Incidental Mutation 'R1293:Ate1'
| ID |
150708 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ate1
|
| Ensembl Gene |
ENSMUSG00000030850 |
| Gene Name |
arginyltransferase 1 |
| Synonyms |
|
| MMRRC Submission |
039359-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1293 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
129993223-130122099 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 129996455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 505
(R505C)
|
| 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
AA Change: R462C
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000033139
Gene: ENSMUSG00000030850
AA Change: R462C
| 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
AA Change: R462C
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000043365
Gene: ENSMUSG00000030850
AA Change: R462C
| 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: R455C
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000091556
Gene: ENSMUSG00000030850
AA Change: R455C
| 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
AA Change: R455C
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000136956
Gene: ENSMUSG00000030850
AA Change: R455C
| 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 |
unknown
Transcript: ENSMUST00000207041
AA Change: R187C
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208116
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216011
AA Change: R505C
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.5%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
G |
A |
2: 155,393,141 (GRCm39) |
R289Q |
probably benign |
Het |
| Adgrl4 |
G |
A |
3: 151,213,081 (GRCm39) |
E374K |
probably benign |
Het |
| Cntn4 |
T |
C |
6: 106,330,685 (GRCm39) |
I101T |
probably benign |
Het |
| Dmtf1 |
T |
A |
5: 9,190,383 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
C |
A |
11: 118,017,963 (GRCm39) |
|
probably null |
Het |
| Efhc1 |
A |
G |
1: 21,048,996 (GRCm39) |
T470A |
probably damaging |
Het |
| Fam118b |
A |
T |
9: 35,132,721 (GRCm39) |
Y313N |
probably damaging |
Het |
| Gm10142 |
T |
C |
10: 77,551,869 (GRCm39) |
S77P |
probably benign |
Het |
| Kat8 |
T |
C |
7: 127,521,422 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,353,646 (GRCm39) |
|
probably null |
Het |
| Lrrc10 |
A |
G |
10: 116,881,838 (GRCm39) |
T171A |
probably benign |
Het |
| Mcidas |
A |
G |
13: 113,133,926 (GRCm39) |
T137A |
probably benign |
Het |
| Med1 |
G |
A |
11: 98,047,862 (GRCm39) |
T978I |
possibly damaging |
Het |
| Muc6 |
C |
A |
7: 141,238,255 (GRCm39) |
C75F |
probably damaging |
Het |
| Olfm3 |
A |
G |
3: 114,895,579 (GRCm39) |
I154V |
possibly damaging |
Het |
| Or2ag15 |
A |
G |
7: 106,341,058 (GRCm39) |
C28R |
probably damaging |
Het |
| Or2y12 |
G |
A |
11: 49,426,393 (GRCm39) |
C127Y |
probably damaging |
Het |
| Or5ak22 |
T |
A |
2: 85,230,697 (GRCm39) |
|
probably null |
Het |
| Or7g30 |
A |
T |
9: 19,352,728 (GRCm39) |
E173V |
probably benign |
Het |
| Rsrc1 |
G |
A |
3: 67,263,612 (GRCm39) |
R324Q |
probably damaging |
Het |
| Samd9l |
G |
T |
6: 3,373,947 (GRCm39) |
P1105T |
possibly damaging |
Het |
| Sgcb |
C |
A |
5: 73,792,870 (GRCm39) |
V311F |
probably benign |
Het |
| Siglec1 |
A |
G |
2: 130,915,451 (GRCm39) |
V1380A |
probably benign |
Het |
| Spred1 |
C |
T |
2: 117,007,889 (GRCm39) |
P265L |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,235,190 (GRCm39) |
H3259Q |
probably damaging |
Het |
| Unc13c |
C |
T |
9: 73,481,356 (GRCm39) |
D1694N |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,280,750 (GRCm39) |
R2355G |
probably benign |
Het |
| Vmn1r53 |
T |
A |
6: 90,201,196 (GRCm39) |
N43Y |
possibly damaging |
Het |
| Wtip |
T |
C |
7: 33,809,646 (GRCm39) |
S359G |
possibly damaging |
Het |
| Zfp984 |
T |
A |
4: 147,840,398 (GRCm39) |
K151M |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTCCAGAAGCAAGCTGCAAA -3'
(R):5'- catccacagcaTTGCCTCTCACTAA -3'
Sequencing Primer
(F):5'- TCCCAATTAAAGGGCTAGGTC -3'
(R):5'- cagcaTTGCCTCTCACTAAAATCC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation