Incidental Mutation 'R1372:Atf7ip2'
ID |
157382 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atf7ip2
|
Ensembl Gene |
ENSMUSG00000039200 |
Gene Name |
activating transcription factor 7 interacting protein 2 |
Synonyms |
4930558K11Rik, PSM2, Get-1 |
MMRRC Submission |
039436-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R1372 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
10010513-10068595 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 10052195 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 225
(V225I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113480
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044005]
[ENSMUST00000117220]
[ENSMUST00000119023]
[ENSMUST00000230872]
|
AlphaFold |
Q3UL97 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044005
AA Change: V225I
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000036731 Gene: ENSMUSG00000039200 AA Change: V225I
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 |
possibly damaging
Transcript: ENSMUST00000117220
AA Change: V225I
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000113573 Gene: ENSMUSG00000039200 AA Change: V225I
Domain | Start | End | E-Value | Type |
low complexity region
|
180 |
192 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119023
AA Change: V225I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113480 Gene: ENSMUSG00000039200 AA Change: V225I
Domain | Start | End | E-Value | Type |
low complexity region
|
180 |
192 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158938
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229819
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230872
AA Change: V8I
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
Meta Mutation Damage Score |
0.0661 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030J22Rik |
T |
A |
8: 117,698,696 (GRCm39) |
Q137L |
possibly damaging |
Het |
Abca12 |
A |
G |
1: 71,334,016 (GRCm39) |
I1162T |
probably damaging |
Het |
Adcy2 |
T |
A |
13: 68,816,652 (GRCm39) |
N778I |
probably damaging |
Het |
Adgre5 |
G |
A |
8: 84,454,949 (GRCm39) |
P248S |
probably damaging |
Het |
Akap13 |
G |
A |
7: 75,259,340 (GRCm39) |
G655S |
possibly damaging |
Het |
Ankrd28 |
A |
T |
14: 31,467,218 (GRCm39) |
M248K |
probably benign |
Het |
Asxl3 |
T |
G |
18: 22,543,066 (GRCm39) |
S20A |
probably benign |
Het |
Car10 |
A |
T |
11: 93,469,525 (GRCm39) |
T167S |
probably benign |
Het |
Cbx7 |
C |
T |
15: 79,803,074 (GRCm39) |
G160R |
probably damaging |
Het |
Cd209d |
C |
A |
8: 3,928,515 (GRCm39) |
|
probably benign |
Het |
Cdca4 |
G |
A |
12: 112,785,537 (GRCm39) |
Q64* |
probably null |
Het |
Cela2a |
C |
T |
4: 141,546,405 (GRCm39) |
G178D |
probably damaging |
Het |
Cntnap5b |
G |
A |
1: 100,091,813 (GRCm39) |
D499N |
probably benign |
Het |
Cox7a2 |
G |
A |
9: 79,665,819 (GRCm39) |
R21* |
probably null |
Het |
Crmp1 |
G |
A |
5: 37,446,155 (GRCm39) |
G604R |
probably benign |
Het |
Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
Cxcr1 |
T |
C |
1: 74,231,161 (GRCm39) |
D287G |
probably benign |
Het |
Cyp4a12b |
T |
C |
4: 115,290,146 (GRCm39) |
I233T |
probably benign |
Het |
Dlg1 |
T |
C |
16: 31,631,638 (GRCm39) |
I208T |
probably damaging |
Het |
Dsg4 |
C |
A |
18: 20,582,733 (GRCm39) |
|
probably null |
Het |
Epha3 |
A |
G |
16: 63,431,416 (GRCm39) |
I495T |
possibly damaging |
Het |
Hmcn1 |
A |
T |
1: 150,556,466 (GRCm39) |
M2440K |
probably benign |
Het |
Klb |
G |
C |
5: 65,506,089 (GRCm39) |
R112P |
possibly damaging |
Het |
Leo1 |
T |
C |
9: 75,356,751 (GRCm39) |
V377A |
possibly damaging |
Het |
Lsg1 |
A |
G |
16: 30,383,472 (GRCm39) |
F583L |
possibly damaging |
Het |
Mphosph9 |
A |
T |
5: 124,421,808 (GRCm39) |
|
probably null |
Het |
Mpp3 |
A |
G |
11: 101,891,401 (GRCm39) |
V579A |
probably damaging |
Het |
Oca2 |
T |
A |
7: 56,185,716 (GRCm39) |
M814K |
probably benign |
Het |
Odad3 |
C |
T |
9: 21,904,916 (GRCm39) |
R290H |
probably damaging |
Het |
Pdgfra |
A |
G |
5: 75,349,924 (GRCm39) |
E936G |
probably damaging |
Het |
Pkd1 |
T |
C |
17: 24,794,240 (GRCm39) |
C1976R |
probably damaging |
Het |
Plekhg5 |
G |
A |
4: 152,189,188 (GRCm39) |
R243H |
probably damaging |
Het |
Pogz |
T |
A |
3: 94,768,199 (GRCm39) |
L126M |
probably damaging |
Het |
Rbm15 |
G |
T |
3: 107,239,946 (GRCm39) |
R151S |
possibly damaging |
Het |
Rec8 |
T |
C |
14: 55,856,431 (GRCm39) |
Y68H |
probably damaging |
Het |
Rhcg |
A |
T |
7: 79,249,122 (GRCm39) |
D366E |
probably benign |
Het |
Ryr3 |
T |
A |
2: 112,664,546 (GRCm39) |
S1582C |
probably damaging |
Het |
Sh3pxd2a |
A |
T |
19: 47,256,160 (GRCm39) |
W853R |
probably damaging |
Het |
Spopfm1 |
A |
G |
3: 94,173,435 (GRCm39) |
T148A |
possibly damaging |
Het |
Tnxb |
T |
C |
17: 34,929,267 (GRCm39) |
V2770A |
possibly damaging |
Het |
Vmn2r63 |
A |
G |
7: 42,578,642 (GRCm39) |
F84L |
possibly 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 |
|
IGL02301:Atf7ip2
|
APN |
16 |
10,028,911 (GRCm39) |
missense |
probably benign |
0.32 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCTCACATGTTGTCCCGAACTCAAA -3'
(R):5'- ACAGTAATGAAGCAAAAGGCCCTAAACT -3'
Sequencing Primer
(F):5'- CAGAAATTAGAGGAGTTGTGACC -3'
(R):5'- actcagataaacacacataacagac -3'
|
Posted On |
2014-02-18 |