Incidental Mutation 'R8125:Ncoa7'
| ID |
631711 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncoa7
|
| Ensembl Gene |
ENSMUSG00000039697 |
| Gene Name |
nuclear receptor coactivator 7 |
| Synonyms |
9030406N13Rik |
| MMRRC Submission |
067554-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8125 (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 C
at 30570087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 291
(K291E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068567]
[ENSMUST00000213836]
[ENSMUST00000215725]
[ENSMUST00000215740]
[ENSMUST00000215926]
|
| AlphaFold |
Q6DFV7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068567
AA Change: K291E
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000066741
Gene: ENSMUSG00000039697
AA Change: K291E
| 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 |
possibly damaging
Transcript: ENSMUST00000213836
AA Change: K291E
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215725
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215740
AA Change: K291E
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215926
AA Change: K253E
PolyPhen 2
Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217398
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 97.0%
|
| Validation Efficiency |
100% (72/72) |
| Allele List at MGI |
All alleles(108) : Gene trapped(108) |
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
C |
A |
18: 24,608,709 (GRCm39) |
T143K |
probably benign |
Het |
| 4933434E20Rik |
T |
A |
3: 89,972,818 (GRCm39) |
V74D |
possibly damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,277 (GRCm39) |
|
probably null |
Het |
| Adam20 |
A |
T |
8: 41,247,973 (GRCm39) |
I28L |
probably benign |
Het |
| Adamtsl3 |
A |
G |
7: 82,099,541 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Ahnak |
C |
T |
19: 8,989,240 (GRCm39) |
A3508V |
possibly damaging |
Het |
| Arhgap20 |
T |
C |
9: 51,738,209 (GRCm39) |
I235T |
probably damaging |
Het |
| B4galnt3 |
T |
C |
6: 120,201,554 (GRCm39) |
T164A |
probably damaging |
Het |
| Brip1 |
A |
G |
11: 86,077,817 (GRCm39) |
S204P |
possibly damaging |
Het |
| Ccdc185 |
C |
A |
1: 182,574,835 (GRCm39) |
S618I |
probably benign |
Het |
| Ckap5 |
T |
A |
2: 91,406,614 (GRCm39) |
I805K |
probably damaging |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Cmtm2a |
A |
T |
8: 105,019,343 (GRCm39) |
I82N |
probably damaging |
Het |
| Corin |
T |
A |
5: 72,515,806 (GRCm39) |
H416L |
probably damaging |
Het |
| Csnk2a2 |
G |
A |
8: 96,182,575 (GRCm39) |
P296L |
|
Het |
| Cygb |
T |
A |
11: 116,540,116 (GRCm39) |
T178S |
probably benign |
Het |
| Dchs1 |
T |
C |
7: 105,414,089 (GRCm39) |
T909A |
possibly damaging |
Het |
| Ddx60 |
C |
T |
8: 62,436,945 (GRCm39) |
A965V |
probably benign |
Het |
| Dmbt1 |
A |
G |
7: 130,700,953 (GRCm39) |
T1218A |
unknown |
Het |
| Ebf1 |
T |
C |
11: 44,863,742 (GRCm39) |
I364T |
probably damaging |
Het |
| Efcab10 |
C |
A |
12: 33,448,313 (GRCm39) |
R49S |
probably damaging |
Het |
| Eif2b1 |
G |
A |
5: 124,717,162 (GRCm39) |
|
probably benign |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Gm49358 |
T |
A |
10: 86,656,857 (GRCm39) |
F273Y |
|
Het |
| Gria2 |
T |
A |
3: 80,614,550 (GRCm39) |
I497F |
possibly damaging |
Het |
| Ipo9 |
T |
C |
1: 135,331,078 (GRCm39) |
T426A |
probably benign |
Het |
| Klhl11 |
T |
C |
11: 100,354,811 (GRCm39) |
I337V |
probably benign |
Het |
| Krtap19-5 |
A |
T |
16: 88,693,236 (GRCm39) |
Y25* |
probably null |
Het |
| Lamb2 |
T |
G |
9: 108,364,722 (GRCm39) |
S1159A |
probably benign |
Het |
| Mpig6b |
A |
T |
17: 35,284,328 (GRCm39) |
L154Q |
probably damaging |
Het |
| Mrpl28 |
T |
C |
17: 26,343,594 (GRCm39) |
I118T |
probably damaging |
Het |
| Msh3 |
A |
T |
13: 92,435,690 (GRCm39) |
N536K |
probably benign |
Het |
| Mtcl3 |
T |
C |
10: 29,072,894 (GRCm39) |
S729P |
probably damaging |
Het |
| Myh8 |
A |
G |
11: 67,190,598 (GRCm39) |
K1308E |
possibly damaging |
Het |
| Nav3 |
C |
A |
10: 109,688,520 (GRCm39) |
G586W |
probably damaging |
Het |
| Nr5a1 |
C |
T |
2: 38,591,993 (GRCm39) |
V327I |
probably damaging |
Het |
| Nup85 |
TACAAGACAA |
TACAA |
11: 115,469,063 (GRCm39) |
|
probably null |
Het |
| Or1o4 |
A |
T |
17: 37,590,935 (GRCm39) |
H125Q |
probably benign |
Het |
| Or4f4-ps1 |
A |
T |
2: 111,330,332 (GRCm39) |
D245V |
possibly damaging |
Het |
| Or4g17 |
T |
C |
2: 111,210,086 (GRCm39) |
V247A |
probably damaging |
Het |
| Pard3b |
T |
C |
1: 61,807,143 (GRCm39) |
Y53H |
probably damaging |
Het |
| Pcyox1l |
G |
A |
18: 61,840,576 (GRCm39) |
P26L |
unknown |
Het |
| Pdzrn4 |
A |
G |
15: 92,641,476 (GRCm39) |
S391G |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,825,487 (GRCm39) |
M108K |
probably damaging |
Het |
| Pibf1 |
C |
T |
14: 99,416,803 (GRCm39) |
Q459* |
probably null |
Het |
| Pkd1l1 |
C |
T |
11: 8,897,241 (GRCm39) |
C556Y |
probably damaging |
Het |
| Plin1 |
A |
G |
7: 79,379,599 (GRCm39) |
F84L |
possibly damaging |
Het |
| Rasa3 |
A |
G |
8: 13,627,801 (GRCm39) |
|
probably null |
Het |
| Sdc1 |
G |
A |
12: 8,840,663 (GRCm39) |
V143I |
probably benign |
Het |
| Skic3 |
T |
C |
13: 76,278,446 (GRCm39) |
|
probably null |
Het |
| Skor2 |
C |
A |
18: 76,947,373 (GRCm39) |
A365E |
unknown |
Het |
| Slc16a7 |
A |
G |
10: 125,164,202 (GRCm39) |
|
probably null |
Het |
| Slc25a31 |
T |
A |
3: 40,663,573 (GRCm39) |
V51E |
probably damaging |
Het |
| Slc6a6 |
C |
A |
6: 91,703,087 (GRCm39) |
F153L |
probably damaging |
Het |
| Snx7 |
T |
A |
3: 117,630,894 (GRCm39) |
K238M |
probably damaging |
Het |
| Spata3 |
C |
T |
1: 85,952,075 (GRCm39) |
R110C |
unknown |
Het |
| Spata31f3 |
A |
G |
4: 42,873,051 (GRCm39) |
L80P |
probably damaging |
Het |
| Sphkap |
T |
G |
1: 83,241,303 (GRCm39) |
Q1587P |
probably damaging |
Het |
| Tcte1 |
T |
C |
17: 45,850,618 (GRCm39) |
I298T |
possibly damaging |
Het |
| Tmem247 |
A |
G |
17: 87,229,795 (GRCm39) |
Y120C |
|
Het |
| Togaram2 |
C |
G |
17: 72,023,489 (GRCm39) |
L802V |
probably benign |
Het |
| Trim32 |
T |
C |
4: 65,532,199 (GRCm39) |
V252A |
probably benign |
Het |
| Ube2q2l |
T |
G |
6: 136,378,184 (GRCm39) |
R215S |
possibly damaging |
Het |
| Vat1 |
T |
C |
11: 101,351,029 (GRCm39) |
K404R |
probably benign |
Het |
| Xirp2 |
C |
A |
2: 67,342,379 (GRCm39) |
T1540K |
probably benign |
Het |
| Zc2hc1c |
C |
T |
12: 85,343,386 (GRCm39) |
H508Y |
probably damaging |
Het |
| Zfp407 |
A |
T |
18: 84,579,310 (GRCm39) |
M601K |
probably damaging |
Het |
| Zfp951 |
A |
T |
5: 104,963,169 (GRCm39) |
Y132* |
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 |
|
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 |
|
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 |
2020-06-30 |
Incidental Mutation