Incidental Mutation 'R1887:Ncoa7'
| ID |
209659 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncoa7
|
| Ensembl Gene |
ENSMUSG00000039697 |
| Gene Name |
nuclear receptor coactivator 7 |
| Synonyms |
9030406N13Rik |
| MMRRC Submission |
039908-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1887 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
30521578-30683401 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30524448 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 823
(N823S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150021
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068567]
[ENSMUST00000092610]
[ENSMUST00000213836]
[ENSMUST00000213897]
[ENSMUST00000215740]
[ENSMUST00000215926]
[ENSMUST00000217138]
[ENSMUST00000216172]
[ENSMUST00000217644]
|
| AlphaFold |
Q6DFV7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068567
AA Change: N872S
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000066741
Gene: ENSMUSG00000039697
AA Change: N872S
| 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 |
unknown
Transcript: ENSMUST00000092610
AA Change: N150S
|
| SMART Domains |
Protein: ENSMUSP00000090273
Gene: ENSMUSG00000039697
AA Change: N150S
| Domain | Start | End | E-Value | Type |
|---|
|
TLDc
|
59 |
221 |
2.86e-64 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213836
AA Change: N861S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213889
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213897
AA Change: N150S
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215740
AA Change: N872S
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215926
AA Change: N823S
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217138
AA Change: N150S
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216172
AA Change: N150S
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217644
AA Change: N150S
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| Coding Region Coverage |
- 1x: 97.1%
- 3x: 96.1%
- 10x: 93.2%
- 20x: 86.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(108) : Gene trapped(108) |
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,853,909 (GRCm39) |
I249M |
possibly damaging |
Het |
| 1700102P08Rik |
T |
A |
9: 108,270,809 (GRCm39) |
D124E |
possibly damaging |
Het |
| 4930544D05Rik |
A |
G |
11: 70,507,249 (GRCm39) |
E98G |
probably damaging |
Het |
| Abca8a |
A |
T |
11: 109,980,768 (GRCm39) |
M90K |
probably damaging |
Het |
| Adamts9 |
A |
G |
6: 92,849,769 (GRCm39) |
|
probably null |
Het |
| Adora3 |
A |
C |
3: 105,812,152 (GRCm39) |
N13H |
possibly damaging |
Het |
| Aen |
A |
T |
7: 78,557,073 (GRCm39) |
D307V |
probably damaging |
Het |
| Akr1c18 |
T |
A |
13: 4,193,287 (GRCm39) |
N126I |
probably benign |
Het |
| Ankmy2 |
T |
A |
12: 36,220,467 (GRCm39) |
M51K |
possibly damaging |
Het |
| Antkmt |
C |
A |
17: 26,010,319 (GRCm39) |
|
probably null |
Het |
| Apc |
A |
G |
18: 34,405,521 (GRCm39) |
E159G |
probably damaging |
Het |
| Arhgef28 |
G |
T |
13: 98,282,081 (GRCm39) |
S4R |
probably damaging |
Het |
| Atg2b |
G |
A |
12: 105,620,351 (GRCm39) |
T784M |
probably benign |
Het |
| Atp11a |
A |
G |
8: 12,862,324 (GRCm39) |
N59D |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,595,861 (GRCm39) |
Y1875C |
probably benign |
Het |
| Capza1 |
A |
T |
3: 104,747,096 (GRCm39) |
|
probably null |
Het |
| Ccdc81 |
T |
C |
7: 89,515,819 (GRCm39) |
E620G |
possibly damaging |
Het |
| Cdcp2 |
T |
C |
4: 106,959,899 (GRCm39) |
F105L |
probably damaging |
Het |
| Cdhr18 |
A |
C |
14: 13,828,607 (GRCm38) |
Y718D |
probably damaging |
Het |
| Cep152 |
A |
T |
2: 125,462,225 (GRCm39) |
M58K |
probably benign |
Het |
| Comtd1 |
A |
G |
14: 21,897,809 (GRCm39) |
L108P |
probably damaging |
Het |
| Cyp2b13 |
A |
G |
7: 25,788,075 (GRCm39) |
Y401C |
probably damaging |
Het |
| Dap3 |
A |
G |
3: 88,838,281 (GRCm39) |
L86P |
probably damaging |
Het |
| Dmxl1 |
G |
A |
18: 49,992,202 (GRCm39) |
R316H |
probably benign |
Het |
| Eea1 |
T |
A |
10: 95,854,073 (GRCm39) |
|
probably null |
Het |
| Eeig1 |
T |
A |
2: 32,450,140 (GRCm39) |
N129K |
possibly damaging |
Het |
| Ezhip |
GTCATCATCATCATC |
GTCATCATCATCATCATC |
X: 5,994,645 (GRCm39) |
|
probably benign |
Het |
| Fam171a1 |
T |
C |
2: 3,221,380 (GRCm39) |
V157A |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,878,357 (GRCm39) |
I3375F |
probably damaging |
Het |
| Fmod |
A |
G |
1: 133,968,551 (GRCm39) |
E197G |
possibly damaging |
Het |
| Fsd1l |
T |
C |
4: 53,696,984 (GRCm39) |
|
probably null |
Het |
| Gbp2b |
A |
G |
3: 142,314,063 (GRCm39) |
T448A |
probably benign |
Het |
| Gpatch1 |
A |
T |
7: 35,002,813 (GRCm39) |
N232K |
probably damaging |
Het |
| H2-Q4 |
A |
G |
17: 35,599,113 (GRCm39) |
R128G |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,924,623 (GRCm39) |
I435V |
probably benign |
Het |
| Hmgxb3 |
A |
G |
18: 61,270,473 (GRCm39) |
|
probably null |
Het |
| Il23r |
A |
T |
6: 67,450,785 (GRCm39) |
D231E |
possibly damaging |
Het |
| Irag1 |
A |
G |
7: 110,523,740 (GRCm39) |
|
probably null |
Het |
| Kcnt2 |
T |
A |
1: 140,511,985 (GRCm39) |
S1023T |
probably damaging |
Het |
| Klc2 |
A |
G |
19: 5,158,640 (GRCm39) |
V618A |
probably benign |
Het |
| Lzts1 |
T |
C |
8: 69,591,485 (GRCm39) |
D221G |
probably damaging |
Het |
| Mdn1 |
G |
C |
4: 32,742,540 (GRCm39) |
R3926P |
probably damaging |
Het |
| Med24 |
A |
G |
11: 98,609,642 (GRCm39) |
|
probably benign |
Het |
| Mga |
T |
A |
2: 119,754,098 (GRCm39) |
L869Q |
probably damaging |
Het |
| Mob3a |
G |
A |
10: 80,527,068 (GRCm39) |
Q86* |
probably null |
Het |
| Nlrp5 |
T |
A |
7: 23,116,909 (GRCm39) |
V211D |
probably damaging |
Het |
| Nr1h4 |
A |
T |
10: 89,290,729 (GRCm39) |
M433K |
possibly damaging |
Het |
| Ofcc1 |
T |
C |
13: 40,360,100 (GRCm39) |
S310G |
possibly damaging |
Het |
| Or4k49 |
G |
T |
2: 111,495,099 (GRCm39) |
S176I |
probably damaging |
Het |
| Or5p57 |
T |
C |
7: 107,665,985 (GRCm39) |
N7D |
probably benign |
Het |
| Or8k22 |
A |
G |
2: 86,163,617 (GRCm39) |
F28L |
possibly damaging |
Het |
| Pdlim7 |
C |
T |
13: 55,653,981 (GRCm39) |
G212D |
probably benign |
Het |
| Pdzd4 |
G |
A |
X: 72,839,052 (GRCm39) |
R419C |
probably damaging |
Het |
| Pik3cd |
T |
A |
4: 149,737,091 (GRCm39) |
I902F |
probably damaging |
Het |
| Pip5kl1 |
A |
G |
2: 32,468,517 (GRCm39) |
T198A |
probably damaging |
Het |
| Prkdc |
T |
C |
16: 15,647,499 (GRCm39) |
V3641A |
probably benign |
Het |
| Rp1l1 |
T |
C |
14: 64,265,839 (GRCm39) |
V475A |
probably benign |
Het |
| Rpl37 |
C |
T |
15: 5,148,072 (GRCm39) |
T83M |
possibly damaging |
Het |
| Scml4 |
A |
G |
10: 42,788,223 (GRCm39) |
Y51C |
probably damaging |
Het |
| Serinc5 |
A |
T |
13: 92,838,214 (GRCm39) |
D340V |
possibly damaging |
Het |
| Stambpl1 |
A |
G |
19: 34,213,808 (GRCm39) |
I346V |
probably benign |
Het |
| Syna |
G |
A |
5: 134,588,106 (GRCm39) |
S281L |
probably benign |
Het |
| Tcstv2a |
G |
T |
13: 120,725,604 (GRCm39) |
K89N |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,193,094 (GRCm39) |
T447A |
possibly damaging |
Het |
| Tgfbr3 |
A |
G |
5: 107,284,874 (GRCm39) |
F592L |
probably damaging |
Het |
| Tmc7 |
A |
T |
7: 118,160,310 (GRCm39) |
F176I |
possibly damaging |
Het |
| Trip4 |
T |
A |
9: 65,782,163 (GRCm39) |
I190F |
probably null |
Het |
| Ttc6 |
T |
A |
12: 57,720,044 (GRCm39) |
S872T |
probably benign |
Het |
| Ttc7b |
C |
T |
12: 100,381,389 (GRCm39) |
|
probably null |
Het |
| Ubap2 |
C |
T |
4: 41,199,872 (GRCm39) |
A752T |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,182,871 (GRCm39) |
L419P |
probably damaging |
Het |
| Ush2a |
C |
A |
1: 188,132,177 (GRCm39) |
Q800K |
probably benign |
Het |
| Vmn2r115 |
T |
C |
17: 23,565,007 (GRCm39) |
I298T |
possibly damaging |
Het |
| Vmn2r28 |
T |
C |
7: 5,491,288 (GRCm39) |
T320A |
possibly damaging |
Het |
| Zfp804b |
T |
C |
5: 6,820,376 (GRCm39) |
R860G |
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 |
|
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 |
|
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'- AACTCCTTGTGCTGGGTTTC -3'
(R):5'- CACATGGGTTCCAGTTAGAGCTG -3'
Sequencing Primer
(F):5'- TCTAAGCTGTCTGTATGCTTCAG -3'
(R):5'- TTGCTGAAAGAGTTATAAGATCCAAG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation