Incidental Mutation 'R5796:Ate1'
| ID |
447230 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ate1
|
| Ensembl Gene |
ENSMUSG00000030850 |
| Gene Name |
arginyltransferase 1 |
| Synonyms |
|
| MMRRC Submission |
043387-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5796 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
129993223-130122099 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 130068998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 423
(Y423C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148888
(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: Y380C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033139
Gene: ENSMUSG00000030850
AA Change: Y380C
| 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: Y380C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043365
Gene: ENSMUSG00000030850
AA Change: Y380C
| 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: Y373C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091556
Gene: ENSMUSG00000030850
AA Change: Y373C
| 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: Y373C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136956
Gene: ENSMUSG00000030850
AA Change: Y373C
| 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: Y105C
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216011
AA Change: Y423C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.9588 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
93% (51/55) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,215,077 (GRCm39) |
T9A |
possibly damaging |
Het |
| Abcd3 |
G |
A |
3: 121,578,147 (GRCm39) |
R160W |
probably damaging |
Het |
| Ap3d1 |
G |
T |
10: 80,549,871 (GRCm39) |
T758K |
possibly damaging |
Het |
| Bsn |
C |
T |
9: 108,003,223 (GRCm39) |
G394D |
probably damaging |
Het |
| Cacna1d |
T |
C |
14: 29,788,073 (GRCm39) |
D1599G |
probably damaging |
Het |
| Cd33 |
A |
G |
7: 43,182,480 (GRCm39) |
|
probably null |
Het |
| Chct1 |
A |
G |
11: 85,064,101 (GRCm39) |
T81A |
probably null |
Het |
| Col12a1 |
T |
C |
9: 79,611,111 (GRCm39) |
N154D |
possibly damaging |
Het |
| Crocc |
TCTGAGCTGCTGAGCTGC |
TCTGAGCTGC |
4: 140,769,118 (GRCm39) |
|
probably null |
Het |
| Cts3 |
A |
T |
13: 61,716,517 (GRCm39) |
Y40N |
probably damaging |
Het |
| Cyfip2 |
T |
C |
11: 46,089,823 (GRCm39) |
N1197D |
probably benign |
Het |
| Dclre1b |
G |
A |
3: 103,714,773 (GRCm39) |
Q77* |
probably null |
Het |
| Dsc3 |
T |
A |
18: 20,104,558 (GRCm39) |
M590L |
probably benign |
Het |
| Efcab14 |
A |
T |
4: 115,603,780 (GRCm39) |
I153F |
probably damaging |
Het |
| Fbxo42 |
T |
C |
4: 140,927,100 (GRCm39) |
V460A |
probably benign |
Het |
| Fgl1 |
T |
G |
8: 41,652,796 (GRCm39) |
|
probably benign |
Het |
| Gbf1 |
T |
C |
19: 46,272,782 (GRCm39) |
S1697P |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm15056 |
C |
A |
8: 21,391,998 (GRCm39) |
|
probably benign |
Het |
| Gm17409 |
T |
A |
2: 58,361,034 (GRCm39) |
|
probably benign |
Het |
| Gm20730 |
A |
G |
6: 43,058,464 (GRCm39) |
L116P |
probably damaging |
Het |
| Grb2 |
T |
G |
11: 115,536,698 (GRCm39) |
H184P |
probably benign |
Het |
| Hepacam2 |
G |
C |
6: 3,466,200 (GRCm39) |
|
probably null |
Het |
| Hsd3b9 |
A |
T |
3: 98,354,168 (GRCm39) |
D110E |
probably benign |
Het |
| Igkv4-55 |
T |
A |
6: 69,584,432 (GRCm39) |
K60M |
possibly damaging |
Het |
| Itfg1 |
T |
A |
8: 86,445,522 (GRCm39) |
H603L |
probably damaging |
Het |
| Katna1 |
C |
A |
10: 7,636,575 (GRCm39) |
D366E |
probably damaging |
Het |
| Klk1b26 |
A |
G |
7: 43,665,752 (GRCm39) |
Y188C |
probably damaging |
Het |
| Ldhd |
T |
C |
8: 112,353,722 (GRCm39) |
T464A |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,411,133 (GRCm39) |
S1360P |
unknown |
Het |
| Nckipsd |
T |
G |
9: 108,688,813 (GRCm39) |
V116G |
probably benign |
Het |
| Nhsl1 |
C |
T |
10: 18,399,998 (GRCm39) |
S374L |
probably benign |
Het |
| Oxt |
G |
A |
2: 130,418,533 (GRCm39) |
G48D |
probably damaging |
Het |
| Pramel21 |
A |
G |
4: 143,341,778 (GRCm39) |
N69S |
probably benign |
Het |
| Ptprk |
C |
T |
10: 28,259,571 (GRCm39) |
T337I |
probably damaging |
Het |
| Rad54b |
A |
T |
4: 11,615,446 (GRCm39) |
D818V |
probably benign |
Het |
| Rbpjl |
T |
C |
2: 164,252,168 (GRCm39) |
|
probably benign |
Het |
| Recql5 |
T |
A |
11: 115,818,691 (GRCm39) |
|
probably benign |
Het |
| Robo4 |
A |
T |
9: 37,322,970 (GRCm39) |
D830V |
probably benign |
Het |
| Rps6kb1 |
C |
T |
11: 86,402,677 (GRCm39) |
G339S |
probably benign |
Het |
| Rtel1 |
G |
A |
2: 180,982,299 (GRCm39) |
E350K |
probably benign |
Het |
| Rtn3 |
A |
G |
19: 7,434,832 (GRCm39) |
S368P |
possibly damaging |
Het |
| Smad5 |
A |
G |
13: 56,871,645 (GRCm39) |
H80R |
probably damaging |
Het |
| Sppl2c |
T |
A |
11: 104,078,619 (GRCm39) |
M473K |
probably benign |
Het |
| Tbrg1 |
A |
G |
9: 37,563,871 (GRCm39) |
|
probably benign |
Het |
| Tcf7 |
A |
G |
11: 52,152,354 (GRCm39) |
I65T |
probably benign |
Het |
| Tgm2 |
T |
C |
2: 157,960,824 (GRCm39) |
D618G |
probably benign |
Het |
| Tuba3b |
C |
T |
6: 145,565,408 (GRCm39) |
T292I |
probably damaging |
Het |
| Vmn1r63 |
G |
A |
7: 5,806,140 (GRCm39) |
S164L |
probably benign |
Het |
| Zfp382 |
A |
G |
7: 29,832,774 (GRCm39) |
K142E |
probably damaging |
Het |
| Zmym3 |
G |
A |
X: 100,459,406 (GRCm39) |
P308L |
probably benign |
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 |
|
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'- CATGTGCATGTGAGTATATACATGC -3'
(R):5'- CTTCTTCATAGGCAGAGCACCC -3'
Sequencing Primer
(F):5'- AGTGCTGGCAACTGAATTCC -3'
(R):5'- CCTGCTGATGGACCAGAATGTG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation