Incidental Mutation 'R4545:Atf7'
ID |
333735 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atf7
|
Ensembl Gene |
ENSMUSG00000099083 |
Gene Name |
activating transcription factor 7 |
Synonyms |
9430065F09Rik, 1110012F10Rik, C130020M04Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4545 (G1)
|
Quality Score |
225 |
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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
98% (41/42) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c20 |
A |
C |
13: 4,557,843 (GRCm39) |
V201G |
probably damaging |
Het |
Ccr1 |
G |
A |
9: 123,764,437 (GRCm39) |
A31V |
probably benign |
Het |
Chrna6 |
A |
T |
8: 27,896,711 (GRCm39) |
S389T |
probably benign |
Het |
Clic6 |
C |
T |
16: 92,289,045 (GRCm39) |
|
probably benign |
Het |
Cmya5 |
G |
A |
13: 93,228,426 (GRCm39) |
R2221* |
probably null |
Het |
Coq8b |
G |
T |
7: 26,932,930 (GRCm39) |
C13F |
probably benign |
Het |
Cspg4 |
T |
A |
9: 56,795,913 (GRCm39) |
L1216Q |
possibly damaging |
Het |
Decr1 |
C |
A |
4: 15,930,979 (GRCm39) |
V118F |
probably damaging |
Het |
Dlec1 |
A |
T |
9: 118,957,146 (GRCm39) |
I796F |
probably damaging |
Het |
Dnajc11 |
T |
A |
4: 152,064,398 (GRCm39) |
D516E |
probably damaging |
Het |
Dock8 |
G |
A |
19: 25,165,722 (GRCm39) |
V1869M |
probably damaging |
Het |
Dst |
A |
G |
1: 34,227,819 (GRCm39) |
D1982G |
probably damaging |
Het |
Gnptab |
G |
A |
10: 88,250,457 (GRCm39) |
D190N |
probably benign |
Het |
Golga4 |
A |
G |
9: 118,385,913 (GRCm39) |
K22E |
probably damaging |
Het |
Hecw2 |
T |
C |
1: 53,852,381 (GRCm39) |
*1579W |
probably null |
Het |
Ica1l |
A |
G |
1: 60,052,977 (GRCm39) |
|
probably null |
Het |
Ift122 |
T |
A |
6: 115,867,549 (GRCm39) |
L433Q |
probably damaging |
Het |
Iqgap1 |
T |
C |
7: 80,412,315 (GRCm39) |
|
probably null |
Het |
Klra13-ps |
T |
C |
6: 130,268,232 (GRCm39) |
|
noncoding transcript |
Het |
Mndal |
A |
T |
1: 173,703,230 (GRCm39) |
Y58* |
probably null |
Het |
Mvb12b |
G |
C |
2: 33,717,712 (GRCm39) |
P172R |
possibly damaging |
Het |
Ncapg |
T |
C |
5: 45,828,554 (GRCm39) |
F102L |
probably damaging |
Het |
Or1e30 |
T |
C |
11: 73,677,992 (GRCm39) |
V76A |
probably damaging |
Het |
Or5an11 |
T |
C |
19: 12,246,188 (GRCm39) |
V198A |
possibly damaging |
Het |
Or5b97 |
T |
A |
19: 12,878,632 (GRCm39) |
K171* |
probably null |
Het |
Pde8a |
A |
T |
7: 80,977,847 (GRCm39) |
R713S |
probably damaging |
Het |
Rbks |
T |
C |
5: 31,781,912 (GRCm39) |
N296S |
probably benign |
Het |
Sema3c |
G |
A |
5: 17,899,770 (GRCm39) |
V421I |
probably benign |
Het |
Tm9sf1 |
A |
G |
14: 55,875,565 (GRCm39) |
V393A |
possibly damaging |
Het |
Tubgcp2 |
G |
A |
7: 139,575,984 (GRCm39) |
P893L |
possibly damaging |
Het |
Uba52rt |
C |
T |
4: 3,973,244 (GRCm39) |
R106H |
probably benign |
Het |
Vnn3 |
G |
A |
10: 23,732,224 (GRCm39) |
R158H |
probably benign |
Het |
Zfa-ps |
G |
T |
10: 52,421,032 (GRCm39) |
|
noncoding transcript |
Het |
Zfp414 |
T |
C |
17: 33,850,622 (GRCm39) |
|
probably benign |
Het |
Zfp810 |
G |
A |
9: 22,190,041 (GRCm39) |
T289I |
probably damaging |
Het |
Zfp819 |
G |
T |
7: 43,267,209 (GRCm39) |
R488L |
probably damaging |
Het |
Zfp942 |
C |
T |
17: 22,147,285 (GRCm39) |
G448D |
probably benign |
Het |
Zscan12 |
A |
G |
13: 21,550,875 (GRCm39) |
K165E |
possibly 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 |
|
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 |
R4544: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'- CCATTCTGCCCAATTCCAAG -3'
(R):5'- TGACAAAGAAGAGTCCTTTCTGTTC -3'
Sequencing Primer
(F):5'- ACAGGAGGGGTTAAGTTGATCTCTC -3'
(R):5'- AAAGAAGAGTCCTTTCTGTTCCTCTG -3'
|
Posted On |
2015-08-18 |