Incidental Mutation 'R4727:Acoxl'
ID 358517
Institutional Source Beutler Lab
Gene Symbol Acoxl
Ensembl Gene ENSMUSG00000027380
Gene Name acyl-Coenzyme A oxidase-like
Synonyms 1200014P05Rik
MMRRC Submission 041602-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4727 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 127680796-127965793 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 127820658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 70 (L70R)
Ref Sequence ENSEMBL: ENSMUSP00000105973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028859] [ENSMUST00000110344]
AlphaFold Q9DBS4
Predicted Effect probably damaging
Transcript: ENSMUST00000028859
AA Change: L350R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028859
Gene: ENSMUSG00000027380
AA Change: L350R

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_M 115 223 7.2e-19 PFAM
Pfam:Acyl-CoA_dh_1 254 416 1.8e-14 PFAM
Pfam:ACOX 458 599 6.8e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110344
AA Change: L70R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105973
Gene: ENSMUSG00000027380
AA Change: L70R

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_1 1 136 1.2e-9 PFAM
Pfam:ACOX 175 319 1.5e-18 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 T C 15: 91,062,489 (GRCm39) N483S probably benign Het
Ankrd44 A T 1: 54,706,576 (GRCm39) F627I probably benign Het
Ash2l A T 8: 26,308,623 (GRCm39) I552N probably damaging Het
B4galt1 A G 4: 40,807,812 (GRCm39) S330P probably damaging Het
Bnip3 T C 7: 138,500,435 (GRCm39) S52G probably damaging Het
Btd A G 14: 31,384,278 (GRCm39) Q88R probably benign Het
C4bp A G 1: 130,566,922 (GRCm39) V318A probably benign Het
Cacna1e G A 1: 154,312,214 (GRCm39) Q1530* probably null Het
Calm1 T C 12: 100,166,485 (GRCm39) F23S probably benign Het
Cep290 T G 10: 100,399,132 (GRCm39) I2218R probably benign Het
Ces2c T C 8: 105,574,672 (GRCm39) I43T probably benign Het
Cyp2d9 T C 15: 82,338,602 (GRCm39) L1P probably null Het
Dgki C A 6: 37,276,748 (GRCm39) probably benign Het
Dhh A G 15: 98,796,023 (GRCm39) L44P probably damaging Het
Dnah12 A G 14: 26,594,274 (GRCm39) I3409V probably damaging Het
Dnah7b G A 1: 46,246,816 (GRCm39) R1664H probably damaging Het
Dnah8 T C 17: 31,070,721 (GRCm39) M4469T probably damaging Het
Ehhadh T C 16: 21,581,181 (GRCm39) I604V probably benign Het
Esr1 A G 10: 4,951,418 (GRCm39) I599V probably benign Het
Faf1 G A 4: 109,697,564 (GRCm39) D297N probably damaging Het
Gfra1 A T 19: 58,252,386 (GRCm39) N380K probably damaging Het
Ghitm A G 14: 36,855,700 (GRCm39) C8R probably damaging Het
Ifna4 C A 4: 88,760,519 (GRCm39) T141K probably benign Het
Itsn2 A G 12: 4,757,660 (GRCm39) Y1424C probably damaging Het
Kcnj10 A G 1: 172,197,266 (GRCm39) D260G probably damaging Het
Klf16 T C 10: 80,405,020 (GRCm39) D164G probably damaging Het
Klhdc7b T A 15: 89,271,785 (GRCm39) L889Q probably damaging Het
Lcmt2 C G 2: 120,969,911 (GRCm39) V171L probably benign Het
Lrp11 A G 10: 7,466,348 (GRCm39) E153G probably benign Het
Lrrc43 A T 5: 123,632,366 (GRCm39) T170S probably damaging Het
Lsr T C 7: 30,665,465 (GRCm39) Y163C probably damaging Het
Man1a A T 10: 53,783,668 (GRCm39) probably null Het
Mmp24 C T 2: 155,657,819 (GRCm39) P570S possibly damaging Het
Ms4a3 A G 19: 11,608,742 (GRCm39) M170T probably damaging Het
Naip5 C A 13: 100,358,378 (GRCm39) A953S possibly damaging Het
Nfrkb T C 9: 31,314,919 (GRCm39) S580P probably damaging Het
Or51q1c T G 7: 103,653,097 (GRCm39) V205G probably benign Het
Or8b38 T C 9: 37,973,389 (GRCm39) Y258H probably damaging Het
Padi6 T G 4: 140,458,506 (GRCm39) D462A probably damaging Het
Pde6a A G 18: 61,364,561 (GRCm39) R206G probably benign Het
Plk4 A G 3: 40,759,589 (GRCm39) N162D probably benign Het
Ptpn13 T A 5: 103,717,721 (GRCm39) D1922E probably benign Het
Rangap1 G A 15: 81,613,956 (GRCm39) probably benign Het
Rapgef3 A G 15: 97,658,481 (GRCm39) L175P probably damaging Het
Rps6kb1 G C 11: 86,435,484 (GRCm39) probably null Het
Satb1 T C 17: 52,111,375 (GRCm39) Y161C probably damaging Het
Sel1l3 C A 5: 53,301,525 (GRCm39) probably null Het
Slc17a7 C T 7: 44,822,358 (GRCm39) S398L possibly damaging Het
Slc22a4 T A 11: 53,918,477 (GRCm39) E109V possibly damaging Het
Slc26a7 C T 4: 14,590,477 (GRCm39) A105T probably damaging Het
Slc47a1 T C 11: 61,254,277 (GRCm39) N145S possibly damaging Het
Tank A G 2: 61,483,876 (GRCm39) T441A probably benign Het
Tefm T C 11: 80,031,279 (GRCm39) probably benign Het
Ttbk2 T C 2: 120,575,851 (GRCm39) Y1042C probably benign Het
Wdfy3 T C 5: 102,077,894 (GRCm39) Q892R probably damaging Het
Wdr33 T A 18: 32,021,500 (GRCm39) H683Q unknown Het
Zfp36l2 T A 17: 84,495,089 (GRCm39) I12F probably benign Het
Zfyve26 A T 12: 79,291,170 (GRCm39) M2145K probably benign Het
Other mutations in Acoxl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Acoxl APN 2 127,820,724 (GRCm39) missense probably damaging 1.00
IGL01397:Acoxl APN 2 127,876,811 (GRCm39) missense possibly damaging 0.67
IGL02502:Acoxl APN 2 127,917,804 (GRCm39) missense probably damaging 1.00
gulch UTSW 2 127,964,944 (GRCm39) missense probably benign 0.02
Gully UTSW 2 127,886,311 (GRCm39) missense possibly damaging 0.62
P4748:Acoxl UTSW 2 127,928,264 (GRCm39) splice site probably benign
R0450:Acoxl UTSW 2 127,722,423 (GRCm39) splice site probably null
R0469:Acoxl UTSW 2 127,722,423 (GRCm39) splice site probably null
R0510:Acoxl UTSW 2 127,722,423 (GRCm39) splice site probably null
R1257:Acoxl UTSW 2 127,886,286 (GRCm39) missense probably benign 0.01
R1703:Acoxl UTSW 2 127,820,692 (GRCm39) missense probably damaging 0.99
R1726:Acoxl UTSW 2 127,722,366 (GRCm39) missense probably damaging 1.00
R1867:Acoxl UTSW 2 127,719,707 (GRCm39) missense probably damaging 1.00
R2103:Acoxl UTSW 2 127,814,526 (GRCm39) missense probably damaging 0.97
R2168:Acoxl UTSW 2 127,720,701 (GRCm39) missense probably damaging 1.00
R2761:Acoxl UTSW 2 127,719,733 (GRCm39) missense probably benign 0.01
R3895:Acoxl UTSW 2 127,814,445 (GRCm39) splice site probably benign
R4370:Acoxl UTSW 2 127,720,708 (GRCm39) missense possibly damaging 0.95
R4571:Acoxl UTSW 2 127,719,727 (GRCm39) missense probably damaging 1.00
R4851:Acoxl UTSW 2 127,886,311 (GRCm39) missense possibly damaging 0.62
R4962:Acoxl UTSW 2 127,917,810 (GRCm39) missense probably damaging 0.98
R5248:Acoxl UTSW 2 127,917,855 (GRCm39) critical splice donor site probably null
R5392:Acoxl UTSW 2 127,852,088 (GRCm39) critical splice donor site probably null
R5411:Acoxl UTSW 2 127,696,821 (GRCm39) missense probably benign 0.00
R5418:Acoxl UTSW 2 127,719,722 (GRCm39) missense probably benign 0.34
R5507:Acoxl UTSW 2 127,726,394 (GRCm39) missense probably damaging 0.99
R5681:Acoxl UTSW 2 127,814,559 (GRCm39) missense possibly damaging 0.93
R5738:Acoxl UTSW 2 127,719,686 (GRCm39) missense probably benign 0.21
R6325:Acoxl UTSW 2 127,964,944 (GRCm39) missense probably benign 0.02
R6800:Acoxl UTSW 2 127,852,085 (GRCm39) missense probably damaging 1.00
R7027:Acoxl UTSW 2 127,852,003 (GRCm39) missense probably benign
R7098:Acoxl UTSW 2 127,696,835 (GRCm39) nonsense probably null
R7165:Acoxl UTSW 2 127,965,028 (GRCm39) missense probably benign
R7395:Acoxl UTSW 2 127,726,336 (GRCm39) missense probably damaging 1.00
R7697:Acoxl UTSW 2 127,820,702 (GRCm39) missense probably benign 0.01
R9135:Acoxl UTSW 2 127,696,691 (GRCm39) start gained probably benign
R9165:Acoxl UTSW 2 127,726,432 (GRCm39) missense probably benign
R9291:Acoxl UTSW 2 127,814,493 (GRCm39) missense probably damaging 1.00
R9497:Acoxl UTSW 2 127,719,706 (GRCm39) missense probably damaging 1.00
R9527:Acoxl UTSW 2 127,886,284 (GRCm39) missense probably benign 0.01
Z1088:Acoxl UTSW 2 127,714,115 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCGGCAGACAGTTTTGTAG -3'
(R):5'- CAGAGGCAGTGACAGTGTAC -3'

Sequencing Primer
(F):5'- TGTAGGGCATCCTGAGTACTAAC -3'
(R):5'- GGCAGTGACAGTGTACTTAAGATTC -3'
Posted On 2015-11-11