Incidental Mutation 'R6064:Atf1'
| ID |
483986 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atf1
|
| Ensembl Gene |
ENSMUSG00000023027 |
| Gene Name |
activating transcription factor 1 |
| Synonyms |
|
| MMRRC Submission |
044228-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6064 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
100125729-100159129 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100150029 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 92
(T92A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132907
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023769]
[ENSMUST00000163855]
[ENSMUST00000165804]
[ENSMUST00000168103]
[ENSMUST00000169408]
[ENSMUST00000171869]
[ENSMUST00000172154]
|
| AlphaFold |
P81269 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023769
AA Change: T92A
PolyPhen 2
Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000023769
Gene: ENSMUSG00000023027
AA Change: T92A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:pKID
|
43 |
83 |
3.9e-21 |
PFAM |
|
BRLZ
|
209 |
266 |
3.28e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163855
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165804
|
| SMART Domains |
Protein: ENSMUSP00000127969
Gene: ENSMUSG00000023027
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:pKID
|
46 |
76 |
1.9e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166435
|
| SMART Domains |
Protein: ENSMUSP00000127985
Gene: ENSMUSG00000023027
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
76 |
92 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168103
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169408
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171869
|
| SMART Domains |
Protein: ENSMUSP00000131278
Gene: ENSMUSG00000023027
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:pKID
|
43 |
67 |
5.2e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172154
AA Change: T92A
PolyPhen 2
Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000132907
Gene: ENSMUSG00000023027
AA Change: T92A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:pKID
|
43 |
83 |
2.5e-20 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene does not result in a phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
C |
T |
5: 50,117,667 (GRCm39) |
D1294N |
probably damaging |
Het |
| Bach1 |
A |
G |
16: 87,526,752 (GRCm39) |
D738G |
probably damaging |
Het |
| Catsper3 |
T |
C |
13: 55,954,065 (GRCm39) |
F278L |
probably damaging |
Het |
| Chsy3 |
GT |
G |
18: 59,309,238 (GRCm39) |
163 |
probably null |
Het |
| Cmya5 |
T |
A |
13: 93,226,157 (GRCm39) |
N2977I |
probably damaging |
Het |
| Cnbd1 |
T |
A |
4: 18,895,084 (GRCm39) |
E219D |
probably benign |
Het |
| Dst |
A |
G |
1: 34,233,132 (GRCm39) |
D3556G |
probably damaging |
Het |
| Duox1 |
A |
G |
2: 122,151,243 (GRCm39) |
E306G |
probably benign |
Het |
| Fstl5 |
T |
A |
3: 76,229,605 (GRCm39) |
F135L |
probably benign |
Het |
| Fyb1 |
A |
C |
15: 6,668,349 (GRCm39) |
K514T |
probably damaging |
Het |
| Gsap |
T |
A |
5: 21,434,223 (GRCm39) |
C280S |
possibly damaging |
Het |
| Lrig1 |
T |
C |
6: 94,603,428 (GRCm39) |
E240G |
probably damaging |
Het |
| Macc1 |
A |
T |
12: 119,409,400 (GRCm39) |
H56L |
probably benign |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Muc6 |
T |
C |
7: 141,234,640 (GRCm39) |
R696G |
probably damaging |
Het |
| Nup210 |
T |
C |
6: 91,032,273 (GRCm39) |
I32V |
probably benign |
Het |
| Or52n2c |
C |
T |
7: 104,574,599 (GRCm39) |
R124H |
probably benign |
Het |
| Or5d16 |
A |
G |
2: 87,773,828 (GRCm39) |
M48T |
probably benign |
Het |
| Or5h17 |
T |
G |
16: 58,820,186 (GRCm39) |
I46S |
probably damaging |
Het |
| Ovch2 |
T |
C |
7: 107,395,779 (GRCm39) |
T80A |
probably damaging |
Het |
| Rad51ap2 |
T |
A |
12: 11,507,418 (GRCm39) |
Y447N |
possibly damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,319,958 (GRCm39) |
T1126A |
probably benign |
Het |
| Scgb1b10 |
T |
C |
7: 31,800,627 (GRCm39) |
L72S |
probably damaging |
Het |
| Slc25a33 |
A |
G |
4: 149,836,921 (GRCm39) |
V141A |
probably benign |
Het |
| Tbx21 |
T |
C |
11: 97,005,737 (GRCm39) |
Y76C |
probably damaging |
Het |
| Tmem235 |
T |
C |
11: 117,753,764 (GRCm39) |
V107A |
possibly damaging |
Het |
| Vnn1 |
G |
T |
10: 23,770,807 (GRCm39) |
A12S |
probably benign |
Het |
| Zfp606 |
T |
G |
7: 12,214,960 (GRCm39) |
W63G |
possibly damaging |
Het |
| Zfp788 |
T |
A |
7: 41,297,878 (GRCm39) |
F119L |
probably benign |
Het |
|
| Other mutations in Atf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01807:Atf1
|
APN |
15 |
100,149,945 (GRCm39) |
splice site |
probably benign |
|
|
IGL02172:Atf1
|
APN |
15 |
100,152,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02718:Atf1
|
APN |
15 |
100,152,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0426:Atf1
|
UTSW |
15 |
100,130,708 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1393:Atf1
|
UTSW |
15 |
100,130,647 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1965:Atf1
|
UTSW |
15 |
100,152,052 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1968:Atf1
|
UTSW |
15 |
100,152,395 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4913:Atf1
|
UTSW |
15 |
100,149,979 (GRCm39) |
splice site |
probably null |
|
|
R5837:Atf1
|
UTSW |
15 |
100,152,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6230:Atf1
|
UTSW |
15 |
100,130,705 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7625:Atf1
|
UTSW |
15 |
100,152,158 (GRCm39) |
splice site |
probably null |
|
|
R8094:Atf1
|
UTSW |
15 |
100,143,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGGCTGGCTTCTTTCTGC -3'
(R):5'- CATCAACTTAAAGTCAGCAACAGTT -3'
Sequencing Primer
(F):5'- GGTCCAGGCTAAGTAATCCTC -3'
(R):5'- GATTTCTGAGTTCAAGGCCAGCC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation