Incidental Mutation 'R4715:Atf2'
| ID |
353921 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atf2
|
| Ensembl Gene |
ENSMUSG00000027104 |
| Gene Name |
activating transcription factor 2 |
| Synonyms |
mXBP, ATF-2, CRE-BP, D130078H02Rik, Creb2 |
| MMRRC Submission |
041982-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.935)
|
| Stock # |
R4715 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
73646853-73722983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 73653644 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 282
(V282F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055833]
[ENSMUST00000090802]
[ENSMUST00000100009]
[ENSMUST00000112007]
[ENSMUST00000112010]
[ENSMUST00000112016]
[ENSMUST00000112017]
[ENSMUST00000173010]
|
| AlphaFold |
P16951 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055833
AA Change: V380F
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000058521
Gene: ENSMUSG00000027104
AA Change: V380F
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
7 |
31 |
4.4e-2 |
SMART |
|
low complexity region
|
237 |
254 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
316 |
N/A |
INTRINSIC |
|
BRLZ
|
332 |
396 |
3.15e-21 |
SMART |
|
low complexity region
|
437 |
449 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090802
AA Change: V340F
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000088311
Gene: ENSMUSG00000027104
AA Change: V340F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
197 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
260 |
276 |
N/A |
INTRINSIC |
|
BRLZ
|
292 |
356 |
3.15e-21 |
SMART |
|
low complexity region
|
397 |
409 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100009
AA Change: V380F
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097588
Gene: ENSMUSG00000027104
AA Change: V380F
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
7 |
31 |
4.4e-2 |
SMART |
|
low complexity region
|
237 |
254 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
316 |
N/A |
INTRINSIC |
|
BRLZ
|
332 |
396 |
3.15e-21 |
SMART |
|
low complexity region
|
437 |
449 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112007
AA Change: V340F
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000107638
Gene: ENSMUSG00000027104
AA Change: V340F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
197 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
260 |
276 |
N/A |
INTRINSIC |
|
BRLZ
|
292 |
356 |
3.15e-21 |
SMART |
|
low complexity region
|
397 |
409 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112010
AA Change: V340F
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000107641
Gene: ENSMUSG00000027104
AA Change: V340F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
197 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
260 |
276 |
N/A |
INTRINSIC |
|
BRLZ
|
292 |
356 |
3.15e-21 |
SMART |
|
low complexity region
|
397 |
409 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112016
AA Change: V282F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107647
Gene: ENSMUSG00000027104
AA Change: V282F
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
7 |
31 |
4.4e-2 |
SMART |
|
low complexity region
|
139 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
218 |
N/A |
INTRINSIC |
|
BRLZ
|
234 |
298 |
3.15e-21 |
SMART |
|
low complexity region
|
339 |
351 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112017
AA Change: V380F
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107648
Gene: ENSMUSG00000027104
AA Change: V380F
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
7 |
31 |
4.4e-2 |
SMART |
|
low complexity region
|
237 |
254 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
316 |
N/A |
INTRINSIC |
|
BRLZ
|
332 |
396 |
3.15e-21 |
SMART |
|
low complexity region
|
437 |
449 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156455
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143714
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184729
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173010
|
| SMART Domains |
Protein: ENSMUSP00000133632
Gene: ENSMUSG00000027104
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
7 |
31 |
4.4e-2 |
SMART |
|
low complexity region
|
237 |
254 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
316 |
N/A |
INTRINSIC |
|
BRLZ
|
332 |
377 |
1.32e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124737
|
| SMART Domains |
Protein: ENSMUSP00000114828
Gene: ENSMUSG00000027104
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
110 |
N/A |
INTRINSIC |
|
BRLZ
|
126 |
190 |
3.89e-12 |
SMART |
|
| Meta Mutation Damage Score |
0.8991 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
92% (86/93) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions This protein binds to the cAMP-responsive element (CRE), an octameric palindrome. It forms a homodimer or a heterodimer with c-Jun and stimulates CRE-dependent transcription. This protein is also a histone acetyltransferase (HAT) that specifically acetylates histones H2B and H4 in vitro; thus it may represent a class of sequence-specific factors that activate transcription by direct effects on chromatin components. The encoded protein may also be involved in cell's DNA damage response independent of its role in transcriptional regulation. Several alternatively spliced transcript variants have been found for this gene [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous mutation of this gene results in increased postnatal lethality, skeletal development defects, runting, decreased hearing, inner ear and brain abnormalities, hyperactivity, and ataxia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
C |
19: 43,805,321 (GRCm39) |
E725A |
possibly damaging |
Het |
| Abcc5 |
G |
T |
16: 20,217,626 (GRCm39) |
L362I |
probably damaging |
Het |
| Ammecr1l |
C |
T |
18: 31,907,706 (GRCm39) |
R179* |
probably null |
Het |
| Arap2 |
G |
T |
5: 62,906,437 (GRCm39) |
T194K |
probably benign |
Het |
| Atosa |
T |
A |
9: 74,920,250 (GRCm39) |
W799R |
probably damaging |
Het |
| Atp1a1 |
T |
C |
3: 101,499,122 (GRCm39) |
E159G |
possibly damaging |
Het |
| B4galt2 |
T |
C |
4: 117,734,376 (GRCm39) |
S258G |
possibly damaging |
Het |
| Bptf |
G |
T |
11: 106,938,007 (GRCm39) |
H2695N |
probably damaging |
Het |
| Casq2 |
T |
C |
3: 102,017,560 (GRCm39) |
V80A |
probably benign |
Het |
| Cdc42ep3 |
G |
A |
17: 79,642,887 (GRCm39) |
A11V |
probably benign |
Het |
| Cdh4 |
A |
T |
2: 179,422,260 (GRCm39) |
H128L |
probably benign |
Het |
| Cdk5rap1 |
C |
A |
2: 154,203,755 (GRCm39) |
*191L |
probably null |
Het |
| Cfdp1 |
G |
A |
8: 112,557,523 (GRCm39) |
T206I |
probably benign |
Het |
| Cgn |
C |
A |
3: 94,686,748 (GRCm39) |
G185W |
probably damaging |
Het |
| Clpx |
A |
C |
9: 65,219,396 (GRCm39) |
R231S |
possibly damaging |
Het |
| Copg1 |
T |
A |
6: 87,889,268 (GRCm39) |
L870* |
probably null |
Het |
| Cyp4a10 |
A |
T |
4: 115,382,535 (GRCm39) |
D275V |
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,132,240 (GRCm39) |
T504A |
probably benign |
Het |
| Dmxl2 |
A |
C |
9: 54,353,689 (GRCm39) |
|
probably null |
Het |
| Dnaaf5 |
A |
T |
5: 139,163,755 (GRCm39) |
I671F |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,584,788 (GRCm39) |
D3173G |
probably damaging |
Het |
| Dock2 |
T |
C |
11: 34,244,118 (GRCm39) |
Y1074C |
probably damaging |
Het |
| Dthd1 |
A |
C |
5: 63,045,530 (GRCm39) |
M765L |
probably benign |
Het |
| E2f3 |
A |
C |
13: 30,095,258 (GRCm39) |
C220W |
probably damaging |
Het |
| Elf3 |
C |
T |
1: 135,185,490 (GRCm39) |
S8N |
probably damaging |
Het |
| F2rl1 |
A |
T |
13: 95,649,775 (GRCm39) |
V369E |
probably damaging |
Het |
| Fpr-rs7 |
C |
T |
17: 20,333,690 (GRCm39) |
G267R |
probably benign |
Het |
| Ggact |
A |
T |
14: 123,129,047 (GRCm39) |
L56Q |
possibly damaging |
Het |
| Gm5546 |
T |
C |
3: 104,273,824 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8267 |
A |
G |
14: 44,955,292 (GRCm39) |
V243A |
probably benign |
Het |
| Gtf2h1 |
A |
G |
7: 46,464,836 (GRCm39) |
T424A |
possibly damaging |
Het |
| Gucy1b2 |
A |
G |
14: 62,660,466 (GRCm39) |
V140A |
possibly damaging |
Het |
| Htatip2 |
T |
C |
7: 49,420,592 (GRCm39) |
L146P |
probably damaging |
Het |
| Htr1b |
T |
C |
9: 81,513,563 (GRCm39) |
D348G |
possibly damaging |
Het |
| Ifi205 |
T |
C |
1: 173,855,887 (GRCm39) |
I48V |
possibly damaging |
Het |
| Igkv18-36 |
C |
T |
6: 69,969,575 (GRCm39) |
R72K |
probably damaging |
Het |
| Kcnk7 |
T |
C |
19: 5,756,281 (GRCm39) |
L169P |
probably damaging |
Het |
| Klf17 |
T |
C |
4: 117,617,733 (GRCm39) |
D208G |
probably benign |
Het |
| Ltn1 |
A |
G |
16: 87,215,382 (GRCm39) |
F418L |
probably damaging |
Het |
| Map4k4 |
G |
A |
1: 40,058,724 (GRCm39) |
V1040I |
probably damaging |
Het |
| Mark1 |
A |
G |
1: 184,644,329 (GRCm39) |
V445A |
probably benign |
Het |
| Med11 |
T |
C |
11: 70,344,022 (GRCm39) |
I114T |
probably benign |
Het |
| Moxd2 |
A |
G |
6: 40,864,181 (GRCm39) |
V83A |
probably damaging |
Het |
| Mrpl33 |
A |
G |
5: 31,773,702 (GRCm39) |
|
probably benign |
Het |
| Mrps27 |
A |
G |
13: 99,551,323 (GRCm39) |
|
probably null |
Het |
| Nop58 |
T |
C |
1: 59,735,185 (GRCm39) |
V75A |
probably benign |
Het |
| Or13p5 |
T |
C |
4: 118,591,852 (GRCm39) |
L42P |
probably damaging |
Het |
| Or2n1d |
A |
C |
17: 38,646,731 (GRCm39) |
I228L |
possibly damaging |
Het |
| Or2t46 |
A |
G |
11: 58,472,255 (GRCm39) |
D195G |
probably damaging |
Het |
| Or4k42 |
A |
C |
2: 111,320,089 (GRCm39) |
M138R |
probably benign |
Het |
| Or7g19 |
A |
G |
9: 18,856,742 (GRCm39) |
H266R |
probably benign |
Het |
| Or7g26 |
C |
A |
9: 19,230,443 (GRCm39) |
F210L |
probably benign |
Het |
| Pdzd2 |
G |
T |
15: 12,419,602 (GRCm39) |
N263K |
possibly damaging |
Het |
| Podnl1 |
C |
A |
8: 84,852,690 (GRCm39) |
|
probably benign |
Het |
| Prkd3 |
G |
T |
17: 79,259,366 (GRCm39) |
H864N |
possibly damaging |
Het |
| Ptprd |
T |
C |
4: 76,025,570 (GRCm39) |
T543A |
probably benign |
Het |
| Pum2 |
T |
A |
12: 8,797,272 (GRCm39) |
I788N |
probably damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,740,243 (GRCm39) |
N1328I |
probably damaging |
Het |
| Rhoc |
T |
C |
3: 104,701,355 (GRCm39) |
L193P |
probably damaging |
Het |
| Rif1 |
T |
C |
2: 51,963,151 (GRCm39) |
|
probably benign |
Het |
| Rspo2 |
A |
T |
15: 42,939,300 (GRCm39) |
C163* |
probably null |
Het |
| Sco1 |
A |
G |
11: 66,947,425 (GRCm39) |
Y204C |
probably damaging |
Het |
| Shc2 |
T |
C |
10: 79,458,213 (GRCm39) |
K490R |
probably benign |
Het |
| Siglec1 |
T |
C |
2: 130,916,356 (GRCm39) |
D1198G |
probably damaging |
Het |
| Slc25a18 |
T |
C |
6: 120,763,051 (GRCm39) |
V31A |
probably damaging |
Het |
| Smpd5 |
A |
T |
15: 76,179,893 (GRCm39) |
I112L |
probably benign |
Het |
| Synpr |
CT |
C |
14: 13,285,198 (GRCm38) |
|
probably null |
Het |
| Tdrd9 |
T |
G |
12: 112,008,123 (GRCm39) |
S988A |
probably benign |
Het |
| Tiam2 |
T |
A |
17: 3,504,443 (GRCm39) |
F982I |
probably damaging |
Het |
| Tmc3 |
G |
A |
7: 83,271,604 (GRCm39) |
V919I |
probably benign |
Het |
| Tmed2b |
A |
T |
9: 33,639,784 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem200c |
A |
T |
17: 69,147,465 (GRCm39) |
D16V |
probably damaging |
Het |
| Tmem37 |
A |
T |
1: 119,995,935 (GRCm39) |
D47E |
probably damaging |
Het |
| Top3a |
T |
A |
11: 60,633,823 (GRCm39) |
R733* |
probably null |
Het |
| Treh |
T |
C |
9: 44,594,615 (GRCm39) |
V8A |
probably benign |
Het |
| Trim17 |
A |
C |
11: 58,859,276 (GRCm39) |
|
probably benign |
Het |
| Ubash3b |
T |
C |
9: 40,927,896 (GRCm39) |
K471E |
probably damaging |
Het |
| Usp8 |
T |
A |
2: 126,571,142 (GRCm39) |
L144Q |
possibly damaging |
Het |
| Wnk2 |
T |
A |
13: 49,300,708 (GRCm39) |
M1L |
unknown |
Het |
| Yju2b |
A |
G |
8: 84,990,503 (GRCm39) |
I43T |
probably damaging |
Het |
|
| Other mutations in Atf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00886:Atf2
|
APN |
2 |
73,675,847 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01608:Atf2
|
APN |
2 |
73,649,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02112:Atf2
|
APN |
2 |
73,649,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02469:Atf2
|
APN |
2 |
73,676,676 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02686:Atf2
|
APN |
2 |
73,675,844 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03381:Atf2
|
APN |
2 |
73,659,012 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0020:Atf2
|
UTSW |
2 |
73,676,628 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0020:Atf2
|
UTSW |
2 |
73,676,628 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0045:Atf2
|
UTSW |
2 |
73,660,200 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0045:Atf2
|
UTSW |
2 |
73,660,200 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0480:Atf2
|
UTSW |
2 |
73,649,500 (GRCm39) |
splice site |
probably benign |
|
|
R0732:Atf2
|
UTSW |
2 |
73,675,844 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1188:Atf2
|
UTSW |
2 |
73,675,881 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1285:Atf2
|
UTSW |
2 |
73,675,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1287:Atf2
|
UTSW |
2 |
73,675,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1523:Atf2
|
UTSW |
2 |
73,693,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1622:Atf2
|
UTSW |
2 |
73,684,133 (GRCm39) |
splice site |
probably null |
|
|
R1731:Atf2
|
UTSW |
2 |
73,675,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1935:Atf2
|
UTSW |
2 |
73,676,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1939:Atf2
|
UTSW |
2 |
73,676,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1965:Atf2
|
UTSW |
2 |
73,681,242 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2000:Atf2
|
UTSW |
2 |
73,693,584 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2045:Atf2
|
UTSW |
2 |
73,693,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2256:Atf2
|
UTSW |
2 |
73,675,855 (GRCm39) |
splice site |
probably null |
|
|
R3147:Atf2
|
UTSW |
2 |
73,681,283 (GRCm39) |
splice site |
probably null |
|
|
R3890:Atf2
|
UTSW |
2 |
73,693,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4680:Atf2
|
UTSW |
2 |
73,659,025 (GRCm39) |
splice site |
probably null |
|
|
R5161:Atf2
|
UTSW |
2 |
73,660,134 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5853:Atf2
|
UTSW |
2 |
73,658,813 (GRCm39) |
splice site |
probably null |
|
|
R7419:Atf2
|
UTSW |
2 |
73,672,777 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7833:Atf2
|
UTSW |
2 |
73,684,229 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9202:Atf2
|
UTSW |
2 |
73,649,472 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9266:Atf2
|
UTSW |
2 |
73,649,271 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9690:Atf2
|
UTSW |
2 |
73,675,813 (GRCm39) |
missense |
probably benign |
0.26 |
|
X0033:Atf2
|
UTSW |
2 |
73,676,625 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTACTGGTAGCTCAGCTCACTC -3'
(R):5'- AGGCTACCCAGTTATGGTATTC -3'
Sequencing Primer
(F):5'- TAGCTCAGCTCACTCTGGCAG -3'
(R):5'- GGCTACCCAGTTATGGTATTCATATG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation