Incidental Mutation 'R6820:Accs'
ID 537551
Institutional Source Beutler Lab
Gene Symbol Accs
Ensembl Gene ENSMUSG00000040272
Gene Name 1-aminocyclopropane-1-carboxylate synthase (inactive)
Synonyms 2610203E10Rik
MMRRC Submission 044932-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R6820 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 93663812-93680288 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 93673266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 141 (N141Y)
Ref Sequence ENSEMBL: ENSMUSP00000114687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041593] [ENSMUST00000068513] [ENSMUST00000111246] [ENSMUST00000130077]
AlphaFold A2AIG8
Predicted Effect probably null
Transcript: ENSMUST00000041593
AA Change: N141Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036268
Gene: ENSMUSG00000040272
AA Change: N141Y

DomainStartEndE-ValueType
low complexity region 35 43 N/A INTRINSIC
Pfam:Aminotran_1_2 74 448 1.9e-59 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000068513
AA Change: N141Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065389
Gene: ENSMUSG00000040272
AA Change: N141Y

DomainStartEndE-ValueType
low complexity region 35 43 N/A INTRINSIC
Pfam:Aminotran_1_2 74 448 1.9e-59 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000111246
AA Change: N164Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106877
Gene: ENSMUSG00000040272
AA Change: N164Y

DomainStartEndE-ValueType
low complexity region 58 66 N/A INTRINSIC
Pfam:Aminotran_1_2 97 471 2.1e-58 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000130077
AA Change: N141Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114687
Gene: ENSMUSG00000040272
AA Change: N141Y

DomainStartEndE-ValueType
low complexity region 35 43 N/A INTRINSIC
Pfam:Aminotran_1_2 74 157 2.5e-8 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000119096
Gene: ENSMUSG00000040272
AA Change: N71Y

DomainStartEndE-ValueType
SCOP:d1b8ga_ 2 72 7e-9 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (46/47)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Chkb A G 15: 89,312,379 (GRCm39) L46P probably damaging Het
Col9a3 G A 2: 180,248,927 (GRCm39) V260M probably damaging Het
Dna2 T C 10: 62,800,683 (GRCm39) I739T possibly damaging Het
Dnah17 T C 11: 117,959,826 (GRCm39) H2620R probably damaging Het
Dsel A G 1: 111,787,547 (GRCm39) V996A probably damaging Het
Dst T C 1: 34,250,337 (GRCm39) L1757S probably damaging Het
Exoc5 A T 14: 49,286,387 (GRCm39) probably null Het
Fam120a A T 13: 49,034,468 (GRCm39) V1048E possibly damaging Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fbxw19 T A 9: 109,311,079 (GRCm39) T377S probably benign Het
Fbxw28 A T 9: 109,167,493 (GRCm39) F88Y probably damaging Het
Grik5 C T 7: 24,745,780 (GRCm39) R431Q possibly damaging Het
Gtsf1 T C 15: 103,328,954 (GRCm39) T92A probably benign Het
Hoxc13 A G 15: 102,830,257 (GRCm39) Y212C probably damaging Het
Itih2 T C 2: 10,102,909 (GRCm39) I742V probably benign Het
Kat7 T C 11: 95,174,965 (GRCm39) T351A probably damaging Het
Mlh3 T C 12: 85,294,497 (GRCm39) D1233G probably damaging Het
Mroh2b A G 15: 4,982,756 (GRCm39) D1525G probably damaging Het
Nme5 T C 18: 34,704,626 (GRCm39) Y73C probably damaging Het
Nr3c2 T C 8: 77,969,086 (GRCm39) V957A probably damaging Het
Nup153 A G 13: 46,863,459 (GRCm39) S301P probably benign Het
Obscn T C 11: 58,942,019 (GRCm39) D5013G probably damaging Het
Or4f54 C T 2: 111,123,455 (GRCm39) P281S probably damaging Het
Or5p51 A G 7: 107,444,298 (GRCm39) V214A probably benign Het
Or8g51 A G 9: 38,608,771 (GRCm39) V297A possibly damaging Het
Pak1 A G 7: 97,535,586 (GRCm39) N226D probably benign Het
Pak4 A G 7: 28,262,461 (GRCm39) Y384H probably benign Het
Pkp3 T C 7: 140,659,757 (GRCm39) probably null Het
Prxl2b A T 4: 154,982,623 (GRCm39) D50E probably damaging Het
Psd G T 19: 46,309,283 (GRCm39) A558E probably damaging Het
Psmd14 C A 2: 61,607,068 (GRCm39) H172N probably benign Het
Pygb G T 2: 150,658,674 (GRCm39) W366L possibly damaging Het
Rbm39 A T 2: 156,021,146 (GRCm39) M1K probably null Het
Rnf213 T C 11: 119,339,664 (GRCm39) I3421T probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Smg6 T C 11: 74,932,790 (GRCm39) V88A probably damaging Het
Tha1 T C 11: 117,762,504 (GRCm39) E80G probably benign Het
Tie1 A G 4: 118,341,583 (GRCm39) V243A probably damaging Het
Tmem215 T C 4: 40,473,926 (GRCm39) M1T probably null Het
Tpm2 A G 4: 43,518,443 (GRCm39) Y221H probably damaging Het
Ubap1 C T 4: 41,379,854 (GRCm39) P356L probably benign Het
Wbp2nl G T 15: 82,197,996 (GRCm39) A178S possibly damaging Het
Wdr54 A T 6: 83,131,601 (GRCm39) S139T probably benign Het
Wipi2 G C 5: 142,615,555 (GRCm39) Q14H probably benign Het
Zan T C 5: 137,406,106 (GRCm39) probably benign Het
Zfp735 A G 11: 73,579,783 (GRCm39) M1V probably null Het
Other mutations in Accs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01514:Accs APN 2 93,669,587 (GRCm39) splice site probably benign
IGL02704:Accs APN 2 93,673,271 (GRCm39) missense probably damaging 0.99
IGL02724:Accs APN 2 93,676,121 (GRCm39) missense probably damaging 1.00
IGL02929:Accs APN 2 93,674,566 (GRCm39) missense probably damaging 1.00
PIT4243001:Accs UTSW 2 93,671,679 (GRCm39) missense probably benign
R0043:Accs UTSW 2 93,672,230 (GRCm39) missense probably benign 0.03
R0644:Accs UTSW 2 93,669,574 (GRCm39) missense probably damaging 1.00
R1712:Accs UTSW 2 93,678,448 (GRCm39) missense probably damaging 0.96
R2215:Accs UTSW 2 93,672,243 (GRCm39) missense probably benign 0.00
R4755:Accs UTSW 2 93,671,682 (GRCm39) missense probably damaging 1.00
R4852:Accs UTSW 2 93,674,605 (GRCm39) missense probably damaging 1.00
R4997:Accs UTSW 2 93,672,228 (GRCm39) nonsense probably null
R5287:Accs UTSW 2 93,666,298 (GRCm39) missense probably damaging 1.00
R5556:Accs UTSW 2 93,666,428 (GRCm39) missense probably damaging 1.00
R5760:Accs UTSW 2 93,676,105 (GRCm39) missense probably damaging 1.00
R5942:Accs UTSW 2 93,666,392 (GRCm39) missense probably damaging 1.00
R5972:Accs UTSW 2 93,669,572 (GRCm39) missense probably damaging 1.00
R7513:Accs UTSW 2 93,670,437 (GRCm39) missense possibly damaging 0.94
R7861:Accs UTSW 2 93,666,077 (GRCm39) makesense probably null
R7947:Accs UTSW 2 93,674,602 (GRCm39) missense probably damaging 1.00
R8038:Accs UTSW 2 93,673,262 (GRCm39) critical splice donor site probably null
R8404:Accs UTSW 2 93,668,460 (GRCm39) missense probably damaging 1.00
R8502:Accs UTSW 2 93,668,460 (GRCm39) missense probably damaging 1.00
R8876:Accs UTSW 2 93,668,403 (GRCm39) missense probably damaging 1.00
R9211:Accs UTSW 2 93,668,614 (GRCm39) missense probably damaging 1.00
R9369:Accs UTSW 2 93,666,093 (GRCm39) nonsense probably null
Z1177:Accs UTSW 2 93,678,498 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCAAGCTGATTTCTGGGCAC -3'
(R):5'- GCTGAAGTGGAGATAAATGTCTGC -3'

Sequencing Primer
(F):5'- CACCTTGCTCTTGATTAAGGGAATG -3'
(R):5'- ATAAATGTCTGCTACTTTGGGAAGG -3'
Posted On 2018-10-18