Incidental Mutation 'R4472:Accsl'
ID 330388
Institutional Source Beutler Lab
Gene Symbol Accsl
Ensembl Gene ENSMUSG00000075023
Gene Name 1-aminocyclopropane-1-carboxylate synthase (inactive)-like
Synonyms
MMRRC Submission 041729-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R4472 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 93685706-93699502 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 93694337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000097281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099690] [ENSMUST00000133562] [ENSMUST00000143033]
AlphaFold Q3UX83
Predicted Effect probably null
Transcript: ENSMUST00000099690
SMART Domains Protein: ENSMUSP00000097281
Gene: ENSMUSG00000075023

DomainStartEndE-ValueType
low complexity region 37 48 N/A INTRINSIC
Pfam:Aminotran_1_2 190 568 6.9e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128995
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129248
Predicted Effect probably benign
Transcript: ENSMUST00000133562
SMART Domains Protein: ENSMUSP00000120924
Gene: ENSMUSG00000075023

DomainStartEndE-ValueType
low complexity region 41 52 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141561
Predicted Effect probably benign
Transcript: ENSMUST00000143033
SMART Domains Protein: ENSMUSP00000118053
Gene: ENSMUSG00000075023

DomainStartEndE-ValueType
low complexity region 41 52 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 97% (66/68)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J11Rik A T 9: 39,961,994 (GRCm39) noncoding transcript Het
Adcy1 G A 11: 7,080,369 (GRCm39) V371M probably damaging Het
Adgrb2 C T 4: 129,902,146 (GRCm39) A509V probably benign Het
Adgrg6 T A 10: 14,312,525 (GRCm39) Q754L probably damaging Het
Agap2 T C 10: 126,927,082 (GRCm39) I1008T probably damaging Het
Aph1c T G 9: 66,735,051 (GRCm39) H150P probably damaging Het
Atcay T C 10: 81,048,361 (GRCm39) R242G possibly damaging Het
Atg2a G A 19: 6,308,985 (GRCm39) V1724M probably damaging Het
Bbs12 T C 3: 37,373,369 (GRCm39) V54A possibly damaging Het
Card14 A G 11: 119,224,784 (GRCm39) M604V possibly damaging Het
Cd28 A T 1: 60,802,393 (GRCm39) H104L probably benign Het
Cntn5 A T 9: 10,048,776 (GRCm39) D262E probably damaging Het
Col6a3 A G 1: 90,749,736 (GRCm39) V366A probably benign Het
Csnk1d G A 11: 120,855,800 (GRCm39) probably benign Het
Dcaf11 T A 14: 55,803,063 (GRCm39) probably benign Het
Dpy19l4 G A 4: 11,304,053 (GRCm39) T119M possibly damaging Het
Eif3f T C 7: 108,540,153 (GRCm39) V316A possibly damaging Het
Fbrsl1 G A 5: 110,526,932 (GRCm39) probably benign Het
Fbxo10 C T 4: 45,043,693 (GRCm39) R710H probably damaging Het
Fbxw9 G A 8: 85,786,829 (GRCm39) D25N probably damaging Het
Gm14295 C T 2: 176,501,386 (GRCm39) T292I possibly damaging Het
Gm4884 C G 7: 40,692,687 (GRCm39) Q219E probably benign Het
Gpr150 A G 13: 76,204,273 (GRCm39) V224A probably benign Het
Hps1 A T 19: 42,750,935 (GRCm39) I355N probably damaging Het
Lmbr1l A G 15: 98,804,178 (GRCm39) S374P probably benign Het
Macf1 A T 4: 123,289,782 (GRCm39) N5458K probably damaging Het
Man1b1 C G 2: 25,222,867 (GRCm39) probably benign Het
Morc3 A G 16: 93,671,645 (GRCm39) probably null Het
Mrgpra4 T C 7: 47,631,539 (GRCm39) T21A probably benign Het
Myo1a G T 10: 127,546,327 (GRCm39) V277L probably benign Het
Nkain4 C G 2: 180,596,415 (GRCm39) M1I probably null Het
Nktr T C 9: 121,577,962 (GRCm39) probably benign Het
Nrxn3 T C 12: 90,171,515 (GRCm39) S276P probably damaging Het
Oas2 A T 5: 120,879,220 (GRCm39) D373E possibly damaging Het
Or8g37 T A 9: 39,731,870 (GRCm39) *312R probably null Het
Oser1 T A 2: 163,257,500 (GRCm39) E11V probably null Het
Oser1 C T 2: 163,257,501 (GRCm39) E11K probably damaging Het
Pacsin3 A G 2: 91,093,288 (GRCm39) probably null Het
Pcdh20 T C 14: 88,706,434 (GRCm39) S289G probably benign Het
Phlpp1 A G 1: 106,314,176 (GRCm39) D1183G probably damaging Het
Pign T C 1: 105,575,945 (GRCm39) K232E probably benign Het
Polk A G 13: 96,630,413 (GRCm39) S383P probably damaging Het
Prom2 C A 2: 127,382,111 (GRCm39) R101L probably benign Het
Rest T C 5: 77,429,027 (GRCm39) V482A probably benign Het
Rexo1 A T 10: 80,378,492 (GRCm39) S476T probably damaging Het
Rnf31 T A 14: 55,840,777 (GRCm39) Y1015N probably damaging Het
Spata3 T C 1: 85,954,152 (GRCm39) Y305H probably benign Het
Sv2a G A 3: 96,099,810 (GRCm39) V587M probably benign Het
Synj1 A G 16: 90,766,069 (GRCm39) probably null Het
Syt17 A G 7: 118,036,040 (GRCm39) probably null Het
Taf2 T C 15: 54,922,276 (GRCm39) D337G possibly damaging Het
Tcaf1 A C 6: 42,656,248 (GRCm39) S243A probably benign Het
Tmem9 A G 1: 135,955,234 (GRCm39) T123A probably benign Het
Trav4-4-dv10 T C 14: 53,921,187 (GRCm39) probably benign Het
Trbv15 G A 6: 41,118,493 (GRCm39) R83Q probably damaging Het
Trim27 A G 13: 21,374,056 (GRCm39) I268V probably benign Het
Tubgcp6 T A 15: 88,987,857 (GRCm39) S1031C probably damaging Het
Vmn1r89 C A 7: 12,953,799 (GRCm39) H110Q probably benign Het
Vmn2r30 T C 7: 7,320,091 (GRCm39) N545S probably damaging Het
Wls G A 3: 159,603,020 (GRCm39) M144I probably benign Het
Yme1l1 T C 2: 23,076,344 (GRCm39) probably null Het
Zeb2 A T 2: 44,913,023 (GRCm39) L56Q probably damaging Het
Other mutations in Accsl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02336:Accsl APN 2 93,696,253 (GRCm39) missense possibly damaging 0.46
IGL02511:Accsl APN 2 93,692,111 (GRCm39) unclassified probably benign
IGL03248:Accsl APN 2 93,693,129 (GRCm39) unclassified probably benign
IGL03338:Accsl APN 2 93,686,092 (GRCm39) missense probably benign 0.34
R0323:Accsl UTSW 2 93,691,425 (GRCm39) missense probably benign 0.27
R0449:Accsl UTSW 2 93,696,419 (GRCm39) missense probably benign 0.00
R1172:Accsl UTSW 2 93,696,589 (GRCm39) splice site probably benign
R1173:Accsl UTSW 2 93,696,589 (GRCm39) splice site probably benign
R1175:Accsl UTSW 2 93,696,589 (GRCm39) splice site probably benign
R1752:Accsl UTSW 2 93,688,375 (GRCm39) missense probably damaging 1.00
R1952:Accsl UTSW 2 93,689,778 (GRCm39) missense probably damaging 1.00
R2877:Accsl UTSW 2 93,689,755 (GRCm39) missense probably damaging 0.99
R2878:Accsl UTSW 2 93,689,755 (GRCm39) missense probably damaging 0.99
R4472:Accsl UTSW 2 93,694,336 (GRCm39) critical splice acceptor site probably null
R5400:Accsl UTSW 2 93,689,767 (GRCm39) missense probably damaging 0.99
R5502:Accsl UTSW 2 93,687,289 (GRCm39) critical splice donor site probably null
R5610:Accsl UTSW 2 93,692,118 (GRCm39) critical splice donor site probably null
R5636:Accsl UTSW 2 93,699,370 (GRCm39) missense probably benign 0.41
R5799:Accsl UTSW 2 93,694,748 (GRCm39) splice site probably null
R6376:Accsl UTSW 2 93,687,343 (GRCm39) missense probably damaging 1.00
R6913:Accsl UTSW 2 93,696,488 (GRCm39) missense possibly damaging 0.66
R7311:Accsl UTSW 2 93,696,160 (GRCm39) missense possibly damaging 0.51
R7564:Accsl UTSW 2 93,688,501 (GRCm39) missense possibly damaging 0.83
R7731:Accsl UTSW 2 93,691,363 (GRCm39) missense probably benign 0.01
R7835:Accsl UTSW 2 93,696,329 (GRCm39) nonsense probably null
R8184:Accsl UTSW 2 93,686,086 (GRCm39) missense probably benign 0.19
R8305:Accsl UTSW 2 93,696,423 (GRCm39) missense probably benign 0.00
R8824:Accsl UTSW 2 93,693,195 (GRCm39) missense probably damaging 1.00
R8868:Accsl UTSW 2 93,696,490 (GRCm39) missense probably benign 0.00
R8954:Accsl UTSW 2 93,688,299 (GRCm39) missense probably benign 0.06
R9172:Accsl UTSW 2 93,691,833 (GRCm39) missense probably damaging 1.00
R9473:Accsl UTSW 2 93,686,092 (GRCm39) missense probably benign 0.03
R9513:Accsl UTSW 2 93,699,498 (GRCm39) unclassified probably benign
Z1088:Accsl UTSW 2 93,696,293 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCATTTCCTGGAAGTTATTAGCC -3'
(R):5'- TTTGTGTCTGACAAGGCTAGCC -3'

Sequencing Primer
(F):5'- GGTAGATGCTTTCCTAAAAGGCATGC -3'
(R):5'- GCTAGCCTCCATTCATGAAGGAG -3'
Posted On 2015-07-21