Incidental Mutation 'R3195:Acnat1'
ID 267584
Institutional Source Beutler Lab
Gene Symbol Acnat1
Ensembl Gene ENSMUSG00000070985
Gene Name acyl-coenzyme A amino acid N-acyltransferase 1
Synonyms
MMRRC Submission 040616-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R3195 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 49447105-49473912 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 49447457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Alanine at position 357 (P357A)
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: P375A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000092702
Gene: ENSMUSG00000070985
AA Change: P375A

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 damaging
Transcript: ENSMUST00000107697
AA Change: P357A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103325
Gene: ENSMUSG00000070985
AA Change: P357A

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (33/34)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik A T 15: 57,892,132 (GRCm39) N158K probably benign Het
Akap6 T A 12: 53,119,240 (GRCm39) C1102* probably null Het
Calb2 C T 8: 110,883,635 (GRCm39) probably benign Het
Cdh15 G A 8: 123,583,374 (GRCm39) R59H probably benign Het
Csgalnact1 TGG TG 8: 68,913,737 (GRCm39) probably null Het
Dmtf1 A G 5: 9,182,454 (GRCm39) probably benign Het
Focad A G 4: 88,325,588 (GRCm39) E151G possibly damaging Het
Frem1 A G 4: 82,932,351 (GRCm39) F117L probably damaging Het
Gab2 A G 7: 96,921,236 (GRCm39) T204A probably benign Het
Gapdh T C 6: 125,139,583 (GRCm39) N229S possibly damaging Het
Gm3604 A T 13: 62,517,868 (GRCm39) C163* probably null Het
Iqub G C 6: 24,462,036 (GRCm39) probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
L1td1 A G 4: 98,625,755 (GRCm39) E650G possibly damaging Het
Lilra5 G A 7: 4,241,756 (GRCm39) G185D probably damaging Het
Lpin1 A G 12: 16,615,584 (GRCm39) S323P possibly damaging Het
Mmp7 C A 9: 7,692,219 (GRCm39) S31R probably benign Het
Myo1h G A 5: 114,466,801 (GRCm39) C283Y probably benign Het
Nfkbiz A G 16: 55,639,991 (GRCm39) L122P probably damaging Het
Or10c1 A G 17: 37,522,427 (GRCm39) F106L possibly damaging Het
Or1e35 T C 11: 73,797,484 (GRCm39) Y278C possibly damaging Het
Paqr8 A G 1: 21,005,257 (GRCm39) E137G probably damaging Het
Pde4b G A 4: 102,456,840 (GRCm39) A429T probably damaging Het
Pes1 T C 11: 3,925,736 (GRCm39) probably benign Het
Reln A T 5: 22,245,418 (GRCm39) I730N possibly damaging Het
Sh3rf1 C T 8: 61,679,321 (GRCm39) P121L probably benign Het
Skint9 T G 4: 112,248,148 (GRCm39) I199L probably benign Het
Slc13a4 C T 6: 35,245,861 (GRCm39) V595M probably damaging Het
Smarca2 A G 19: 26,661,222 (GRCm39) E939G possibly damaging Het
Spg11 A G 2: 121,913,879 (GRCm39) probably null Het
Trpm1 T A 7: 63,849,061 (GRCm39) Y102* probably null Het
Usp42 A G 5: 143,702,954 (GRCm39) S556P probably benign Het
Zfp957 A G 14: 79,450,332 (GRCm39) V489A 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
R2401:Acnat1 UTSW 4 49,451,077 (GRCm39) missense possibly damaging 0.72
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'- TCCCAGCAATTCCCATCTGATG -3'
(R):5'- TACTTCCCGTGGAAAAGGC -3'

Sequencing Primer
(F):5'- TACAACAATTCCAGCATTTTCGC -3'
(R):5'- AGGCCCAGGGGAAGATCC -3'
Posted On 2015-02-18