Incidental Mutation 'R1555:Ate1'
ID 170224
Institutional Source Beutler Lab
Gene Symbol Ate1
Ensembl Gene ENSMUSG00000030850
Gene Name arginyltransferase 1
Synonyms
MMRRC Submission 039594-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1555 (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 130110821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 169 (F169I)
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 benign
Transcript: ENSMUST00000033139
AA Change: F169I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033139
Gene: ENSMUSG00000030850
AA Change: F169I

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
AA Change: F169I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043365
Gene: ENSMUSG00000030850
AA Change: F169I

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 benign
Transcript: ENSMUST00000094017
AA Change: F162I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000091556
Gene: ENSMUSG00000030850
AA Change: F162I

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
AA Change: F162I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136956
Gene: ENSMUSG00000030850
AA Change: F162I

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 probably benign
Transcript: ENSMUST00000207041
Predicted Effect probably benign
Transcript: ENSMUST00000207141
Predicted Effect probably benign
Transcript: ENSMUST00000216011
AA Change: F169I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.0%
Validation Efficiency 96% (43/45)
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
Ace A G 11: 105,865,727 (GRCm39) probably null Het
Adamts1 T A 16: 85,594,776 (GRCm39) T358S probably benign Het
Cdkl4 T A 17: 80,851,043 (GRCm39) probably benign Het
Clcnkb T C 4: 141,139,050 (GRCm39) probably null Het
Col6a4 C T 9: 105,878,085 (GRCm39) R1964Q possibly damaging Het
Dcakd C T 11: 102,891,039 (GRCm39) V17I probably damaging Het
Dcdc5 T G 2: 106,214,480 (GRCm39) noncoding transcript Het
Erc2 T A 14: 27,733,622 (GRCm39) D557E probably damaging Het
Grid2 A T 6: 64,406,668 (GRCm39) D676V possibly damaging Het
Hebp2 G T 10: 18,420,163 (GRCm39) T90K possibly damaging Het
Igkv10-96 C T 6: 68,609,365 (GRCm39) probably benign Het
Mier3 T A 13: 111,844,893 (GRCm39) N248K probably damaging Het
Myo5b A T 18: 74,702,853 (GRCm39) I15F probably damaging Het
Neurl3 A G 1: 36,305,613 (GRCm39) V198A probably benign Het
Notch2 C A 3: 98,038,656 (GRCm39) N1266K possibly damaging Het
Nup107 A G 10: 117,587,395 (GRCm39) probably benign Het
Or52e8b T C 7: 104,673,729 (GRCm39) I153V probably benign Het
Or6d14 A T 6: 116,533,787 (GRCm39) I134F probably damaging Het
Phf3 G T 1: 30,844,958 (GRCm39) H1334N possibly damaging Het
Phyhd1 T A 2: 30,164,718 (GRCm39) I100N probably damaging Het
Rad21l T A 2: 151,500,348 (GRCm39) T224S probably benign Het
Rxra C T 2: 27,638,690 (GRCm39) A231V probably benign Het
Sac3d1 T C 19: 6,168,435 (GRCm39) D61G probably damaging Het
Sbf1 A G 15: 89,189,279 (GRCm39) Y481H probably damaging Het
Spg11 T C 2: 121,927,858 (GRCm39) E642G probably damaging Het
Spta1 A G 1: 174,006,315 (GRCm39) Y159C probably damaging Het
Sry C G Y: 2,662,975 (GRCm39) Q228H unknown Het
Tedc1 G T 12: 113,120,117 (GRCm39) probably benign Het
Tmem200a A T 10: 25,869,782 (GRCm39) D162E probably damaging Het
Tmprss11e T A 5: 86,863,447 (GRCm39) Q206L probably damaging Het
Tpra1 A G 6: 88,887,185 (GRCm39) N175S probably damaging Het
Ttll10 T C 4: 156,119,596 (GRCm39) E601G probably benign Het
Ttll6 G T 11: 96,036,408 (GRCm39) D346Y probably damaging Het
U2surp A G 9: 95,348,630 (GRCm39) V874A probably damaging Het
Vwa5b1 T C 4: 138,332,788 (GRCm39) K258R probably benign Het
Xkr6 A G 14: 64,056,374 (GRCm39) Y95C unknown Het
Zfp180 T C 7: 23,800,999 (GRCm39) probably benign Het
Zfp90 A G 8: 107,150,727 (GRCm39) T147A probably benign 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
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'- CTGTGTTCACAGAGTTCAGGTTGATGA -3'
(R):5'- GGATTCTACAGTGGAGGATGCTGTTGA -3'

Sequencing Primer
(F):5'- gagaagagaggaggggagg -3'
(R):5'- CAGTGACCTCAAAGGAAGCA -3'
Posted On 2014-04-13