Incidental Mutation 'R4997:Accs'
ID 385318
Institutional Source Beutler Lab
Gene Symbol Accs
Ensembl Gene ENSMUSG00000040272
Gene Name 1-aminocyclopropane-1-carboxylate synthase (inactive)
Synonyms 2610203E10Rik
MMRRC Submission 042591-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R4997 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 93663812-93680288 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 93672228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 213 (Y213*)
Ref Sequence ENSEMBL: ENSMUSP00000106877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041593] [ENSMUST00000068513] [ENSMUST00000111246] [ENSMUST00000130077]
AlphaFold A2AIG8
Predicted Effect probably null
Transcript: ENSMUST00000041593
AA Change: Y190*
SMART Domains Protein: ENSMUSP00000036268
Gene: ENSMUSG00000040272
AA Change: Y190*

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: Y190*
SMART Domains Protein: ENSMUSP00000065389
Gene: ENSMUSG00000040272
AA Change: Y190*

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: Y213*
SMART Domains Protein: ENSMUSP00000106877
Gene: ENSMUSG00000040272
AA Change: Y213*

DomainStartEndE-ValueType
low complexity region 58 66 N/A INTRINSIC
Pfam:Aminotran_1_2 97 471 2.1e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128719
Predicted Effect probably benign
Transcript: ENSMUST00000130077
SMART Domains Protein: ENSMUSP00000114687
Gene: ENSMUSG00000040272

DomainStartEndE-ValueType
low complexity region 35 43 N/A INTRINSIC
Pfam:Aminotran_1_2 74 157 2.5e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140018
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146436
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146045
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148268
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141413
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149073
Predicted Effect probably benign
Transcript: ENSMUST00000150666
SMART Domains Protein: ENSMUSP00000119096
Gene: ENSMUSG00000040272

DomainStartEndE-ValueType
SCOP:d1b8ga_ 2 72 7e-9 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630023A22Rik A T 14: 33,775,623 (GRCm39) M1L probably benign Het
Abca7 C A 10: 79,843,154 (GRCm39) Q1210K possibly damaging Het
Abcc4 C T 14: 118,753,915 (GRCm39) W1024* probably null Het
Adam6a G T 12: 113,508,991 (GRCm39) G455C probably damaging Het
Adcy1 A C 11: 7,111,298 (GRCm39) Y863S probably benign Het
Adgrg1 A G 8: 95,736,148 (GRCm39) D434G probably damaging Het
Afap1l1 C T 18: 61,884,879 (GRCm39) R202Q probably benign Het
Aldh3a1 T C 11: 61,103,137 (GRCm39) V27A probably benign Het
Antxr2 A G 5: 98,125,553 (GRCm39) F235L probably benign Het
Arhgap23 T A 11: 97,342,846 (GRCm39) V376E probably damaging Het
Brca1 A C 11: 101,415,159 (GRCm39) S992A probably damaging Het
Brcc3dc A G 10: 108,535,649 (GRCm39) I102T probably benign Het
Calcrl A T 2: 84,181,592 (GRCm39) C185* probably null Het
Cep152 T C 2: 125,428,271 (GRCm39) T787A probably benign Het
Coch T A 12: 51,649,964 (GRCm39) probably null Het
Col5a1 T A 2: 27,922,794 (GRCm39) Y287* probably null Het
Dis3l A G 9: 64,219,224 (GRCm39) S569P possibly damaging Het
Dnai1 A G 4: 41,597,919 (GRCm39) I74V possibly damaging Het
Dpy19l4 A G 4: 11,287,493 (GRCm39) V394A probably benign Het
Egfem1 A G 3: 29,207,739 (GRCm39) H122R probably benign Het
Endou A G 15: 97,617,458 (GRCm39) L164P probably damaging Het
Epgn A G 5: 91,180,098 (GRCm39) E80G possibly damaging Het
Fcgbpl1 T G 7: 27,843,349 (GRCm39) S746A possibly damaging Het
Fitm1 T C 14: 55,814,364 (GRCm39) S287P probably benign Het
Foxm1 A G 6: 128,342,731 (GRCm39) N22D probably benign Het
Gsdmc A T 15: 63,648,629 (GRCm39) M426K probably damaging Het
Hmcn2 T A 2: 31,291,720 (GRCm39) V2418D probably damaging Het
Hs3st2 T A 7: 121,099,679 (GRCm39) L175Q possibly damaging Het
Il1r2 T C 1: 40,160,206 (GRCm39) probably null Het
Il27ra A T 8: 84,766,156 (GRCm39) Y209* probably null Het
Inpp5a A T 7: 138,980,654 (GRCm39) S31C probably benign Het
Invs A G 4: 48,396,332 (GRCm39) D335G probably damaging Het
Isg15 C T 4: 156,284,154 (GRCm39) E125K possibly damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lama4 C A 10: 38,968,262 (GRCm39) T1468K probably damaging Het
Lce1a2 A G 3: 92,576,395 (GRCm39) S56P unknown Het
Llgl1 C T 11: 60,600,394 (GRCm39) P581L probably benign Het
Lmf1 G A 17: 25,807,650 (GRCm39) W164* probably null Het
Mad2l1bp G T 17: 46,463,804 (GRCm39) C73* probably null Het
Mpzl1 A C 1: 165,429,350 (GRCm39) V230G probably damaging Het
Myo3b A G 2: 70,088,427 (GRCm39) T869A possibly damaging Het
Ncor2 T C 5: 125,111,074 (GRCm39) H1316R probably damaging Het
Nlrp1b T A 11: 71,109,160 (GRCm39) I114F probably damaging Het
Nsun7 A G 5: 66,453,182 (GRCm39) I632M probably benign Het
Nubp1 T C 16: 10,239,185 (GRCm39) I234T probably benign Het
Olfml1 A G 7: 107,170,413 (GRCm39) D100G probably damaging Het
Or1e1b-ps1 T A 11: 73,845,612 (GRCm39) L32Q probably damaging Het
Or5p73 C A 7: 108,064,701 (GRCm39) Q57K probably benign Het
Or7g23 A T 9: 19,086,627 (GRCm39) L115Q probably damaging Het
Osmr G T 15: 6,845,120 (GRCm39) P882Q probably benign Het
Peg10 TCAGGATCC TCAGGATCCCCAGCAGGATCC 6: 4,756,457 (GRCm39) probably benign Het
Per2 T A 1: 91,378,505 (GRCm39) T15S probably benign Het
Piezo2 A G 18: 63,216,184 (GRCm39) Y1184H probably damaging Het
Pik3c2b C T 1: 133,032,819 (GRCm39) A1560V probably damaging Het
Pik3cd A C 4: 149,743,441 (GRCm39) L256R probably damaging Het
Ppl C A 16: 4,907,235 (GRCm39) R1020L probably damaging Het
Ppp1r10 A G 17: 36,234,976 (GRCm39) N60S probably damaging Het
Prkcg T C 7: 3,371,097 (GRCm39) probably null Het
Prkci T C 3: 31,085,375 (GRCm39) probably null Het
Prrc2b A G 2: 32,112,323 (GRCm39) Y1929C probably damaging Het
Prss12 T C 3: 123,240,857 (GRCm39) V17A probably benign Het
Qtrt1 A G 9: 21,328,654 (GRCm39) N206S probably benign Het
Rad54l2 A C 9: 106,600,108 (GRCm39) S50A possibly damaging Het
Rhov C T 2: 119,100,949 (GRCm39) R96H probably damaging Het
Rph3a A T 5: 121,101,906 (GRCm39) V110E probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr2 A T 13: 11,610,192 (GRCm39) N646K probably benign Het
Scn8a A G 15: 100,854,935 (GRCm39) T141A probably damaging Het
Serping1 T C 2: 84,600,629 (GRCm39) R238G possibly damaging Het
Shank3 T A 15: 89,433,901 (GRCm39) W1474R probably damaging Het
Slc16a12 T A 19: 34,652,358 (GRCm39) M263L probably benign Het
Spata13 T C 14: 60,946,908 (GRCm39) V652A probably damaging Het
Spata31 G A 13: 65,067,537 (GRCm39) M66I probably benign Het
Spem2 T C 11: 69,708,558 (GRCm39) I136V probably benign Het
Supt5 T C 7: 28,015,462 (GRCm39) H925R probably benign Het
Syk A T 13: 52,766,484 (GRCm39) K190* probably null Het
Thsd1 T A 8: 22,733,340 (GRCm39) V129D probably damaging Het
Tiprl A G 1: 165,047,759 (GRCm39) V174A possibly damaging Het
Tmed4 T A 11: 6,224,500 (GRCm39) probably null Het
Tnfrsf19 T C 14: 61,208,658 (GRCm39) T288A probably benign Het
Tnfrsf25 T C 4: 152,202,153 (GRCm39) probably null Het
Tpd52 A G 3: 9,000,056 (GRCm39) L121S probably damaging Het
Trim30a T A 7: 104,060,827 (GRCm39) K316N probably benign Het
Ttc3 T G 16: 94,253,841 (GRCm39) D1221E probably damaging Het
Ttn C T 2: 76,714,403 (GRCm39) probably benign Het
Ttn T C 2: 76,776,615 (GRCm39) I1514V probably benign Het
Ulk2 T C 11: 61,689,982 (GRCm39) T671A probably benign Het
Wasf1 C T 10: 40,810,600 (GRCm39) P281S probably damaging Het
Wnt10b C A 15: 98,672,084 (GRCm39) R211L probably damaging Het
Xpnpep3 T A 15: 81,332,577 (GRCm39) C371* probably null Het
Zfp41 C T 15: 75,490,617 (GRCm39) probably benign Het
Zfp553 T A 7: 126,834,683 (GRCm39) N79K probably benign Het
Zmynd8 G T 2: 165,634,736 (GRCm39) D1096E probably benign 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
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
R6820:Accs UTSW 2 93,673,266 (GRCm39) missense probably null 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'- CAGGATCTTAGAACCTGTAGCTTG -3'
(R):5'- ATGCCCCAAATGTTTCCCAG -3'

Sequencing Primer
(F):5'- AGAACCTGTAGCTTGGAACTTCC -3'
(R):5'- CCCAAATGTTTCCCAGAGATGATAG -3'
Posted On 2016-05-10