Incidental Mutation 'R8257:Ate1'
| ID |
640515 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ate1
|
| Ensembl Gene |
ENSMUSG00000030850 |
| Gene Name |
arginyltransferase 1 |
| Synonyms |
|
| MMRRC Submission |
067683-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8257 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
129993223-130122099 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 130069037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 367
(Y367C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033139
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033139]
[ENSMUST00000035458]
[ENSMUST00000094017]
[ENSMUST00000124096]
[ENSMUST00000178534]
|
| AlphaFold |
Q9Z2A5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033139
AA Change: Y367C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033139
Gene: ENSMUSG00000030850
AA Change: Y367C
| 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: Y367C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043365
Gene: ENSMUSG00000030850
AA Change: Y367C
| 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 damaging
Transcript: ENSMUST00000094017
AA Change: Y360C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091556
Gene: ENSMUSG00000030850
AA Change: Y360C
| 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: Y360C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136956
Gene: ENSMUSG00000030850
AA Change: Y360C
| 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 |
|
| Meta Mutation Damage Score |
0.9123 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (52/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,950,153 (GRCm39) |
K1350R |
probably benign |
Het |
| 4933407L21Rik |
T |
A |
1: 85,859,060 (GRCm39) |
C70* |
probably null |
Het |
| Akr1c6 |
G |
A |
13: 4,488,525 (GRCm39) |
V97I |
probably benign |
Het |
| Alg9 |
A |
T |
9: 50,690,387 (GRCm39) |
I130F |
possibly damaging |
Het |
| Ankle2 |
G |
T |
5: 110,401,781 (GRCm39) |
|
probably null |
Het |
| Ankrd34a |
A |
T |
3: 96,505,045 (GRCm39) |
H83L |
possibly damaging |
Het |
| Aoc1l2 |
A |
G |
6: 48,909,431 (GRCm39) |
T559A |
probably benign |
Het |
| Atg9b |
C |
T |
5: 24,591,303 (GRCm39) |
|
probably benign |
Het |
| Atp2c1 |
A |
G |
9: 105,308,756 (GRCm39) |
S626P |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,614,606 (GRCm39) |
N1069S |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 104,921,962 (GRCm39) |
D753G |
probably benign |
Het |
| Cdk11b |
A |
G |
4: 155,732,398 (GRCm39) |
E517G |
unknown |
Het |
| Chst5 |
A |
T |
8: 112,617,092 (GRCm39) |
V176E |
probably damaging |
Het |
| Ddx50 |
T |
C |
10: 62,452,299 (GRCm39) |
|
probably benign |
Het |
| Dspp |
A |
G |
5: 104,324,867 (GRCm39) |
D410G |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,602,908 (GRCm39) |
V2183E |
probably damaging |
Het |
| Emilin2 |
A |
G |
17: 71,580,995 (GRCm39) |
V577A |
probably benign |
Het |
| Entpd2 |
T |
A |
2: 25,288,133 (GRCm39) |
L119Q |
probably damaging |
Het |
| Foxa1 |
A |
T |
12: 57,589,932 (GRCm39) |
M96K |
probably benign |
Het |
| Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
| H2-Aa |
T |
C |
17: 34,502,211 (GRCm39) |
T237A |
probably damaging |
Het |
| Itih4 |
G |
A |
14: 30,609,825 (GRCm39) |
V52I |
possibly damaging |
Het |
| Kntc1 |
T |
C |
5: 123,896,586 (GRCm39) |
|
probably null |
Het |
| Lgi4 |
A |
T |
7: 30,766,766 (GRCm39) |
|
probably null |
Het |
| Map4k2 |
G |
A |
19: 6,396,030 (GRCm39) |
R455H |
probably benign |
Het |
| Masp2 |
A |
G |
4: 148,687,497 (GRCm39) |
T95A |
possibly damaging |
Het |
| Mtmr12 |
T |
C |
15: 12,259,684 (GRCm39) |
I351T |
possibly damaging |
Het |
| Ncdn |
A |
G |
4: 126,643,676 (GRCm39) |
|
probably null |
Het |
| Nckipsd |
A |
G |
9: 108,692,127 (GRCm39) |
E516G |
probably benign |
Het |
| Nlrp12 |
A |
G |
7: 3,297,962 (GRCm39) |
W70R |
probably damaging |
Het |
| Nmral1 |
T |
A |
16: 4,534,267 (GRCm39) |
D58V |
probably damaging |
Het |
| Nr2c1 |
A |
G |
10: 94,028,769 (GRCm39) |
Y522C |
probably damaging |
Het |
| Or14c45 |
A |
G |
7: 86,176,678 (GRCm39) |
T238A |
possibly damaging |
Het |
| Or1e23 |
A |
G |
11: 73,407,203 (GRCm39) |
M274T |
probably benign |
Het |
| Or2d3b |
A |
G |
7: 106,513,926 (GRCm39) |
I174V |
probably benign |
Het |
| Or2w1b |
A |
G |
13: 21,300,543 (GRCm39) |
N227S |
probably benign |
Het |
| Pcdhga6 |
T |
A |
18: 37,841,868 (GRCm39) |
N529K |
probably benign |
Het |
| Pkmyt1 |
C |
T |
17: 23,953,148 (GRCm39) |
R235W |
probably benign |
Het |
| Prss43 |
T |
C |
9: 110,659,880 (GRCm39) |
S315P |
possibly damaging |
Het |
| Psmd1 |
T |
A |
1: 86,006,345 (GRCm39) |
V237E |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,083,476 (GRCm39) |
Y844H |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,764,064 (GRCm39) |
V3089I |
possibly damaging |
Het |
| Slc1a7 |
A |
G |
4: 107,865,394 (GRCm39) |
D294G |
possibly damaging |
Het |
| Slc5a10 |
T |
A |
11: 61,605,873 (GRCm39) |
T148S |
probably damaging |
Het |
| Spata25 |
T |
C |
2: 164,669,690 (GRCm39) |
D107G |
possibly damaging |
Het |
| Stambpl1 |
A |
G |
19: 34,208,901 (GRCm39) |
E132G |
probably damaging |
Het |
| Tgfb1 |
A |
G |
7: 25,396,373 (GRCm39) |
H222R |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Trmt1l |
T |
A |
1: 151,304,629 (GRCm39) |
M1K |
probably null |
Het |
| Vmn2r86 |
A |
T |
10: 130,288,279 (GRCm39) |
H407Q |
possibly damaging |
Het |
| Wdr36 |
T |
A |
18: 32,974,339 (GRCm39) |
|
probably benign |
Het |
| Zfp35 |
T |
A |
18: 24,137,288 (GRCm39) |
I544N |
possibly damaging |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATGTGCATGTGAGTATATACATGC -3'
(R):5'- AATGACTTCCTGCTGCTGTGC -3'
Sequencing Primer
(F):5'- AGTGCTGGCAACTGAATTCC -3'
(R):5'- GCCTGTGTCTGCTTCTTCATAGG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation