Incidental Mutation 'R3950:Ate1'
ID307866
Institutional Source Beutler Lab
Gene Symbol Ate1
Ensembl Gene ENSMUSG00000030850
Gene Namearginyltransferase 1
Synonyms
MMRRC Submission 040930-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R3950 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location130391493-130520369 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 130467292 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 415 (Y415C)
Ref Sequence ENSEMBL: ENSMUSP00000148888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033139] [ENSMUST00000035458] [ENSMUST00000094017] [ENSMUST00000124096] [ENSMUST00000178534] [ENSMUST00000216011]
Predicted Effect probably damaging
Transcript: ENSMUST00000033139
AA Change: Y372C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033139
Gene: ENSMUSG00000030850
AA Change: Y372C

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: Y372C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043365
Gene: ENSMUSG00000030850
AA Change: Y372C

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: Y365C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091556
Gene: ENSMUSG00000030850
AA Change: Y365C

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: Y365C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136956
Gene: ENSMUSG00000030850
AA Change: Y365C

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: Y97C
Predicted Effect probably damaging
Transcript: ENSMUST00000216011
AA Change: Y415C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,664,403 probably null Het
Ahnak2 A T 12: 112,785,789 I186N probably damaging Het
Appbp2 A G 11: 85,194,706 I458T probably damaging Het
Arhgef25 T C 10: 127,185,144 Y291C probably damaging Het
B4galt4 G T 16: 38,768,022 A72S probably benign Het
C3 T C 17: 57,225,286 R178G probably benign Het
Cdh23 T C 10: 60,657,326 Y3C probably benign Het
Col11a1 T C 3: 114,121,445 probably null Het
Col22a1 A G 15: 71,977,358 F294L possibly damaging Het
Dera A G 6: 137,837,120 Y100C probably damaging Het
Dync2h1 A T 9: 7,112,061 Y276* probably null Het
Eea1 A T 10: 96,042,134 N1389I probably damaging Het
Epha4 A T 1: 77,399,716 Y509N probably damaging Het
Fat3 G A 9: 15,998,271 S2145F probably damaging Het
Fezf1 T A 6: 23,247,420 K219* probably null Het
Fsd1 G A 17: 55,995,517 probably null Het
Haspin A G 11: 73,136,395 Y623H probably damaging Het
Hsd3b1 C T 3: 98,856,138 V56M possibly damaging Het
Hyou1 C T 9: 44,385,227 T483I probably damaging Het
Kdm2a A G 19: 4,343,232 L365S possibly damaging Het
Kdm6b G T 11: 69,405,615 P609T probably damaging Het
Klhl18 T A 9: 110,428,902 Y490F probably damaging Het
Ky C T 9: 102,542,428 Q545* probably null Het
L1td1 T C 4: 98,737,353 L595P probably benign Het
Map3k20 T G 2: 72,438,300 I550M probably damaging Het
Mug1 T A 6: 121,878,530 V941E probably damaging Het
Ndst1 T C 18: 60,697,139 N633S probably benign Het
Ninl A T 2: 150,952,488 I740K possibly damaging Het
Npepl1 A G 2: 174,121,113 N431D probably damaging Het
Olfr1128 T C 2: 87,545,065 T160A probably damaging Het
Pacs2 T C 12: 113,061,113 S408P probably damaging Het
Pard6b C T 2: 168,099,194 T367I probably damaging Het
Pcdhga7 A G 18: 37,716,515 E525G probably damaging Het
Pctp A G 11: 89,987,318 I130T probably benign Het
Pcx C T 19: 4,617,967 H506Y probably benign Het
Pdhx A G 2: 103,035,241 S199P probably damaging Het
Pdia2 C A 17: 26,197,616 probably null Het
Pif1 C A 9: 65,591,834 N445K probably damaging Het
Prickle4 T C 17: 47,688,582 K349E probably benign Het
Ptch1 T G 13: 63,524,959 E944A probably benign Het
Ptpdc1 A T 13: 48,589,194 M173K probably damaging Het
Rb1 A G 14: 73,262,662 L515P probably damaging Het
Rcvrn A G 11: 67,700,051 K154E probably damaging Het
Ros1 C T 10: 52,066,388 V2059I probably damaging Het
Rtn4ip1 T A 10: 43,909,897 probably null Het
Sema5a T C 15: 32,689,338 Y1050H probably damaging Het
Slc25a28 C T 19: 43,664,269 V318I probably benign Het
Srek1 G A 13: 103,744,895 R408W unknown Het
Synrg C T 11: 83,989,815 T444I probably damaging Het
Ticrr T C 7: 79,682,069 L776S probably damaging Het
Tmem127 T C 2: 127,248,657 L31P probably damaging Het
Tmprss15 T A 16: 79,073,186 T190S probably benign Het
Trip10 T A 17: 57,253,411 probably null Het
Ttc6 A G 12: 57,649,506 Y31C probably damaging Het
Unc80 A T 1: 66,622,570 H1718L possibly damaging Het
Zbtb38 A G 9: 96,687,546 F495S probably damaging Het
Zfp280d G T 9: 72,296,019 Q16H possibly damaging Het
Zfp521 A G 18: 13,846,346 S337P probably damaging Het
Zswim9 T A 7: 13,261,577 T218S possibly damaging Het
Other mutations in Ate1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02978:Ate1 APN 7 130394740 splice site probably benign
R0025:Ate1 UTSW 7 130503793 missense probably damaging 1.00
R0615:Ate1 UTSW 7 130513833 splice site probably benign
R1293:Ate1 UTSW 7 130394725 missense probably benign 0.03
R1299:Ate1 UTSW 7 130504755 missense probably damaging 0.99
R1476:Ate1 UTSW 7 130418571 splice site probably null
R1555:Ate1 UTSW 7 130509091 missense probably benign
R2061:Ate1 UTSW 7 130510913 missense probably damaging 1.00
R2358:Ate1 UTSW 7 130516165 missense probably damaging 0.99
R3840:Ate1 UTSW 7 130516137 missense probably damaging 1.00
R4038:Ate1 UTSW 7 130504765 missense probably damaging 1.00
R4716:Ate1 UTSW 7 130513781 missense probably damaging 1.00
R4954:Ate1 UTSW 7 130509018 missense probably benign 0.34
R5151:Ate1 UTSW 7 130507664 missense possibly damaging 0.77
R5796:Ate1 UTSW 7 130467268 missense probably damaging 1.00
R6297:Ate1 UTSW 7 130503840 missense probably damaging 1.00
R7146:Ate1 UTSW 7 130481778 intron probably null
R7250:Ate1 UTSW 7 130519971 unclassified probably benign
R7291:Ate1 UTSW 7 130519931 missense probably benign
R7547:Ate1 UTSW 7 130504809 missense not run
X0011:Ate1 UTSW 7 130394661 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCATGTGCATGTGAGTATATACATGC -3'
(R):5'- ATGACTTCCTGCTGCTGTGC -3'

Sequencing Primer
(F):5'- AGTGCTGGCAACTGAATTCC -3'
(R):5'- GCCTGTGTCTGCTTCTTCATAGG -3'
Posted On2015-04-17