Incidental Mutation 'R7104:Atf7'
| ID |
551079 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atf7
|
| Ensembl Gene |
ENSMUSG00000099083 |
| Gene Name |
activating transcription factor 7 |
| Synonyms |
9430065F09Rik, 1110012F10Rik, C130020M04Rik |
| MMRRC Submission |
045196-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7104 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
102434381-102533899 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102442670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 480
(S480P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108828]
[ENSMUST00000169033]
[ENSMUST00000184485]
[ENSMUST00000184616]
[ENSMUST00000184772]
[ENSMUST00000184906]
|
| AlphaFold |
Q8R0S1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108828
|
| SMART Domains |
Protein: ENSMUSP00000104456
Gene: ENSMUSG00000099083
| 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
|
| SMART Domains |
Protein: ENSMUSP00000130130
Gene: ENSMUSG00000099083
| 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: ENSMUST00000184485
AA Change: S480P
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139308
Gene: ENSMUSG00000099083
AA Change: S480P
| 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: S480P
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139181
Gene: ENSMUSG00000099083
AA Change: S480P
| 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
|
| SMART Domains |
Protein: ENSMUSP00000138975
Gene: ENSMUSG00000052414
| 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
|
| SMART Domains |
Protein: ENSMUSP00000139243
Gene: ENSMUSG00000099083
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl2 |
A |
G |
2: 90,627,891 (GRCm39) |
E232G |
probably damaging |
Het |
| Cdk14 |
A |
G |
5: 5,245,325 (GRCm39) |
I166T |
possibly damaging |
Het |
| Cdk5rap2 |
G |
T |
4: 70,267,393 (GRCm39) |
F358L |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,223,928 (GRCm39) |
L897P |
possibly damaging |
Het |
| Cytip |
A |
G |
2: 58,049,986 (GRCm39) |
S28P |
probably benign |
Het |
| Dennd5b |
C |
T |
6: 148,946,102 (GRCm39) |
R503Q |
probably damaging |
Het |
| Dnajc10 |
T |
A |
2: 80,171,159 (GRCm39) |
C480S |
probably damaging |
Het |
| Drc7 |
A |
G |
8: 95,785,711 (GRCm39) |
D189G |
probably damaging |
Het |
| Engase |
G |
A |
11: 118,372,121 (GRCm39) |
V138M |
probably damaging |
Het |
| Esyt3 |
C |
A |
9: 99,220,840 (GRCm39) |
R121L |
probably damaging |
Het |
| Frem1 |
T |
G |
4: 82,858,918 (GRCm39) |
I1516L |
probably benign |
Het |
| Gatad2b |
T |
A |
3: 90,258,724 (GRCm39) |
I249N |
probably damaging |
Het |
| Grk6 |
T |
C |
13: 55,602,219 (GRCm39) |
S383P |
probably benign |
Het |
| Hectd1 |
C |
T |
12: 51,874,134 (GRCm39) |
|
probably null |
Het |
| Hipk2 |
A |
G |
6: 38,795,579 (GRCm39) |
L230P |
probably damaging |
Het |
| Hivep1 |
A |
T |
13: 42,310,814 (GRCm39) |
Q1018L |
probably benign |
Het |
| Itgad |
T |
C |
7: 127,797,550 (GRCm39) |
F927S |
probably benign |
Het |
| Itgb3bp |
A |
G |
4: 99,702,335 (GRCm39) |
V3A |
probably damaging |
Het |
| Kcnh7 |
G |
T |
2: 62,618,031 (GRCm39) |
A486D |
possibly damaging |
Het |
| Krt1c |
T |
C |
15: 101,723,522 (GRCm39) |
