Incidental Mutation 'R6790:Atf5'
| ID |
532552 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atf5
|
| Ensembl Gene |
ENSMUSG00000038539 |
| Gene Name |
activating transcription factor 5 |
| Synonyms |
Atf7, ODA-10, Atfx, AFTA |
| MMRRC Submission |
044903-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.504)
|
| Stock # |
R6790 (G1)
|
| Quality Score |
177.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44461680-44466082 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 44462679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047356]
[ENSMUST00000057195]
[ENSMUST00000107893]
[ENSMUST00000118125]
[ENSMUST00000207103]
[ENSMUST00000208172]
[ENSMUST00000208626]
[ENSMUST00000209072]
[ENSMUST00000209072]
[ENSMUST00000209072]
[ENSMUST00000209072]
|
| AlphaFold |
O70191 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047356
AA Change: F148L
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000047771
Gene: ENSMUSG00000038539
AA Change: F148L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
98 |
N/A |
INTRINSIC |
|
SCOP:d1dnpa2
|
116 |
158 |
9e-3 |
SMART |
|
low complexity region
|
177 |
206 |
N/A |
INTRINSIC |
|
BRLZ
|
207 |
271 |
4.93e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057195
|
| SMART Domains |
Protein: ENSMUSP00000056785
Gene: ENSMUSG00000109511
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
166 |
N/A |
INTRINSIC |
|
low complexity region
|
199 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
262 |
296 |
N/A |
INTRINSIC |
|
Pfam:Nsp1_C
|
317 |
433 |
2.3e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107893
AA Change: F148L
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000103525
Gene: ENSMUSG00000038539
AA Change: F148L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
98 |
N/A |
INTRINSIC |
|
SCOP:d1dnpa2
|
116 |
158 |
9e-3 |
SMART |
|
low complexity region
|
177 |
206 |
N/A |
INTRINSIC |
|
BRLZ
|
207 |
271 |
4.93e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118125
|
| SMART Domains |
Protein: ENSMUSP00000113726
Gene: ENSMUSG00000074141
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:AlaDh_PNT_C
|
47 |
111 |
6.6e-9 |
PFAM |
|
Pfam:Pyr_redox_2
|
47 |
111 |
2e-9 |
PFAM |
|
Pfam:HI0933_like
|
67 |
169 |
1.8e-8 |
PFAM |
|
Pfam:FAD_binding_2
|
68 |
108 |
5e-8 |
PFAM |
|
Pfam:Pyr_redox
|
68 |
109 |
8.5e-8 |
PFAM |
|
Pfam:DAO
|
68 |
159 |
5.6e-8 |
PFAM |
|
Pfam:NAD_binding_8
|
71 |
138 |
1.2e-15 |
PFAM |
|
Pfam:Amino_oxidase
|
76 |
511 |
5.9e-84 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207103
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208172
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208626
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000209072
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000209072
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000209072
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000209072
|
| Meta Mutation Damage Score |
0.0922 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial neonatal and postnatal lethality, absence of gastric milk in some mice, decreased body weight in mice that survive and loss of mature olfactory sensory neurons with increased apoptosis in olfactory epithelium. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap3 |
T |
A |
4: 155,987,448 (GRCm39) |
S457T |
probably damaging |
Het |
| Adgrf3 |
A |
G |
5: 30,401,385 (GRCm39) |
V881A |
probably benign |
Het |
| Ankrd65 |
T |
G |
