Incidental Mutation 'R2401:Acnat1'
ID 248676
Institutional Source Beutler Lab
Gene Symbol Acnat1
Ensembl Gene ENSMUSG00000070985
Gene Name acyl-coenzyme A amino acid N-acyltransferase 1
Synonyms
MMRRC Submission 040367-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R2401 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 49447105-49473912 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 49451077 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 11 (N11K)
Ref Sequence ENSEMBL: ENSMUSP00000121168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095086] [ENSMUST00000107697] [ENSMUST00000135976]
AlphaFold A2AKK5
Predicted Effect probably benign
Transcript: ENSMUST00000095086
AA Change: N11K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000092702
Gene: ENSMUSG00000070985
AA Change: N11K

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: N11K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103325
Gene: ENSMUSG00000070985
AA Change: N11K

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 possibly damaging
Transcript: ENSMUST00000135976
AA Change: N11K

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 119,882,312 (GRCm39) L1158P probably damaging Het
Ammecr1l T A 18: 31,909,056 (GRCm39) I217N possibly damaging Het
Ankrd11 G A 8: 123,635,473 (GRCm39) R54* probably null Het
Ccdc178 C T 18: 22,264,471 (GRCm39) probably null Het
Clcn7 T C 17: 25,372,114 (GRCm39) S425P probably benign Het
Cnmd A G 14: 79,894,045 (GRCm39) V114A probably damaging Het
Col13a1 T C 10: 61,686,941 (GRCm39) T651A unknown Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cyp3a25 T C 5: 145,923,778 (GRCm39) probably null Het
Dmrta1 A T 4: 89,579,853 (GRCm39) D271V probably benign Het
Efcab3 T A 11: 104,963,144 (GRCm39) probably null Het
Exo5 T C 4: 120,779,194 (GRCm39) I224V probably damaging Het
Fam162b C A 10: 51,463,314 (GRCm39) A118S probably damaging Het
Glb1 A G 9: 114,283,325 (GRCm39) T406A possibly damaging Het
Grk3 T C 5: 113,062,849 (GRCm39) N666S probably benign Het
Hars2 T C 18: 36,922,576 (GRCm39) F370L possibly damaging Het
Ighv8-11 T G 12: 115,531,223 (GRCm39) probably benign Het
Iho1 G T 9: 108,290,205 (GRCm39) T133N possibly damaging Het
Inpp4b A T 8: 82,723,968 (GRCm39) D500V probably benign Het
Itgb4 A G 11: 115,897,389 (GRCm39) D1534G possibly damaging Het
Kcnk2 G C 1: 189,072,214 (GRCm39) T38S possibly damaging Het
Kif16b C T 2: 142,598,042 (GRCm39) V527I probably benign Het
Kmt2b A G 7: 30,276,133 (GRCm39) Y1789H probably damaging Het
Lpl A C 8: 69,353,895 (GRCm39) D412A possibly damaging Het
Lrrc27 T G 7: 138,803,529 (GRCm39) L151R probably damaging Het
Muc17 T C 5: 137,190,980 (GRCm39) probably benign Het
Nup205 T A 6: 35,185,069 (GRCm39) Y829* probably null Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Olfm4 A G 14: 80,259,192 (GRCm39) Y447C probably damaging Het
Or4f57 T C 2: 111,790,494 (GRCm39) Y308C probably benign Het
Pcdhb6 T C 18: 37,468,222 (GRCm39) V381A probably benign Het
Prmt2 C T 10: 76,061,249 (GRCm39) W79* probably null Het
Skic2 T C 17: 35,059,361 (GRCm39) M1029V probably benign Het
Stil A G 4: 114,873,483 (GRCm39) R369G probably null Het
Ttc41 T C 10: 86,560,238 (GRCm39) I387T probably benign Het
Tubgcp6 A G 15: 88,987,187 (GRCm39) L1262P probably benign Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Zfp804b T C 5: 6,819,445 (GRCm39) H1206R probably 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
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
R4395:Acnat1 UTSW 4 49,447,679 (GRCm39) missense probably benign 0.00
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'- TGGACCCCTACATAGTCACC -3'
(R):5'- CTTCAAGATCCTGGTTGGGG -3'

Sequencing Primer
(F):5'- CCCCCAAGGCCGGTGTC -3'
(R):5'- CAAGATCCTGGTTGGGGGAAGG -3'
Posted On 2014-11-11