Incidental Mutation 'R7547:Ate1'
| ID |
584258 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ate1
|
| Ensembl Gene |
ENSMUSG00000030850 |
| Gene Name |
arginyltransferase 1 |
| Synonyms |
|
| MMRRC Submission |
045618-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7547 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
129993223-130122099 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 130106539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Isoleucine
at position 274
(R274I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033139
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033139]
[ENSMUST00000035458]
[ENSMUST00000094017]
[ENSMUST00000124096]
[ENSMUST00000178534]
[ENSMUST00000207141]
[ENSMUST00000216011]
|
| AlphaFold |
Q9Z2A5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033139
AA Change: R274I
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000033139
Gene: ENSMUSG00000030850
AA Change: R274I
| 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
AA Change: R267I
PolyPhen 2
Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000091556
Gene: ENSMUSG00000030850
AA Change: R267I
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207141
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216011
AA Change: R274I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
T |
4: 53,109,269 (GRCm39) |
D146E |
probably benign |
Het |
| Adgrl1 |
C |
T |
8: 84,665,513 (GRCm39) |
A1400V |
probably benign |
Het |
| Ank2 |
A |
G |
3: 126,738,852 (GRCm39) |
V2344A |
unknown |
Het |
| Anxa2r2 |
A |
T |
13: 120,488,457 (GRCm39) |
F31I |
probably damaging |
Het |
| Aplnr |
A |
T |
2: 84,967,521 (GRCm39) |
D182V |
probably damaging |
Het |
| Asb4 |
C |
T |
6: 5,398,350 (GRCm39) |
P105L |
probably damaging |
Het |
| Ccdc43 |
A |
G |
11: 102,582,948 (GRCm39) |
V92A |
probably benign |
Het |
| Cfap69 |
T |
A |
5: 5,654,290 (GRCm39) |
N548I |
possibly damaging |
Het |
| Clpb |
A |
G |
7: 101,313,503 (GRCm39) |
|
probably null |
Het |
| Ctnnal1 |
G |
A |
4: 56,817,032 (GRCm39) |
R597C |
probably damaging |
Het |
| Dchs2 |
A |
G |
3: 83,263,434 (GRCm39) |
K3234R |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,702,996 (GRCm39) |
K151N |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,253,573 (GRCm39) |
I1826K |
possibly damaging |
Het |
| Dnttip1 |
A |
G |
2: 164,609,799 (GRCm39) |
K289E |
probably benign |
Het |
| Eppk1 |
G |
T |
15: 75,991,740 (GRCm39) |
Q1714K |
probably benign |
Het |
| Exoc4 |
A |
G |
6: 33,816,056 (GRCm39) |
D674G |
possibly damaging |
Het |
| Galnt7 |
A |
T |
8: 58,036,996 (GRCm39) |
V131D |
possibly damaging |
Het |
| Glg1 |
C |
T |
8: 111,914,393 (GRCm39) |
V464M |
possibly damaging |
Het |
| Hlcs |
G |
T |
16: 94,032,031 (GRCm39) |
S444* |
probably null |
Het |
| Larp1 |
G |
T |
11: 57,943,405 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,335,410 (GRCm39) |
Y4386C |
probably damaging |
Het |
| Mapt |
A |
G |
11: 104,213,138 (GRCm39) |
|
probably null |
Het |
| Neb |
C |
T |
2: 52,172,637 (GRCm39) |
V1557I |
probably benign |
Het |
| Nid2 |
A |
G |
14: 19,847,345 (GRCm39) |
T953A |
probably benign |
Het |
| Or5b105 |
T |
C |
19: 13,080,407 (GRCm39) |
D87G |
not run |
Het |
| Pax3 |
G |
A |
1: 78,099,231 (GRCm39) |
Q319* |
probably null |
Het |
| Ppp2r1b |
T |
A |
9: 50,773,762 (GRCm39) |
S212R |
probably benign |
Het |
| Prss29 |
T |
C |
17: 25,539,896 (GRCm39) |
L98P |
probably damaging |
Het |
| Ptch2 |
T |
G |
4: 116,967,161 (GRCm39) |
L646R |
probably damaging |
Het |
| Rasa2 |
T |
A |
9: 96,493,474 (GRCm39) |
E70V |
probably damaging |
Het |
| Serf2 |
A |
G |
2: 121,281,256 (GRCm39) |
N65S |
possibly damaging |
Het |
| Serpinb6b |
G |
A |
13: 33,158,907 (GRCm39) |
G155D |
probably benign |
Het |
| Serpinb6c |
A |
G |
13: 34,077,875 (GRCm39) |
I165T |
possibly damaging |
Het |
| Skint5 |
A |
T |
4: 113,483,785 (GRCm39) |
V949E |
unknown |
Het |
| Slc11a2 |
A |
G |
15: 100,295,651 (GRCm39) |
I490T |
possibly damaging |
Het |
| Slx4 |
T |
C |
16: 3,803,436 (GRCm39) |
D1126G |
probably benign |
Het |
| Tent4a |
G |
T |
13: 69,681,823 (GRCm39) |
P160Q |
probably benign |
Het |
| Tln1 |
G |
T |
4: 43,545,206 (GRCm39) |
A1003E |
possibly damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Trav21-dv12 |
T |
C |
14: 54,114,072 (GRCm39) |
V64A |
probably damaging |
Het |
| U2surp |
T |
C |
9: 95,361,402 (GRCm39) |
E620G |
possibly damaging |
Het |
| Usp3 |
T |
C |
9: 66,449,906 (GRCm39) |
N179S |
possibly damaging |
Het |
| Vps13d |
T |
C |
4: 144,784,108 (GRCm39) |
T3889A |
|
Het |
| Vps35 |
C |
T |
8: 85,989,999 (GRCm39) |
V670M |
probably damaging |
Het |
| Zfp626 |
T |
C |
7: 27,517,828 (GRCm39) |
S270P |
possibly damaging |
Het |
| Zfp955a |
C |
T |
17: 33,461,797 (GRCm39) |
V112M |
probably benign |
Het |
| Zranb2 |
T |
C |
3: 157,246,806 (GRCm39) |
S165P |
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 |
|
|
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'- CAGAATGTCCACTCACTCAGTC -3'
(R):5'- GTCAGTTTACAGTAGAGCTAGGTG -3'
Sequencing Primer
(F):5'- AGAATGTCCACTCACTCAGTCTTATC -3'
(R):5'- TCAGTGGTAAGGCTTAAATTTAGAGG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation