Incidental Mutation 'R8124:Atf7ip2'
| ID |
631670 |
| 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 |
067553-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R8124 (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 10026999 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 89
(V89A)
|
| 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: V89A
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000036731
Gene: ENSMUSG00000039200
AA Change: V89A
| 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: V89A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097766
Gene: ENSMUSG00000039200
AA Change: V89A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
180 |
192 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117220
AA Change: V89A
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000113573
Gene: ENSMUSG00000039200
AA Change: V89A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
180 |
192 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119023
AA Change: V89A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113480
Gene: ENSMUSG00000039200
AA Change: V89A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
180 |
192 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230872
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 94.5%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap3 |
T |
A |
5: 24,683,128 (GRCm39) |
I320N |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,984,487 (GRCm39) |
G1924S |
probably damaging |
Het |
| Ap2a2 |
G |
A |
7: 141,178,757 (GRCm39) |
R141H |
probably benign |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Csnk2a2 |
G |
A |
8: 96,182,575 (GRCm39) |
P296L |
|
Het |
| Dab2 |
T |
A |
15: 6,458,878 (GRCm39) |
C263* |
probably null |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Ddx60 |
C |
T |
8: 62,436,945 (GRCm39) |
A965V |
probably benign |
Het |
| Dennd5a |
A |
T |
7: 109,497,142 (GRCm39) |
I1119N |
probably damaging |
Het |
| Dpy30 |
A |
G |
17: 74,623,099 (GRCm39) |
|
probably benign |
Het |
| Epg5 |
G |
A |
18: 78,008,211 (GRCm39) |
A780T |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,811,451 (GRCm39) |
D1546G |
probably benign |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| F13a1 |
T |
C |
13: 37,209,779 (GRCm39) |
K62R |
probably damaging |
Het |
| Gm2832 |
T |
C |
14: 41,000,894 (GRCm39) |
M44T |
|
Het |
| Gm9195 |
T |
C |
14: 72,680,063 (GRCm39) |
I2249V |
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,290,136 (GRCm39) |
V2323A |
probably benign |
Het |
| Ice2 |
T |
A |
9: 69,307,777 (GRCm39) |
N20K |
probably damaging |
Het |
| Klf15 |
T |
C |
6: 90,443,863 (GRCm39) |
F146S |
probably damaging |
Het |
| Lgi3 |
A |
G |
14: 70,772,178 (GRCm39) |
Y241C |
probably damaging |
Het |
| Lig4 |
A |
T |
8: 10,022,954 (GRCm39) |
D275E |
probably damaging |
Het |
| Lrit1 |
T |
A |
14: 36,784,005 (GRCm39) |
S444R |
probably benign |
Het |
| Lrrc37 |
A |
G |
11: 103,511,257 (GRCm39) |
V237A |
unknown |
Het |
| Mip |
T |
C |
10: 128,062,070 (GRCm39) |
V107A |
possibly damaging |
Het |
| Mtrex |
A |
C |
13: 113,063,871 (GRCm39) |
D7E |
probably benign |
Het |
| Myo15a |
G |
A |
11: 60,398,279 (GRCm39) |
V1581M |
|
Het |
| Nckap1l |
A |
G |
15: 103,382,248 (GRCm39) |
D481G |
possibly damaging |
Het |
| Obox3 |
A |
T |
7: 15,323,874 (GRCm39) |
|
probably null |
Het |
| Or11h4 |
C |
T |
14: 50,973,743 (GRCm39) |
R292H |
probably benign |
Het |
| Or2d3 |
G |
A |
7: 106,491,088 (GRCm39) |
T76I |
possibly damaging |
Het |
| Or5a21 |
T |
A |
19: 12,310,834 (GRCm39) |
N129Y |
probably damaging |
Het |
| Or5p1 |
C |
A |
7: 107,916,984 (GRCm39) |
N294K |
possibly damaging |
Het |
| Or8g27 |
T |
C |
9: 39,128,967 (GRCm39) |
F105L |
probably benign |
Het |
| Pilrb2 |
T |
A |
5: 137,869,306 (GRCm39) |
E98V |
probably damaging |
Het |
| Plekhm1 |
A |
G |
11: 103,257,775 (GRCm39) |
V1053A |
probably benign |
Het |
| Prdm2 |
A |
T |
4: 142,861,835 (GRCm39) |
V485E |
probably damaging |
Het |
| Riox2 |
G |
A |
16: 59,306,954 (GRCm39) |
E282K |
probably benign |
Het |
| Rps6ka2 |
T |
A |
17: 7,549,228 (GRCm39) |
V379E |
possibly damaging |
Het |
| Slc4a7 |
G |
A |
14: 14,729,211 (GRCm38) |
E20K |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,210,711 (GRCm39) |
|
probably null |
Het |
| Spata3 |
C |
T |
1: 85,952,075 (GRCm39) |
R110C |
unknown |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Tent4a |
G |
A |
13: 69,681,716 (GRCm39) |
|
probably benign |
Het |
| Tmem132d |
T |
C |
5: 127,869,624 (GRCm39) |
Q570R |
probably damaging |
Het |
| Tmem87a |
T |
C |
2: 120,222,676 (GRCm39) |
T168A |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,207,995 (GRCm39) |
R1747G |
probably benign |
Het |
| Txk |
C |
T |
5: 72,860,606 (GRCm39) |
|
probably null |
Het |
| Vcan |
T |
A |
13: 89,852,373 (GRCm39) |
L862F |
possibly damaging |
Het |
| Wdr64 |
A |
T |
1: 175,626,844 (GRCm39) |
|
probably null |
Het |
| Zfp106 |
G |
T |
2: 120,354,812 (GRCm39) |
Q1343K |
probably benign |
Het |
| Zfp719 |
A |
G |
7: 43,239,314 (GRCm39) |
T301A |
probably benign |
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 |
|
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 |
|
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'- TCTCAATCTGTGGGTCATGAC -3'
Sequencing Primer
(F):5'- CAGACTAACTGGGTCTACATAGTG -3'
(R):5'- CTATACTGAAGGGCTGCAGC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation