Incidental Mutation 'R5688:Atf7'
| ID |
443532 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atf7
|
| Ensembl Gene |
ENSMUSG00000099083 |
| Gene Name |
activating transcription factor 7 |
| Synonyms |
9430065F09Rik, 1110012F10Rik, C130020M04Rik |
| MMRRC Submission |
043321-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5688 (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 102459944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 57
(R57H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108828]
[ENSMUST00000169033]
[ENSMUST00000183452]
[ENSMUST00000183765]
[ENSMUST00000184077]
[ENSMUST00000184485]
[ENSMUST00000185070]
[ENSMUST00000184616]
[ENSMUST00000184772]
[ENSMUST00000184906]
|
| AlphaFold |
Q8R0S1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108828
AA Change: R152H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104456
Gene: ENSMUSG00000099083
AA Change: R152H
| 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: R152H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000130130
Gene: ENSMUSG00000099083
AA Change: R152H
| 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 damaging
Transcript: ENSMUST00000183765
AA Change: R152H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139054
Gene: ENSMUSG00000099083
AA Change: R152H
| 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 damaging
Transcript: ENSMUST00000184077
AA Change: R57H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139217
Gene: ENSMUSG00000099083
AA Change: R57H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
35 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184485
AA Change: R152H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139308
Gene: ENSMUSG00000099083
AA Change: R152H
| 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: ENSMUST00000185070
AA Change: R57H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139379
Gene: ENSMUSG00000099083
AA Change: R57H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
35 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184616
AA Change: R152H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139181
Gene: ENSMUSG00000099083
AA Change: R152H
| 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: R152H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000138975
Gene: ENSMUSG00000052414
AA Change: R152H
| 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: R152H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000139243
Gene: ENSMUSG00000099083
AA Change: R152H
| 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: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp7 |
G |
A |
7: 28,315,920 (GRCm39) |
A222V |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,979,883 (GRCm39) |
D389G |
probably benign |
Het |
| Aldh1l2 |
A |
T |
10: 83,337,789 (GRCm39) |
S559T |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,576,877 (GRCm39) |
N144K |
possibly damaging |
Het |
| Anp32b |
T |
A |
4: 46,469,868 (GRCm39) |
|
probably null |
Het |
| Atp10b |
A |
T |
11: 43,092,000 (GRCm39) |
H345L |
probably benign |
Het |
| Cacna2d1 |
A |
T |
5: 16,563,950 (GRCm39) |
I859F |
probably damaging |
Het |
| Calcr |
T |
A |
6: 3,714,730 (GRCm39) |
|
probably null |
Het |
| Cd248 |
A |
G |
19: 5,119,963 (GRCm39) |
T604A |
probably benign |
Het |
| Cemip |
C |
T |
7: 83,610,849 (GRCm39) |
V702M |
probably damaging |
Het |
| Cep295 |
G |
T |
9: 15,243,282 (GRCm39) |
Q469K |
probably damaging |
Het |
| Cntn5 |
A |
G |
9: 9,748,427 (GRCm39) |
W485R |
probably damaging |
Het |
| Cpe |
T |
C |
8: 65,062,189 (GRCm39) |
N289S |
possibly damaging |
Het |
| Cyp2j11 |
G |
A |
4: 96,233,358 (GRCm39) |
R113C |
probably damaging |
Het |
| Dcp1b |
T |
C |
6: 119,194,872 (GRCm39) |
S531P |
probably benign |
Het |
| Defb7 |
T |
G |
8: 19,545,167 (GRCm39) |
L15R |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Ednrb |
T |
C |
14: 104,060,831 (GRCm39) |
D198G |
probably damaging |
Het |
| Engase |
A |
C |
11: 118,378,146 (GRCm39) |
E312A |
possibly damaging |
Het |
| Evl |
G |
A |
12: 108,639,612 (GRCm39) |
|
probably null |
Het |
| Faf1 |
C |
A |
4: 109,652,010 (GRCm39) |
Q234K |
probably damaging |
Het |
| Garre1 |
T |
A |
7: 33,953,416 (GRCm39) |
T449S |
possibly damaging |
Het |
| Garre1 |
T |
G |
7: 33,984,134 (GRCm39) |
D163A |
probably damaging |
Het |
| Gm5460 |
C |
A |
14: 33,767,752 (GRCm39) |
N453K |
possibly damaging |
Het |
| Gm7356 |
T |
A |
17: 14,220,869 (GRCm39) |
I387F |
possibly damaging |
Het |
| H1f2 |
A |
G |
13: 23,923,148 (GRCm39) |
K106R |
probably damaging |
Het |
| Hagh |
T |
C |
17: 25,069,568 (GRCm39) |
M1T |
probably null |
Het |
| Hars1 |
A |
T |
18: 36,905,369 (GRCm39) |
V155E |
probably damaging |
Het |
| Lca5 |
C |
A |
9: 83,280,619 (GRCm39) |
D394Y |
probably benign |
Het |
| Lmtk3 |
T |
C |
7: 45,440,834 (GRCm39) |
L280P |
probably damaging |
Het |
| Lrit1 |
C |
T |
14: 36,784,385 (GRCm39) |
A571V |
possibly damaging |
Het |
| Map4k2 |
C |
A |
19: 6,396,836 (GRCm39) |
P584H |
probably damaging |
Het |
| Mgst1 |
T |
C |
6: 138,118,798 (GRCm39) |
|
probably benign |
Het |
| Mtrex |
A |
T |
13: 113,009,590 (GRCm39) |
C936* |
probably null |
Het |
| Neb |
C |
T |
2: 52,086,339 (GRCm39) |
V5245I |
probably damaging |
Het |
| Oas3 |
T |
C |
5: 120,896,867 (GRCm39) |
N918S |
probably benign |
Het |
| Or4c106 |
C |
T |
2: 88,683,023 (GRCm39) |
T243I |
probably benign |
Het |
| Or5d16 |
T |
A |
2: 87,773,552 (GRCm39) |
Q140L |
probably benign |
Het |
| Or8b8 |
A |
C |
9: 37,809,359 (GRCm39) |
I220L |
possibly damaging |
Het |
| Ovch2 |
A |
G |
7: 107,393,201 (GRCm39) |
L224P |
probably damaging |
Het |
| Patj |
A |
T |
4: 98,409,047 (GRCm39) |
K34* |
probably null |
Het |
| Pcf11 |
T |
A |
7: 92,308,016 (GRCm39) |
R717S |
possibly damaging |
Het |
| Plcb1 |
A |
T |
2: 135,177,400 (GRCm39) |
E577D |
probably benign |
Het |
| Plxnb2 |
T |
C |
15: 89,042,899 (GRCm39) |
K1497E |
probably damaging |
Het |
| Pyroxd1 |
C |
A |
6: 142,299,266 (GRCm39) |
L141I |
probably damaging |
Het |
| Rhobtb3 |
G |
T |
13: 76,020,537 (GRCm39) |
N588K |
probably benign |
Het |
| Rnasel |
G |
A |
1: 153,629,452 (GRCm39) |
|
probably benign |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Shank1 |
A |
T |
7: 44,003,911 (GRCm39) |
I1868F |
possibly damaging |
Het |
| Slc28a3 |
A |
T |
13: 58,706,463 (GRCm39) |
S593T |
probably damaging |
Het |
| Slc29a4 |
T |
C |
5: 142,699,853 (GRCm39) |
I168T |
possibly damaging |
Het |
| Slc35f5 |
C |
T |
1: 125,518,775 (GRCm39) |
P502L |
probably benign |
Het |
| Slco6d1 |
T |
C |
1: 98,408,493 (GRCm39) |
I463T |
probably damaging |
Het |
| Slk |
A |
G |
19: 47,608,451 (GRCm39) |
D468G |
probably benign |
Het |
| Spata31d1d |
G |
T |
13: 59,874,322 (GRCm39) |
P1071Q |
probably damaging |
Het |
| Tert |
G |
A |
13: 73,787,275 (GRCm39) |
V754I |
probably damaging |
Het |
| Thada |
T |
C |
17: 84,759,155 (GRCm39) |
T235A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,564,472 (GRCm39) |
D28555G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,710,328 (GRCm39) |
|
probably null |
Het |
| Ubqln4 |
T |
C |
3: 88,472,575 (GRCm39) |
L464P |
probably damaging |
Het |
| Unc45b |
A |
T |
11: 82,813,643 (GRCm39) |
N350I |
possibly damaging |
Het |
| Vmn2r65 |
T |
C |
7: 84,589,900 (GRCm39) |
D672G |
probably benign |
Het |
| Zfp947 |
T |
A |
17: 22,365,066 (GRCm39) |
I203L |
probably benign |
Het |
| Zfp964 |
T |
A |
8: 70,116,766 (GRCm39) |
H454Q |
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 |
|
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'- GTGCACACACTCACAGGAAG -3'
(R):5'- ATTCCTGCTGAACGGATGAGG -3'
Sequencing Primer
(F):5'- TCACAGGAAGCCACACCTATAC -3'
(R):5'- CCTGCTGAACGGATGAGGTATGG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation