Incidental Mutation 'R6294:Nat14'
ID 508600
Institutional Source Beutler Lab
Gene Symbol Nat14
Ensembl Gene ENSMUSG00000035285
Gene Name N-acetyltransferase 14
Synonyms
MMRRC Submission 044406-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R6294 (G1)
Quality Score 214.009
Status Validated
Chromosome 7
Chromosomal Location 4925027-4928005 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 4927073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 82 (R82*)
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 null
Transcript: ENSMUST00000047309
AA Change: R82*
SMART Domains Protein: ENSMUSP00000045354
Gene: ENSMUSG00000035285
AA Change: R82*

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 null
Transcript: ENSMUST00000207506
AA Change: R82*
Predicted Effect probably null
Transcript: ENSMUST00000207527
AA Change: R82*
Predicted Effect probably null
Transcript: ENSMUST00000207687
AA Change: R82*
Predicted Effect probably benign
Transcript: ENSMUST00000208754
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 99% (71/72)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,631,440 (GRCm39) H579L probably benign Het
Aldh2 G A 5: 121,710,879 (GRCm39) Q8* probably null Het
Ankdd1a G T 9: 65,427,446 (GRCm39) H10Q probably benign Het
Arpp21 A G 9: 111,956,520 (GRCm39) F453L probably damaging Het
Birc6 C A 17: 74,996,252 (GRCm39) D4461E probably benign Het
Cacna1b A T 2: 24,609,069 (GRCm39) S411T possibly damaging Het
Camk2g A G 14: 20,815,017 (GRCm39) I203T probably damaging Het
Cat A T 2: 103,290,640 (GRCm39) C425S probably benign Het
Ccdc34 A G 2: 109,848,496 (GRCm39) D95G probably benign Het
Clca4b T C 3: 144,630,946 (GRCm39) S305G probably null Het
Cul7 T C 17: 46,974,074 (GRCm39) I1453T probably benign Het
Dlg1 T A 16: 31,656,942 (GRCm39) I612N probably damaging Het
Dync2h1 T G 9: 7,084,986 (GRCm39) K561T probably benign Het
Erbin T C 13: 103,993,564 (GRCm39) T359A probably benign Het
Far2 T A 6: 148,058,980 (GRCm39) L222Q probably damaging Het
Fbxw17 A G 13: 50,577,839 (GRCm39) E114G probably benign Het
Fryl A T 5: 73,349,102 (GRCm39) probably benign Het
Ggn A G 7: 28,873,273 (GRCm39) D666G possibly damaging Het
Hal G A 10: 93,350,005 (GRCm39) probably null Het
Htt A G 5: 34,979,170 (GRCm39) D851G probably benign Het
Ighv14-2 A T 12: 113,958,218 (GRCm39) D74E probably benign Het
Igkv5-43 G A 6: 69,800,426 (GRCm39) S87L probably damaging Het
Klhl29 A T 12: 5,133,995 (GRCm39) F720I probably damaging Het
Klk1b8 T A 7: 43,602,196 (GRCm39) Y43N probably damaging Het
Krtap20-1 T A 16: 88,880,989 (GRCm39) Y7N unknown Het
Lama4 T A 10: 38,951,466 (GRCm39) F1070L probably damaging Het
Map4 A G 9: 109,831,814 (GRCm39) E98G possibly damaging Het
Mbtd1 C T 11: 93,823,058 (GRCm39) H493Y possibly damaging Het
Mki67 A G 7: 135,306,319 (GRCm39) M581T probably benign Het
Mtss2 T A 8: 111,453,960 (GRCm39) N43K possibly damaging Het
Mylk3 T A 8: 86,077,012 (GRCm39) I475F probably damaging Het
Nckap1 T C 2: 80,371,858 (GRCm39) N324S probably benign Het
Nemp1 C T 10: 127,530,391 (GRCm39) T281M possibly damaging Het
Nrg3 A T 14: 38,119,196 (GRCm39) H425Q probably benign Het
Omd T A 13: 49,743,467 (GRCm39) N172K probably damaging Het
Or10c1 T C 17: 37,522,517 (GRCm39) T76A probably benign Het
Or12d12 T A 17: 37,610,444 (GRCm39) T290S probably benign Het
Or4f62 A G 2: 111,986,364 (GRCm39) I23V probably benign Het
Or52a33 A G 7: 103,288,798 (GRCm39) M183T probably damaging Het
Or52r1c A T 7: 102,734,874 (GRCm39) I45F probably benign Het
Or5b123 T C 19: 13,596,730 (GRCm39) V25A probably benign Het
Orc1 T C 4: 108,447,867 (GRCm39) I38T probably benign Het
Oxct1 A G 15: 4,172,304 (GRCm39) T457A possibly damaging Het
Pcdh17 A T 14: 84,715,108 (GRCm39) K924N probably benign Het
Pkhd1l1 A T 15: 44,433,424 (GRCm39) I3435F probably damaging Het
Psg20 C A 7: 18,416,604 (GRCm39) V171F probably damaging Het
Rab11fip2 A T 19: 59,925,531 (GRCm39) S87T probably damaging Het
Rabgap1l T C 1: 160,059,419 (GRCm39) T237A probably benign Het
Rasgrp1 A T 2: 117,122,273 (GRCm39) Y372* probably null Het
Rell1 G T 5: 64,097,048 (GRCm39) probably benign Het
Rps14 A G 18: 60,910,033 (GRCm39) K61E possibly damaging Het
Rtl6 A G 15: 84,441,321 (GRCm39) V25A possibly damaging Het
Ryr2 G T 13: 11,894,382 (GRCm39) S185R probably damaging Het
Slc10a2 C T 8: 5,141,621 (GRCm39) probably null Het
Slc14a1 T A 18: 78,153,273 (GRCm39) probably null Het
Smad2 A T 18: 76,422,233 (GRCm39) N215I probably benign Het
Smchd1 A T 17: 71,677,922 (GRCm39) N1473K probably benign Het
Spag9 A G 11: 93,984,311 (GRCm39) probably null Het
Stk31 A C 6: 49,394,278 (GRCm39) R213S probably benign Het
Tmod4 A T 3: 95,035,617 (GRCm39) Q255L probably benign Het
Tnpo1 T A 13: 99,027,282 (GRCm39) Y3F probably benign Het
Tom1l1 A C 11: 90,552,587 (GRCm39) Y206* probably null Het
Tulp2 A G 7: 45,164,116 (GRCm39) K36E probably damaging Het
Tulp4 C T 17: 6,252,094 (GRCm39) R282C probably damaging Het
Unc5b A T 10: 60,614,110 (GRCm39) N246K possibly damaging Het
Ush2a C G 1: 188,268,567 (GRCm39) S1674R possibly damaging Het
Vmn1r224 T C 17: 20,640,083 (GRCm39) I220T probably benign Het
Vmn1r7 G C 6: 57,001,404 (GRCm39) N285K probably benign Het
Vmn2r83 C T 10: 79,313,688 (GRCm39) P99S probably damaging Het
Zbtb38 A G 9: 96,569,282 (GRCm39) F601L probably benign Het
Zc3h3 A T 15: 75,681,417 (GRCm39) S555T possibly damaging Het
Other mutations in Nat14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02513:Nat14 APN 7 4,927,050 (GRCm39) missense possibly damaging 0.94
IGL02983:Nat14 APN 7 4,927,127 (GRCm39) missense probably damaging 1.00
R0611:Nat14 UTSW 7 4,926,275 (GRCm39) missense probably damaging 0.98
R2113:Nat14 UTSW 7 4,927,038 (GRCm39) missense possibly damaging 0.94
R4496:Nat14 UTSW 7 4,926,918 (GRCm39) missense probably damaging 1.00
R4663:Nat14 UTSW 7 4,927,446 (GRCm39) missense probably damaging 0.99
R7084:Nat14 UTSW 7 4,927,329 (GRCm39) missense possibly damaging 0.75
Predicted Primers PCR Primer
(F):5'- ACCCACAGGCTGGTGTAAAAG -3'
(R):5'- GCTGAATTCCCTAACCAGCATATAG -3'

Sequencing Primer
(F):5'- TGTAAAAGACACGGAAAACCG -3'
(R):5'- TCTGCCTGGTAGCCACAG -3'
Posted On 2018-03-15