Incidental Mutation 'R4544:Atf7'
| ID |
333695 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atf7
|
| Ensembl Gene |
ENSMUSG00000099083 |
| Gene Name |
activating transcription factor 7 |
| Synonyms |
9430065F09Rik, 1110012F10Rik, C130020M04Rik |
| MMRRC Submission |
041779-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4544 (G1)
|
| Quality Score |
219 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
102434381-102533899 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102442762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 449
(V449A)
|
| 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: V449A
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000139308
Gene: ENSMUSG00000099083
AA Change: V449A
| 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: V449A
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000139181
Gene: ENSMUSG00000099083
AA Change: V449A
| 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 |
|
| Meta Mutation Damage Score |
0.0732 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (58/58) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
A |
C |
13: 4,557,843 (GRCm39) |
V201G |
probably damaging |
Het |
| Alg9 |
C |
T |
9: 50,716,654 (GRCm39) |
T409M |
possibly damaging |
Het |
| C1s1 |
A |
G |
6: 124,508,499 (GRCm39) |
S497P |
probably benign |
Het |
| Ccnyl1 |
G |
T |
1: 64,762,735 (GRCm39) |
M347I |
probably benign |
Het |
| Chil4 |
C |
A |
3: 106,117,922 (GRCm39) |
R116L |
probably damaging |
Het |
| Cmpk2 |
A |
G |
12: 26,528,016 (GRCm39) |
E411G |
probably damaging |
Het |
| Cmya5 |
G |
A |
13: 93,228,426 (GRCm39) |
R2221* |
probably null |
Het |
| Csmd1 |
A |
T |
8: 16,760,652 (GRCm39) |
F161Y |
possibly damaging |
Het |
| Cspg4 |
T |
A |
9: 56,795,913 (GRCm39) |
L1216Q |
possibly damaging |
Het |
| Dppa3 |
A |
G |
6: 122,603,726 (GRCm39) |
|
probably benign |
Het |
| Ednra |
A |
G |
8: 78,401,540 (GRCm39) |
|
probably null |
Het |
| Fancd2 |
A |
G |
6: 113,549,603 (GRCm39) |
|
probably null |
Het |
| Fastkd1 |
C |
T |
2: 69,542,655 (GRCm39) |
E51K |
probably damaging |
Het |
| Fndc1 |
T |
A |
17: 7,992,376 (GRCm39) |
D440V |
unknown |
Het |
| Gm9934 |
A |
G |
7: 92,702,188 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac1-ps |
A |
T |
17: 78,800,388 (GRCm39) |
T460S |
probably benign |
Het |
| Ifi205 |
T |
C |
1: 173,854,139 (GRCm39) |
I171M |
possibly damaging |
Het |
| Ifi213 |
T |
C |
1: 173,409,693 (GRCm39) |
|
probably null |
Het |
| Insig2 |
A |
T |
1: 121,239,921 (GRCm39) |
|
probably benign |
Het |
| Kdm7a |
T |
C |
6: 39,152,406 (GRCm39) |
R97G |
probably benign |
Het |
| Krt23 |
G |
A |
11: 99,369,102 (GRCm39) |
T397M |
probably benign |
Het |
| Lepr |
G |
A |
4: 101,625,425 (GRCm39) |
V527I |
possibly damaging |
Het |
| Lmo2 |
C |
T |
2: 103,806,382 (GRCm39) |
P25L |
probably damaging |
Het |
| Lsr |
C |
T |
7: 30,671,401 (GRCm39) |
V111M |
probably damaging |
Het |
| Mest |
T |
C |
6: 30,740,679 (GRCm39) |
W13R |
probably damaging |
Het |
| Mfn2 |
A |
G |
4: 147,971,909 (GRCm39) |
V224A |
probably benign |
Het |
| Mkx |
T |
C |
18: 7,000,651 (GRCm39) |
Y97C |
probably damaging |
Het |
| Mndal |
A |
T |
1: 173,703,230 (GRCm39) |
Y58* |
probably null |
Het |
| Myo9b |
T |
C |
8: 71,780,585 (GRCm39) |
V494A |
probably damaging |
Het |
| Nek1 |
C |
T |
8: 61,469,338 (GRCm39) |
Q132* |
probably null |
Het |
| Or2a12 |
C |
T |
6: 42,904,348 (GRCm39) |
S61L |
probably damaging |
Het |
| Or6c5 |
A |
C |
10: 129,074,027 (GRCm39) |
N3T |
probably damaging |
Het |
| Osbpl6 |
T |
C |
2: 76,414,836 (GRCm39) |
V409A |
possibly damaging |
Het |
| Pde8a |
A |
T |
7: 80,977,847 (GRCm39) |
R713S |
probably damaging |
Het |
| Pex10 |
T |
C |
4: 155,154,952 (GRCm39) |
Y235H |
probably benign |
Het |
| Pik3cb |
T |
A |
9: 98,921,812 (GRCm39) |
K1050I |
probably damaging |
Het |
| Prss56 |
A |
G |
1: 87,112,364 (GRCm39) |
D85G |
probably damaging |
Het |
| Psg26 |
T |
C |
7: 18,212,464 (GRCm39) |
N297S |
probably damaging |
Het |
| Rdh16f1 |
T |
C |
10: 127,626,706 (GRCm39) |
L253S |
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Slc7a8 |
C |
G |
14: 54,973,247 (GRCm39) |
G240A |
possibly damaging |
Het |
| Slc8b1 |
G |
A |
5: 120,669,218 (GRCm39) |
|
probably null |
Het |
| Sorbs1 |
G |
A |
19: 40,300,294 (GRCm39) |
T575M |
probably damaging |
Het |
| Syne3 |
T |
A |
12: 104,925,728 (GRCm39) |
K313M |
probably damaging |
Het |
| Tas2r108 |
A |
G |
6: 40,470,742 (GRCm39) |
T73A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,652,932 (GRCm39) |
|
probably null |
Het |
| Uba52rt |
C |
T |
4: 3,973,244 (GRCm39) |
R106H |
probably benign |
Het |
| Ubr3 |
G |
A |
2: 69,786,437 (GRCm39) |
M850I |
probably benign |
Het |
| Vmn2r78 |
A |
T |
7: 86,570,399 (GRCm39) |
M306L |
probably benign |
Het |
| Vmn2r9 |
T |
G |
5: 108,995,551 (GRCm39) |
M366L |
probably benign |
Het |
| Zan |
C |
G |
5: 137,382,096 (GRCm39) |
M5150I |
unknown |
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 |
|
R3115:Atf7
|
UTSW |
15 |
102,442,858 (GRCm39) |
missense |
probably benign |
0.10 |
|
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 |
PCR Primer
(F):5'- ACAGGAGGGGTTAAGTTGATCTC -3'
(R):5'- TGCCATTCATGACTCTGGAG -3'
Sequencing Primer
(F):5'- AAGTTGATCTCTCTCTTGGCTCAGG -3'
(R):5'- GACAAAGAAGAGTCCTTTCTGTTCC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation