Incidental Mutation 'R2183:Atf7'
| ID |
237313 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atf7
|
| Ensembl Gene |
ENSMUSG00000099083 |
| Gene Name |
activating transcription factor 7 |
| Synonyms |
9430065F09Rik, 1110012F10Rik, C130020M04Rik |
| MMRRC Submission |
040185-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2183 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
102434381-102533899 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102454908 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 287
(T287A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108828]
[ENSMUST00000169033]
[ENSMUST00000183452]
[ENSMUST00000183765]
[ENSMUST00000184077]
[ENSMUST00000184485]
[ENSMUST00000184616]
[ENSMUST00000184906]
[ENSMUST00000184772]
[ENSMUST00000185070]
|
| AlphaFold |
Q8R0S1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108828
AA Change: T287A
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104456
Gene: ENSMUSG00000099083
AA Change: T287A
| 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 |
possibly damaging
Transcript: ENSMUST00000169033
AA Change: T287A
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130130
Gene: ENSMUSG00000099083
AA Change: T287A
| 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: ENSMUST00000183452
|
| SMART Domains |
Protein: ENSMUSP00000139367
Gene: ENSMUSG00000099083
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
7 |
31 |
6.32e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183727
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183765
|
| SMART Domains |
Protein: ENSMUSP00000139054
Gene: ENSMUSG00000099083
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
7 |
31 |
6.32e-3 |
SMART |
|
low complexity region
|
108 |
130 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184077
|
| SMART Domains |
Protein: ENSMUSP00000139217
Gene: ENSMUSG00000099083
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
35 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184485
AA Change: T287A
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139308
Gene: ENSMUSG00000099083
AA Change: T287A
| 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 |
possibly damaging
Transcript: ENSMUST00000184616
AA Change: T287A
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139181
Gene: ENSMUSG00000099083
AA Change: T287A
| 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 |
possibly damaging
Transcript: ENSMUST00000184906
AA Change: T287A
PolyPhen 2
Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139243
Gene: ENSMUSG00000099083
AA Change: T287A
| 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 |
possibly damaging
Transcript: ENSMUST00000184772
AA Change: T287A
PolyPhen 2
Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000138975
Gene: ENSMUSG00000052414
AA Change: T287A
| 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: ENSMUST00000185070
|
| SMART Domains |
Protein: ENSMUSP00000139379
Gene: ENSMUSG00000099083
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
35 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg9b |
C |
T |
5: 24,595,491 (GRCm39) |
A263T |
probably benign |
Het |
| Cc2d1a |
A |
T |
8: 84,867,028 (GRCm39) |
H371Q |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,875,581 (GRCm39) |
N537S |
possibly damaging |
Het |
| Cdc6 |
A |
T |
11: 98,799,524 (GRCm39) |
K17* |
probably null |
Het |
| Cemip2 |
G |
A |
19: 21,801,157 (GRCm39) |
R758Q |
possibly damaging |
Het |
| Cenpk |
T |
C |
13: 104,370,671 (GRCm39) |
M64T |
probably damaging |
Het |
| Dhx57 |
T |
A |
17: 80,582,760 (GRCm39) |
T282S |
probably benign |
Het |
| Frem1 |
G |
A |
4: 82,909,732 (GRCm39) |
T757I |
probably benign |
Het |
| Gcsh |
A |
T |
8: 117,715,885 (GRCm39) |
V66E |
probably damaging |
Het |
| Gdpd1 |
T |
C |
11: 86,926,102 (GRCm39) |
N281S |
probably damaging |
Het |
| Hs1bp3 |
T |
C |
12: 8,371,610 (GRCm39) |
V97A |
possibly damaging |
Het |
| Ipo11 |
T |
C |
13: 107,061,595 (GRCm39) |
T22A |
probably benign |
Het |
| Irag1 |
A |
T |
7: 110,498,189 (GRCm39) |
L402Q |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,098,004 (GRCm39) |
N1795D |
probably damaging |
Het |
| Larp4 |
T |
C |
15: 99,909,778 (GRCm39) |
V627A |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,660,462 (GRCm39) |
C41R |
probably damaging |
Het |
| Mroh2b |
T |
A |
15: 4,947,707 (GRCm39) |
|
probably null |
Het |
| Nebl |
T |
C |
2: 17,409,027 (GRCm39) |
D357G |
probably damaging |
Het |
| Nrg2 |
T |
C |
18: 36,329,804 (GRCm39) |
K137R |
probably benign |
Het |
| Or14c43 |
T |
A |
7: 86,115,594 (GRCm39) |
V325E |
probably benign |
Het |
| Or1j14 |
C |
T |
2: 36,417,723 (GRCm39) |
Q100* |
probably null |
Het |
| Or5t7 |
A |
T |
2: 86,507,380 (GRCm39) |
M99K |
probably benign |
Het |
| Phc1 |
C |
A |
6: 122,300,284 (GRCm39) |
V487L |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,239,345 (GRCm39) |
V745A |
probably damaging |
Het |
| Proca1 |
A |
T |
11: 78,094,975 (GRCm39) |
H83L |
possibly damaging |
Het |
| Prpf4 |
G |
A |
4: 62,330,046 (GRCm39) |
V107I |
probably damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,002,284 (GRCm39) |
R1458Q |
probably benign |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rbsn |
C |
A |
6: 92,166,618 (GRCm39) |
L675F |
probably benign |
Het |
| Recql5 |
T |
C |
11: 115,787,613 (GRCm39) |
S514G |
probably benign |
Het |
| Scai |
G |
A |
2: 38,970,138 (GRCm39) |
T542I |
probably benign |
Het |
| Sftpa1 |
G |
T |
14: 40,854,823 (GRCm39) |
D73Y |
probably damaging |
Het |
| Sgms2 |
A |
C |
3: 131,129,934 (GRCm39) |
|
probably null |
Het |
| Spart |
A |
G |
3: 55,024,554 (GRCm39) |
I50V |
probably benign |
Het |
| Spata7 |
A |
T |
12: 98,603,871 (GRCm39) |
K47N |
probably damaging |
Het |
| Tbx18 |
T |
A |
9: 87,587,789 (GRCm39) |
T443S |
probably damaging |
Het |
| Tmem130 |
T |
C |
5: 144,692,242 (GRCm39) |
D54G |
possibly damaging |
Het |
| Tnip2 |
TCTCCT |
TCT |
5: 34,656,957 (GRCm39) |
|
probably benign |
Het |
| Trp53rkb |
G |
T |
2: 166,635,877 (GRCm39) |
V73L |
possibly damaging |
Het |
| Wwc2 |
A |
T |
8: 48,295,961 (GRCm39) |
L1103H |
unknown |
Het |
| Yes1 |
T |
A |
5: 32,802,370 (GRCm39) |
V95E |
probably damaging |
Het |
| Zfp971 |
T |
A |
2: 177,675,533 (GRCm39) |
H377Q |
probably damaging |
Het |
| Zzef1 |
C |
T |
11: 72,777,544 (GRCm39) |
R1792* |
probably null |
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 |
|
|
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 |
|
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'- AATAGCTGGTTACCCCAAAAGC -3'
(R):5'- TCCAGGTGGGCACTTTTCTC -3'
Sequencing Primer
(F):5'- GGTTACCCCAAAAGCTAAATTTATTC -3'
(R):5'- GTTCCCTGTTAAGAAAAACTTGGGGC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation