Incidental Mutation 'R0578:Ncoa7'
| ID |
56317 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncoa7
|
| Ensembl Gene |
ENSMUSG00000039697 |
| Gene Name |
nuclear receptor coactivator 7 |
| Synonyms |
9030406N13Rik |
| MMRRC Submission |
038768-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0578 (G1)
|
| Quality Score |
165 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
30521578-30683401 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 30577913 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150021
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068567]
[ENSMUST00000068567]
[ENSMUST00000213836]
[ENSMUST00000215725]
[ENSMUST00000215740]
[ENSMUST00000215926]
|
| AlphaFold |
Q6DFV7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000068567
|
| SMART Domains |
Protein: ENSMUSP00000066741
Gene: ENSMUSG00000039697
| 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 null
Transcript: ENSMUST00000068567
|
| SMART Domains |
Protein: ENSMUSP00000066741
Gene: ENSMUSG00000039697
| 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 null
Transcript: ENSMUST00000213836
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000215725
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000215740
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000215926
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217398
|
| Meta Mutation Damage Score |
0.9503 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
All alleles(108) : Gene trapped(108) |
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,943,556 (GRCm39) |
Y56C |
possibly damaging |
Het |
| Abca5 |
A |
T |
11: 110,167,315 (GRCm39) |
C1500* |
probably null |
Het |
| Acr |
C |
G |
15: 89,453,678 (GRCm39) |
H72Q |
probably damaging |
Het |
| Adam18 |
T |
C |
8: 25,131,863 (GRCm39) |
D416G |
possibly damaging |
Het |
| Afap1l2 |
T |
A |
19: 56,904,214 (GRCm39) |
Y691F |
probably benign |
Het |
| Akna |
A |
G |
4: 63,289,147 (GRCm39) |
S1259P |
probably benign |
Het |
| Atad2 |
G |
A |
15: 57,968,964 (GRCm39) |
T525I |
probably damaging |
Het |
| Atp2a1 |
T |
G |
7: 126,049,315 (GRCm39) |
M576L |
probably benign |
Het |
| B4galt6 |
T |
C |
18: 20,861,013 (GRCm39) |
|
probably benign |
Het |
| Best3 |
A |
G |
10: 116,844,904 (GRCm39) |
D353G |
probably benign |
Het |
| Btg3 |
A |
T |
16: 78,161,834 (GRCm39) |
D125E |
probably benign |
Het |
| Cabin1 |
A |
T |
10: 75,549,444 (GRCm39) |
D1320E |
probably damaging |
Het |
| Cachd1 |
A |
C |
4: 100,852,039 (GRCm39) |
|
probably benign |
Het |
| Cad |
T |
C |
5: 31,216,120 (GRCm39) |
V151A |
probably benign |
Het |
| Capns1 |
A |
T |
7: 29,893,453 (GRCm39) |
|
probably benign |
Het |
| Catsperg2 |
T |
A |
7: 29,404,116 (GRCm39) |
T860S |
possibly damaging |
Het |
| Ccdc61 |
T |
C |
7: 18,637,400 (GRCm39) |
T76A |
probably benign |
Het |
| Cdipt |
T |
A |
7: 126,578,702 (GRCm39) |
|
probably null |
Het |
| Cyp2d12 |
G |
A |
15: 82,440,584 (GRCm39) |
|
probably benign |
Het |
| Dennd4c |
C |
A |
4: 86,730,659 (GRCm39) |
P852Q |
probably damaging |
Het |
| Dsg2 |
G |
A |
18: 20,727,291 (GRCm39) |
V613I |
probably benign |
Het |
| Dusp16 |
G |
C |
6: 134,695,284 (GRCm39) |
L516V |
probably damaging |
Het |
| Eif2ak4 |
T |
G |
2: 118,305,472 (GRCm39) |
|
probably benign |
Het |
| Faf2 |
C |
T |
13: 54,769,658 (GRCm39) |
A2V |
possibly damaging |
Het |
| Gas2l3 |
A |
G |
10: 89,252,937 (GRCm39) |
I236T |
probably damaging |
Het |
| Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
| Got1 |
G |
T |
19: 43,504,222 (GRCm39) |
S66R |
probably benign |
Het |
| Gpr149 |
T |
A |
3: 62,510,110 (GRCm39) |
H335L |
possibly damaging |
Het |
| Hadhb |
A |
G |
5: 30,383,804 (GRCm39) |
I342M |
probably benign |
Het |
| Helz |
T |
A |
11: 107,577,226 (GRCm39) |
V1859D |
unknown |
Het |
| Htr1a |
T |
A |
13: 105,581,595 (GRCm39) |
N278K |
probably damaging |
Het |
| Inppl1 |
T |
C |
7: 101,480,795 (GRCm39) |
E355G |
probably damaging |
Het |
| Isl2 |
A |
G |
9: 55,452,319 (GRCm39) |
Y297C |
probably damaging |
Het |
| Kat7 |
T |
C |
11: 95,182,350 (GRCm39) |
H250R |
probably benign |
Het |
| Klhl30 |
A |
T |
1: 91,282,074 (GRCm39) |
D225V |
probably benign |
Het |
| Mtch2 |
T |
C |
2: 90,683,174 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
C |
A |
16: 32,755,690 (GRCm38) |
|
probably benign |
Het |
| Nuf2 |
T |
A |
1: 169,338,118 (GRCm39) |
|
probably benign |
Het |
| Or5ak24 |
T |
C |
2: 85,261,017 (GRCm39) |
D52G |
probably benign |
Het |
| Or6c8 |
A |
G |
10: 128,915,062 (GRCm39) |
Y257H |
probably damaging |
Het |
| Pced1a |
T |
A |
2: 130,261,763 (GRCm39) |
S297C |
probably damaging |
Het |
| Pi15 |
A |
T |
1: 17,673,073 (GRCm39) |
K91* |
probably null |
Het |
| Pla2g4e |
C |
T |
2: 120,075,162 (GRCm39) |
|
probably benign |
Het |
| Plce1 |
A |
T |
19: 38,766,383 (GRCm39) |
H2136L |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,061,084 (GRCm39) |
L2973P |
probably damaging |
Het |
| Poln |
A |
G |
5: 34,171,682 (GRCm39) |
I695T |
probably damaging |
Het |
| Pramel32 |
T |
A |
4: 88,552,376 (GRCm39) |
I2F |
probably benign |
Het |
| R3hdm1 |
C |
T |
1: 128,159,174 (GRCm39) |
Q950* |
probably null |
Het |
| Rxra |
C |
T |
2: 27,649,582 (GRCm39) |
A429V |
probably damaging |
Het |
| Scnn1a |
G |
A |
6: 125,299,207 (GRCm39) |
G96S |
probably damaging |
Het |
| Senp5 |
T |
A |
16: 31,808,163 (GRCm39) |
T337S |
possibly damaging |
Het |
| Smg9 |
A |
G |
7: 24,114,468 (GRCm39) |
D269G |
probably damaging |
Het |
| Srsf11 |
C |
T |
3: 157,717,704 (GRCm39) |
|
probably benign |
Het |
| Tmtc1 |
C |
T |
6: 148,256,716 (GRCm39) |
|
probably benign |
Het |
| Vmn2r19 |
T |
C |
6: 123,312,931 (GRCm39) |
V667A |
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 |
|
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 |
|
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'- TTGATGCCCCTGTAAACACAAGGATAC -3'
(R):5'- GTCCAGAGATGAACCGCAGTTAAGATG -3'
Sequencing Primer
(F):5'- CTGTAAACACAAGGATACATCTGAG -3'
(R):5'- ccaagcagggtagtcacac -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation