Incidental Mutation 'IGL01769:Nat8f5'
ID153797
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nat8f5
Ensembl Gene ENSMUSG00000079494
Gene NameN-acetyltransferase 8 (GCN5-related) family member 5
Synonyms1810018F03Rik, Cml5
Accession Numbers

Genbank: NM_023493; MGI: 1916299

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01769
Quality Score
Status
Chromosome6
Chromosomal Location85817218-85820972 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 85817877 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 34 (R34C)
Ref Sequence ENSEMBL: ENSMUSP00000032074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032074] [ENSMUST00000174143]
Predicted Effect probably benign
Transcript: ENSMUST00000032074
AA Change: R34C

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000032074
Gene: ENSMUSG00000079494
AA Change: R34C

DomainStartEndE-ValueType
transmembrane domain 31 53 N/A INTRINSIC
Pfam:Acetyltransf_10 73 192 2.7e-12 PFAM
Pfam:Acetyltransf_9 79 195 9.1e-10 PFAM
Pfam:Acetyltransf_8 84 201 9.2e-10 PFAM
Pfam:Acetyltransf_4 84 205 9.2e-9 PFAM
Pfam:Acetyltransf_7 104 194 3.1e-11 PFAM
Pfam:Acetyltransf_1 111 193 1.6e-15 PFAM
Pfam:Acetyltransf_CG 121 184 1.6e-11 PFAM
Pfam:FR47 131 201 4.3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174143
SMART Domains Protein: ENSMUSP00000133846
Gene: ENSMUSG00000079495

DomainStartEndE-ValueType
transmembrane domain 37 56 N/A INTRINSIC
Pfam:Acetyltransf_10 71 193 5.5e-11 PFAM
Pfam:Acetyltransf_4 75 202 1.1e-9 PFAM
Pfam:Acetyltransf_7 105 195 1.2e-10 PFAM
Pfam:Acetyltransf_1 112 194 2.6e-14 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit complex congenital heart disease associated with heterotaxy, abdominal organ situs anomalies, omphalocele and gastroschisis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik T A 7: 131,357,486 M162L probably benign Het
Aldh1a1 A T 19: 20,642,919 T487S probably benign Het
Bahcc1 T C 11: 120,280,204 probably benign Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Cldn10 G A 14: 118,873,717 probably benign Het
Cntn3 G A 6: 102,208,184 T657I probably damaging Het
Crb1 A T 1: 139,337,068 I204K probably damaging Het
Crim1 C A 17: 78,313,235 T368K probably benign Het
Csad C A 15: 102,180,081 V237L probably benign Het
Cyp39a1 T G 17: 43,749,915 H451Q possibly damaging Het
Dclk2 T C 3: 86,816,360 E376G possibly damaging Het
Dnah10 A T 5: 124,764,944 Y1331F possibly damaging Het
Dnajc11 A T 4: 151,979,302 I452L probably damaging Het
Dpf2 T C 19: 5,912,782 probably benign Het
Elovl2 A C 13: 41,186,944 V225G probably damaging Het
Fancd2 T A 6: 113,545,111 H222Q possibly damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Flt4 C T 11: 49,635,171 probably benign Het
Foxp2 T C 6: 15,409,835 V478A possibly damaging Het
H2-Q1 G A 17: 35,323,529 V317M probably benign Het
Igkv3-5 G A 6: 70,663,352 probably benign Het
Isg20 G A 7: 78,914,381 C12Y probably damaging Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Olfr924 T C 9: 38,848,333 V73A probably benign Het
Pramel7 A G 2: 87,489,588 S454P probably benign Het
Rarb T A 14: 16,443,760 E176V probably damaging Het
Sema4a T A 3: 88,449,756 I303F possibly damaging Het
Slc25a24 G A 3: 109,149,500 E110K probably damaging Het
Slc7a13 A T 4: 19,839,527 I377L probably benign Het
Smim19 T C 8: 22,463,377 probably null Het
Tiam2 A G 17: 3,427,290 Y596C probably damaging Het
Tlr1 A T 5: 64,925,947 L429* probably null Het
Ubxn8 G A 8: 33,629,378 probably benign Het
Vmn2r108 C A 17: 20,471,018 M414I probably benign Het
Vmn2r99 A G 17: 19,380,115 N467S probably damaging Het
Zfp456 T A 13: 67,367,153 T145S probably benign Het
Other mutations in Nat8f5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00824:Nat8f5 APN 6 85817297 missense probably damaging 1.00
IGL01348:Nat8f5 APN 6 85817880 missense probably damaging 0.98
IGL01672:Nat8f5 APN 6 85817952 missense probably damaging 1.00
IGL02009:Nat8f5 APN 6 85817426 missense probably benign 0.01
IGL02493:Nat8f5 APN 6 85817562 missense probably benign 0.01
IGL03346:Nat8f5 APN 6 85817658 missense probably damaging 1.00
IGL03373:Nat8f5 APN 6 85817547 missense probably benign 0.02
E7848:Nat8f5 UTSW 6 85817619 missense probably damaging 0.99
R0034:Nat8f5 UTSW 6 85817886 missense probably benign 0.05
R0670:Nat8f5 UTSW 6 85817975 start codon destroyed probably null 1.00
R1939:Nat8f5 UTSW 6 85817819 missense possibly damaging 0.93
R4514:Nat8f5 UTSW 6 85817423 missense possibly damaging 0.53
R5502:Nat8f5 UTSW 6 85817653 missense probably damaging 1.00
R5770:Nat8f5 UTSW 6 85817675 missense probably damaging 1.00
R8038:Nat8f5 UTSW 6 85817685 missense not run
Z1176:Nat8f5 UTSW 6 85817685 missense not run
Posted On2014-02-04