Incidental Mutation 'R1978:Ncoa7'
ID |
222034 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ncoa7
|
Ensembl Gene |
ENSMUSG00000039697 |
Gene Name |
nuclear receptor coactivator 7 |
Synonyms |
9030406N13Rik |
MMRRC Submission |
039991-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1978 (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 30567295 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 412
(V412A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150021
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068567]
[ENSMUST00000213836]
[ENSMUST00000215725]
[ENSMUST00000215740]
[ENSMUST00000215926]
|
AlphaFold |
Q6DFV7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068567
AA Change: V461A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000066741 Gene: ENSMUSG00000039697 AA Change: V461A
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: ENSMUST00000213836
AA Change: V450A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215725
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215740
AA Change: V461A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215926
AA Change: V412A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217398
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(108) : Gene trapped(108) |
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
T |
A |
5: 64,055,880 (GRCm39) |
C205* |
probably null |
Het |
4921539E11Rik |
T |
A |
4: 103,127,961 (GRCm39) |
T55S |
possibly damaging |
Het |
Akap12 |
A |
G |
10: 4,263,855 (GRCm39) |
D88G |
probably benign |
Het |
Ankrd53 |
C |
A |
6: 83,740,185 (GRCm39) |
F84L |
probably damaging |
Het |
Apol7b |
A |
C |
15: 77,307,539 (GRCm39) |
F319V |
probably damaging |
Het |
Bsn |
A |
G |
9: 107,991,748 (GRCm39) |
S1335P |
probably benign |
Het |
Cep192 |
T |
C |
18: 67,936,228 (GRCm39) |
|
probably null |
Het |
Cfap57 |
A |
G |
4: 118,450,329 (GRCm39) |
S598P |
probably benign |
Het |
Commd8 |
T |
C |
5: 72,322,842 (GRCm39) |
H25R |
probably damaging |
Het |
Crisp4 |
T |
C |
1: 18,198,889 (GRCm39) |
I143V |
probably benign |
Het |
Cyp4a12b |
A |
T |
4: 115,295,342 (GRCm39) |
T483S |
probably benign |
Het |
Dbx2 |
C |
T |
15: 95,530,234 (GRCm39) |
M244I |
probably damaging |
Het |
Dnah6 |
T |
G |
6: 73,098,953 (GRCm39) |
H1982P |
possibly damaging |
Het |
Fam220a |
C |
A |
5: 143,548,882 (GRCm39) |
P98Q |
probably damaging |
Het |
Ggnbp1 |
A |
G |
17: 27,248,517 (GRCm39) |
K29E |
possibly damaging |
Het |
Gm14569 |
A |
C |
X: 35,695,781 (GRCm39) |
M976R |
probably benign |
Het |
Hck |
G |
T |
2: 152,971,776 (GRCm39) |
W112C |
probably damaging |
Het |
Heatr5a |
A |
T |
12: 51,986,441 (GRCm39) |
S591T |
possibly damaging |
Het |
Hhat |
A |
G |
1: 192,399,415 (GRCm39) |
S242P |
probably benign |
Het |
Hnrnpll |
A |
G |
17: 80,351,947 (GRCm39) |
S333P |
probably benign |
Het |
Hoxc6 |
T |
C |
15: 102,918,439 (GRCm39) |
|
probably null |
Het |
Inpp5j |
G |
A |
11: 3,452,150 (GRCm39) |
P367S |
probably damaging |
Het |
Lamc2 |
A |
G |
1: 153,009,343 (GRCm39) |
|
probably null |
Het |
Loxhd1 |
T |
A |
18: 77,409,338 (GRCm39) |
I194N |
possibly damaging |
Het |
Miga1 |
CCAGGGCAG |
CCAG |
3: 152,040,941 (GRCm39) |
|
probably null |
Het |
Mkln1 |
C |
T |
6: 31,467,465 (GRCm39) |
Q60* |
probably null |
Het |
Muc21 |
T |
A |
17: 35,933,857 (GRCm39) |
|
probably benign |
Het |
Mybph |
C |
A |
1: 134,124,734 (GRCm39) |
H185N |
probably benign |
Het |
Myo1g |
T |
C |
11: 6,470,829 (GRCm39) |
D9G |
possibly damaging |
Het |
Myo6 |
A |
T |
9: 80,136,207 (GRCm39) |
