Incidental Mutation 'R1299:Ate1'
| ID |
158247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ate1
|
| Ensembl Gene |
ENSMUSG00000030850 |
| Gene Name |
arginyltransferase 1 |
| Synonyms |
|
| MMRRC Submission |
039365-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1299 (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 130106485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 292
(V292D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148888
(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: V292D
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000033139
Gene: ENSMUSG00000030850
AA Change: V292D
| 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 |
possibly damaging
Transcript: ENSMUST00000094017
AA Change: V285D
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000091556
Gene: ENSMUSG00000030850
AA Change: V285D
| 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 |
unknown
Transcript: ENSMUST00000207041
AA Change: V28D
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207141
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216011
AA Change: V292D
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.4495 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
100% (38/38) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,244,821 (GRCm39) |
L2228P |
possibly damaging |
Het |
| Acnat1 |
T |
A |
4: 49,450,925 (GRCm39) |
E62V |
possibly damaging |
Het |
| Adam7 |
A |
G |
14: 68,763,748 (GRCm39) |
|
probably benign |
Het |
| Cbx8 |
T |
C |
11: 118,931,676 (GRCm39) |
M1V |
probably null |
Het |
| Cdc73 |
T |
C |
1: 143,575,019 (GRCm39) |
D58G |
probably benign |
Het |
| Cgnl1 |
G |
A |
9: 71,628,994 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
G |
A |
4: 63,183,868 (GRCm39) |
|
probably benign |
Het |
| Fam133b |
T |
C |
5: 3,604,626 (GRCm39) |
|
probably benign |
Het |
| Fndc3a |
A |
G |
14: 72,803,638 (GRCm39) |
|
probably benign |
Het |
| Golga3 |
G |
A |
5: 110,352,709 (GRCm39) |
A867T |
probably benign |
Het |
| Gpr142 |
A |
T |
11: 114,695,185 (GRCm39) |
Y50F |
probably benign |
Het |
| Gramd1c |
A |
G |
16: 43,803,865 (GRCm39) |
|
probably benign |
Het |
| Gypa |
G |
A |
8: 81,223,382 (GRCm39) |
V53I |
unknown |
Het |
| H2-DMb2 |
T |
C |
17: 34,369,561 (GRCm39) |
V235A |
probably benign |
Het |
| Igkv10-94 |
T |
C |
6: 68,681,482 (GRCm39) |
|
probably benign |
Het |
| Katnip |
A |
C |
7: 125,451,195 (GRCm39) |
M1109L |
probably benign |
Het |
| Klhl17 |
T |
C |
4: 156,315,419 (GRCm39) |
Y484C |
probably damaging |
Het |
| Ltbp3 |
T |
C |
19: 5,795,456 (GRCm39) |
|
probably benign |
Het |
| Mapkbp1 |
G |
A |
2: 119,845,885 (GRCm39) |
C412Y |
probably damaging |
Het |
| Mblac2 |
C |
A |
13: 81,859,845 (GRCm39) |
C65* |
probably null |
Het |
| Or5b104 |
T |
A |
19: 13,072,494 (GRCm39) |
N173Y |
possibly damaging |
Het |
| Or6c217 |
A |
G |
10: 129,737,946 (GRCm39) |
I211T |
probably benign |
Het |
| Parn |
G |
A |
16: 13,482,593 (GRCm39) |
T85M |
probably benign |
Het |
| Pcdhb22 |
T |
C |
18: 37,653,643 (GRCm39) |
S704P |
probably damaging |
Het |
| Prex1 |
A |
G |
2: 166,427,827 (GRCm39) |
F942L |
possibly damaging |
Het |
| Prox1 |
G |
T |
1: 189,879,140 (GRCm39) |
|
probably benign |
Het |
| Prss55 |
A |
T |
14: 64,319,147 (GRCm39) |
I70N |
probably damaging |
Het |
| Slc25a13 |
C |
T |
6: 6,113,937 (GRCm39) |
|
probably null |
Het |
| Smarca2 |
T |
C |
19: 26,749,011 (GRCm39) |
|
probably null |
Het |
| Smarcc2 |
C |
A |
10: 128,297,247 (GRCm39) |
N46K |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,703,769 (GRCm39) |
Y22F |
probably benign |
Het |
| Tgfbr1 |
T |
A |
4: 47,396,587 (GRCm39) |
|
probably null |
Het |
| Xpr1 |
A |
C |
1: 155,292,949 (GRCm39) |
I11S |
probably damaging |
Het |
| Zfp354b |
A |
C |
11: 50,814,297 (GRCm39) |
S209R |
probably benign |
Het |
| Zfp882 |
A |
G |
8: 72,667,317 (GRCm39) |
E88G |
probably 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 |
|
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'- TGTGACTGGCACCTAACACATGAC -3'
(R):5'- GACATGCACGTTTGTGAGAGTTTCC -3'
Sequencing Primer
(F):5'- TGGCACCTAACACATGACAGTAG -3'
(R):5'- GAACCTGTCAGTTTACAGTAGAGC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation