Incidental Mutation 'R3114:Atf7'
ID |
477933 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atf7
|
Ensembl Gene |
ENSMUSG00000099083 |
Gene Name |
activating transcription factor 7 |
Synonyms |
9430065F09Rik, 1110012F10Rik, C130020M04Rik |
MMRRC Submission |
040587-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3114 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
102434381-102533899 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 102442858 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 417
(S417N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139181
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108828]
[ENSMUST00000169033]
[ENSMUST00000184485]
[ENSMUST00000184616]
[ENSMUST00000184772]
[ENSMUST00000184906]
|
AlphaFold |
Q8R0S1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000108828
|
SMART Domains |
Protein: ENSMUSP00000104456 Gene: ENSMUSG00000099083
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
7 |
31 |
6.32e-3 |
SMART |
low complexity region
|
108 |
130 |
N/A |
INTRINSIC |
low complexity region
|
228 |
244 |
N/A |
INTRINSIC |
low complexity region
|
300 |
318 |
N/A |
INTRINSIC |
low complexity region
|
319 |
326 |
N/A |
INTRINSIC |
BRLZ
|
330 |
394 |
3.46e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169033
|
SMART Domains |
Protein: ENSMUSP00000130130 Gene: ENSMUSG00000099083
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
7 |
31 |
6.32e-3 |
SMART |
low complexity region
|
108 |
130 |
N/A |
INTRINSIC |
low complexity region
|
228 |
244 |
N/A |
INTRINSIC |
low complexity region
|
300 |
318 |
N/A |
INTRINSIC |
low complexity region
|
319 |
326 |
N/A |
INTRINSIC |
BRLZ
|
330 |
394 |
3.46e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184485
AA Change: S417N
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000139308 Gene: ENSMUSG00000099083 AA Change: S417N
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
7 |
31 |
6.32e-3 |
SMART |
low complexity region
|
108 |
130 |
N/A |
INTRINSIC |
low complexity region
|
228 |
244 |
N/A |
INTRINSIC |
low complexity region
|
300 |
318 |
N/A |
INTRINSIC |
low complexity region
|
319 |
326 |
N/A |
INTRINSIC |
BRLZ
|
330 |
394 |
3.46e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184616
AA Change: S417N
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000139181 Gene: ENSMUSG00000099083 AA Change: S417N
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
7 |
31 |
6.32e-3 |
SMART |
low complexity region
|
108 |
130 |
N/A |
INTRINSIC |
low complexity region
|
228 |
244 |
N/A |
INTRINSIC |
low complexity region
|
300 |
318 |
N/A |
INTRINSIC |
low complexity region
|
319 |
326 |
N/A |
INTRINSIC |
BRLZ
|
330 |
394 |
3.46e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184772
|
SMART Domains |
Protein: ENSMUSP00000138975 Gene: ENSMUSG00000052414
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
7 |
31 |
6.32e-3 |
SMART |
low complexity region
|
108 |
130 |
N/A |
INTRINSIC |
low complexity region
|
228 |
244 |
N/A |
INTRINSIC |
low complexity region
|
300 |
318 |
N/A |
INTRINSIC |
low complexity region
|
319 |
326 |
N/A |
INTRINSIC |
BRLZ
|
330 |
394 |
3.46e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184906
|
SMART Domains |
Protein: ENSMUSP00000139243 Gene: ENSMUSG00000099083
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
7 |
31 |
6.32e-3 |
SMART |
low complexity region
|
108 |
130 |
N/A |
INTRINSIC |
low complexity region
|
228 |
244 |
N/A |
INTRINSIC |
low complexity region
|
300 |
318 |
N/A |
INTRINSIC |
low complexity region
|
319 |
326 |
N/A |
INTRINSIC |
BRLZ
|
330 |
394 |
3.46e-18 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
100% (33/33) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for one knock-out allele exhibit increased marble burying, increased startle response, and decreased prepulse inhibition. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cdt1 |
C |
T |
8: 123,297,221 (GRCm39) |
Q305* |
probably null |
Het |
Cfap65 |
T |
A |
1: 74,966,291 (GRCm39) |
K345N |
probably damaging |
Het |
Chrna3 |
C |
T |
9: 54,923,334 (GRCm39) |
C158Y |
probably damaging |
Het |
Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
Col11a2 |
T |
G |
17: 34,265,442 (GRCm39) |
V276G |
possibly damaging |
Het |
Dnah8 |
A |
G |
17: 31,052,542 (GRCm39) |
S4346G |
probably benign |
Het |
Dnhd1 |
T |
C |
7: 105,345,772 (GRCm39) |
|
probably null |
Het |
Espl1 |
T |
A |
15: 102,231,639 (GRCm39) |
F1945Y |
possibly damaging |
Het |
Fzd5 |
A |
G |
1: 64,774,739 (GRCm39) |
F341L |
probably benign |
Het |
Gm1587 |
T |
G |
14: 78,036,272 (GRCm39) |
E11D |
unknown |
Het |
H3c3 |
C |
A |
13: 23,929,290 (GRCm39) |
R64L |
probably benign |
Het |
Ighv5-1 |
A |
G |
12: 113,537,844 (GRCm39) |
|
probably benign |
Het |
Klhl3 |
A |
G |
13: 58,198,841 (GRCm39) |
|
probably null |
Het |
Klhl33 |
A |
T |
14: 51,128,972 (GRCm39) |
D752E |
possibly damaging |
Het |
Krt24 |
T |
A |
11: 99,173,262 (GRCm39) |
T298S |
possibly damaging |
Het |
Marchf1 |
A |
C |
8: 66,840,033 (GRCm39) |
H272P |
probably benign |
Het |
Meak7 |
G |
A |
8: 120,495,056 (GRCm39) |
A234V |
probably benign |
Het |
Mei1 |
C |
T |
15: 82,009,160 (GRCm39) |
A835V |
probably benign |
Het |
Mier3 |
T |
A |
13: 111,843,182 (GRCm39) |
I178N |
probably damaging |
Het |
Mlxipl |
A |
G |
5: 135,162,516 (GRCm39) |
|
probably benign |
Het |
Mob3a |
A |
T |
10: 80,527,136 (GRCm39) |
V63E |
probably damaging |
Het |
Nos3 |
C |
T |
5: 24,577,629 (GRCm39) |
|
probably benign |
Het |
Or4a2 |
T |
A |
2: 89,248,757 (GRCm39) |
|
probably null |
Het |
Pcdha11 |
T |
A |
18: 37,144,860 (GRCm39) |
I317K |
probably damaging |
Het |
Pcdha4 |
T |
C |
18: 37,086,603 (GRCm39) |
V262A |
probably benign |
Het |
Pde4d |
T |
A |
13: 110,084,792 (GRCm39) |
M519K |
probably damaging |
Het |
Pds5a |
A |
G |
5: 65,776,328 (GRCm39) |
S89P |
probably damaging |
Het |
Ptar1 |
T |
A |
19: 23,695,459 (GRCm39) |
C309S |
probably benign |
Het |
Rint1 |
A |
G |
5: 24,024,418 (GRCm39) |
N682S |
probably benign |
Het |
Rnmt |
A |
G |
18: 68,447,079 (GRCm39) |
E321G |
probably benign |
Het |
Serpinb8 |
A |
G |
1: 107,535,023 (GRCm39) |
I365V |
probably benign |
Het |
Sik1 |
T |
C |
17: 32,067,106 (GRCm39) |
T505A |
probably benign |
Het |
Slfn10-ps |
T |
A |
11: 82,919,955 (GRCm39) |
|
noncoding transcript |
Het |
Spmip8 |
T |
C |
8: 96,039,809 (GRCm39) |
|
probably null |
Het |
Sspn |
A |
T |
6: 145,880,095 (GRCm39) |
I66F |
possibly damaging |
Het |
Tsc22d1 |
T |
C |
14: 76,654,777 (GRCm39) |
S337P |
probably damaging |
Het |
Wdfy4 |
A |
G |
14: 32,811,860 (GRCm39) |
S1715P |
probably damaging |
Het |
|
Other mutations in Atf7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01914:Atf7
|
APN |
15 |
102,459,913 (GRCm39) |
nonsense |
probably null |
|
R2183:Atf7
|
UTSW |
15 |
102,454,908 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2516:Atf7
|
UTSW |
15 |
102,437,439 (GRCm39) |
intron |
probably benign |
|
R3115:Atf7
|
UTSW |
15 |
102,442,858 (GRCm39) |
missense |
probably benign |
0.10 |
R4544:Atf7
|
UTSW |
15 |
102,442,762 (GRCm39) |
missense |
probably benign |
0.08 |
R4545:Atf7
|
UTSW |
15 |
102,442,762 (GRCm39) |
missense |
probably benign |
0.08 |
R4546:Atf7
|
UTSW |
15 |
102,442,762 (GRCm39) |
missense |
probably benign |
0.08 |
R5148:Atf7
|
UTSW |
15 |
102,455,608 (GRCm39) |
missense |
probably benign |
0.02 |
R5568:Atf7
|
UTSW |
15 |
102,471,757 (GRCm39) |
missense |
probably damaging |
0.99 |
R5688:Atf7
|
UTSW |
15 |
102,459,944 (GRCm39) |
missense |
probably damaging |
1.00 |
R5805:Atf7
|
UTSW |
15 |
102,466,022 (GRCm39) |
splice site |
probably null |
|
R6021:Atf7
|
UTSW |
15 |
102,465,908 (GRCm39) |
missense |
probably benign |
0.20 |
R6259:Atf7
|
UTSW |
15 |
102,455,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R6347:Atf7
|
UTSW |
15 |
102,454,914 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6476:Atf7
|
UTSW |
15 |
102,502,147 (GRCm39) |
missense |
probably benign |
0.13 |
R6794:Atf7
|
UTSW |
15 |
102,465,900 (GRCm39) |
missense |
probably benign |
0.09 |
R7104:Atf7
|
UTSW |
15 |
102,442,670 (GRCm39) |
missense |
probably benign |
0.40 |
R7369:Atf7
|
UTSW |
15 |
102,462,244 (GRCm39) |
missense |
probably damaging |
0.98 |
R8111:Atf7
|
UTSW |
15 |
102,471,769 (GRCm39) |
missense |
probably damaging |
0.96 |
R8244:Atf7
|
UTSW |
15 |
102,437,301 (GRCm39) |
missense |
unknown |
|
R8768:Atf7
|
UTSW |
15 |
102,449,324 (GRCm39) |
missense |
probably benign |
0.06 |
R8785:Atf7
|
UTSW |
15 |
102,454,974 (GRCm39) |
missense |
probably benign |
|
R8811:Atf7
|
UTSW |
15 |
102,502,144 (GRCm39) |
missense |
probably damaging |
0.99 |
R9211:Atf7
|
UTSW |
15 |
102,437,117 (GRCm39) |
missense |
unknown |
|
R9408:Atf7
|
UTSW |
15 |
102,462,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R9446:Atf7
|
UTSW |
15 |
102,459,923 (GRCm39) |
missense |
probably damaging |
0.96 |
R9564:Atf7
|
UTSW |
15 |
102,442,712 (GRCm39) |
missense |
probably benign |
|
X0027:Atf7
|
UTSW |
15 |
102,502,105 (GRCm39) |
critical splice donor site |
probably null |
|
Z1088:Atf7
|
UTSW |
15 |
102,455,617 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
|
Posted On |
2017-05-15 |