Incidental Mutation 'R3115:Atf7'
| ID |
477947 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atf7
|
| Ensembl Gene |
ENSMUSG00000099083 |
| Gene Name |
activating transcription factor 7 |
| Synonyms |
9430065F09Rik, 1110012F10Rik, C130020M04Rik |
| MMRRC Submission |
040588-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3115 (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: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
96% (47/49) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
G |
8: 87,266,653 (GRCm39) |
|
probably null |
Het |
| Abcc9 |
T |
C |
6: 142,634,755 (GRCm39) |
T170A |
probably benign |
Het |
| Agbl2 |
T |
C |
2: 90,636,245 (GRCm39) |
S594P |
possibly damaging |
Het |
| Aoc1l3 |
A |
G |
6: 48,964,331 (GRCm39) |
Y113C |
probably damaging |
Het |
| Cacng7 |
T |
C |
7: 3,387,450 (GRCm39) |
V111A |
probably benign |
Het |
| Chrm4 |
A |
G |
2: 91,757,705 (GRCm39) |
T38A |
probably benign |
Het |
| Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
| Dcx |
A |
G |
X: 142,706,105 (GRCm39) |
Y229H |
probably damaging |
Het |
| Espl1 |
T |
A |
15: 102,231,639 (GRCm39) |
F1945Y |
possibly damaging |
Het |
| Glul |
T |
C |
1: 153,783,038 (GRCm39) |
F204L |
possibly damaging |
Het |
| Grm2 |
A |
G |
9: 106,524,822 (GRCm39) |
V631A |
probably damaging |
Het |
| Ifi205 |
T |
A |
1: 173,855,901 (GRCm39) |
Y43F |
possibly damaging |
Het |
| Irs3 |
A |
G |
5: 137,642,118 (GRCm39) |
L440P |
probably benign |
Het |
| Itpr1 |
A |
G |
6: 108,383,070 (GRCm39) |
D1466G |
possibly damaging |
Het |
| Jarid2 |
T |
C |
13: 45,049,942 (GRCm39) |
S257P |
probably damaging |
Het |
| Knl1 |
C |
A |
2: 118,900,872 (GRCm39) |
L858M |
possibly damaging |
Het |
| Krt24 |
T |
A |
11: 99,173,262 (GRCm39) |
T298S |
possibly damaging |
Het |
| Lrriq1 |
C |
T |
10: 103,006,294 (GRCm39) |
R1277Q |
probably benign |
Het |
| Mgp |
A |
C |
6: 136,849,683 (GRCm39) |
Y92D |
probably damaging |
Het |
| Micu3 |
A |
G |
8: 40,835,208 (GRCm39) |
H521R |
probably benign |
Het |
| Mier3 |
T |
A |
13: 111,843,182 (GRCm39) |
I178N |
probably damaging |
Het |
| Moxd1 |
G |
T |
10: 24,177,429 (GRCm39) |
E582* |
probably null |
Het |
| Mprip |
T |
A |
11: 59,656,229 (GRCm39) |
|
probably null |
Het |
| Mybph |
A |
G |
1: 134,122,476 (GRCm39) |
I174V |
probably benign |
Het |
| Mynn |
C |
T |
3: 30,661,959 (GRCm39) |
T347M |
probably damaging |
Het |
| Nhsl1 |
A |
T |
10: 18,400,916 (GRCm39) |
Q714L |
probably damaging |
Het |
| Nr1d2 |
A |
T |
14: 18,215,504 (GRCm38) |
|
probably null |
Het |
| Or10g3 |
T |
C |
14: 52,610,397 (GRCm39) |
T38A |
probably damaging |
Het |
| Or2a5 |
T |
C |
6: 42,873,784 (GRCm39) |
V133A |
probably benign |
Het |
| Or52h9 |
C |
A |
7: 104,202,295 (GRCm39) |
H56Q |
probably benign |
Het |
| Or5p61 |
T |
C |
7: 107,759,029 (GRCm39) |
E17G |
probably benign |
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 |
| Phactr2 |
C |
A |
10: 13,137,645 (GRCm39) |
E166* |
probably null |
Het |
| Prdx4 |
C |
T |
X: 154,113,407 (GRCm39) |
R167Q |
probably damaging |
Het |
| Prkdc |
C |
T |
16: 15,482,222 (GRCm39) |
L422F |
probably benign |
Het |
| Prph |
T |
A |
15: 98,953,337 (GRCm39) |
F84I |
probably damaging |
Het |
| Rnmt |
A |
G |
18: 68,447,079 (GRCm39) |
E321G |
probably benign |
Het |
| Serpinb13 |
A |
T |
1: 106,910,568 (GRCm39) |
E64V |
probably null |
Het |
| Slc12a4 |
A |
T |
8: 106,686,091 (GRCm39) |
S81T |
probably damaging |
Het |
| Slc47a1 |
A |
G |
11: 61,258,506 (GRCm39) |
L179P |
possibly damaging |
Het |
| Sp140l2 |
C |
G |
1: 85,235,106 (GRCm39) |
|
probably benign |
Het |
| Spata31e5 |
A |
C |
1: 28,815,410 (GRCm39) |
V874G |
possibly damaging |
Het |
| Sycp2l |
C |
A |
13: 41,302,274 (GRCm39) |
T456K |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,914,193 (GRCm39) |
L2447P |
probably damaging |
Het |
| Tll1 |
A |
G |
8: 64,506,900 (GRCm39) |
C614R |
probably damaging |
Het |
| Usp5 |
T |
C |
6: 124,792,560 (GRCm39) |
Y826C |
probably damaging |
Het |
| Vmn2r71 |
A |
C |
7: 85,272,866 (GRCm39) |
D560A |
probably damaging |
Het |
| Wdr91 |
A |
G |
6: 34,882,522 (GRCm39) |
L209P |
probably damaging |
Het |
| Zfp511 |
T |
A |
7: 139,616,504 (GRCm39) |
D46E |
probably benign |
Het |
| Zfp81 |
C |
T |
17: 33,553,537 (GRCm39) |
A426T |
possibly damaging |
Het |
| Zscan22 |
T |
C |
7: 12,641,217 (GRCm39) |
I328T |
probably benign |
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 |
|
|
R3114: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 |
Incidental Mutation