Incidental Mutation 'R6347:Atf7'
| ID |
520075 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atf7
|
| Ensembl Gene |
ENSMUSG00000099083 |
| Gene Name |
activating transcription factor 7 |
| Synonyms |
9430065F09Rik, 1110012F10Rik, C130020M04Rik |
| MMRRC Submission |
044501-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6347 (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 A
at 102454914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 285
(M285L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108828]
[ENSMUST00000169033]
[ENSMUST00000183452]
[ENSMUST00000183765]
[ENSMUST00000184077]
[ENSMUST00000184485]
[ENSMUST00000184616]
[ENSMUST00000184906]
[ENSMUST00000184772]
[ENSMUST00000185070]
|
| AlphaFold |
Q8R0S1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108828
AA Change: M285L
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104456
Gene: ENSMUSG00000099083
AA Change: M285L
| 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 |
possibly damaging
Transcript: ENSMUST00000169033
AA Change: M285L
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000130130
Gene: ENSMUSG00000099083
AA Change: M285L
| 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 benign
Transcript: ENSMUST00000183765
|
| SMART Domains |
Protein: ENSMUSP00000139054
Gene: ENSMUSG00000099083
| 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 |
possibly damaging
Transcript: ENSMUST00000184485
AA Change: M285L
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000139308
Gene: ENSMUSG00000099083
AA Change: M285L
| 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 |
possibly damaging
Transcript: ENSMUST00000184616
AA Change: M285L
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000139181
Gene: ENSMUSG00000099083
AA Change: M285L
| 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 |
possibly damaging
Transcript: ENSMUST00000184906
AA Change: M285L
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139243
Gene: ENSMUSG00000099083
AA Change: M285L
| 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 |
possibly damaging
Transcript: ENSMUST00000184772
AA Change: M285L
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000138975
Gene: ENSMUSG00000052414
AA Change: M285L
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.6%
- 20x: 92.3%
|
| Validation Efficiency |
95% (41/43) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atat1 |
A |
G |
17: 36,220,921 (GRCm39) |
F3L |
probably damaging |
Het |
| Bcl7b |
T |
C |
5: 135,209,387 (GRCm39) |
S95P |
possibly damaging |
Het |
| Cald1 |
A |
C |
6: 34,741,981 (GRCm39) |
K453Q |
probably damaging |
Het |
| Cimip1 |
G |
T |
2: 173,369,708 (GRCm39) |
R74L |
possibly damaging |
Het |
| Cog4 |
A |
T |
8: 111,607,275 (GRCm39) |
I580F |
probably damaging |
Het |
| Cpq |
T |
A |
15: 33,290,332 (GRCm39) |
|
probably null |
Het |
| Csf2rb |
G |
A |
15: 78,229,752 (GRCm39) |
D440N |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,218,765 (GRCm39) |
|
probably null |
Het |
| Eif2b3 |
T |
C |
4: 116,901,763 (GRCm39) |
V142A |
probably benign |
Het |
| Fat3 |
A |
T |
9: 15,909,668 (GRCm39) |
N2111K |
probably damaging |
Het |
| Fbxo31 |
C |
A |
8: 122,305,198 (GRCm39) |
E99D |
possibly damaging |
Het |
| Fgfr2 |
T |
C |
7: 129,863,487 (GRCm39) |
E34G |
probably damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,794,194 (GRCm39) |
V190A |
possibly damaging |
Het |
| Herc2 |
T |
C |
7: 55,844,151 (GRCm39) |
|
probably null |
Het |
| Igkv3-2 |
A |
C |
6: 70,676,017 (GRCm39) |
M109L |
probably benign |
Het |
| Il36rn |
G |
A |
2: 24,169,726 (GRCm39) |
A29T |
probably damaging |
Het |
| Kif13b |
C |
T |
14: 65,005,068 (GRCm39) |
T1120I |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,515,833 (GRCm39) |
I2670T |
possibly damaging |
Het |
| Lcp2 |
A |
G |
11: 34,032,501 (GRCm39) |
M360V |
probably benign |
Het |
| Ldlrad4 |
A |
G |
18: 68,368,851 (GRCm39) |
S103G |
probably benign |
Het |
| Loxl4 |
T |
C |
19: 42,596,709 (GRCm39) |
K88E |
probably damaging |
Het |
| Ltbp2 |
C |
A |
12: 84,900,686 (GRCm39) |
R192L |
probably damaging |
Het |
| Mast2 |
C |
A |
4: 116,174,929 (GRCm39) |
G475V |
probably damaging |
Het |
| Meis1 |
A |
C |
11: 18,855,631 (GRCm39) |
|
probably null |
Het |
| Mroh3 |
T |
C |
1: 136,128,675 (GRCm39) |
|
probably null |
Het |
| Myo5b |
C |
T |
18: 74,903,456 (GRCm39) |
A1824V |
probably benign |
Het |
| Nectin3 |
C |
T |
16: 46,278,487 (GRCm39) |
V303M |
probably benign |
Het |
| Or5p52 |
T |
C |
7: 107,502,157 (GRCm39) |
S78P |
possibly damaging |
Het |
| Peak1 |
T |
C |
9: 56,165,495 (GRCm39) |
N811S |
probably benign |
Het |
| Pik3ca |
C |
T |
3: 32,516,970 (GRCm39) |
A1066V |
probably benign |
Het |
| Rnf103 |
A |
G |
6: 71,482,808 (GRCm39) |
T153A |
possibly damaging |
Het |
| Sacs |
G |
A |
14: 61,448,609 (GRCm39) |
V3552I |
probably damaging |
Het |
| Sgca |
A |
T |
11: 94,862,854 (GRCm39) |
N109K |
probably damaging |
Het |
| Speg |
T |
A |
1: 75,403,519 (GRCm39) |
M2621K |
probably benign |
Het |
| Stfa2l1 |
T |
C |
16: 35,977,271 (GRCm39) |
I22T |
probably damaging |
Het |
| Tbpl2 |
G |
A |
2: 23,984,715 (GRCm39) |
P144L |
probably benign |
Het |
| Tmem219 |
T |
C |
7: 126,495,998 (GRCm39) |
N119S |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,643,084 (GRCm39) |
T4149A |
probably benign |
Het |
| Wdr46 |
C |
A |
17: 34,160,826 (GRCm39) |
P197T |
probably damaging |
Het |
| Wee2 |
C |
T |
6: 40,432,039 (GRCm39) |
R203C |
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 |
|
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'- ATAGCTGGTTACCCCAAAAGC -3'
(R):5'- ATCCAGGTGGGCACTTTTC -3'
Sequencing Primer
(F):5'- GGTTACCCCAAAAGCTAAATTTATTC -3'
(R):5'- GTTCCCTGTTAAGAAAAACTTGGGGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation