 27,314,446 (GRCm39) |
D632G |
possibly damaging |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Lrig2 |
A |
G |
3: 104,365,277 (GRCm39) |
I625T |
probably benign |
Het |
Lrp2 |
A |
T |
2: 69,339,548 (GRCm39) |
M1121K |
probably benign |
Het |
Man2b2 |
T |
C |
5: 36,972,871 (GRCm39) |
N548D |
probably benign |
Het |
Mei1 |
T |
C |
15: 81,966,209 (GRCm39) |
L277P |
probably damaging |
Het |
Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
Mycbp2 |
T |
A |
14: 103,434,721 (GRCm39) |
I2241F |
probably damaging |
Het |
Nalcn |
G |
A |
14: 123,702,128 (GRCm39) |
T461M |
probably damaging |
Het |
Ncoa6 |
A |
G |
2: 155,263,115 (GRCm39) |
S440P |
probably damaging |
Het |
Notch2 |
T |
C |
3: 98,053,939 (GRCm39) |
S2201P |
probably damaging |
Het |
Or10c1 |
T |
C |
17: 37,522,649 (GRCm39) |
T32A |
probably benign |
Het |
Or5p52 |
C |
A |
7: 107,501,954 (GRCm39) |
A10E |
probably benign |
Het |
Pard6g |
A |
T |
18: 80,123,038 (GRCm39) |
|
probably null |
Het |
Pask |
T |
A |
1: 93,255,189 (GRCm39) |
I294F |
probably damaging |
Het |
Pax9 |
A |
G |
12: 56,743,533 (GRCm39) |
Y60C |
probably damaging |
Het |
Pcdh15 |
G |
A |
10: 73,782,983 (GRCm39) |
|
probably null |
Het |
Pik3c2g |
A |
T |
6: 139,599,385 (GRCm39) |
Y167F |
probably damaging |
Het |
Ppfibp2 |
A |
G |
7: 107,328,396 (GRCm39) |
T476A |
probably benign |
Het |
Ppm1e |
T |
C |
11: 87,139,754 (GRCm39) |
|
probably null |
Het |
Rsph14 |
T |
G |
10: 74,793,420 (GRCm39) |
Q360P |
possibly damaging |
Het |
Rsph14 |
C |
G |
10: 74,793,419 (GRCm39) |
Q360H |
possibly damaging |
Het |
Sec24c |
A |
G |
14: 20,733,375 (GRCm39) |
Q234R |
possibly damaging |
Het |
Shcbp1 |
A |
T |
8: 4,786,295 (GRCm39) |
N602K |
probably benign |
Het |
Sirt5 |
A |
G |
13: 43,536,583 (GRCm39) |
|
probably null |
Het |
Slc66a1 |
T |
C |
4: 139,026,293 (GRCm39) |
|
probably null |
Het |
Sp8 |
G |
T |
12: 118,812,750 (GRCm39) |
V202L |
possibly damaging |
Het |
Tle6 |
G |
T |
10: 81,431,987 (GRCm39) |
P86T |
probably benign |
Het |
Tmem235 |
A |
T |
11: 117,753,126 (GRCm39) |
H83L |
probably benign |
Het |
Trappc10 |
A |
G |
10: 78,036,636 (GRCm39) |
V861A |
possibly damaging |
Het |
Trpm2 |
A |
C |
10: 77,771,824 (GRCm39) |
L605R |
probably benign |
Het |
Vat1l |
T |
C |
8: 114,963,540 (GRCm39) |
|
probably null |
Het |
Wnt6 |
A |
C |
1: 74,821,941 (GRCm39) |
D174A |
possibly damaging |
Het |
Wwox |
T |
C |
8: 115,601,347 (GRCm39) |
C355R |
probably benign |
Het |
Zfp229 |
A |
T |
17: 21,964,183 (GRCm39) |
T138S |
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 |
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'- TTGCAGTTGTGTCAAAATGACC -3'
(R):5'- GAACCTTTTAACTGTCACTGGTG -3'
Sequencing Primer
(F):5'- AGTATGCACCCTTCAAGAAGC -3'
(R):5'- AACTGTCACTGGTGTTAACAGG -3'
|
Posted On |
2015-03-25 |