T318A |
probably benign |
Het |
| Ndrg1 |
A |
G |
15: 66,818,377 (GRCm39) |
F77S |
probably damaging |
Het |
| Nlrp4c |
T |
A |
7: 6,068,708 (GRCm39) |
L203* |
probably null |
Het |
| Nos1 |
T |
A |
5: 118,085,496 (GRCm39) |
C1275S |
probably damaging |
Het |
| Or14a256 |
T |
C |
7: 86,264,900 (GRCm39) |
S318G |
probably null |
Het |
| Or4a69 |
A |
G |
2: 89,313,458 (GRCm39) |
V7A |
possibly damaging |
Het |
| Or5an9 |
T |
C |
19: 12,187,242 (GRCm39) |
I104T |
possibly damaging |
Het |
| Or5d39 |
T |
C |
2: 87,979,716 (GRCm39) |
T216A |
possibly damaging |
Het |
| Or5j3 |
T |
A |
2: 86,128,564 (GRCm39) |
S135T |
probably benign |
Het |
| Or8b12b |
A |
T |
9: 37,684,437 (GRCm39) |
N161Y |
possibly damaging |
Het |
| Pip4k2b |
T |
C |
11: 97,623,542 (GRCm39) |
M67V |
possibly damaging |
Het |
| Polq |
C |
A |
16: 36,909,715 (GRCm39) |
Y2366* |
probably null |
Het |
| Prg3 |
T |
C |
2: 84,819,097 (GRCm39) |
S8P |
probably benign |
Het |
| Prl7c1 |
A |
T |
13: 27,962,952 (GRCm39) |
L17* |
probably null |
Het |
| Prl8a8 |
A |
T |
13: 27,695,479 (GRCm39) |
S51R |
probably damaging |
Het |
| Pttg1 |
G |
C |
11: 43,311,976 (GRCm39) |
P160A |
probably benign |
Het |
| Rbfox1 |
C |
A |
16: 7,170,867 (GRCm39) |
R276S |
possibly damaging |
Het |
| Rnase2a |
T |
G |
14: 51,492,988 (GRCm39) |
M126L |
probably benign |
Het |
| Secisbp2 |
A |
T |
13: 51,810,943 (GRCm39) |
K202* |
probably null |
Het |
| Sema6c |
A |
G |
3: 95,076,156 (GRCm39) |
H236R |
possibly damaging |
Het |
| Septin12 |
A |
G |
16: 4,809,857 (GRCm39) |
L181P |
probably damaging |
Het |
| Shc3 |
A |
T |
13: 51,585,241 (GRCm39) |
V458D |
possibly damaging |
Het |
| Tecta |
A |
G |
9: 42,278,239 (GRCm39) |
Y1090H |
probably benign |
Het |
| Thsd7a |
A |
T |
6: 12,379,429 (GRCm39) |
N998K |
|
Het |
| Tmem131l |
A |
T |
3: 83,826,766 (GRCm39) |
S1184T |
possibly damaging |
Het |
| Tnfsf15 |
T |
C |
4: 63,647,887 (GRCm39) |
D251G |
probably damaging |
Het |
| Ttyh3 |
T |
C |
5: 140,615,540 (GRCm39) |
E348G |
probably benign |
Het |
| Unc5c |
T |
C |
3: 141,439,665 (GRCm39) |
L186P |
probably damaging |
Het |
| Vmn2r37 |
A |
T |
7: 9,219,045 (GRCm39) |
N446K |
probably damaging |
Het |
| Vmn2r63 |
T |
C |
7: 42,577,959 (GRCm39) |
D193G |
possibly damaging |
Het |
| Vmn2r85 |
A |
T |
10: 130,262,376 (GRCm39) |
M121K |
probably benign |
Het |
| Vmn2r88 |
A |
G |
14: 51,651,253 (GRCm39) |
D189G |
|
Het |
| Vwc2l |
C |
A |
1: 70,768,252 (GRCm39) |
C105* |
probably null |
Het |
| Wdr72 |
T |
A |
9: 74,055,597 (GRCm39) |
D275E |
probably damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,467,549 (GRCm39) |
D2594V |
probably damaging |
Het |
| Zfp174 |
C |
T |
16: 3,672,269 (GRCm39) |
H273Y |
probably benign |
Het |
| Zwilch |
A |
G |
9: 64,068,658 (GRCm39) |
S203P |
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 |
|
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 |
|
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'- GCTCAGACCATATGGAAAGGC -3'
(R):5'- TCCCAAGGAAAGCTCAGAGC -3'
Sequencing Primer
(F):5'- CTCAGACCATATGGAAAGGCCTTTG -3'
(R):5'- AAGCTCAGAGCCAACGGGTTC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation