Incidental Mutation 'R6813:Ncoa7'
ID |
533965 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ncoa7
|
Ensembl Gene |
ENSMUSG00000039697 |
Gene Name |
nuclear receptor coactivator 7 |
Synonyms |
9030406N13Rik |
MMRRC Submission |
044925-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6813 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
30521578-30683401 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 30572188 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 157
(D157V)
|
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: D195V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000066741 Gene: ENSMUSG00000039697 AA Change: D195V
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: D195V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000215725
AA Change: D195V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000215740
AA Change: D195V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000215926
AA Change: D157V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 96.9%
|
Validation Efficiency |
100% (61/61) |
Allele List at MGI |
All alleles(108) : Gene trapped(108) |
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb2 |
C |
A |
4: 129,903,284 (GRCm39) |
Q603K |
probably damaging |
Het |
Adgrf3 |
A |
G |
5: 30,402,519 (GRCm39) |
F503S |
probably damaging |
Het |
Arfgap3 |
A |
T |
15: 83,214,794 (GRCm39) |
M164K |
probably benign |
Het |
Asb13 |
G |
T |
13: 3,695,029 (GRCm39) |
V166F |
probably damaging |
Het |
Atm |
T |
G |
9: 53,408,535 (GRCm39) |
R1103S |
probably benign |
Het |
Atxn7l1 |
T |
C |
12: 33,417,123 (GRCm39) |
I626T |
probably damaging |
Het |
Brsk2 |
A |
G |
7: 141,556,214 (GRCm39) |
I649V |
probably benign |
Het |
Ccdc25 |
T |
A |
14: 66,093,882 (GRCm39) |
M85K |
probably benign |
Het |
Cdc42bpb |
A |
G |
12: 111,294,049 (GRCm39) |
V231A |
probably damaging |
Het |
Clstn3 |
T |
A |
6: 124,413,894 (GRCm39) |
M767L |
probably benign |
Het |
Col6a6 |
C |
T |
9: 105,661,140 (GRCm39) |
R323K |
probably benign |
Het |
Cplane1 |
T |
A |
15: 8,258,766 (GRCm39) |
N2337K |
probably benign |
Het |
Creld1 |
A |
G |
6: 113,466,530 (GRCm39) |
Y199C |
probably damaging |
Het |
Csf1r |
T |
A |
18: 61,245,806 (GRCm39) |
D254E |
probably benign |
Het |
Dab2ip |
C |
T |
2: 35,620,485 (GRCm39) |
Q1118* |
probably null |
Het |
Dcun1d4 |
C |
A |
5: 73,678,300 (GRCm39) |
S98R |
possibly damaging |
Het |
Disp3 |
G |
A |
4: 148,344,387 (GRCm39) |
P505L |
probably benign |
Het |
Dlec1 |
A |
T |
9: 118,941,170 (GRCm39) |
Q240L |
probably benign |
Het |
Dnai4 |
T |
C |
4: 102,905,523 (GRCm39) |
K753E |
probably benign |
Het |
Edil3 |
T |
A |
13: 89,437,575 (GRCm39) |
I392N |
probably damaging |
Het |
Epha10 |
T |
A |
4: 124,796,486 (GRCm39) |
S398R |
|
Het |
Ephb1 |
A |
G |
9: 101,887,247 (GRCm39) |
I464T |
possibly damaging |
Het |
Eps15 |
T |
A |
4: 109,137,599 (GRCm39) |
|
probably null |
Het |
Fam111a |
T |
A |
19: 12,564,706 (GRCm39) |
C152S |
probably damaging |
Het |
Flt3 |
T |
C |
5: 147,291,653 (GRCm39) |
E599G |
probably damaging |
Het |
Frmd3 |
T |
C |
4: 74,077,482 (GRCm39) |
S259P |
probably benign |
Het |
Hsfy2 |
A |
G |
1: 56,675,461 (GRCm39) |
Y359H |
possibly damaging |
Het |
Ifih1 |
C |
T |
2: 62,476,037 (GRCm39) |
V80M |
possibly damaging |
Het |
Il12rb2 |
A |
C |
6: 67,269,358 (GRCm39) |
D818E |
probably damaging |
Het |
Il4i1 |
A |
G |
7: 44,489,236 (GRCm39) |
T334A |
probably benign |
Het |
Irs2 |
G |
A |
8: 11,054,659 (GRCm39) |
Q1258* |
probably null |
Het |
Lsm1 |
T |
G |
8: 26,283,721 (GRCm39) |
H44Q |
probably benign |
Het |
Mgam |
A |
T |
6: 40,727,099 (GRCm39) |
M1257L |
probably damaging |
Het |
Myc |
T |
C |
15: 61,860,001 (GRCm39) |
S225P |
probably damaging |
Het |
Myh1 |
T |
C |
11: 67,111,286 (GRCm39) |
V1575A |
probably benign |
Het |
Myo9b |
A |
G |
8: 71,775,949 (GRCm39) |
D380G |
probably damaging |
Het |
Or10g9b |
T |
A |
9: 39,917,753 (GRCm39) |
H164L |
probably benign |
Het |
Or2t44 |
G |
T |
11: 58,677,472 (GRCm39) |
Q137H |
probably benign |
Het |
Or7g16 |
G |
A |
9: 18,727,188 (GRCm39) |
T134M |
probably benign |
Het |
Or8b36 |
T |
C |
9: 37,937,129 (GRCm39) |
V9A |
probably damaging |
Het |
Or8b9 |
A |
C |
9: 37,766,810 (GRCm39) |
E232A |
possibly damaging |
Het |
Pccb |
A |
G |
9: 100,905,268 (GRCm39) |
V117A |
probably damaging |
Het |
Pdp2 |
C |
T |
8: 105,321,131 (GRCm39) |
H327Y |
probably damaging |
Het |
Pdzph1 |
G |
T |
17: 59,281,431 (GRCm39) |
Q284K |
probably benign |
Het |
Phka2 |
G |
A |
X: 159,316,044 (GRCm39) |
V230I |
probably damaging |
Het |
Phldb1 |
A |
T |
9: 44,610,865 (GRCm39) |
S751R |
probably damaging |
Het |
Pira1 |
T |
C |
7: 3,739,002 (GRCm39) |
H535R |
probably benign |
Het |
Ppp1r1b |
T |
A |
11: 98,240,002 (GRCm39) |
|
probably null |
Het |
Ppp1r3a |
A |
G |
6: 14,719,570 (GRCm39) |
V448A |
probably benign |
Het |
Pvrig-ps |
A |
T |
5: 138,340,312 (GRCm39) |
T28S |
probably benign |
Het |
Rasgrf1 |
G |
A |
9: 89,892,537 (GRCm39) |
|
probably null |
Het |
Scnn1g |
T |
C |
7: 121,339,576 (GRCm39) |
L125S |
probably damaging |
Het |
Slc30a7 |
A |
T |
3: 115,775,460 (GRCm39) |
D221E |
probably benign |
Het |
Spata31e1 |
T |
A |
13: 49,940,872 (GRCm39) |
R279S |
probably benign |
Het |
Tmem30c |
A |
G |
16: 57,101,622 (GRCm39) |
|
probably null |
Het |
Tmem33 |
T |
C |
5: 67,421,802 (GRCm39) |
|
probably null |
Het |
Ttc29 |
A |
T |
8: 79,060,249 (GRCm39) |
T390S |
probably benign |
Het |
Vamp5 |
G |
A |
6: 72,357,424 (GRCm39) |
|
probably benign |
Het |
Vmn2r81 |
T |
A |
10: 79,104,439 (GRCm39) |
F354Y |
probably benign |
Het |
Vmn2r96 |
A |
G |
17: 18,802,116 (GRCm39) |
H119R |
probably benign |
Het |
Wdr3 |
G |
A |
3: 100,046,041 (GRCm39) |
R931* |
probably null |
Het |
Wtap |
A |
T |
17: 13,186,397 (GRCm39) |
N383K |
probably damaging |
Het |
Zfp808 |
T |
C |
13: 62,320,849 (GRCm39) |
Y693H |
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 |
|
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 |
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'- ATCATGCACTTCAGTTGTGGG -3'
(R):5'- GAGCATGTGTCCTTCTTACCGG -3'
Sequencing Primer
(F):5'- CTTCAGTTGTGGGTAAAATACTCCC -3'
(R):5'- CATGTGTCCTTCTTACCGGTTAGAAG -3'
|
Posted On |
2018-09-12 |