Incidental Mutation 'R4395:Acnat1'
ID 325430
Institutional Source Beutler Lab
Gene Symbol Acnat1
Ensembl Gene ENSMUSG00000070985
Gene Name acyl-coenzyme A amino acid N-acyltransferase 1
Synonyms
MMRRC Submission 041684-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R4395 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 49447105-49473912 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49447679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 283 (Y283H)
Ref Sequence ENSEMBL: ENSMUSP00000103325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095086] [ENSMUST00000107697] [ENSMUST00000135976]
AlphaFold A2AKK5
Predicted Effect probably benign
Transcript: ENSMUST00000095086
AA Change: Y301H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000092702
Gene: ENSMUSG00000070985
AA Change: Y301H

DomainStartEndE-ValueType
Pfam:Bile_Hydr_Trans 15 144 2.2e-44 PFAM
low complexity region 149 162 N/A INTRINSIC
Pfam:Abhydrolase_5 170 360 3.6e-8 PFAM
Pfam:FSH1 191 361 4.5e-7 PFAM
Pfam:BAAT_C 206 411 5.5e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107697
AA Change: Y283H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103325
Gene: ENSMUSG00000070985
AA Change: Y283H

DomainStartEndE-ValueType
Pfam:Bile_Hydr_Trans 14 145 5.7e-42 PFAM
Pfam:Abhydrolase_5 156 342 3.3e-8 PFAM
Pfam:BAAT_C 188 393 1.6e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135976
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl5 A G 10: 80,180,736 (GRCm39) C109R probably damaging Het
Adgrg4 T G X: 55,977,703 (GRCm39) L2193V probably damaging Het
Alpk3 C T 7: 80,744,703 (GRCm39) S1266F probably damaging Het
Arfgef3 A G 10: 18,473,457 (GRCm39) L1614P probably damaging Het
Atm T C 9: 53,376,527 (GRCm39) R2038G probably benign Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Capza2 T C 6: 17,656,449 (GRCm39) probably null Het
Cfap43 T C 19: 47,740,352 (GRCm39) T1274A probably benign Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Cisd3 A G 11: 97,579,212 (GRCm39) Y115C probably damaging Het
Crebl2 A G 6: 134,826,208 (GRCm39) E53G probably damaging Het
Ech1 T C 7: 28,525,671 (GRCm39) S107P probably damaging Het
Fam3b C A 16: 97,282,986 (GRCm39) probably null Het
Fat1 T A 8: 45,405,383 (GRCm39) N711K probably damaging Het
Grm8 T A 6: 27,429,431 (GRCm39) I488F probably damaging Het
Hmga2 C T 10: 120,311,956 (GRCm39) G5S probably damaging Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Ifit3b G T 19: 34,589,951 (GRCm39) E376* probably null Het
Ints5 A G 19: 8,873,808 (GRCm39) E589G probably damaging Het
Iqsec2 C T X: 150,992,049 (GRCm39) T562I probably damaging Het
Lamc3 A G 2: 31,821,964 (GRCm39) E1304G probably benign Het
Ltv1 T C 10: 13,066,323 (GRCm39) Y101C probably benign Het
Maf1 T C 15: 76,236,357 (GRCm39) probably benign Het
Map3k13 A T 16: 21,717,321 (GRCm39) K185N possibly damaging Het
Mtcl3 T C 10: 29,023,351 (GRCm39) S233P probably benign Het
Mtus2 A T 5: 148,013,432 (GRCm39) Q75L probably benign Het
Nod2 T A 8: 89,391,019 (GRCm39) F427Y probably damaging Het
Or1s2 A T 19: 13,758,275 (GRCm39) I100F probably benign Het
Or5p51 A G 7: 107,444,469 (GRCm39) L157P probably damaging Het
Pik3cg T C 12: 32,254,091 (GRCm39) D632G probably damaging Het
Plekhs1 A G 19: 56,468,326 (GRCm39) D298G probably benign Het
Rbm34 T C 8: 127,676,131 (GRCm39) T375A probably benign Het
Slc4a7 C T 14: 14,765,665 (GRCm38) T549I probably damaging Het
Slco1a7 T C 6: 141,657,844 (GRCm39) I565V probably benign Het
Stk17b A G 1: 53,803,274 (GRCm39) I47T probably damaging Het
Tenm2 C T 11: 35,915,451 (GRCm39) V2028I probably benign Het
Tle4 A T 19: 14,495,302 (GRCm39) H142Q probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tnxb C T 17: 34,897,636 (GRCm39) Q804* probably null Het
Trpm2 T C 10: 77,765,053 (GRCm39) I983V probably benign Het
Ttll8 C T 15: 88,799,783 (GRCm39) A553T possibly damaging Het
Ubxn11 G T 4: 133,843,431 (GRCm39) E171D possibly damaging Het
Other mutations in Acnat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02733:Acnat1 APN 4 49,447,793 (GRCm39) missense probably benign
IGL03241:Acnat1 APN 4 49,447,702 (GRCm39) missense probably benign 0.01
R0478:Acnat1 UTSW 4 49,450,901 (GRCm39) missense probably damaging 1.00
R0568:Acnat1 UTSW 4 49,451,003 (GRCm39) missense possibly damaging 0.93
R1299:Acnat1 UTSW 4 49,450,925 (GRCm39) missense possibly damaging 0.94
R1538:Acnat1 UTSW 4 49,447,835 (GRCm39) missense possibly damaging 0.69
R1750:Acnat1 UTSW 4 49,451,042 (GRCm39) missense probably benign 0.08
R1847:Acnat1 UTSW 4 49,447,716 (GRCm39) missense possibly damaging 0.71
R1913:Acnat1 UTSW 4 49,447,498 (GRCm39) missense probably damaging 1.00
R2401:Acnat1 UTSW 4 49,451,077 (GRCm39) missense possibly damaging 0.72
R3195:Acnat1 UTSW 4 49,447,457 (GRCm39) missense probably damaging 1.00
R3196:Acnat1 UTSW 4 49,447,457 (GRCm39) missense probably damaging 1.00
R3948:Acnat1 UTSW 4 49,447,477 (GRCm39) missense possibly damaging 0.52
R4598:Acnat1 UTSW 4 49,450,781 (GRCm39) missense probably benign 0.22
R4774:Acnat1 UTSW 4 49,450,784 (GRCm39) missense probably benign 0.08
R6575:Acnat1 UTSW 4 49,450,785 (GRCm39) missense possibly damaging 0.53
R7545:Acnat1 UTSW 4 49,449,142 (GRCm39) nonsense probably null
R7891:Acnat1 UTSW 4 49,449,181 (GRCm39) missense possibly damaging 0.89
R7970:Acnat1 UTSW 4 49,449,266 (GRCm39) missense probably damaging 1.00
R8219:Acnat1 UTSW 4 49,447,748 (GRCm39) missense probably benign 0.02
R8232:Acnat1 UTSW 4 49,450,817 (GRCm39) missense probably damaging 0.99
R8312:Acnat1 UTSW 4 49,449,142 (GRCm39) nonsense probably null
R9408:Acnat1 UTSW 4 49,447,773 (GRCm39) missense probably benign 0.35
R9746:Acnat1 UTSW 4 49,450,652 (GRCm39) missense probably damaging 1.00
Z1088:Acnat1 UTSW 4 49,447,588 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTCCAAAACACATGGGTCG -3'
(R):5'- TATGGCCTGTTACCTGAAGC -3'

Sequencing Primer
(F):5'- ACAGGTTGCCAGGATGC -3'
(R):5'- CTGAAGCAGGTGATTGCCAC -3'
Posted On 2015-07-06