Incidental Mutation 'R1349:Atf7ip2'
| ID |
156622 |
| 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 |
039414-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R1349 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.8%
|
| Validation Efficiency |
98% (46/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810004N23Rik |
G |
A |
8: 125,587,992 (GRCm39) |
T36I |
possibly damaging |
Het |
| Adcy2 |
T |
A |
13: 68,816,652 (GRCm39) |
N778I |
probably damaging |
Het |
| Ak5 |
G |
T |
3: 152,239,071 (GRCm39) |
D301E |
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 |
| Ccdc157 |
A |
T |
11: 4,099,056 (GRCm39) |
I48N |
probably benign |
Het |
| Cd209d |
C |
A |
8: 3,928,515 (GRCm39) |
|
probably benign |
Het |
| Cecr2 |
G |
A |
6: 120,734,564 (GRCm39) |
G613E |
probably damaging |
Het |
| Clspn |
C |
T |
4: 126,457,770 (GRCm39) |
A98V |
probably benign |
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 |
| Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
| Dbpht2 |
C |
CNNNNNNNNNNNNNNNNNN |
12: 74,345,836 (GRCm39) |
|
noncoding transcript |
Het |
| Dlg1 |
T |
C |
16: 31,631,638 (GRCm39) |
I208T |
probably damaging |
Het |
| Dmxl1 |
A |
T |
18: 50,021,920 (GRCm39) |
N1612Y |
probably damaging |
Het |
| Epha3 |
A |
G |
16: 63,431,416 (GRCm39) |
I495T |
possibly damaging |
Het |
| Frem1 |
T |
C |
4: 82,840,542 (GRCm39) |
|
probably benign |
Het |
| Glipr1 |
A |
G |
10: 111,829,437 (GRCm39) |
V108A |
probably benign |
Het |
| Gpatch2l |
T |
C |
12: 86,307,483 (GRCm39) |
L287P |
possibly damaging |
Het |
| Hp |
T |
G |
8: 110,301,938 (GRCm39) |
K337Q |
probably benign |
Het |
| Htr1a |
T |
A |
13: 105,581,874 (GRCm39) |
C371* |
probably null |
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 |
| Map4k4 |
C |
A |
1: 40,060,319 (GRCm39) |
P1103Q |
probably damaging |
Het |
| Mybph |
T |
C |
1: 134,121,353 (GRCm39) |
S38P |
probably benign |
Het |
| Myo1e |
T |
G |
9: 70,194,351 (GRCm39) |
|
probably benign |
Het |
| Nefh |
T |
TNNNNNNNNNNNNNNNNNN |
11: 4,891,010 (GRCm39) |
|
probably benign |
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 |
| Pkd1 |
T |
C |
17: 24,794,240 (GRCm39) |
C1976R |
probably damaging |
Het |
| Pogz |
T |
A |
3: 94,768,199 (GRCm39) |
L126M |
probably damaging |
Het |
| Rec8 |
T |
C |
14: 55,856,431 (GRCm39) |
Y68H |
probably damaging |
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 |
| Slc6a7 |
C |
T |
18: 61,133,615 (GRCm39) |
G527D |
probably benign |
Het |
| Spopfm1 |
A |
G |
3: 94,173,435 (GRCm39) |
T148A |
possibly damaging |
Het |
| Tgm1 |
A |
G |
14: 55,948,658 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,929,267 (GRCm39) |
V2770A |
possibly damaging |
Het |
| Togaram1 |
T |
A |
12: 65,057,919 (GRCm39) |
M1502K |
probably damaging |
Het |
| Vmn1r11 |
G |
A |
6: 57,114,963 (GRCm39) |
C209Y |
probably benign |
Het |
| Vmn2r102 |
A |
T |
17: 19,880,887 (GRCm39) |
|
probably benign |
Het |
| Vmn2r12 |
T |
C |
5: 109,234,452 (GRCm39) |
M587V |
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,578,642 (GRCm39) |
F84L |
possibly damaging |
Het |
| Wdr35 |
A |
T |
12: 9,069,870 (GRCm39) |
|
probably benign |
Het |
| Wdr73 |
C |
A |
7: 80,543,000 (GRCm39) |
V176L |
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 |
|
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 |
|
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'- TTCTCACATGTTGTCCCGAACTCAAA -3'
(R):5'- ACAGTAATGAAGCAAAAGGCCCTAAACT -3'
Sequencing Primer
(F):5'- CAGAAATTAGAGGAGTTGTGACC -3'
(R):5'- actcagataaacacacataacagac -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation