Incidental Mutation 'R0025:Ate1'
| ID |
15131 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ate1
|
| Ensembl Gene |
ENSMUSG00000030850 |
| Gene Name |
arginyltransferase 1 |
| Synonyms |
|
| MMRRC Submission |
038320-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0025 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
129993223-130122099 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 130105523 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 332
(S332P)
|
| 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 damaging
Transcript: ENSMUST00000035458
AA Change: S289P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043365
Gene: ENSMUSG00000030850
AA Change: S289P
| 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 damaging
Transcript: ENSMUST00000178534
AA Change: S282P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136956
Gene: ENSMUSG00000030850
AA Change: S282P
| 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 |
probably damaging
Transcript: ENSMUST00000216011
AA Change: S332P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.7357 |
| Coding Region Coverage |
- 1x: 75.6%
- 3x: 62.5%
- 10x: 33.3%
- 20x: 15.9%
|
| Validation Efficiency |
95% (69/73) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm1 |
A |
T |
7: 119,257,538 (GRCm39) |
T435S |
probably damaging |
Het |
| Agtpbp1 |
G |
A |
13: 59,648,014 (GRCm39) |
T602I |
probably benign |
Het |
| Ahnak2 |
T |
A |
12: 112,749,154 (GRCm39) |
D231V |
probably damaging |
Het |
| Ampd3 |
G |
A |
7: 110,392,876 (GRCm39) |
D215N |
probably benign |
Het |
| Ces1f |
T |
C |
8: 93,998,513 (GRCm39) |
E161G |
probably benign |
Het |
| Ces2g |
A |
G |
8: 105,692,628 (GRCm39) |
|
probably benign |
Het |
| Cntnap4 |
T |
G |
8: 113,529,796 (GRCm39) |
L668R |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Csf1 |
A |
G |
3: 107,655,960 (GRCm39) |
V245A |
probably benign |
Het |
| Ctss |
A |
G |
3: 95,457,448 (GRCm39) |
Y302C |
probably damaging |
Het |
| Dbt |
C |
T |
3: 116,328,432 (GRCm39) |
H158Y |
probably benign |
Het |
| Dennd6b |
T |
C |
15: 89,070,386 (GRCm39) |
I428V |
probably benign |
Het |
| Dnah9 |
G |
A |
11: 65,860,781 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
G |
T |
9: 106,790,467 (GRCm39) |
Q1419K |
possibly damaging |
Het |
| Enpp6 |
A |
G |
8: 47,519,035 (GRCm39) |
K268E |
probably damaging |
Het |
| Eps15l1 |
T |
G |
8: 73,135,341 (GRCm39) |
|
probably benign |
Het |
| Gm10800 |
C |
A |
2: 98,496,925 (GRCm39) |
M209I |
probably benign |
Het |
| Herc3 |
C |
T |
6: 58,851,293 (GRCm39) |
P514L |
probably damaging |
Het |
| Mark2 |
T |
C |
19: 7,263,287 (GRCm39) |
D160G |
probably damaging |
Het |
| Mbd4 |
A |
G |
6: 115,821,529 (GRCm39) |
|
probably null |
Het |
| Mink1 |
T |
C |
11: 70,503,868 (GRCm39) |
W1263R |
probably damaging |
Het |
| Nlrp14 |
A |
T |
7: 106,780,465 (GRCm39) |
|
probably benign |
Het |
| Osbp |
T |
C |
19: 11,961,322 (GRCm39) |
Y454H |
probably damaging |
Het |
| Pak5 |
T |
C |
2: 135,942,704 (GRCm39) |
K479E |
possibly damaging |
Het |
| Pard3 |
C |
A |
8: 127,888,058 (GRCm39) |
D73E |
probably damaging |
Het |
| Pmp22 |
A |
T |
11: 63,049,076 (GRCm39) |
|
probably null |
Het |
| Scn4a |
C |
T |
11: 106,215,386 (GRCm39) |
V1197I |
probably benign |
Het |
| Slc36a2 |
A |
G |
11: 55,053,621 (GRCm39) |
L339P |
probably damaging |
Het |
| Smg1 |
G |
A |
7: 117,811,666 (GRCm39) |
T104I |
possibly damaging |
Het |
| Stx18 |
T |
A |
5: 38,249,908 (GRCm39) |
Y74N |
probably damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,638,492 (GRCm39) |
H1102Q |
probably damaging |
Het |
| Tom1l2 |
T |
C |
11: 60,120,960 (GRCm39) |
K450E |
probably damaging |
Het |
| Tpo |
T |
C |
12: 30,150,389 (GRCm39) |
Q497R |
probably benign |
Het |
| Tsc2 |
A |
G |
17: 24,849,978 (GRCm39) |
|
probably benign |
Het |
| Tut7 |
A |
T |
13: 59,953,142 (GRCm39) |
D99E |
probably benign |
Het |
| Vit |
G |
A |
17: 78,907,264 (GRCm39) |
G229R |
probably benign |
Het |
| Vwf |
T |
A |
6: 125,659,775 (GRCm39) |
I2658N |
probably benign |
Het |
| Wdr36 |
T |
A |
18: 32,992,360 (GRCm39) |
D632E |
probably damaging |
Het |
| Zfp654 |
A |
G |
16: 64,605,181 (GRCm39) |
V466A |
probably benign |
Het |
| Zfp941 |
T |
C |
7: 140,393,185 (GRCm39) |
D58G |
probably benign |
Het |
|
| Other mutations in Ate1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02978:Ate1
|
APN |
7 |
129,996,470 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2012-12-12 |
Incidental Mutation