Incidental Mutation 'R2190:Acnat2'
List |< first << previous [record 51 of 1308] next >> last >|
ID238011
Institutional Source Beutler Lab
Gene Symbol Acnat2
Ensembl Gene ENSMUSG00000060317
Gene Nameacyl-coenzyme A amino acid N-acyltransferase 2
SynonymsC730036D15Rik
MMRRC Submission 040192-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.218) question?
Stock #R2190 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location49379840-49408151 bp(-) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) T to A at 49383551 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
Ref Sequence ENSEMBL: ENSMUSP00000119135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081541] [ENSMUST00000107698] [ENSMUST00000125123]
Predicted Effect probably benign
Transcript: ENSMUST00000081541
AA Change: M1L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000080256
Gene: ENSMUSG00000060317
AA Change: M1L

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 probably benign
Transcript: ENSMUST00000107698
AA Change: M1L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103326
Gene: ENSMUSG00000060317
AA Change: M1L

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
AA Change: M1L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119135
Gene: ENSMUSG00000060317
AA Change: M1L

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars A T 8: 111,040,153 T56S probably damaging Het
Acbd6 A T 1: 155,624,906 H204L probably damaging Het
Adgrg5 A T 8: 94,933,951 I73F probably damaging Het
Ankrd52 A G 10: 128,383,618 T474A probably benign Het
Arid3a A G 10: 79,946,531 D252G possibly damaging Het
Aspg G T 12: 112,124,888 E501D probably damaging Het
Bicral A G 17: 46,825,123 I387T probably damaging Het
Bub1 T C 2: 127,810,725 N574S probably benign Het
Casr G A 16: 36,495,416 T764M probably damaging Het
Ccdc129 A G 6: 55,897,700 T212A possibly damaging Het
Ccdc60 A G 5: 116,157,580 S259P probably damaging Het
Ccne2 A T 4: 11,197,241 N181I probably benign Het
Chd4 A G 6: 125,114,297 D89G probably benign Het
Col25a1 C T 3: 130,584,715 P606S probably damaging Het
Dcc A G 18: 71,547,420 S582P possibly damaging Het
Dlg4 A G 11: 70,042,604 D619G probably damaging Het
Elavl2 C T 4: 91,264,094 V129I probably benign Het
Epha3 A G 16: 63,546,189 I965T probably benign Het
Fbxw16 G A 9: 109,436,671 S360L probably damaging Het
Fgf14 T C 14: 123,983,918 Y158C probably damaging Het
Gm44511 A G 6: 128,826,200 I16T possibly damaging Het
Has2 C A 15: 56,667,787 V511F probably benign Het
Heatr5b G A 17: 78,801,756 R1025C probably damaging Het
Hsd17b12 T C 2: 94,034,063 Y233C probably benign Het
Il1f5 A T 2: 24,280,819 I43F probably damaging Het
Inpp5b T A 4: 124,785,195 I465N probably damaging Het
Irak2 T A 6: 113,686,943 N423K probably damaging Het
Itga2 C A 13: 114,870,605 V396L probably benign Het
Lipo2 A T 19: 33,748,569 N94K probably damaging Het
Lrrc37a T C 11: 103,500,043 T1519A possibly damaging Het
Macf1 A G 4: 123,459,212 V1558A probably benign Het
Mocos C A 18: 24,664,057 H91Q probably benign Het
Myh14 G A 7: 44,661,063 T132I probably damaging Het
Nlrp2 A T 7: 5,319,238 D803E possibly damaging Het
Ntsr2 T A 12: 16,654,017 I173N probably damaging Het
Olfr1458 T G 19: 13,102,493 K270N probably damaging Het
Olfr299 A G 7: 86,466,365 Y318C possibly damaging Het
Pitx3 T C 19: 46,137,047 Y86C probably damaging Het
Pkp1 T C 1: 135,879,971 S520G probably benign Het
Pygo1 C T 9: 72,945,247 Q239* probably null Het
Rab13 A G 3: 90,223,544 E68G probably damaging Het
Rfx7 A G 9: 72,617,919 E797G probably benign Het
Slc5a1 T C 5: 33,104,593 probably null Het
Slco1c1 A G 6: 141,563,167 T518A probably benign Het
Spint1 A G 2: 119,238,180 I132V probably benign Het
Stard9 T A 2: 120,714,120 I4514N probably benign Het
Tenm3 T G 8: 48,395,544 S87R probably damaging Het
Thap4 G T 1: 93,750,659 P135Q probably damaging Het
Tmed9 A G 13: 55,593,343 E57G probably benign Het
Tnrc18 C T 5: 142,775,889 V594I unknown Het
Trmt1 A T 8: 84,689,841 K64* probably null Het
Usf2 A G 7: 30,955,181 V198A probably damaging Het
Usp14 A T 18: 10,007,835 C168S probably damaging Het
Vav3 C A 3: 109,562,814 T525K probably damaging Het
Vmn1r52 A G 6: 90,179,169 I152V probably benign Het
Vmn2r81 A G 10: 79,268,251 D236G possibly damaging Het
Wdr19 G A 5: 65,244,166 V975I possibly damaging Het
Other mutations in Acnat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00655:Acnat2 APN 4 49383250 missense probably damaging 1.00
IGL01321:Acnat2 APN 4 49380269 missense probably damaging 0.99
IGL01891:Acnat2 APN 4 49383395 missense probably benign 0.00
IGL01993:Acnat2 APN 4 49380131 missense probably benign 0.00
IGL02517:Acnat2 APN 4 49380639 nonsense probably null
IGL02517:Acnat2 APN 4 49380647 missense possibly damaging 0.79
IGL03249:Acnat2 APN 4 49381787 missense probably benign 0.00
R0050:Acnat2 UTSW 4 49380586 missense probably benign 0.03
R0462:Acnat2 UTSW 4 49383084 critical splice donor site probably null
R0482:Acnat2 UTSW 4 49383534 missense probably benign 0.09
R0590:Acnat2 UTSW 4 49383273 missense probably benign 0.00
R0616:Acnat2 UTSW 4 49380269 missense probably damaging 0.99
R1099:Acnat2 UTSW 4 49380484 missense probably benign 0.01
R1678:Acnat2 UTSW 4 49380568 missense probably damaging 0.98
R1710:Acnat2 UTSW 4 49380587 missense probably benign 0.16
R4863:Acnat2 UTSW 4 49380172 missense probably damaging 1.00
R5031:Acnat2 UTSW 4 49380631 missense probably damaging 1.00
R5194:Acnat2 UTSW 4 49380452 missense probably benign
R5936:Acnat2 UTSW 4 49383362 missense probably benign 0.00
R6451:Acnat2 UTSW 4 49380262 missense probably benign 0.00
R6526:Acnat2 UTSW 4 49383497 missense probably benign 0.00
R6684:Acnat2 UTSW 4 49383248 missense probably benign 0.00
R6759:Acnat2 UTSW 4 49380254 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACCAGCCTCGTTAGTCTTGTAG -3'
(R):5'- TGAGTCAGTGCCACAGAAG -3'

Sequencing Primer
(F):5'- AGCCTCGTTAGTCTTGTAGAAGGC -3'
(R):5'- ATCTTCAAGACCCTGGTTGG -3'
Posted On2014-10-02