4: 155,877,260 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
A |
G |
10: 50,521,808 (GRCm39) |
E441G |
probably damaging |
Het |
| Cfap97 |
G |
T |
8: 46,623,113 (GRCm39) |
V168L |
possibly damaging |
Het |
| Crh |
T |
G |
3: 19,748,459 (GRCm39) |
E61A |
probably damaging |
Het |
| Cx3cr1 |
C |
T |
9: 119,880,833 (GRCm39) |
V190M |
probably damaging |
Het |
| Cyp3a59 |
A |
C |
5: 146,033,143 (GRCm39) |
M172L |
probably benign |
Het |
| Dnm1 |
T |
C |
2: 32,223,079 (GRCm39) |
K445R |
probably damaging |
Het |
| Eng |
C |
A |
2: 32,559,457 (GRCm39) |
T82N |
probably damaging |
Het |
| Fkbp15 |
T |
C |
4: 62,222,996 (GRCm39) |
T968A |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,821,283 (GRCm39) |
N5672S |
possibly damaging |
Het |
| Gm21149 |
A |
C |
5: 15,677,103 (GRCm39) |
D250E |
unknown |
Het |
| Gon4l |
A |
G |
3: 88,766,305 (GRCm39) |
E448G |
probably damaging |
Het |
| Hrnr |
T |
C |
3: 93,236,382 (GRCm39) |
S2207P |
unknown |
Het |
| Itga4 |
C |
A |
2: 79,155,958 (GRCm39) |
H975N |
probably benign |
Het |
| Kdm4c |
A |
G |
4: 74,309,698 (GRCm39) |
K954E |
probably damaging |
Het |
| Lrrc20 |
G |
T |
10: 61,362,898 (GRCm39) |
V48F |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,754,235 (GRCm39) |
I915V |
probably damaging |
Het |
| Npc1l1 |
C |
T |
11: 6,164,260 (GRCm39) |
|
probably null |
Het |
| Nup50l |
T |
C |
6: 96,142,304 (GRCm39) |
T247A |
probably benign |
Het |
| Or3a1b |
T |
A |
11: 74,012,427 (GRCm39) |
L104H |
probably damaging |
Het |
| Pate13 |
G |
T |
9: 35,820,127 (GRCm39) |
|
probably benign |
Het |
| Per2 |
C |
T |
1: 91,373,261 (GRCm39) |
V176I |
probably benign |
Het |
| Pira2 |
A |
C |
7: 3,845,442 (GRCm39) |
V314G |
probably damaging |
Het |
| Potefam3e |
A |
T |
8: 19,779,801 (GRCm39) |
I14F |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,507,278 (GRCm39) |
D624G |
probably damaging |
Het |
| Secisbp2 |
A |
G |
13: 51,824,939 (GRCm39) |
T396A |
probably benign |
Het |
| Slc28a3 |
T |
C |
13: 58,730,464 (GRCm39) |
D84G |
probably benign |
Het |
| Slc8a3 |
T |
C |
12: 81,361,206 (GRCm39) |
T538A |
probably benign |
Het |
| Slk |
T |
A |
19: 47,624,007 (GRCm39) |
C991S |
probably damaging |
Het |
| Stmn1 |
T |
C |
4: 134,198,125 (GRCm39) |
L54S |
probably damaging |
Het |
| Tuft1 |
C |
G |
3: 94,535,537 (GRCm39) |
E128D |
possibly damaging |
Het |
| Ugt8a |
T |
C |
3: 125,665,340 (GRCm39) |
T386A |
possibly damaging |
Het |
| Zdhhc20 |
A |
G |
14: 58,127,600 (GRCm39) |
V13A |
probably benign |
Het |
|
| Other mutations in Atf5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01534:Atf5
|
APN |
7 |
44,462,462 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01990:Atf5
|
APN |
7 |
44,462,473 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0418:Atf5
|
UTSW |
7 |
44,462,821 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1709:Atf5
|
UTSW |
7 |
44,462,707 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4041:Atf5
|
UTSW |
7 |
44,462,921 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5260:Atf5
|
UTSW |
7 |
44,464,510 (GRCm39) |
nonsense |
probably null |
|
|
R7406:Atf5
|
UTSW |
7 |
44,462,380 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7421:Atf5
|
UTSW |
7 |
44,464,562 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGCTGACTTATTCTGGTCTC -3'
(R):5'- CTGATTGGATGACTGAGCGG -3'
Sequencing Primer
(F):5'- CTCGTGTGCTGGCAGGACTAG -3'
(R):5'- ACTGAGCGGGTGGACTTCAC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation