Incidental Mutation 'R6476:Atf7'
ID |
516814 |
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 # |
R6476 (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 102502147 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 3
(D3G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139054
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108828]
[ENSMUST00000169033]
[ENSMUST00000183452]
[ENSMUST00000183765]
[ENSMUST00000184077]
[ENSMUST00000184485]
[ENSMUST00000184616]
[ENSMUST00000184906]
[ENSMUST00000184772]
[ENSMUST00000185070]
|
AlphaFold |
Q8R0S1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000108828
AA Change: D3G
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000104456 Gene: ENSMUSG00000099083 AA Change: D3G
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
AA Change: D3G
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000130130 Gene: ENSMUSG00000099083 AA Change: D3G
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: D3G
|
SMART Domains |
Protein: ENSMUSP00000139367 Gene: ENSMUSG00000099083 AA Change: D3G
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
AA Change: D3G
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000139054 Gene: ENSMUSG00000099083 AA Change: D3G
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
7 |
31 |
6.32e-3 |
SMART |
low complexity region
|
108 |
130 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183786
|
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 benign
Transcript: ENSMUST00000184485
AA Change: D3G
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000139308 Gene: ENSMUSG00000099083 AA Change: D3G
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: D3G
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000139181 Gene: ENSMUSG00000099083 AA Change: D3G
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
AA Change: D3G
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000139243 Gene: ENSMUSG00000099083 AA Change: D3G
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
AA Change: D3G
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000138975 Gene: ENSMUSG00000052414 AA Change: D3G
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 |
noncoding transcript
Transcript: ENSMUST00000184918
|
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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
a |
T |
C |
2: 154,892,699 (GRCm39) |
V126A |
probably benign |
Het |
Adamts20 |
T |
C |
15: 94,259,691 (GRCm39) |
Q336R |
probably benign |
Het |
Ankrd36 |
A |
G |
11: 5,578,753 (GRCm39) |
T6A |
probably benign |
Het |
Arhgap33 |
A |
G |
7: 30,223,837 (GRCm39) |
S731P |
probably damaging |
Het |
Arhgef10l |
G |
C |
4: 140,338,693 (GRCm39) |
P23R |
probably damaging |
Het |
Caps2 |
A |
G |
10: 112,011,465 (GRCm39) |
T30A |
possibly damaging |
Het |
Ccdc15 |
A |
T |
9: 37,253,715 (GRCm39) |
I191N |
probably benign |
Het |
Cep170 |
A |
T |
1: 176,607,917 (GRCm39) |
S180T |
possibly damaging |
Het |
Chd1 |
G |
A |
17: 17,601,250 (GRCm39) |
|
probably null |
Het |
Col6a3 |
A |
T |
1: 90,709,534 (GRCm39) |
N1887K |
unknown |
Het |
Csgalnact1 |
C |
T |
8: 68,913,761 (GRCm39) |
S148N |
probably damaging |
Het |
Csgalnact1 |
T |
A |
8: 68,913,762 (GRCm39) |
S148C |
probably damaging |
Het |
Dnah14 |
A |
G |
1: 181,572,333 (GRCm39) |
E2888G |
probably benign |
Het |
Dnah7b |
T |
A |
1: 46,281,364 (GRCm39) |
Y2808* |
probably null |
Het |
Dock10 |
A |
C |
1: 80,518,959 (GRCm39) |
L1254* |
probably null |
Het |
Eml2 |
T |
C |
7: 18,930,236 (GRCm39) |
V511A |
probably benign |
Het |
Eml6 |
A |
G |
11: 29,741,971 (GRCm39) |
|
probably null |
Het |
Erbin |
C |
A |
13: 103,977,755 (GRCm39) |
D601Y |
probably damaging |
Het |
Farsa |
A |
G |
8: 85,583,809 (GRCm39) |
E49G |
probably damaging |
Het |
Fzd7 |
A |
G |
1: 59,523,154 (GRCm39) |
M346V |
probably damaging |
Het |
Gatd3a |
T |
C |
10: 78,003,347 (GRCm39) |
N102D |
probably damaging |
Het |
Glg1 |
A |
C |
8: 111,926,806 (GRCm39) |
S170A |
possibly damaging |
Het |
Gpx3 |
A |
T |
11: 54,798,025 (GRCm39) |
I54F |
probably damaging |
Het |
H6pd |
G |
A |
4: 150,067,184 (GRCm39) |
H401Y |
probably damaging |
Het |
Hspb8 |
A |
G |
5: 116,560,457 (GRCm39) |
S28P |
probably damaging |
Het |
Iqub |
T |
A |
6: 24,449,744 (GRCm39) |
N707I |
probably damaging |
Het |
Krt9 |
A |
T |
11: 100,081,640 (GRCm39) |
D296E |
probably damaging |
Het |
Lcor |
C |
T |
19: 41,571,518 (GRCm39) |
T237I |
probably benign |
Het |
Lnx1 |
A |
G |
5: 74,768,541 (GRCm39) |
V349A |
possibly damaging |
Het |
Map3k6 |
A |
T |
4: 132,977,397 (GRCm39) |
S915C |
probably damaging |
Het |
Mecom |
C |
A |
3: 30,034,717 (GRCm39) |
A510S |
possibly damaging |
Het |
Mettl14 |
A |
G |
3: 123,167,686 (GRCm39) |
I224T |
probably damaging |
Het |
Mme |
T |
C |
3: 63,251,056 (GRCm39) |
|
probably null |
Het |
Nbea |
T |
A |
3: 55,912,227 (GRCm39) |
T1187S |
probably benign |
Het |
Ndor1 |
T |
C |
2: 25,138,154 (GRCm39) |
T444A |
possibly damaging |
Het |
Nhlrc1 |
A |
G |
13: 47,167,657 (GRCm39) |
L200P |
possibly damaging |
Het |
Npc1 |
G |
T |
18: 12,334,751 (GRCm39) |
S667* |
probably null |
Het |
Nscme3l |
A |
C |
19: 5,553,253 (GRCm39) |
I176S |
probably damaging |
Het |
Or14a256 |
C |
T |
7: 86,265,218 (GRCm39) |
V212I |
probably benign |
Het |
Or1l8 |
T |
A |
2: 36,817,595 (GRCm39) |
H177L |
possibly damaging |
Het |
Or4c109 |
T |
A |
2: 88,817,721 (GRCm39) |
D275V |
probably benign |
Het |
Or51d1 |
T |
A |
7: 102,348,310 (GRCm39) |
N288K |
possibly damaging |
Het |
Or5g9 |
T |
A |
2: 85,551,928 (GRCm39) |
Y60N |
probably damaging |
Het |
Pds5a |
A |
C |
5: 65,791,630 (GRCm39) |
I773R |
possibly damaging |
Het |
Pgr |
T |
A |
9: 8,964,839 (GRCm39) |
|
probably null |
Het |
Plscr4 |
A |
T |
9: 92,372,819 (GRCm39) |
M314L |
probably benign |
Het |
Polr2m |
A |
G |
9: 71,390,752 (GRCm39) |
V46A |
probably benign |
Het |
Ptk2b |
T |
A |
14: 66,424,923 (GRCm39) |
M174L |
possibly damaging |
Het |
Sec31a |
A |
T |
5: 100,534,008 (GRCm39) |
F521I |
probably benign |
Het |
Serpinb3d |
T |
C |
1: 107,011,071 (GRCm39) |
N47S |
probably benign |
Het |
Shld2 |
T |
C |
14: 33,989,971 (GRCm39) |
S312G |
probably benign |
Het |
Slc24a3 |
T |
A |
2: 145,448,750 (GRCm39) |
D431E |
probably benign |
Het |
Slc34a1 |
C |
A |
13: 23,996,569 (GRCm39) |
H25N |
probably damaging |
Het |
Slc9a9 |
T |
C |
9: 94,567,191 (GRCm39) |
F87L |
probably benign |
Het |
Spata31 |
T |
A |
13: 65,065,456 (GRCm39) |
S54T |
possibly damaging |
Het |
Spata6 |
T |
C |
4: 111,632,020 (GRCm39) |
S144P |
probably damaging |
Het |
Sppl2c |
A |
G |
11: 104,077,595 (GRCm39) |
N132D |
probably benign |
Het |
Ssu2 |
C |
T |
6: 112,351,793 (GRCm39) |
G311S |
probably damaging |
Het |
Syne1 |
T |
A |
10: 5,104,531 (GRCm39) |
Q6328L |
possibly damaging |
Het |
Tie1 |
T |
C |
4: 118,330,062 (GRCm39) |
T1054A |
possibly damaging |
Het |
Tnfaip6 |
T |
G |
2: 51,942,328 (GRCm39) |
D212E |
probably benign |
Het |
Tnxb |
A |
G |
17: 34,909,166 (GRCm39) |
T1442A |
probably damaging |
Het |
Trim35 |
C |
T |
14: 66,546,244 (GRCm39) |
T337M |
probably damaging |
Het |
Vipr1 |
T |
C |
9: 121,498,489 (GRCm39) |
V413A |
probably benign |
Het |
Vmn1r19 |
C |
G |
6: 57,381,578 (GRCm39) |
Q44E |
probably damaging |
Het |
Zfp1002 |
T |
C |
2: 150,097,246 (GRCm39) |
D61G |
probably benign |
Het |
Zfp266 |
G |
T |
9: 20,410,577 (GRCm39) |
H533Q |
probably damaging |
Het |
Zfp689 |
T |
C |
7: 127,043,896 (GRCm39) |
S245G |
probably 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 |
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 |
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'- AGCAAGGCAGATTTCATTACAGTG -3'
(R):5'- GGGTCTTACCAAAGTAGCCTG -3'
Sequencing Primer
(F):5'- TCATTACAGTGGAGTGCCTAC -3'
(R):5'- GTCTTACCAAAGTAGCCTGTGTTTAC -3'
|
Posted On |
2018-05-21 |