Incidental Mutation 'R7298:Atf7ip2'
ID |
566820 |
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 |
045402-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R7298 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
10010513-10068595 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 10027032 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 100
(I100T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036731
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044005]
[ENSMUST00000100191]
[ENSMUST00000117220]
[ENSMUST00000119023]
[ENSMUST00000230872]
|
AlphaFold |
Q3UL97 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044005
AA Change: I100T
PolyPhen 2
Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000036731 Gene: ENSMUSG00000039200 AA Change: I100T
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 damaging
Transcript: ENSMUST00000100191
AA Change: I100T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000097766 Gene: ENSMUSG00000039200 AA Change: I100T
Domain | Start | End | E-Value | Type |
low complexity region
|
180 |
192 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117220
AA Change: I100T
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000113573 Gene: ENSMUSG00000039200 AA Change: I100T
Domain | Start | End | E-Value | Type |
low complexity region
|
180 |
192 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119023
AA Change: I100T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113480 Gene: ENSMUSG00000039200 AA Change: I100T
Domain | Start | End | E-Value | Type |
low complexity region
|
180 |
192 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230872
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
96% (52/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
T |
7: 119,807,106 (GRCm39) |
T51S |
probably benign |
Het |
Abcc1 |
A |
G |
16: 14,214,336 (GRCm39) |
D204G |
possibly damaging |
Het |
Acaa1b |
C |
T |
9: 118,980,915 (GRCm39) |
E172K |
probably benign |
Het |
Adamts5 |
G |
A |
16: 85,696,806 (GRCm39) |
T117I |
probably benign |
Het |
Agmat |
A |
G |
4: 141,474,275 (GRCm39) |
E52G |
possibly damaging |
Het |
Alg9 |
C |
T |
9: 50,690,361 (GRCm39) |
A121V |
probably damaging |
Het |
Calm2 |
T |
C |
17: 87,750,165 (GRCm39) |
|
probably null |
Het |
Cfap44 |
A |
T |
16: 44,301,775 (GRCm39) |
M1838L |
probably benign |
Het |
Cym |
A |
G |
3: 107,127,009 (GRCm39) |
Y49H |
probably benign |
Het |
Dchs1 |
G |
A |
7: 105,404,338 (GRCm39) |
R2735* |
probably null |
Het |
Dnajc6 |
T |
C |
4: 101,463,808 (GRCm39) |
I187T |
probably benign |
Het |
Fam151a |
G |
T |
4: 106,592,725 (GRCm39) |
R69L |
possibly damaging |
Het |
Gm4779 |
TCGGGGCCGGGGCCGGGGCCG |
TCGGGGCCGGGGCCGGGGCCGGGGCCG |
X: 100,837,777 (GRCm39) |
|
probably benign |
Het |
Gm9922 |
C |
A |
14: 101,966,961 (GRCm39) |
G97V |
unknown |
Het |
Hacl1 |
A |
T |
14: 31,338,443 (GRCm39) |
M378K |
probably damaging |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Ighv1-82 |
A |
T |
12: 115,916,574 (GRCm39) |
I6N |
possibly damaging |
Het |
Kctd19 |
A |
C |
8: 106,109,616 (GRCm39) |
V942G |
probably benign |
Het |
Lce1l |
C |
T |
3: 92,757,483 (GRCm39) |
C125Y |
unknown |
Het |
Mmp8 |
T |
C |
9: 7,560,449 (GRCm39) |
F42S |
probably damaging |
Het |
Myom2 |
T |
C |
8: 15,148,411 (GRCm39) |
L529P |
probably damaging |
Het |
Nectin3 |
A |
T |
16: 46,268,759 (GRCm39) |
Y548N |
probably damaging |
Het |
Olfml3 |
T |
C |
3: 103,643,176 (GRCm39) |
K402E |
probably damaging |
Het |
Or4c12b |
T |
C |
2: 89,646,865 (GRCm39) |
F59S |
probably damaging |
Het |
Or6aa1 |
T |
A |
7: 86,044,131 (GRCm39) |
T192S |
probably damaging |
Het |
Otof |
T |
A |
5: 30,545,614 (GRCm39) |
I514F |
probably damaging |
Het |
Pira12 |
T |
A |
7: 3,898,264 (GRCm39) |
I353F |
possibly damaging |
Het |
Plch1 |
G |
T |
3: 63,623,458 (GRCm39) |
S603* |
probably null |
Het |
Ppa1 |
T |
A |
10: 61,502,691 (GRCm39) |
D171E |
probably benign |
Het |
Pramel23 |
C |
A |
4: 143,425,075 (GRCm39) |
D123Y |
probably benign |
Het |
Prss34 |
T |
C |
17: 25,518,737 (GRCm39) |
C240R |
probably damaging |
Het |
Ptpre |
A |
G |
7: 135,285,016 (GRCm39) |
D714G |
probably damaging |
Het |
Ranbp9 |
A |
G |
13: 43,633,936 (GRCm39) |
F157L |
probably benign |
Het |
Rbbp6 |
A |
G |
7: 122,600,417 (GRCm39) |
K1475E |
unknown |
Het |
Retnlg |
A |
G |
16: 48,693,237 (GRCm39) |
N5D |
probably benign |
Het |
Rev1 |
T |
C |
1: 38,092,185 (GRCm39) |
T1245A |
probably damaging |
Het |
Rngtt |
G |
T |
4: 33,362,927 (GRCm39) |
L360F |
probably damaging |
Het |
Scrib |
A |
C |
15: 75,936,610 (GRCm39) |
V447G |
probably damaging |
Het |
Slc22a6 |
C |
A |
19: 8,598,684 (GRCm39) |
A247E |
possibly damaging |
Het |
Slc25a20 |
G |
A |
9: 108,539,343 (GRCm39) |
|
probably benign |
Het |
Spag16 |
T |
A |
1: 69,958,585 (GRCm39) |
|
probably null |
Het |
Stx3 |
C |
T |
19: 11,767,412 (GRCm39) |
W87* |
probably null |
Het |
Syngap1 |
T |
A |
17: 27,181,961 (GRCm39) |
M1158K |
possibly damaging |
Het |
Tmed9 |
C |
A |
13: 55,741,107 (GRCm39) |
H41N |
possibly damaging |
Het |
Trav15-2-dv6-2 |
G |
A |
14: 53,887,242 (GRCm39) |
S54N |
probably benign |
Het |
Tyk2 |
C |
T |
9: 21,020,156 (GRCm39) |
V1001I |
probably benign |
Het |
Ugt8a |
A |
G |
3: 125,709,065 (GRCm39) |
V15A |
probably benign |
Het |
Uhrf2 |
A |
G |
19: 30,065,949 (GRCm39) |
E661G |
probably benign |
Het |
Vmn2r77 |
T |
A |
7: 86,449,979 (GRCm39) |
I75N |
probably benign |
Het |
Zfp346 |
T |
G |
13: 55,278,416 (GRCm39) |
V258G |
probably damaging |
Het |
Zfp87 |
T |
A |
13: 74,520,513 (GRCm39) |
K188N |
possibly damaging |
Het |
Zgrf1 |
C |
A |
3: 127,377,299 (GRCm39) |
S848* |
probably null |
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 |
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 |
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'- CATCAGGAAAGAGTAAAGCAGCTTC -3'
(R):5'- ATTCTCAATCTGTGGGTCATGAC -3'
Sequencing Primer
(F):5'- CAGACTAACTGGGTCTACATAGTG -3'
(R):5'- CTATACTGAAGGGCTGCAGC -3'
|
Posted On |
2019-06-26 |