Incidental Mutation 'R9155:Ate1'
ID 695305
Institutional Source Beutler Lab
Gene Symbol Ate1
Ensembl Gene ENSMUSG00000030850
Gene Name arginyltransferase 1
Synonyms
MMRRC Submission 068941-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9155 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 129993223-130122099 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129996463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 459 (D459G)
Ref Sequence ENSEMBL: ENSMUSP00000043365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033139] [ENSMUST00000035458] [ENSMUST00000094017] [ENSMUST00000124096] [ENSMUST00000178534] [ENSMUST00000216011]
AlphaFold Q9Z2A5
Predicted Effect
SMART Domains Protein: ENSMUSP00000033139
Gene: ENSMUSG00000030850
AA Change: D459G

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 damaging
Transcript: ENSMUST00000035458
AA Change: D459G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043365
Gene: ENSMUSG00000030850
AA Change: D459G

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: D452G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091556
Gene: ENSMUSG00000030850
AA Change: D452G

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 damaging
Transcript: ENSMUST00000178534
AA Change: D452G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136956
Gene: ENSMUSG00000030850
AA Change: D452G

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
Predicted Effect probably damaging
Transcript: ENSMUST00000216011
AA Change: D502G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik A G 5: 107,691,811 (GRCm39) E34G probably damaging Het
Aldh1a3 A T 7: 66,058,867 (GRCm39) L157* probably null Het
Asic2 T A 11: 80,784,872 (GRCm39) T356S probably benign Het
Cacna1g T A 11: 94,350,423 (GRCm39) Q474L Het
Calhm6 T C 10: 34,002,363 (GRCm39) E240G probably damaging Het
Carf C A 1: 60,189,842 (GRCm39) T689K possibly damaging Het
Carmil2 A G 8: 106,412,922 (GRCm39) D6G probably benign Het
Ccnd2 A C 6: 127,127,663 (GRCm39) V25G probably damaging Het
Ccnk T A 12: 108,159,978 (GRCm39) F153L probably damaging Het
Cdh23 C T 10: 60,249,485 (GRCm39) G808E probably damaging Het
Clec11a C T 7: 43,954,317 (GRCm39) R212Q probably damaging Het
Cog4 T C 8: 111,608,384 (GRCm39) W749R probably damaging Het
Col6a3 T A 1: 90,738,301 (GRCm39) T1073S probably benign Het
Col6a4 T A 9: 105,952,209 (GRCm39) D563V probably benign Het
Coq5 A G 5: 115,433,839 (GRCm39) probably null Het
Crebbp A C 16: 3,914,346 (GRCm39) H1292Q probably damaging Het
Csmd3 C A 15: 47,449,051 (GRCm39) G2737W Het
Ddrgk1 T C 2: 130,500,227 (GRCm39) Y223C probably damaging Het
Dennd1c T C 17: 57,373,796 (GRCm39) Q589R probably benign Het
Dnah10 A G 5: 124,907,475 (GRCm39) D4336G probably damaging Het
Dnah11 C T 12: 117,991,251 (GRCm39) E2372K probably damaging Het
E330034G19Rik A T 14: 24,346,938 (GRCm39) Q140L possibly damaging Het
Ergic3 A G 2: 155,850,780 (GRCm39) Y83C probably damaging Het
Fam171a2 A T 11: 102,329,497 (GRCm39) S421T probably benign Het
Fndc3a T A 14: 72,921,162 (GRCm39) H4L possibly damaging Het
Gid8 T A 2: 180,359,756 (GRCm39) Y213* probably null Het
Hephl1 G T 9: 15,000,375 (GRCm39) H292Q probably damaging Het
Hexb T C 13: 97,314,414 (GRCm39) Y443C probably damaging Het
Htr1f C T 16: 64,746,788 (GRCm39) R168H probably benign Het
Hus1 A G 11: 8,956,056 (GRCm39) I159T probably damaging Het
Inha A G 1: 75,486,133 (GRCm39) T143A probably benign Het
Itga8 A G 2: 12,194,330 (GRCm39) I690T probably benign Het
Itgae G T 11: 73,016,089 (GRCm39) C766F possibly damaging Het
Kank4 T C 4: 98,666,563 (GRCm39) E628G probably benign Het
Kctd19 T C 8: 106,120,571 (GRCm39) H221R probably benign Het
Llgl1 A G 11: 60,597,934 (GRCm39) E351G probably benign Het
Lrba A G 3: 86,202,508 (GRCm39) Y253C probably damaging Het
Lrp2 T A 2: 69,291,713 (GRCm39) R3489* probably null Het
Lrriq1 T C 10: 103,050,640 (GRCm39) N704S probably benign Het
Mbtps1 T C 8: 120,235,693 (GRCm39) N995S probably benign Het
Mga T C 2: 119,757,013 (GRCm39) C1077R probably damaging Het
Muc21 G A 17: 35,932,131 (GRCm39) P685L unknown Het
Ndufv1 A T 19: 4,059,912 (GRCm39) C142S probably damaging Het
Nkx3-1 T C 14: 69,429,660 (GRCm39) L226P probably damaging Het
Nsd1 C T 13: 55,361,253 (GRCm39) R74W probably damaging Het
Or12k8 A C 2: 36,975,016 (GRCm39) M248R probably benign Het
Or1d2 A G 11: 74,255,791 (GRCm39) T99A probably benign Het
Or2n1d A T 17: 38,646,224 (GRCm39) M59L probably damaging Het
Or5b99 G A 19: 12,976,428 (GRCm39) C26Y probably benign Het
Or7g35 A T 9: 19,496,379 (GRCm39) D182V probably benign Het
Phc3 A G 3: 30,968,691 (GRCm39) V812A probably benign Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Ppp4c A T 7: 126,386,419 (GRCm39) C193S possibly damaging Het
Rbbp5 C A 1: 132,422,023 (GRCm39) P308T probably damaging Het
Rhot1 A G 11: 80,148,380 (GRCm39) T607A probably null Het
Secisbp2l G A 2: 125,617,623 (GRCm39) P18L probably damaging Het
Slc27a4 G A 2: 29,701,294 (GRCm39) G362S probably damaging Het
Slc4a8 T C 15: 100,672,571 (GRCm39) Y36H probably damaging Het
Sox17 T C 1: 4,562,447 (GRCm39) Y251C probably damaging Het
Spata31h1 A T 10: 82,120,203 (GRCm39) I4269N probably damaging Het
Taf4b T C 18: 14,946,296 (GRCm39) V373A probably benign Het
Tecpr2 T A 12: 110,881,184 (GRCm39) V107E probably damaging Het
Them7 A G 2: 105,209,124 (GRCm39) Y148C probably damaging Het
Tktl2 T A 8: 66,965,858 (GRCm39) M472K possibly damaging Het
Ttn C T 2: 76,625,937 (GRCm39) V15041I probably damaging Het
Ubr1 A G 2: 120,754,615 (GRCm39) V751A possibly damaging Het
Vmn1r213 A T 13: 23,196,343 (GRCm39) R309* probably null Het
Vmn2r10 A T 5: 109,144,212 (GRCm39) D579E probably benign Het
Vmn2r118 T C 17: 55,917,207 (GRCm39) Q435R probably null Het
Vmn2r50 A T 7: 9,781,571 (GRCm39) H391Q probably damaging Het
Zbtb44 A T 9: 30,965,309 (GRCm39) I240F 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
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
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'- TCTGAACAGCAGCATCCTCTC -3'
(R):5'- GTGACTCACTCCTTGTCTGCAG -3'

Sequencing Primer
(F):5'- CCGAGCACTTCTGTCCTACGAG -3'
(R):5'- CTCCCAGGAGAGTGGAATTAGCATC -3'
Posted On 2022-01-20