Incidental Mutation 'IGL02978:Ate1'
| ID |
406469 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ate1
|
| Ensembl Gene |
ENSMUSG00000030850 |
| Gene Name |
arginyltransferase 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02978
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
129993223-130122099 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 129996470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033139]
[ENSMUST00000035458]
[ENSMUST00000094017]
[ENSMUST00000124096]
[ENSMUST00000178534]
[ENSMUST00000216011]
|
| AlphaFold |
Q9Z2A5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033139
|
| SMART Domains |
Protein: ENSMUSP00000033139
Gene: ENSMUSG00000030850
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATE_N
|
18 |
92 |
1.2e-32 |
PFAM |
|
low complexity region
|
147 |
168 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
236 |
N/A |
INTRINSIC |
|
Pfam:ATE_C
|
288 |
430 |
4.3e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035458
|
| SMART Domains |
Protein: ENSMUSP00000043365
Gene: ENSMUSG00000030850
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATE_N
|
14 |
92 |
2.3e-30 |
PFAM |
|
low complexity region
|
147 |
168 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
236 |
N/A |
INTRINSIC |
|
Pfam:ATE_C
|
287 |
431 |
6.6e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094017
|
| SMART Domains |
Protein: ENSMUSP00000091556
Gene: ENSMUSG00000030850
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATE_N
|
7 |
85 |
3.3e-29 |
PFAM |
|
low complexity region
|
140 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
229 |
N/A |
INTRINSIC |
|
Pfam:ATE_C
|
280 |
424 |
2.2e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124096
|
| SMART Domains |
Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
118 |
4.8e-19 |
PFAM |
|
Pfam:Pkinase_Tyr
|
1 |
118 |
1.7e-50 |
PFAM |
|
low complexity region
|
146 |
160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178534
|
| SMART Domains |
Protein: ENSMUSP00000136956
Gene: ENSMUSG00000030850
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATE_N
|
7 |
85 |
3.3e-29 |
PFAM |
|
low complexity region
|
140 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
229 |
N/A |
INTRINSIC |
|
Pfam:ATE_C
|
280 |
424 |
6.4e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207041
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208116
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216011
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an arginyltransferase, an enzyme that is involved in posttranslational conjugation of arginine to N-terminal aspartate or glutamate residues. Conjugation of arginine to the N-terminal aspartate or glutamate targets proteins for ubiquitin-dependent degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygous mutation of this gene results in developmental defects of the heart and embryonic lethality between E13.5 and E15.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
T |
A |
3: 97,073,875 (GRCm39) |
F160I |
probably benign |
Het |
| Agt |
T |
C |
8: 125,284,502 (GRCm39) |
D412G |
possibly damaging |
Het |
| Als2 |
C |
A |
1: 59,254,324 (GRCm39) |
Q344H |
probably benign |
Het |
| B3gnt5 |
A |
G |
16: 19,588,744 (GRCm39) |
H321R |
probably damaging |
Het |
| Cog2 |
C |
A |
8: 125,277,075 (GRCm39) |
H694N |
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,855,211 (GRCm39) |
N157S |
unknown |
Het |
| Cyp3a44 |
T |
A |
5: 145,725,208 (GRCm39) |
K331I |
probably damaging |
Het |
| Dnaaf9 |
T |
C |
2: 130,569,082 (GRCm39) |
D749G |
probably damaging |
Het |
| Gal3st4 |
C |
A |
5: 138,263,931 (GRCm39) |
W351L |
probably damaging |
Het |
| H2-T22 |
A |
T |
17: 36,352,517 (GRCm39) |
L136H |
probably benign |
Het |
| Ift25 |
A |
G |
4: 107,132,471 (GRCm39) |
E86G |
probably damaging |
Het |
| Itpripl1 |
A |
T |
2: 126,982,932 (GRCm39) |
F397I |
probably damaging |
Het |
| Lama1 |
C |
T |
17: 68,093,076 (GRCm39) |
Q1705* |
probably null |
Het |
| Mfge8 |
A |
T |
7: 78,791,458 (GRCm39) |
L248Q |
probably damaging |
Het |
| Mfge8 |
T |
C |
7: 78,791,476 (GRCm39) |
E279G |
possibly damaging |
Het |
| Obox3 |
T |
C |
7: 15,360,178 (GRCm39) |
T164A |
probably benign |
Het |
| Plat |
T |
C |
8: 23,266,835 (GRCm39) |
C276R |
probably damaging |
Het |
| Radil |
G |
A |
5: 142,480,674 (GRCm39) |
R594C |
probably benign |
Het |
| Shroom4 |
T |
A |
X: 6,497,244 (GRCm39) |
D801E |
probably benign |
Het |
| Thsd4 |
C |
T |
9: 59,964,129 (GRCm39) |
|
probably null |
Het |
| Vmn2r77 |
C |
T |
7: 86,460,555 (GRCm39) |
T627I |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 19,168,298 (GRCm39) |
T851S |
probably benign |
Het |
|
| Other mutations in Ate1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0025:Ate1
|
UTSW |
7 |
130,105,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0615:Ate1
|
UTSW |
7 |
130,115,563 (GRCm39) |
splice site |
probably benign |
|
|
R1293:Ate1
|
UTSW |
7 |
129,996,455 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1299:Ate1
|
UTSW |
7 |
130,106,485 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1476:Ate1
|
UTSW |
7 |
130,020,301 (GRCm39) |
splice site |
probably null |
|
|
R1555:Ate1
|
UTSW |
7 |
130,110,821 (GRCm39) |
missense |
probably benign |
|
|
R2061:Ate1
|
UTSW |
7 |
130,112,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2358:Ate1
|
UTSW |
7 |
130,117,895 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3840:Ate1
|
UTSW |
7 |
130,117,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3950:Ate1
|
UTSW |
7 |
130,069,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4038:Ate1
|
UTSW |
7 |
130,106,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Ate1
|
UTSW |
7 |
130,115,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4954:Ate1
|
UTSW |
7 |
130,110,748 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5151:Ate1
|
UTSW |
7 |
130,109,394 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5796:Ate1
|
UTSW |
7 |
130,068,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6297:Ate1
|
UTSW |
7 |
130,105,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7146:Ate1
|
UTSW |
7 |
130,083,508 (GRCm39) |
splice site |
probably null |
|
|
R7250:Ate1
|
UTSW |
7 |
130,121,701 (GRCm39) |
unclassified |
probably benign |
|
|
R7291:Ate1
|
UTSW |
7 |
130,121,661 (GRCm39) |
missense |
probably benign |
|
|
R7547:Ate1
|
UTSW |
7 |
130,106,539 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7781:Ate1
|
UTSW |
7 |
130,121,157 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8006:Ate1
|
UTSW |
7 |
130,069,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8257:Ate1
|
UTSW |
7 |
130,069,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8342:Ate1
|
UTSW |
7 |
130,105,495 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8899:Ate1
|
UTSW |
7 |
129,996,389 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9146:Ate1
|
UTSW |
7 |
130,069,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9155:Ate1
|
UTSW |
7 |
129,996,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0011:Ate1
|
UTSW |
7 |
129,996,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ate1
|
UTSW |
7 |
130,106,444 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2016-08-02 |
Incidental Mutation