Incidental Mutation 'R8811:Atf7'
| ID |
672436 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atf7
|
| Ensembl Gene |
ENSMUSG00000099083 |
| Gene Name |
activating transcription factor 7 |
| Synonyms |
9430065F09Rik, 1110012F10Rik, C130020M04Rik |
| MMRRC Submission |
068646-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8811 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
102434381-102533899 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102502144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 4
(D4G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108828]
[ENSMUST00000169033]
[ENSMUST00000183452]
[ENSMUST00000183765]
[ENSMUST00000184077]
[ENSMUST00000184485]
[ENSMUST00000184616]
[ENSMUST00000184772]
[ENSMUST00000184906]
[ENSMUST00000185070]
|
| AlphaFold |
Q8R0S1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108828
AA Change: D4G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104456
Gene: ENSMUSG00000099083
AA Change: D4G
| 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 damaging
Transcript: ENSMUST00000169033
AA Change: D4G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000130130
Gene: ENSMUSG00000099083
AA Change: D4G
| 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 |
unknown
Transcript: ENSMUST00000183452
AA Change: D4G
|
| SMART Domains |
Protein: ENSMUSP00000139367
Gene: ENSMUSG00000099083
AA Change: D4G
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
7 |
31 |
6.32e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183765
AA Change: D4G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000139054
Gene: ENSMUSG00000099083
AA Change: D4G
| 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 |
probably damaging
Transcript: ENSMUST00000184485
AA Change: D4G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139308
Gene: ENSMUSG00000099083
AA Change: D4G
| 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 damaging
Transcript: ENSMUST00000184616
AA Change: D4G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139181
Gene: ENSMUSG00000099083
AA Change: D4G
| 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 damaging
Transcript: ENSMUST00000184772
AA Change: D4G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000138975
Gene: ENSMUSG00000052414
AA Change: D4G
| 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 damaging
Transcript: ENSMUST00000184906
AA Change: D4G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000139243
Gene: ENSMUSG00000099083
AA Change: D4G
| 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 |
|
| Meta Mutation Damage Score |
0.1799 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (54/54) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
G |
17: 24,536,212 (GRCm39) |
K485T |
probably benign |
Het |
| Abcc12 |
G |
T |
8: 87,280,023 (GRCm39) |
L337M |
probably damaging |
Het |
| Adcy4 |
T |
C |
14: 56,010,221 (GRCm39) |
D687G |
probably benign |
Het |
| Aldoc |
T |
A |
11: 78,215,610 (GRCm39) |
I98N |
probably damaging |
Het |
| Aoah |
T |
A |
13: 21,184,121 (GRCm39) |
V395D |
probably damaging |
Het |
| Arap1 |
C |
T |
7: 101,036,403 (GRCm39) |
R397W |
probably damaging |
Het |
| Arl16 |
A |
T |
11: 120,357,526 (GRCm39) |
M63K |
probably damaging |
Het |
| Atp6v0d2 |
A |
T |
4: 19,922,397 (GRCm39) |
V34D |
probably benign |
Het |
| Calhm4 |
T |
A |
10: 33,917,661 (GRCm39) |
K263N |
probably benign |
Het |
| Camk1g |
C |
G |
1: 193,044,408 (GRCm39) |
G2A |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 134,929,001 (GRCm39) |
T302A |
probably damaging |
Het |
| Cps1 |
T |
C |
1: 67,253,246 (GRCm39) |
V1246A |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,560,139 (GRCm39) |
D1397G |
|
Het |
| Ddx39b |
T |
A |
17: 35,463,435 (GRCm39) |
S115T |
probably benign |
Het |
| Dnaja3 |
C |
A |
16: 4,514,383 (GRCm39) |
T305K |
probably benign |
Het |
| Dusp7 |
C |
G |
9: 106,248,241 (GRCm39) |
H290D |
probably benign |
Het |
| Emilin2 |
T |
A |
17: 71,582,282 (GRCm39) |
D148V |
possibly damaging |
Het |
| Erbin |
C |
T |
13: 104,022,824 (GRCm39) |
R5Q |
probably damaging |
Het |
| Fam3b |
T |
C |
16: 97,313,715 (GRCm39) |
|
probably benign |
Het |
| Foxn3 |
T |
C |
12: 99,162,951 (GRCm39) |
S317G |
probably benign |
Het |
| Gipc1 |
T |
A |
8: 84,388,919 (GRCm39) |
M177K |
possibly damaging |
Het |
| Grpel2 |
A |
C |
18: 61,851,823 (GRCm39) |
|
probably benign |
Het |
| Htr1a |
G |
C |
13: 105,581,101 (GRCm39) |
A114P |
probably damaging |
Het |
| Iqch |
A |
T |
9: 63,452,195 (GRCm39) |
M210K |
possibly damaging |
Het |
| Kdelr3 |
T |
C |
15: 79,410,052 (GRCm39) |
I179T |
possibly damaging |
Het |
| Lat2 |
C |
T |
5: 134,635,553 (GRCm39) |
|
probably benign |
Het |
| Mcrip1 |
A |
G |
11: 120,435,605 (GRCm39) |
V10A |
probably damaging |
Het |
| Mib1 |
C |
T |
18: 10,755,643 (GRCm39) |
L350F |
probably benign |
Het |
| Nhlrc2 |
T |
A |
19: 56,583,344 (GRCm39) |
V605E |
probably benign |
Het |
| Nup133 |
AAGAGA |
AAGA |
8: 124,638,627 (GRCm39) |
900 |
probably null |
Het |
| Nutm2 |
A |
T |
13: 50,623,989 (GRCm39) |
I229F |
probably benign |
Het |
| Or6f1 |
G |
A |
7: 85,970,989 (GRCm39) |
T57M |
probably damaging |
Het |
| Phkb |
T |
C |
8: 86,745,156 (GRCm39) |
V611A |
possibly damaging |
Het |
| Polg2 |
A |
T |
11: 106,670,208 (GRCm39) |
Y21N |
probably benign |
Het |
| Prss28 |
T |
A |
17: 25,528,627 (GRCm39) |
I23N |
probably benign |
Het |
| Ptprz1 |
G |
A |
6: 23,030,661 (GRCm39) |
V1856I |
probably benign |
Het |
| Slc22a22 |
A |
T |
15: 57,108,237 (GRCm39) |
I526N |
probably damaging |
Het |
| Slc24a4 |
T |
C |
12: 102,180,133 (GRCm39) |
F68S |
probably damaging |
Het |
| Slc37a3 |
A |
G |
6: 39,322,274 (GRCm39) |
S377P |
probably damaging |
Het |
| Smoc2 |
T |
C |
17: 14,545,896 (GRCm39) |
S62P |
probably damaging |
Het |
| Sox4 |
A |
G |
13: 29,136,911 (GRCm39) |
S32P |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,689,541 (GRCm39) |
Q426L |
|
Het |
| Synrg |
T |
G |
11: 83,910,410 (GRCm39) |
S937A |
probably benign |
Het |
| Tbr1 |
C |
A |
2: 61,642,196 (GRCm39) |
T487K |
possibly damaging |
Het |
| Tll2 |
T |
C |
19: 41,195,012 (GRCm39) |
T25A |
probably benign |
Het |
| Trim31 |
T |
C |
17: 37,210,875 (GRCm39) |
F169S |
probably benign |
Het |
| Tro |
G |
A |
X: 149,438,555 (GRCm39) |
S34L |
unknown |
Het |
| Tspear |
T |
C |
10: 77,665,463 (GRCm39) |
F83S |
probably benign |
Het |
| Ubr5 |
C |
A |
15: 38,041,123 (GRCm39) |
A254S |
|
Het |
| Ubtfl1 |
A |
G |
9: 18,321,459 (GRCm39) |
E329G |
probably benign |
Het |
| Vmn2r45 |
A |
G |
7: 8,474,881 (GRCm39) |
W716R |
probably damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,799,895 (GRCm39) |
M448V |
probably damaging |
Het |
| Wwc2 |
T |
G |
8: 48,336,579 (GRCm39) |
I228L |
possibly damaging |
Het |
| Zbtb20 |
T |
C |
16: 43,430,857 (GRCm39) |
V383A |
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 |
|
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 |
|
|
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'- AGCAAGGCAGATTTCATTACAGTG -3'
(R):5'- GGGTCTTACCAAAGTAGCCTG -3'
Sequencing Primer
(F):5'- TCATTACAGTGGAGTGCCTAC -3'
(R):5'- GTCTTACCAAAGTAGCCTGTGTTTAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation