Incidental Mutation 'IGL02301:Atf7ip2'
ID |
290297 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Atf7ip2
|
Ensembl Gene |
ENSMUSG00000039200 |
Gene Name |
activating transcription factor 7 interacting protein 2 |
Synonyms |
4930558K11Rik, PSM2, Get-1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
IGL02301
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
10010513-10068595 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 10028911 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 148
(S148A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113573
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044005]
[ENSMUST00000100191]
[ENSMUST00000117220]
[ENSMUST00000119023]
[ENSMUST00000230872]
|
AlphaFold |
Q3UL97 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044005
AA Change: S148A
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000036731 Gene: ENSMUSG00000039200 AA Change: S148A
Domain | Start | End | E-Value | Type |
Pfam:ATF7IP_BD
|
59 |
270 |
4.7e-75 |
PFAM |
low complexity region
|
322 |
336 |
N/A |
INTRINSIC |
FN3
|
346 |
435 |
7.55e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100191
AA Change: S148A
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000097766 Gene: ENSMUSG00000039200 AA Change: S148A
Domain | Start | End | E-Value | Type |
low complexity region
|
180 |
192 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117220
AA Change: S148A
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000113573 Gene: ENSMUSG00000039200 AA Change: S148A
Domain | Start | End | E-Value | Type |
low complexity region
|
180 |
192 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119023
AA Change: S148A
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000113480 Gene: ENSMUSG00000039200 AA Change: S148A
Domain | Start | End | E-Value | Type |
low complexity region
|
180 |
192 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133674
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230210
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230872
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap8l |
A |
G |
17: 32,551,900 (GRCm39) |
|
probably benign |
Het |
Alk |
T |
C |
17: 72,181,171 (GRCm39) |
Q1373R |
probably damaging |
Het |
Bpi |
C |
T |
2: 158,116,734 (GRCm39) |
S377F |
probably damaging |
Het |
Ccni |
A |
T |
5: 93,336,034 (GRCm39) |
C122S |
possibly damaging |
Het |
Cd5l |
A |
G |
3: 87,273,300 (GRCm39) |
R90G |
probably benign |
Het |
Ceacam3 |
C |
T |
7: 16,897,026 (GRCm39) |
S664F |
probably damaging |
Het |
Clca3a2 |
A |
T |
3: 144,512,133 (GRCm39) |
D534E |
probably damaging |
Het |
Ep400 |
A |
T |
5: 110,822,826 (GRCm39) |
S2524R |
probably damaging |
Het |
Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
Gart |
A |
G |
16: 91,418,725 (GRCm39) |
|
probably benign |
Het |
Gsdmc4 |
A |
G |
15: 63,767,113 (GRCm39) |
V219A |
probably benign |
Het |
Hus1 |
T |
C |
11: 8,946,915 (GRCm39) |
T261A |
probably benign |
Het |
Lman2l |
A |
G |
1: 36,482,624 (GRCm39) |
I84T |
probably damaging |
Het |
Megf8 |
G |
A |
7: 25,037,325 (GRCm39) |
V742M |
probably damaging |
Het |
Myo1d |
A |
G |
11: 80,567,679 (GRCm39) |
V267A |
probably benign |
Het |
Notch2 |
A |
G |
3: 98,048,870 (GRCm39) |
T1803A |
probably benign |
Het |
Or1e17 |
T |
A |
11: 73,831,894 (GRCm39) |
M274K |
possibly damaging |
Het |
Or4f54 |
T |
A |
2: 111,123,042 (GRCm39) |
M143K |
probably benign |
Het |
Or6c70 |
A |
G |
10: 129,709,948 (GRCm39) |
F226S |
probably damaging |
Het |
Pate11 |
T |
C |
9: 36,388,483 (GRCm39) |
|
probably benign |
Het |
Pde5a |
G |
A |
3: 122,554,534 (GRCm39) |
R208Q |
probably damaging |
Het |
Pla2r1 |
T |
C |
2: 60,282,780 (GRCm39) |
N745S |
probably benign |
Het |
Ptgdr2 |
T |
A |
19: 10,917,573 (GRCm39) |
I30N |
possibly damaging |
Het |
Rap1gap2 |
G |
A |
11: 74,298,195 (GRCm39) |
T415I |
probably damaging |
Het |
Slc6a6 |
T |
C |
6: 91,703,037 (GRCm39) |
Y137H |
probably benign |
Het |
Sptbn1 |
A |
T |
11: 30,092,129 (GRCm39) |
D532E |
probably damaging |
Het |
Stk39 |
T |
C |
2: 68,042,306 (GRCm39) |
D543G |
probably damaging |
Het |
Trpc4 |
G |
A |
3: 54,198,653 (GRCm39) |
V526M |
probably damaging |
Het |
Trrap |
A |
G |
5: 144,714,727 (GRCm39) |
I100V |
probably benign |
Het |
Vmn1r-ps123 |
A |
C |
13: 23,180,527 (GRCm39) |
|
noncoding transcript |
Het |
Vwa5b2 |
G |
A |
16: 20,423,540 (GRCm39) |
G1151D |
probably damaging |
Het |
Zfp358 |
T |
A |
8: 3,546,858 (GRCm39) |
I480N |
probably benign |
Het |
Zfp423 |
T |
C |
8: 88,508,202 (GRCm39) |
D714G |
probably damaging |
Het |
|
Other mutations in Atf7ip2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01926:Atf7ip2
|
APN |
16 |
10,059,749 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01937:Atf7ip2
|
APN |
16 |
10,059,401 (GRCm39) |
splice site |
probably null |
|
R0575:Atf7ip2
|
UTSW |
16 |
10,055,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R0671:Atf7ip2
|
UTSW |
16 |
10,059,743 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1119:Atf7ip2
|
UTSW |
16 |
10,058,476 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1182:Atf7ip2
|
UTSW |
16 |
10,059,699 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1302:Atf7ip2
|
UTSW |
16 |
10,058,472 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1346:Atf7ip2
|
UTSW |
16 |
10,052,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R1349:Atf7ip2
|
UTSW |
16 |
10,052,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R1372:Atf7ip2
|
UTSW |
16 |
10,052,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R1672:Atf7ip2
|
UTSW |
16 |
10,027,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R1696:Atf7ip2
|
UTSW |
16 |
10,052,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R1897:Atf7ip2
|
UTSW |
16 |
10,028,948 (GRCm39) |
missense |
probably damaging |
0.97 |
R1932:Atf7ip2
|
UTSW |
16 |
10,059,567 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2143:Atf7ip2
|
UTSW |
16 |
10,058,509 (GRCm39) |
missense |
probably null |
0.68 |
R4612:Atf7ip2
|
UTSW |
16 |
10,059,427 (GRCm39) |
missense |
probably benign |
0.33 |
R4732:Atf7ip2
|
UTSW |
16 |
10,059,750 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4733:Atf7ip2
|
UTSW |
16 |
10,059,750 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4934:Atf7ip2
|
UTSW |
16 |
10,059,447 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6137:Atf7ip2
|
UTSW |
16 |
10,019,275 (GRCm39) |
missense |
probably damaging |
0.99 |
R6432:Atf7ip2
|
UTSW |
16 |
10,022,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R7298:Atf7ip2
|
UTSW |
16 |
10,027,032 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7517:Atf7ip2
|
UTSW |
16 |
10,059,399 (GRCm39) |
splice site |
probably null |
|
R7744:Atf7ip2
|
UTSW |
16 |
10,059,522 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8124:Atf7ip2
|
UTSW |
16 |
10,026,999 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8245:Atf7ip2
|
UTSW |
16 |
10,019,262 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8527:Atf7ip2
|
UTSW |
16 |
10,055,129 (GRCm39) |
intron |
probably benign |
|
R9329:Atf7ip2
|
UTSW |
16 |
10,059,738 (GRCm39) |
missense |
possibly damaging |
0.51 |
R9566:Atf7ip2
|
UTSW |
16 |
10,044,893 (GRCm39) |
missense |
probably benign |
0.01 |
R9670:Atf7ip2
|
UTSW |
16 |
10,058,512 (GRCm39) |
missense |
probably benign |
0.00 |
R9779:Atf7ip2
|
UTSW |
16 |
10,055,044 (GRCm39) |
missense |
possibly damaging |
0.85 |
U24488:Atf7ip2
|
UTSW |
16 |
10,022,537 (GRCm39) |
missense |
probably damaging |
0.96 |
X0062:Atf7ip2
|
UTSW |
16 |
10,027,138 (GRCm39) |
splice site |
probably null |
|
Z1177:Atf7ip2
|
UTSW |
16 |
10,059,504 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
Posted On |
2015-04-16 |