Incidental Mutation 'IGL02983:Nat14'
ID 406636
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nat14
Ensembl Gene ENSMUSG00000035285
Gene Name N-acetyltransferase 14
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.099) question?
Stock # IGL02983
Quality Score
Status
Chromosome 7
Chromosomal Location 4922028-4925006 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 4924128 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 100 (A100T)
Ref Sequence ENSEMBL: ENSMUSP00000147229 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047309] [ENSMUST00000057612] [ENSMUST00000116354] [ENSMUST00000207506] [ENSMUST00000207527] [ENSMUST00000207687] [ENSMUST00000208754]
AlphaFold Q8BVG8
Predicted Effect probably damaging
Transcript: ENSMUST00000047309
AA Change: A100T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045354
Gene: ENSMUSG00000035285
AA Change: A100T

DomainStartEndE-ValueType
low complexity region 35 51 N/A INTRINSIC
transmembrane domain 55 77 N/A INTRINSIC
low complexity region 88 97 N/A INTRINSIC
Pfam:Acetyltransf_1 101 186 4.1e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000057612
SMART Domains Protein: ENSMUSP00000052126
Gene: ENSMUSG00000035279

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
SR 20 120 4.44e-49 SMART
low complexity region 141 155 N/A INTRINSIC
low complexity region 167 182 N/A INTRINSIC
SR 199 299 2.36e-53 SMART
SR 305 405 8.22e-53 SMART
low complexity region 437 462 N/A INTRINSIC
SR 464 565 1.11e-49 SMART
low complexity region 741 755 N/A INTRINSIC
SR 758 858 3.93e-50 SMART
low complexity region 936 957 N/A INTRINSIC
low complexity region 981 1004 N/A INTRINSIC
low complexity region 1018 1035 N/A INTRINSIC
low complexity region 1218 1230 N/A INTRINSIC
low complexity region 1357 1364 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000116354
SMART Domains Protein: ENSMUSP00000112058
Gene: ENSMUSG00000074406

DomainStartEndE-ValueType
low complexity region 13 32 N/A INTRINSIC
ZnF_C2H2 34 56 1.04e-3 SMART
ZnF_C2H2 62 84 2.4e-3 SMART
ZnF_C2H2 90 112 2.09e-3 SMART
ZnF_C2H2 118 140 1.56e-2 SMART
ZnF_C2H2 146 168 3.69e-4 SMART
ZnF_C2H2 174 196 7.49e-5 SMART
ZnF_C2H2 202 224 1.69e-3 SMART
low complexity region 225 238 N/A INTRINSIC
low complexity region 255 275 N/A INTRINSIC
ZnF_C2H2 289 309 1.38e2 SMART
low complexity region 334 344 N/A INTRINSIC
ZnF_C2H2 346 368 1.76e-1 SMART
ZnF_C2H2 376 398 9.3e-1 SMART
low complexity region 422 440 N/A INTRINSIC
ZnF_C2H2 446 468 2.75e-3 SMART
ZnF_C2H2 474 496 1.69e-3 SMART
ZnF_C2H2 502 524 1.45e-2 SMART
ZnF_C2H2 530 552 1.03e-2 SMART
ZnF_C2H2 558 580 3.44e-4 SMART
ZnF_C2H2 586 608 2.61e-4 SMART
ZnF_C2H2 614 636 7.9e-4 SMART
low complexity region 685 703 N/A INTRINSIC
low complexity region 716 756 N/A INTRINSIC
low complexity region 770 792 N/A INTRINSIC
low complexity region 981 1000 N/A INTRINSIC
low complexity region 1001 1018 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000207506
AA Change: A100T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000207527
AA Change: A100T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000207687
AA Change: A100T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000208754
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020D05Rik A G 19: 5,503,181 F191L possibly damaging Het
Abca13 A G 11: 9,290,663 N842S probably benign Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Brip1 T C 11: 86,139,124 I565V probably benign Het
Camta2 C T 11: 70,672,022 R959Q probably damaging Het
Cbln2 A G 18: 86,713,379 E104G probably benign Het
Cdc42ep4 T C 11: 113,729,169 K132R probably benign Het
Clcnka T A 4: 141,390,131 I452F probably damaging Het
Clec4a3 T A 6: 122,967,567 probably null Het
Crat A C 2: 30,404,526 probably null Het
Cspp1 A G 1: 10,127,525 K227R probably benign Het
Ddx1 A T 12: 13,223,862 I588N probably damaging Het
Dip2b G T 15: 100,132,022 R98L possibly damaging Het
Dock5 G A 14: 67,764,670 P1617L probably damaging Het
Fa2h C T 8: 111,346,522 probably null Het
Fezf1 T A 6: 23,247,872 N68I probably damaging Het
Gabrb2 A T 11: 42,421,400 L17F probably benign Het
Gm17078 T C 14: 51,611,190 K30R probably benign Het
Gramd4 G A 15: 86,127,018 V249M probably damaging Het
Kcnd2 A C 6: 21,216,555 D86A probably damaging Het
Lrp1 T C 10: 127,550,199 E3486G probably damaging Het
Ltb A G 17: 35,194,670 D50G probably benign Het
Med18 A T 4: 132,459,686 Y167* probably null Het
Nxph2 T C 2: 23,400,362 V242A probably damaging Het
Olfr338 T A 2: 36,377,637 I287N probably damaging Het
Olfr443-ps1 T C 6: 43,094,648 noncoding transcript Het
Olfr54 T C 11: 51,027,380 V126A probably damaging Het
Olfr818 T A 10: 129,945,189 N291I probably damaging Het
Pramef20 T C 4: 144,373,127 E356G probably benign Het
Rad21l A G 2: 151,655,120 L358S probably damaging Het
Rasgef1c A G 11: 49,957,049 T4A possibly damaging Het
Spata31d1a A G 13: 59,703,694 S207P possibly damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Szt2 T C 4: 118,365,779 probably benign Het
Taf6 T C 5: 138,178,880 T642A probably benign Het
Tmem30a A T 9: 79,771,443 M277K possibly damaging Het
Vmn1r86 T C 7: 13,102,814 D45G probably damaging Het
Xkr5 T C 8: 18,933,832 I565V probably benign Het
Zfp526 C T 7: 25,224,415 A33V probably benign Het
Other mutations in Nat14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02513:Nat14 APN 7 4924051 missense possibly damaging 0.94
R0611:Nat14 UTSW 7 4923276 missense probably damaging 0.98
R2113:Nat14 UTSW 7 4924039 missense possibly damaging 0.94
R4496:Nat14 UTSW 7 4923919 missense probably damaging 1.00
R4663:Nat14 UTSW 7 4924447 missense probably damaging 0.99
R6294:Nat14 UTSW 7 4924074 nonsense probably null
R7084:Nat14 UTSW 7 4924330 missense possibly damaging 0.75
Posted On 2016-08-02