Incidental Mutation 'IGL03065:Ncoa7'
| ID |
409654 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ncoa7
|
| Ensembl Gene |
ENSMUSG00000039697 |
| Gene Name |
nuclear receptor coactivator 7 |
| Synonyms |
9030406N13Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03065
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
30521578-30683401 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30523993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 840
(D840V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150021
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068567]
[ENSMUST00000092610]
[ENSMUST00000213836]
[ENSMUST00000213897]
[ENSMUST00000215740]
[ENSMUST00000215926]
[ENSMUST00000216172]
[ENSMUST00000217138]
[ENSMUST00000217644]
|
| AlphaFold |
Q6DFV7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068567
AA Change: D889V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000066741
Gene: ENSMUSG00000039697
AA Change: D889V
| 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 benign
Transcript: ENSMUST00000092610
|
| SMART Domains |
Protein: ENSMUSP00000090273
Gene: ENSMUSG00000039697
| Domain | Start | End | E-Value | Type |
|---|
|
TLDc
|
59 |
221 |
2.86e-64 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213836
AA Change: D878V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213889
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213897
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215740
AA Change: D889V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215926
AA Change: D840V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216172
AA Change: D167V
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217138
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217644
AA Change: D167V
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(108) : Gene trapped(108) |
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
A |
G |
8: 84,665,143 (GRCm39) |
M1322V |
possibly damaging |
Het |
| Adprh |
C |
T |
16: 38,266,396 (GRCm39) |
V249I |
probably benign |
Het |
| Afg2a |
T |
C |
3: 37,486,328 (GRCm39) |
V350A |
possibly damaging |
Het |
| Als2 |
T |
C |
1: 59,255,031 (GRCm39) |
S109G |
probably benign |
Het |
| Bpifa1 |
T |
A |
2: 153,989,562 (GRCm39) |
N250K |
probably damaging |
Het |
| Capn9 |
A |
C |
8: 125,332,298 (GRCm39) |
Y423S |
probably damaging |
Het |
| Cd200r1 |
T |
G |
16: 44,614,645 (GRCm39) |
V308G |
probably benign |
Het |
| Cic |
T |
C |
7: 24,985,246 (GRCm39) |
|
probably benign |
Het |
| Col5a1 |
T |
A |
2: 27,922,757 (GRCm39) |
I275N |
possibly damaging |
Het |
| Col6a4 |
C |
A |
9: 105,918,363 (GRCm39) |
|
probably benign |
Het |
| Cpeb1 |
T |
C |
7: 81,086,038 (GRCm39) |
R35G |
probably benign |
Het |
| Cul1 |
A |
G |
6: 47,472,015 (GRCm39) |
Y52C |
probably damaging |
Het |
| Dctn1 |
T |
C |
6: 83,169,475 (GRCm39) |
F496L |
probably damaging |
Het |
| Dock11 |
G |
T |
X: 35,310,699 (GRCm39) |
|
probably benign |
Het |
| Eaf2 |
C |
T |
16: 36,648,484 (GRCm39) |
R12H |
probably benign |
Het |
| Gcc1 |
T |
A |
6: 28,418,401 (GRCm39) |
Q644L |
possibly damaging |
Het |
| Gm44865 |
C |
T |
7: 108,165,004 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
C |
T |
16: 36,733,228 (GRCm39) |
S825L |
probably benign |
Het |
| Gstp3 |
C |
T |
19: 4,108,730 (GRCm39) |
|
probably null |
Het |
| Heph |
T |
A |
X: 95,571,173 (GRCm39) |
I669N |
probably benign |
Het |
| Il12rb1 |
A |
T |
8: 71,273,202 (GRCm39) |
Y635F |
possibly damaging |
Het |
| Ing3 |
G |
A |
6: 21,971,221 (GRCm39) |
A331T |
probably benign |
Het |
| Ipo8 |
T |
A |
6: 148,686,205 (GRCm39) |
I762F |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,310,907 (GRCm39) |
R510Q |
probably damaging |
Het |
| Kif16b |
A |
G |
2: 142,461,833 (GRCm39) |
Y1273H |
probably damaging |
Het |
| Map3k14 |
T |
C |
11: 103,115,927 (GRCm39) |
E784G |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,210,802 (GRCm39) |
N1694K |
probably damaging |
Het |
| Myh13 |
T |
C |
11: 67,235,679 (GRCm39) |
F648S |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,149,982 (GRCm39) |
H1847R |
probably benign |
Het |
| Nxpe2 |
T |
A |
9: 48,230,992 (GRCm39) |
N459I |
possibly damaging |
Het |
| Or4d10c |
C |
A |
19: 12,065,975 (GRCm39) |
L60F |
possibly damaging |
Het |
| Or4k2 |
C |
A |
14: 50,424,465 (GRCm39) |
D70Y |
probably damaging |
Het |
| Or4k47 |
T |
C |
2: 111,451,535 (GRCm39) |
K295E |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,893,682 (GRCm39) |
F485S |
probably benign |
Het |
| Parp4 |
G |
T |
14: 56,875,326 (GRCm39) |
A1182S |
probably benign |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Pla2g15 |
G |
A |
8: 106,886,851 (GRCm39) |
R114H |
probably benign |
Het |
| Plppr3 |
T |
A |
10: 79,701,880 (GRCm39) |
T321S |
probably benign |
Het |
| Rnf113a1 |
A |
G |
X: 36,455,748 (GRCm39) |
D235G |
probably benign |
Het |
| Rsrp1 |
A |
G |
4: 134,651,700 (GRCm39) |
T155A |
possibly damaging |
Het |
| Simc1 |
G |
T |
13: 54,685,025 (GRCm39) |
C87F |
probably damaging |
Het |
| Slco1a5 |
A |
G |
6: 142,194,569 (GRCm39) |
|
probably benign |
Het |
| Slco1a8 |
C |
A |
6: 141,938,228 (GRCm39) |
L230F |
probably damaging |
Het |
| Smyd5 |
A |
G |
6: 85,419,146 (GRCm39) |
D276G |
possibly damaging |
Het |
| Tmem132c |
A |
G |
5: 127,640,688 (GRCm39) |
Y953C |
probably damaging |
Het |
| Trank1 |
T |
A |
9: 111,219,361 (GRCm39) |
S2033T |
possibly damaging |
Het |
| Trim69 |
A |
G |
2: 122,009,115 (GRCm39) |
T392A |
probably damaging |
Het |
| Tsks |
T |
C |
7: 44,592,724 (GRCm39) |
V6A |
probably damaging |
Het |
| Yjefn3 |
A |
G |
8: 70,342,206 (GRCm39) |
|
probably benign |
Het |
| Zfp263 |
T |
G |
16: 3,564,344 (GRCm39) |
D211E |
probably benign |
Het |
| Zfp994 |
A |
T |
17: 22,421,661 (GRCm39) |
F51L |
probably damaging |
Het |
| Znfx1 |
A |
T |
2: 166,897,685 (GRCm39) |
M413K |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation