Incidental Mutation 'R8006:Ate1'
| ID |
616629 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ate1
|
| Ensembl Gene |
ENSMUSG00000030850 |
| Gene Name |
arginyltransferase 1 |
| Synonyms |
|
| MMRRC Submission |
046046-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8006 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
129993223-130122099 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 130069118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 340
(Q340L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043365
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033139]
[ENSMUST00000035458]
[ENSMUST00000094017]
[ENSMUST00000124096]
[ENSMUST00000178534]
[ENSMUST00000216011]
|
| AlphaFold |
Q9Z2A5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033139
AA Change: Q340L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033139
Gene: ENSMUSG00000030850
AA Change: Q340L
| 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: Q340L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043365
Gene: ENSMUSG00000030850
AA Change: Q340L
| 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: Q333L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000091556
Gene: ENSMUSG00000030850
AA Change: Q333L
| 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: Q333L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136956
Gene: ENSMUSG00000030850
AA Change: Q333L
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216011
AA Change: Q383L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
T |
A |
8: 41,248,944 (GRCm39) |
H351Q |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,989,447 (GRCm39) |
V3577A |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,229,444 (GRCm39) |
S126P |
probably damaging |
Het |
| Akip1 |
A |
G |
7: 109,303,199 (GRCm39) |
D14G |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,781,772 (GRCm39) |
R287G |
|
Het |
| Ankrd13a |
A |
C |
5: 114,942,484 (GRCm39) |
*589S |
probably null |
Het |
| Ankrd34c |
T |
C |
9: 89,611,889 (GRCm39) |
I151V |
probably damaging |
Het |
| Ano5 |
T |
A |
7: 51,243,518 (GRCm39) |
D880E |
probably benign |
Het |
| Arl3 |
A |
C |
19: 46,546,813 (GRCm39) |
L4R |
probably damaging |
Het |
| Ccdc38 |
A |
T |
10: 93,391,448 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
C |
T |
9: 108,706,306 (GRCm39) |
P930S |
probably damaging |
Het |
| Cfhr4 |
A |
G |
1: 139,664,590 (GRCm39) |
Y490H |
probably damaging |
Het |
| Cox18 |
C |
T |
5: 90,371,672 (GRCm39) |
V43M |
probably damaging |
Het |
| Ctnna3 |
A |
G |
10: 63,417,790 (GRCm39) |
K176R |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,334,183 (GRCm39) |
T1004A |
probably benign |
Het |
| Fam227a |
A |
G |
15: 79,518,299 (GRCm39) |
I335T |
possibly damaging |
Het |
| Gm14496 |
A |
G |
2: 181,637,669 (GRCm39) |
I248V |
probably benign |
Het |
| Gm6871 |
T |
C |
7: 41,195,106 (GRCm39) |
T544A |
probably benign |
Het |
| Grm6 |
A |
T |
11: 50,755,484 (GRCm39) |
*872L |
probably null |
Het |
| Herc1 |
T |
A |
9: 66,352,842 (GRCm39) |
Y2109* |
probably null |
Het |
| Hsd11b2 |
T |
A |
8: 106,245,735 (GRCm39) |
V80E |
possibly damaging |
Het |
| Itgb3 |
T |
C |
11: 104,556,322 (GRCm39) |
V721A |
possibly damaging |
Het |
| Jade1 |
A |
T |
3: 41,568,124 (GRCm39) |
I731L |
probably benign |
Het |
| Khnyn |
G |
A |
14: 56,125,047 (GRCm39) |
V434I |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,425,488 (GRCm39) |
L714P |
probably damaging |
Het |
| Lrrc41 |
G |
A |
4: 115,952,085 (GRCm39) |
E585K |
possibly damaging |
Het |
| Lrrfip1 |
A |
G |
1: 91,004,673 (GRCm39) |
Y70C |
probably damaging |
Het |
| Mex3a |
T |
A |
3: 88,444,393 (GRCm39) |
C490S |
probably damaging |
Het |
| Mmp27 |
C |
T |
9: 7,578,985 (GRCm39) |
R387C |
probably damaging |
Het |
| Mro |
A |
T |
18: 74,010,577 (GRCm39) |
D219V |
possibly damaging |
Het |
| Myot |
T |
A |
18: 44,487,904 (GRCm39) |
L407Q |
probably damaging |
Het |
| Nppa |
T |
A |
4: 148,085,638 (GRCm39) |
W82R |
probably damaging |
Het |
| Or10g6 |
T |
G |
9: 39,933,770 (GRCm39) |
L27R |
probably damaging |
Het |
| Or52a20 |
T |
A |
7: 103,366,532 (GRCm39) |
C244S |
probably damaging |
Het |
| Or5ak24 |
T |
C |
2: 85,260,318 (GRCm39) |
N285S |
probably damaging |
Het |
| Phip |
T |
A |
9: 82,772,179 (GRCm39) |
I1123L |
possibly damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,661,831 (GRCm39) |
I695T |
probably benign |
Het |
| Ppp1r10 |
A |
T |
17: 36,239,158 (GRCm39) |
M347L |
probably benign |
Het |
| Reln |
A |
T |
5: 22,104,082 (GRCm39) |
C3296* |
probably null |
Het |
| Semp2l1 |
T |
A |
1: 32,586,005 (GRCm39) |
|
probably benign |
Het |
| Slf2 |
T |
A |
19: 44,930,756 (GRCm39) |
L611Q |
probably damaging |
Het |
| Spire1 |
G |
A |
18: 67,634,251 (GRCm39) |
Q396* |
probably null |
Het |
| Taf2 |
A |
G |
15: 54,912,097 (GRCm39) |
F537L |
probably damaging |
Het |
| Tbc1d16 |
C |
T |
11: 119,046,898 (GRCm39) |
E451K |
probably damaging |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tmem267 |
T |
A |
13: 120,070,774 (GRCm39) |
V143E |
probably damaging |
Het |
| Tyw1 |
C |
T |
5: 130,296,913 (GRCm39) |
R177W |
possibly damaging |
Het |
| Vcp |
A |
T |
4: 42,985,993 (GRCm39) |
H340Q |
probably benign |
Het |
| Vmn2r14 |
A |
T |
5: 109,368,324 (GRCm39) |
L223M |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,159,182 (GRCm39) |
D533G |
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,650,174 (GRCm39) |
C331S |
probably benign |
Het |
| Zik1 |
A |
T |
7: 10,224,100 (GRCm39) |
C332* |
probably null |
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 |
|
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'- AGGGCTCCTCCTATTACACAATG -3'
(R):5'- ACTCTTTATCTGGATGGTGGTCAC -3'
Sequencing Primer
(F):5'- GCTGAATAGACACCCAAAGA -3'
(R):5'- ATGACTTCCTGCTGCTGT -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation