Incidental Mutation 'R2358:Ate1'
| ID |
247016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ate1
|
| Ensembl Gene |
ENSMUSG00000030850 |
| Gene Name |
arginyltransferase 1 |
| Synonyms |
|
| MMRRC Submission |
040340-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2358 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
129993223-130122099 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 130117895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 30
(M30K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136956
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033139]
[ENSMUST00000035458]
[ENSMUST00000094017]
[ENSMUST00000124096]
[ENSMUST00000178534]
[ENSMUST00000207141]
[ENSMUST00000216011]
|
| AlphaFold |
Q9Z2A5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033139
AA Change: M37K
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000033139
Gene: ENSMUSG00000030850
AA Change: M37K
| 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: M37K
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043365
Gene: ENSMUSG00000030850
AA Change: M37K
| 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 |
possibly damaging
Transcript: ENSMUST00000094017
AA Change: M30K
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000091556
Gene: ENSMUSG00000030850
AA Change: M30K
| 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: M30K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136956
Gene: ENSMUSG00000030850
AA Change: M30K
| 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: ENSMUST00000207141
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207402
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216011
AA Change: M37K
PolyPhen 2
Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.8884 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
98% (55/56) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
CGG |
CG |
5: 124,215,368 (GRCm39) |
|
probably null |
Het |
| Aif1l |
T |
A |
2: 31,859,763 (GRCm39) |
F94L |
probably damaging |
Het |
| Ankzf1 |
C |
T |
1: 75,171,895 (GRCm39) |
H209Y |
probably damaging |
Het |
| Cd27 |
A |
G |
6: 125,210,281 (GRCm39) |
Y189H |
probably damaging |
Het |
| Cela1 |
A |
G |
15: 100,579,109 (GRCm39) |
I183T |
probably benign |
Het |
| Copg2 |
A |
T |
6: 30,803,168 (GRCm39) |
L259* |
probably null |
Het |
| Dennd2b |
A |
T |
7: 109,155,653 (GRCm39) |
S366T |
probably benign |
Het |
| Efcab7 |
T |
A |
4: 99,719,823 (GRCm39) |
|
probably benign |
Het |
| Fcrl5 |
A |
G |
3: 87,353,726 (GRCm39) |
E357G |
probably damaging |
Het |
| Fzr1 |
C |
T |
10: 81,203,474 (GRCm39) |
|
probably null |
Het |
| Il12rb2 |
C |
T |
6: 67,275,179 (GRCm39) |
A649T |
probably damaging |
Het |
| Itfg1 |
C |
A |
8: 86,464,758 (GRCm39) |
V438F |
probably damaging |
Het |
| Jaml |
A |
C |
9: 45,012,361 (GRCm39) |
I283L |
possibly damaging |
Het |
| Kif28 |
A |
T |
1: 179,537,024 (GRCm39) |
H486Q |
probably damaging |
Het |
| Lrch4 |
A |
G |
5: 137,636,810 (GRCm39) |
|
probably benign |
Het |
| Lrfn2 |
A |
G |
17: 49,378,188 (GRCm39) |
E423G |
possibly damaging |
Het |
| Lrp4 |
T |
A |
2: 91,332,299 (GRCm39) |
N1665K |
probably benign |
Het |
| Mrpl32 |
A |
T |
13: 14,785,165 (GRCm39) |
V157E |
probably damaging |
Het |
| Mta3 |
A |
G |
17: 84,070,417 (GRCm39) |
I193V |
probably damaging |
Het |
| Myom2 |
G |
A |
8: 15,162,018 (GRCm39) |
V984I |
possibly damaging |
Het |
| Nedd4l |
G |
A |
18: 65,342,790 (GRCm39) |
V909I |
possibly damaging |
Het |
| Nlrp4a |
A |
G |
7: 26,163,623 (GRCm39) |
D930G |
probably benign |
Het |
| Or10al5 |
T |
A |
17: 38,063,271 (GRCm39) |
C175* |
probably null |
Het |
| Or5d47 |
A |
T |
2: 87,804,066 (GRCm39) |
N314K |
probably benign |
Het |
| Or7a35 |
T |
C |
10: 78,854,022 (GRCm39) |
F289L |
probably damaging |
Het |
| Ovch2 |
A |
T |
7: 107,394,122 (GRCm39) |
H110Q |
probably damaging |
Het |
| Pcnx3 |
G |
A |
19: 5,733,367 (GRCm39) |
Q155* |
probably null |
Het |
| Pcnx3 |
C |
G |
19: 5,733,368 (GRCm39) |
L1F |
probably null |
Het |
| Pi4k2a |
G |
A |
19: 42,079,131 (GRCm39) |
R64Q |
probably damaging |
Het |
| Ptpn12 |
G |
A |
5: 21,203,690 (GRCm39) |
P363S |
probably damaging |
Het |
| Rbm27 |
T |
C |
18: 42,425,177 (GRCm39) |
|
probably benign |
Het |
| Ripor3 |
A |
G |
2: 167,825,785 (GRCm39) |
|
probably benign |
Het |
| Rpl13-ps3 |
A |
G |
14: 59,131,265 (GRCm39) |
|
noncoding transcript |
Het |
| Sap18b |
G |
A |
8: 96,552,191 (GRCm39) |
R67H |
probably benign |
Het |
| Sdhb |
T |
C |
4: 140,700,311 (GRCm39) |
V137A |
probably damaging |
Het |
| Shmt2 |
T |
C |
10: 127,353,897 (GRCm39) |
T459A |
probably benign |
Het |
| Siglecg |
A |
G |
7: 43,058,846 (GRCm39) |
S200G |
possibly damaging |
Het |
| Slc6a15 |
T |
G |
10: 103,252,646 (GRCm39) |
I603S |
probably benign |
Het |
| Smtn |
A |
T |
11: 3,482,865 (GRCm39) |
|
probably null |
Het |
| Spata31d1a |
G |
A |
13: 59,851,702 (GRCm39) |
S142L |
probably benign |
Het |
| Spopfm2 |
G |
A |
3: 94,082,854 (GRCm39) |
A319V |
possibly damaging |
Het |
| Spopfm2 |
C |
A |
3: 94,082,855 (GRCm39) |
A319S |
possibly damaging |
Het |
| Spopl |
C |
T |
2: 23,427,392 (GRCm39) |
R221Q |
probably damaging |
Het |
| Strip1 |
A |
G |
3: 107,523,135 (GRCm39) |
V633A |
probably benign |
Het |
| Sun2 |
A |
G |
15: 79,612,114 (GRCm39) |
S522P |
possibly damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Terb2 |
T |
A |
2: 122,028,913 (GRCm39) |
C157S |
probably benign |
Het |
| Themis |
T |
A |
10: 28,739,376 (GRCm39) |
N615K |
possibly damaging |
Het |
| Tlnrd1 |
A |
T |
7: 83,531,488 (GRCm39) |
D314E |
probably benign |
Het |
| Vmn1r205 |
T |
A |
13: 22,776,566 (GRCm39) |
T179S |
probably benign |
Het |
| Vsig10l |
G |
A |
7: 43,118,185 (GRCm39) |
R689H |
probably benign |
Het |
| Wt1 |
G |
A |
2: 104,993,773 (GRCm39) |
|
probably benign |
Het |
| Zfp423 |
G |
T |
8: 88,507,179 (GRCm39) |
A1034D |
possibly damaging |
Het |
| Zfy2 |
T |
C |
Y: 2,107,272 (GRCm39) |
E454G |
possibly damaging |
Het |
| Zyg11a |
G |
T |
4: 108,053,343 (GRCm39) |
Q440K |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTCCAGAAACTGTCAAAGGTTAG -3'
(R):5'- TGTTAGGTGTAAAGTAAATGCAGAC -3'
Sequencing Primer
(F):5'- TCCTGAGGGCAATTCTCA -3'
(R):5'- TTACACAGGGTCTAACTAGGTAGCC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation