Incidental Mutation 'R9040:Ncoa7'
| ID |
687674 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncoa7
|
| Ensembl Gene |
ENSMUSG00000039697 |
| Gene Name |
nuclear receptor coactivator 7 |
| Synonyms |
9030406N13Rik |
| MMRRC Submission |
068867-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9040 (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 30530389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 764
(Y764C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068567]
[ENSMUST00000092610]
[ENSMUST00000213836]
[ENSMUST00000213897]
[ENSMUST00000215740]
[ENSMUST00000215926]
[ENSMUST00000216172]
[ENSMUST00000217138]
[ENSMUST00000217644]
|
| AlphaFold |
Q6DFV7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068567
AA Change: Y764C
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000066741
Gene: ENSMUSG00000039697
AA Change: Y764C
| 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: ENSMUST00000092610
AA Change: Y42C
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090273
Gene: ENSMUSG00000039697
AA Change: Y42C
| Domain | Start | End | E-Value | Type |
|---|
|
TLDc
|
59 |
221 |
2.86e-64 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213836
AA Change: Y753C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213897
AA Change: Y42C
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215740
AA Change: Y764C
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215926
AA Change: Y715C
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216172
AA Change: Y42C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217138
AA Change: Y42C
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217644
AA Change: Y42C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
All alleles(108) : Gene trapped(108) |
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
A |
C |
8: 44,103,363 (GRCm39) |
|
probably benign |
Het |
| Agap1 |
T |
C |
1: 89,671,466 (GRCm39) |
V391A |
probably damaging |
Het |
| Apba2 |
C |
T |
7: 64,393,072 (GRCm39) |
A531V |
possibly damaging |
Het |
| Apcdd1 |
T |
A |
18: 63,070,414 (GRCm39) |
V227E |
probably damaging |
Het |
| Bbs7 |
A |
G |
3: 36,629,987 (GRCm39) |
V564A |
probably benign |
Het |
| Ccdc154 |
T |
A |
17: 25,382,793 (GRCm39) |
M141K |
possibly damaging |
Het |
| Cd200l1 |
C |
A |
16: 45,264,509 (GRCm39) |
K16N |
possibly damaging |
Het |
| Cdk9 |
C |
A |
2: 32,597,999 (GRCm39) |
Q352H |
probably benign |
Het |
| Chsy3 |
T |
C |
18: 59,542,760 (GRCm39) |
Y633H |
probably damaging |
Het |
| Cpz |
T |
A |
5: 35,672,835 (GRCm39) |
Y195F |
possibly damaging |
Het |
| Cyp3a16 |
T |
C |
5: 145,392,922 (GRCm39) |
R128G |
possibly damaging |
Het |
| Dhodh |
A |
T |
8: 110,328,781 (GRCm39) |
|
probably benign |
Het |
| Dlec1 |
G |
A |
9: 118,950,985 (GRCm39) |
S517N |
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,889,364 (GRCm39) |
L175* |
probably null |
Het |
| Duxf1 |
A |
G |
10: 58,059,608 (GRCm39) |
I382T |
unknown |
Het |
| Ect2l |
A |
T |
10: 18,077,098 (GRCm39) |
S2T |
possibly damaging |
Het |
| Epn3 |
G |
A |
11: 94,382,749 (GRCm39) |
S445F |
possibly damaging |
Het |
| Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
| Gm7298 |
T |
C |
6: 121,764,438 (GRCm39) |
F1439S |
probably benign |
Het |
| Hormad1 |
A |
T |
3: 95,487,470 (GRCm39) |
E289D |
possibly damaging |
Het |
| Idua |
T |
C |
5: 108,828,929 (GRCm39) |
L391P |
probably damaging |
Het |
| Kank2 |
G |
T |
9: 21,706,115 (GRCm39) |
A301E |
probably damaging |
Het |
| Kcnk10 |
C |
T |
12: 98,401,098 (GRCm39) |
E526K |
probably benign |
Het |
| Kif16b |
T |
C |
2: 142,691,798 (GRCm39) |
I229V |
probably benign |
Het |
| Krt25 |
T |
C |
11: 99,207,379 (GRCm39) |
Y400C |
probably benign |
Het |
| Krt26 |
C |
T |
11: 99,222,093 (GRCm39) |
G405S |
probably benign |
Het |
| Krt42 |
G |
A |
11: 100,157,859 (GRCm39) |
R202W |
probably damaging |
Het |
| Lbr |
A |
G |
1: 181,644,910 (GRCm39) |
V547A |
probably damaging |
Het |
| Lrrc8b |
T |
C |
5: 105,628,161 (GRCm39) |
L169P |
probably benign |
Het |
| Midn |
T |
A |
10: 79,989,918 (GRCm39) |
V262D |
probably damaging |
Het |
| Mroh9 |
T |
A |
1: 162,890,069 (GRCm39) |
I223F |
probably benign |
Het |
| Mtor |
C |
A |
4: 148,548,205 (GRCm39) |
A490E |
probably benign |
Het |
| Muc16 |
G |
A |
9: 18,556,082 (GRCm39) |
Q3404* |
probably null |
Het |
| Myo5a |
A |
T |
9: 75,081,341 (GRCm39) |
E975D |
probably benign |
Het |
| Nedd4l |
T |
C |
18: 65,342,734 (GRCm39) |
L769P |
probably damaging |
Het |
| Or11g25 |
G |
T |
14: 50,722,995 (GRCm39) |
G27W |
probably benign |
Het |
| Pank4 |
C |
G |
4: 155,064,559 (GRCm39) |
T706R |
probably benign |
Het |
| Plxnc1 |
G |
T |
10: 94,779,379 (GRCm39) |
C354* |
probably null |
Het |
| Prkca |
A |
G |
11: 107,905,186 (GRCm39) |
I184T |
possibly damaging |
Het |
| Prune2 |
T |
C |
19: 17,097,991 (GRCm39) |
V1165A |
probably damaging |
Het |
| Psmc6 |
T |
A |
14: 45,581,111 (GRCm39) |
D302E |
probably benign |
Het |
| Rab11fip5 |
A |
G |
6: 85,324,915 (GRCm39) |
L464P |
probably damaging |
Het |
| Reg1 |
A |
T |
6: 78,403,268 (GRCm39) |
|
probably benign |
Het |
| Rhbdf1 |
T |
C |
11: 32,163,063 (GRCm39) |
T438A |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,609,672 (GRCm39) |
R4385G |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,784,731 (GRCm39) |
Y237H |
probably damaging |
Het |
| Scai |
G |
T |
2: 38,965,164 (GRCm39) |
T560K |
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,148,245 (GRCm39) |
L80P |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,864,762 (GRCm39) |
L574P |
probably benign |
Het |
| Slc41a1 |
T |
G |
1: 131,768,623 (GRCm39) |
S194A |
probably damaging |
Het |
| Slc6a7 |
T |
C |
18: 61,134,360 (GRCm39) |
|
probably benign |
Het |
| Slit3 |
A |
G |
11: 35,594,136 (GRCm39) |
H1442R |
probably damaging |
Het |
| Sra1 |
A |
T |
18: 36,808,790 (GRCm39) |
L281Q |
probably damaging |
Het |
| Steap2 |
A |
T |
5: 5,732,722 (GRCm39) |
W101R |
probably benign |
Het |
| Tfap2b |
C |
T |
1: 19,304,314 (GRCm39) |
R375W |
probably damaging |
Het |
| Tfr2 |
A |
T |
5: 137,572,967 (GRCm39) |
T233S |
probably benign |
Het |
| Traf3ip1 |
T |
A |
1: 91,429,092 (GRCm39) |
H286Q |
probably damaging |
Het |
| Ubash3a |
A |
G |
17: 31,457,960 (GRCm39) |
|
probably benign |
Het |
| Vmn2r85 |
A |
G |
10: 130,254,311 (GRCm39) |
I791T |
probably damaging |
Het |
| Zkscan4 |
T |
C |
13: 21,668,229 (GRCm39) |
C256R |
probably benign |
Het |
| Zscan4-ps3 |
A |
T |
7: 11,346,638 (GRCm39) |
N225Y |
probably benign |
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 |
|
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 |
|
R9136:Ncoa7
|
UTSW |
10 |
30,567,628 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACCTAGCGGTTTCACTCAG -3'
(R):5'- AGCTGTCGTGACTTAAATTCTGC -3'
Sequencing Primer
(F):5'- TAGCGGTTTCACTCAGGCCAG -3'
(R):5'- GGGTTTGAAAATTTGTCATTTCCCC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation