Incidental Mutation 'R4038:Ate1'
ID 313797
Institutional Source Beutler Lab
Gene Symbol Ate1
Ensembl Gene ENSMUSG00000030850
Gene Name arginyltransferase 1
Synonyms
MMRRC Submission 040965-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4038 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 129993223-130122099 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130106495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 282 (S282P)
Ref Sequence ENSEMBL: ENSMUSP00000091556 (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: S289P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033139
Gene: ENSMUSG00000030850
AA Change: S289P

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: S282P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091556
Gene: ENSMUSG00000030850
AA Change: S282P

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: S25P
Predicted Effect probably benign
Transcript: ENSMUST00000207141
Predicted Effect probably damaging
Transcript: ENSMUST00000216011
AA Change: S289P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.8193 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.1%
Validation Efficiency 93% (39/42)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna1d T A 14: 29,788,040 (GRCm39) Q1610L probably damaging Het
Carmil2 C A 8: 106,422,039 (GRCm39) R1103S probably damaging Het
Clca3a1 T A 3: 144,460,994 (GRCm39) Y219F probably benign Het
Creb3l3 A G 10: 80,925,172 (GRCm39) V224A probably benign Het
Crnkl1 T A 2: 145,774,247 (GRCm39) D72V possibly damaging Het
Dhcr24 T C 4: 106,431,075 (GRCm39) F255L probably benign Het
Eef2kmt A T 16: 5,063,135 (GRCm39) V335D probably damaging Het
Elp2 T A 18: 24,767,405 (GRCm39) W696R probably damaging Het
Glb1l3 A C 9: 26,740,343 (GRCm39) M329R probably damaging Het
Gm4787 A T 12: 81,425,132 (GRCm39) F342Y probably damaging Het
Gpr137c C A 14: 45,457,687 (GRCm39) L80I probably damaging Het
Gpr83 A G 9: 14,772,073 (GRCm39) I82V possibly damaging Het
Greb1l C T 18: 10,515,209 (GRCm39) T558I possibly damaging Het
Hnrnpul2 T A 19: 8,800,591 (GRCm39) probably benign Het
Hspa2 T C 12: 76,452,542 (GRCm39) V412A probably damaging Het
Iqcd T C 5: 120,740,587 (GRCm39) V306A probably damaging Het
Lmod3 T C 6: 97,225,275 (GRCm39) N182S probably benign Het
Metrn T C 17: 26,013,984 (GRCm39) T281A probably benign Het
Mid1-ps1 G A Y: 90,773,563 (GRCm39) noncoding transcript Het
Mmachc T A 4: 116,563,215 (GRCm39) T47S probably damaging Het
Nfia C A 4: 97,909,074 (GRCm39) R277S probably damaging Het
Or9m2 T A 2: 87,821,262 (GRCm39) I269N possibly damaging Het
Pcdha8 T C 18: 37,125,914 (GRCm39) M132T probably benign Het
Prkaa2 T C 4: 104,908,444 (GRCm39) N144D probably damaging Het
Ptprf C T 4: 118,114,805 (GRCm39) R150H probably damaging Het
Sfmbt1 T G 14: 30,509,449 (GRCm39) D309E probably damaging Het
Skint5 G T 4: 113,743,011 (GRCm39) T352K unknown Het
Slc16a10 G C 10: 39,932,620 (GRCm39) H314D possibly damaging Het
Slc28a2 C A 2: 122,284,996 (GRCm39) A328E probably benign Het
Ssc4d C A 5: 135,999,170 (GRCm39) W11L possibly damaging Het
Sycp2 C A 2: 178,022,720 (GRCm39) M470I possibly damaging Het
Tfap2c A T 2: 172,398,110 (GRCm39) S413C probably damaging Het
Unc13c A G 9: 73,441,188 (GRCm39) probably null Het
Vmn1r218 T C 13: 23,320,971 (GRCm39) V26A possibly damaging Het
Wipf3 G A 6: 54,458,813 (GRCm39) G56D probably damaging Het
Wiz T C 17: 32,578,198 (GRCm39) E429G probably damaging Het
Zer1 T C 2: 29,997,535 (GRCm39) N457S probably damaging Het
Zfp931 T A 2: 177,709,777 (GRCm39) Q203L possibly damaging Het
Other mutations in Ate1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CAGAATGTCCACTCACTCAGTC -3'
(R):5'- TGTCAGTTTACAGTAGAGCTAGG -3'

Sequencing Primer
(F):5'- AGAATGTCCACTCACTCAGTCTTATC -3'
(R):5'- TCAGTGGTAAGGCTTAAATTTAGAGG -3'
Posted On 2015-04-30