Incidental Mutation 'R9446:Atf7'
| ID |
713964 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atf7
|
| Ensembl Gene |
ENSMUSG00000099083 |
| Gene Name |
activating transcription factor 7 |
| Synonyms |
9430065F09Rik, 1110012F10Rik, C130020M04Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9446 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
102434381-102533899 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102459923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 159
(H159R)
|
| 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: H159R
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104456
Gene: ENSMUSG00000099083
AA Change: H159R
| 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: H159R
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130130
Gene: ENSMUSG00000099083
AA Change: H159R
| 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 |
probably damaging
Transcript: ENSMUST00000183765
AA Change: H159R
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139054
Gene: ENSMUSG00000099083
AA Change: H159R
| 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: H64R
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139217
Gene: ENSMUSG00000099083
AA Change: H64R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
35 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184485
AA Change: H159R
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139308
Gene: ENSMUSG00000099083
AA Change: H159R
| 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: H159R
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139181
Gene: ENSMUSG00000099083
AA Change: H159R
| 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: H159R
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138975
Gene: ENSMUSG00000052414
AA Change: H159R
| 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: H159R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139243
Gene: ENSMUSG00000099083
AA Change: H159R
| 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: H64R
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139379
Gene: ENSMUSG00000099083
AA Change: H64R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
35 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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 |
|---|
| Adal |
T |
G |
2: 120,976,530 (GRCm39) |
I90S |
probably null |
Het |
| Adck2 |
G |
T |
6: 39,551,221 (GRCm39) |
|
probably benign |
Het |
| Adgrf3 |
G |
T |
5: 30,401,957 (GRCm39) |
D690E |
probably benign |
Het |
| Aff3 |
C |
T |
1: 38,574,337 (GRCm39) |
G175S |
probably benign |
Het |
| BB014433 |
GGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCAGGTTGGGGGCTCTGCACACAGCTTTGGAGGTGTACACACCGGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGGGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCAGGTTGGGGGCTCTGCACACAGCTTTGGAGGTGTACACACCGGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
GGGTTGGGGGCTCTGCACACAGCTTTGGAGGTGTACACACCGGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGGGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCAGGTTGGGGGCTCTGCACACAGCTTTGGAGGTGTACACACCGGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
8: 15,091,810 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,925,491 (GRCm39) |
K2241R |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,045,362 (GRCm39) |
E1670G |
probably benign |
Het |
| Clca4b |
C |
T |
3: 144,638,134 (GRCm39) |
A43T |
probably benign |
Het |
| Clock |
T |
A |
5: 76,396,288 (GRCm39) |
I154L |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,823,677 (GRCm39) |
D566V |
probably damaging |
Het |
| Eml1 |
T |
C |
12: 108,481,465 (GRCm39) |
W443R |
probably damaging |
Het |
| Ghitm |
A |
G |
14: 36,853,606 (GRCm39) |
I78T |
possibly damaging |
Het |
| Gm4181 |
A |
T |
14: 51,873,062 (GRCm39) |
M1K |
probably null |
Het |
| Gm9195 |
T |
C |
14: 72,717,957 (GRCm39) |
Y187C |
probably damaging |
Het |
| Htt |
A |
G |
5: 34,919,272 (GRCm39) |
M8V |
probably benign |
Het |
| Ighv1-9 |
T |
C |
12: 114,547,388 (GRCm39) |
Y51C |
probably benign |
Het |
| Kif13b |
G |
A |
14: 64,984,470 (GRCm39) |
E636K |
probably damaging |
Het |
| Mamdc4 |
T |
A |
2: 25,453,645 (GRCm39) |
M1179L |
probably benign |
Het |
| Map3k4 |
G |
A |
17: 12,451,375 (GRCm39) |
A1506V |
probably damaging |
Het |
| Mbtd1 |
T |
C |
11: 93,834,508 (GRCm39) |
S622P |
unknown |
Het |
| Med13l |
T |
A |
5: 118,876,567 (GRCm39) |
D914E |
probably benign |
Het |
| Mettl9 |
T |
A |
7: 120,675,531 (GRCm39) |
D310E |
possibly damaging |
Het |
| Myh13 |
T |
G |
11: 67,255,325 (GRCm39) |
V1565G |
probably benign |
Het |
| Nrf1 |
A |
G |
6: 30,090,019 (GRCm39) |
T33A |
probably damaging |
Het |
| Oas1d |
A |
G |
5: 121,054,947 (GRCm39) |
K173R |
probably benign |
Het |
| Or12e10 |
A |
T |
2: 87,640,199 (GRCm39) |
M12L |
probably benign |
Het |
| Or1e34 |
T |
A |
11: 73,778,530 (GRCm39) |
T223S |
probably benign |
Het |
| Or4k6 |
A |
G |
14: 50,475,974 (GRCm39) |
Y123H |
probably damaging |
Het |
| Or8g54 |
A |
T |
9: 39,707,342 (GRCm39) |
S224C |
probably damaging |
Het |
| Pde6a |
T |
A |
18: 61,419,067 (GRCm39) |
D814E |
probably benign |
Het |
| Pilrb2 |
T |
C |
5: 137,869,429 (GRCm39) |
D57G |
possibly damaging |
Het |
| Psg21 |
T |
A |
7: 18,388,865 (GRCm39) |
T76S |
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,754,808 (GRCm39) |
V1161A |
probably damaging |
Het |
| Rtl1 |
C |
G |
12: 109,556,604 (GRCm39) |
*1745S |
probably null |
Het |
| Samd8 |
T |
C |
14: 21,833,769 (GRCm39) |
C296R |
|
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Sfmbt1 |
T |
C |
14: 30,506,697 (GRCm39) |
I247T |
possibly damaging |
Het |
| Smarca4 |
G |
A |
9: 21,547,155 (GRCm39) |
A227T |
unknown |
Het |
| Trmt6 |
G |
A |
2: 132,650,774 (GRCm39) |
S278L |
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,815,462 (GRCm39) |
S1183P |
possibly damaging |
Het |
| Trpm7 |
T |
A |
2: 126,672,185 (GRCm39) |
|
probably null |
Het |
| Wnt10a |
C |
A |
1: 74,842,728 (GRCm39) |
F401L |
possibly damaging |
Het |
| Zfp970 |
A |
T |
2: 177,167,064 (GRCm39) |
K213* |
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 |
|
|
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 |
|
|
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 |
|
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'- CTGAACAGACAGCTCTCCTTATAC -3'
(R):5'- CCTGCTGAACGGATGAGGTATG -3'
Sequencing Primer
(F):5'- GAAGGCACCTGTACTTATGTGCAC -3'
(R):5'- ATATGATTGTGATGGAATTGGGTCAC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation