Incidental Mutation 'R1182:Atf7ip2'
ID |
101660 |
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 |
039254-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R1182 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
10010513-10068595 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 10059699 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 413
(L413S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036731
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044005]
[ENSMUST00000117220]
[ENSMUST00000119023]
[ENSMUST00000230872]
|
AlphaFold |
Q3UL97 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044005
AA Change: L413S
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000036731 Gene: ENSMUSG00000039200 AA Change: L413S
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: ENSMUST00000117220
|
SMART Domains |
Protein: ENSMUSP00000113573 Gene: ENSMUSG00000039200
Domain | Start | End | E-Value | Type |
low complexity region
|
180 |
192 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119023
|
SMART Domains |
Protein: ENSMUSP00000113480 Gene: ENSMUSG00000039200
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 |
probably benign
Transcript: ENSMUST00000230872
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 93.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl1 |
T |
A |
8: 84,656,451 (GRCm39) |
D256E |
probably damaging |
Het |
Adnp |
G |
A |
2: 168,026,716 (GRCm39) |
A193V |
possibly damaging |
Het |
Clip1 |
T |
C |
5: 123,785,928 (GRCm39) |
N252S |
probably damaging |
Het |
Cubn |
A |
T |
2: 13,449,811 (GRCm39) |
N904K |
probably damaging |
Het |
Draxin |
T |
C |
4: 148,192,394 (GRCm39) |
E306G |
probably damaging |
Het |
Gabrr1 |
T |
A |
4: 33,132,680 (GRCm39) |
F9L |
probably benign |
Het |
Hyal6 |
T |
A |
6: 24,743,416 (GRCm39) |
C371S |
probably damaging |
Het |
Jag1 |
T |
A |
2: 136,933,409 (GRCm39) |
I506F |
probably benign |
Het |
Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
Or52e8b |
T |
C |
7: 104,673,285 (GRCm39) |
T301A |
probably damaging |
Het |
Or8k20 |
T |
C |
2: 86,106,612 (GRCm39) |
N73S |
probably damaging |
Het |
Plekhg6 |
C |
G |
6: 125,349,455 (GRCm39) |
E381Q |
probably damaging |
Het |
Prag1 |
A |
G |
8: 36,614,413 (GRCm39) |
I1322V |
possibly damaging |
Het |
Psmc3 |
T |
C |
2: 90,886,380 (GRCm39) |
I179T |
probably damaging |
Het |
Rasgrp3 |
A |
G |
17: 75,810,185 (GRCm39) |
D295G |
probably benign |
Het |
Sh3tc2 |
T |
C |
18: 62,101,171 (GRCm39) |
V88A |
probably benign |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Vmn1r232 |
C |
A |
17: 21,133,705 (GRCm39) |
L298F |
possibly damaging |
Het |
Zfp629 |
C |
A |
7: 127,209,274 (GRCm39) |
C845F |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCCAAAAGCCTGAGCTGAAAGTG -3'
(R):5'- TGCAACATGGGATAGTACAAGGCAC -3'
Sequencing Primer
(F):5'- GCCTGAGCTGAAAGTGAAGTG -3'
(R):5'- TAGTACAAGGCACAGTGTTAGAG -3'
|
Posted On |
2014-01-15 |