D110V |
probably damaging |
Het |
Neb |
T |
C |
2: 52,177,357 (GRCm39) |
K1328R |
probably damaging |
Het |
Olfm5 |
T |
A |
7: 103,813,948 (GRCm39) |
Q22L |
unknown |
Het |
Or10ak7 |
A |
T |
4: 118,791,381 (GRCm39) |
Y221* |
probably null |
Het |
Or4d11 |
T |
C |
19: 12,013,705 (GRCm39) |
T134A |
probably benign |
Het |
Or5j1 |
C |
T |
2: 86,879,179 (GRCm39) |
V134M |
possibly damaging |
Het |
Or6b3 |
C |
A |
1: 92,439,499 (GRCm39) |
G84C |
probably damaging |
Het |
Or6p1 |
T |
A |
1: 174,258,657 (GRCm39) |
I221N |
probably damaging |
Het |
Or7a39 |
A |
G |
10: 78,715,114 (GRCm39) |
Y36C |
probably damaging |
Het |
P3h1 |
A |
T |
4: 119,105,173 (GRCm39) |
Q717L |
probably null |
Het |
Pclo |
T |
C |
5: 14,763,809 (GRCm39) |
I4094T |
unknown |
Het |
Pfdn6 |
G |
A |
17: 34,158,051 (GRCm39) |
R73W |
probably benign |
Het |
Phyhipl |
A |
C |
10: 70,395,591 (GRCm39) |
M205R |
possibly damaging |
Het |
Pitpnm1 |
C |
T |
19: 4,157,973 (GRCm39) |
|
probably null |
Het |
Plcg1 |
A |
G |
2: 160,594,498 (GRCm39) |
|
probably null |
Het |
Pnldc1 |
A |
G |
17: 13,125,392 (GRCm39) |
S81P |
possibly damaging |
Het |
Pno1 |
T |
C |
11: 17,154,519 (GRCm39) |
I221V |
possibly damaging |
Het |
Porcn |
A |
G |
X: 8,070,540 (GRCm39) |
V75A |
probably damaging |
Het |
Prkcg |
T |
A |
7: 3,353,862 (GRCm39) |
C69S |
probably damaging |
Het |
Rbbp6 |
G |
T |
7: 122,598,711 (GRCm39) |
|
probably benign |
Het |
Resf1 |
T |
A |
6: 149,227,930 (GRCm39) |
N325K |
probably benign |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Scly |
A |
G |
1: 91,247,891 (GRCm39) |
D413G |
probably damaging |
Het |
Scn11a |
G |
A |
9: 119,609,861 (GRCm39) |
R996* |
probably null |
Het |
Skic3 |
T |
C |
13: 76,282,934 (GRCm39) |
V752A |
probably benign |
Het |
Slc6a13 |
A |
T |
6: 121,309,332 (GRCm39) |
D281V |
probably damaging |
Het |
Slfn5 |
T |
C |
11: 82,847,442 (GRCm39) |
V109A |
probably benign |
Het |
Smyd1 |
A |
T |
6: 71,289,703 (GRCm39) |
|
probably null |
Het |
Snx29 |
T |
A |
16: 11,185,588 (GRCm39) |
M57K |
probably benign |
Het |
Stag1 |
T |
G |
9: 100,770,139 (GRCm39) |
I603S |
probably benign |
Het |
Svep1 |
C |
A |
4: 58,097,292 (GRCm39) |
C1417F |
possibly damaging |
Het |
Tbc1d23 |
T |
C |
16: 57,009,714 (GRCm39) |
I392V |
probably benign |
Het |
Tchh |
T |
C |
3: 93,354,106 (GRCm39) |
L1182P |
unknown |
Het |
Tle3 |
T |
A |
9: 61,301,915 (GRCm39) |
V108E |
probably damaging |
Het |
Tmem144 |
T |
C |
3: 79,732,707 (GRCm39) |
|
probably null |
Het |
Tpr |
T |
G |
1: 150,295,658 (GRCm39) |
L894V |
possibly damaging |
Het |
Trappc9 |
A |
T |
15: 72,871,874 (GRCm39) |
V472E |
probably damaging |
Het |
Trim38 |
T |
C |
13: 23,975,081 (GRCm39) |
V340A |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Vmn1r12 |
T |
A |
6: 57,136,494 (GRCm39) |
I197N |
possibly damaging |
Het |
Vmn1r26 |
T |
C |
6: 57,986,111 (GRCm39) |
Y26C |
possibly damaging |
Het |
Vwa3a |
A |
G |
7: 120,358,177 (GRCm39) |
I83V |
probably null |
Het |
Xirp1 |
C |
T |
9: 119,847,657 (GRCm39) |
E409K |
probably benign |
Het |
Zc3h14 |
T |
G |
12: 98,730,181 (GRCm39) |
I46R |
probably damaging |
Het |
Zfp976 |
A |
G |
7: 42,263,265 (GRCm39) |
C191R |
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 |
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 |
|
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'- CTAACAGCTGTGACCCTTCC -3'
(R):5'- GCCTTGGAACCTACAGCCAAAG -3'
Sequencing Primer
(F):5'- GTGACCCTTCCTTGTTTTTATTTAGG -3'
(R):5'- GCCAAAGAAAACTGTCTTTTAAAAGG -3'
|
Posted On |
2014-08-25 |