Incidental Mutation 'IGL01321:Acnat2'
ID 74054
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acnat2
Ensembl Gene ENSMUSG00000060317
Gene Name acyl-coenzyme A amino acid N-acyltransferase 2
Synonyms C730036D15Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL01321
Quality Score
Status
Chromosome 4
Chromosomal Location 49379840-49408151 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49380269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 370 (S370P)
Ref Sequence ENSEMBL: ENSMUSP00000080256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081541] [ENSMUST00000107698] [ENSMUST00000125123]
AlphaFold Q8BGG9
Predicted Effect probably damaging
Transcript: ENSMUST00000081541
AA Change: S370P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000080256
Gene: ENSMUSG00000060317
AA Change: S370P

DomainStartEndE-ValueType
Pfam:Bile_Hydr_Trans 15 144 6e-44 PFAM
low complexity region 149 173 N/A INTRINSIC
Pfam:BAAT_C 206 415 2e-79 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107698
AA Change: S352P

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103326
Gene: ENSMUSG00000060317
AA Change: S352P

DomainStartEndE-ValueType
Pfam:Bile_Hydr_Trans 14 145 9.8e-42 PFAM
Pfam:BAAT_C 188 397 6.6e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125123
SMART Domains Protein: ENSMUSP00000119135
Gene: ENSMUSG00000060317

DomainStartEndE-ValueType
Pfam:Bile_Hydr_Trans 14 145 2.4e-42 PFAM
low complexity region 149 173 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139564
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 T C 16: 85,696,363 (GRCm39) R265G probably benign Het
Cd2ap T C 17: 43,156,280 (GRCm39) S86G possibly damaging Het
Cers3 A C 7: 66,435,751 (GRCm39) probably benign Het
Dnaaf2 G T 12: 69,243,376 (GRCm39) P562T probably damaging Het
Dnajc21 A C 15: 10,447,188 (GRCm39) V520G probably benign Het
Dync1h1 A G 12: 110,592,041 (GRCm39) probably benign Het
Extl3 T C 14: 65,304,211 (GRCm39) N733D probably benign Het
Gm5499 T A 17: 87,385,928 (GRCm39) noncoding transcript Het
Gstm6 T C 3: 107,848,379 (GRCm39) Q180R probably benign Het
Hdlbp G A 1: 93,351,524 (GRCm39) R460W probably damaging Het
Ift81 T C 5: 122,749,031 (GRCm39) D40G probably damaging Het
Igsf3 T A 3: 101,334,338 (GRCm39) probably benign Het
Kcnb2 A G 1: 15,383,147 (GRCm39) T158A probably benign Het
Lrrc59 C T 11: 94,529,426 (GRCm39) R167* probably null Het
Macf1 A G 4: 123,334,567 (GRCm39) C4397R probably damaging Het
Morc1 T C 16: 48,402,825 (GRCm39) S583P probably benign Het
Mucl3 A T 17: 35,947,758 (GRCm39) N490K probably damaging Het
Nipsnap2 T A 5: 129,834,205 (GRCm39) *282R probably null Het
Or2ag19 T C 7: 106,443,956 (GRCm39) L46P probably damaging Het
Or9m1b A T 2: 87,836,589 (GRCm39) C178S probably damaging Het
Parp14 T A 16: 35,676,929 (GRCm39) Q1013L probably benign Het
Pdzd8 A C 19: 59,289,961 (GRCm39) S480A probably benign Het
Piezo1 A T 8: 123,214,339 (GRCm39) S1609R probably damaging Het
Pkp4 G A 2: 59,180,971 (GRCm39) probably null Het
Plpp2 A T 10: 79,363,327 (GRCm39) V106D probably damaging Het
Rimbp2 T C 5: 128,863,816 (GRCm39) Y724C probably benign Het
Rpgrip1l A T 8: 91,987,501 (GRCm39) L852* probably null Het
Samd9l T A 6: 3,376,259 (GRCm39) D334V probably benign Het
Sipa1l2 G A 8: 126,218,257 (GRCm39) T360M probably damaging Het
Slc30a2 A T 4: 134,070,611 (GRCm39) D5V probably damaging Het
Spata31 T C 13: 65,069,568 (GRCm39) I572T probably benign Het
Tma16 G A 8: 66,929,512 (GRCm39) L161F probably benign Het
Trappc2b A T 11: 51,576,670 (GRCm39) V76D probably damaging Het
Trim69 A T 2: 122,003,765 (GRCm39) E238V possibly damaging Het
Zfhx4 A G 3: 5,307,388 (GRCm39) T205A probably benign Het
Other mutations in Acnat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00655:Acnat2 APN 4 49,383,250 (GRCm39) missense probably damaging 1.00
IGL01891:Acnat2 APN 4 49,383,395 (GRCm39) missense probably benign 0.00
IGL01993:Acnat2 APN 4 49,380,131 (GRCm39) missense probably benign 0.00
IGL02517:Acnat2 APN 4 49,380,647 (GRCm39) missense possibly damaging 0.79
IGL02517:Acnat2 APN 4 49,380,639 (GRCm39) nonsense probably null
IGL03249:Acnat2 APN 4 49,381,787 (GRCm39) missense probably benign 0.00
PIT4494001:Acnat2 UTSW 4 49,383,133 (GRCm39) missense probably benign 0.16
R0050:Acnat2 UTSW 4 49,380,586 (GRCm39) missense probably benign 0.03
R0462:Acnat2 UTSW 4 49,383,084 (GRCm39) critical splice donor site probably null
R0482:Acnat2 UTSW 4 49,383,534 (GRCm39) missense probably benign 0.09
R0590:Acnat2 UTSW 4 49,383,273 (GRCm39) missense probably benign 0.00
R0616:Acnat2 UTSW 4 49,380,269 (GRCm39) missense probably damaging 0.99
R1099:Acnat2 UTSW 4 49,380,484 (GRCm39) missense probably benign 0.01
R1678:Acnat2 UTSW 4 49,380,568 (GRCm39) missense probably damaging 0.98
R1710:Acnat2 UTSW 4 49,380,587 (GRCm39) missense probably benign 0.16
R2190:Acnat2 UTSW 4 49,383,551 (GRCm39) start codon destroyed probably benign
R4863:Acnat2 UTSW 4 49,380,172 (GRCm39) missense probably damaging 1.00
R5031:Acnat2 UTSW 4 49,380,631 (GRCm39) missense probably damaging 1.00
R5194:Acnat2 UTSW 4 49,380,452 (GRCm39) missense probably benign
R5936:Acnat2 UTSW 4 49,383,362 (GRCm39) missense probably benign 0.00
R6451:Acnat2 UTSW 4 49,380,262 (GRCm39) missense probably benign 0.00
R6526:Acnat2 UTSW 4 49,383,497 (GRCm39) missense probably benign 0.00
R6759:Acnat2 UTSW 4 49,380,254 (GRCm39) missense probably benign 0.01
R7180:Acnat2 UTSW 4 49,381,803 (GRCm39) nonsense probably null
R7356:Acnat2 UTSW 4 49,383,507 (GRCm39) missense probably damaging 1.00
R7879:Acnat2 UTSW 4 49,383,299 (GRCm39) missense probably damaging 1.00
R9626:Acnat2 UTSW 4 49,380,179 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07