Incidental Mutation 'R1499:Atg14'
ID 168728
Institutional Source Beutler Lab
Gene Symbol Atg14
Ensembl Gene ENSMUSG00000037526
Gene Name autophagy related 14
Synonyms Barkor, D14Ertd436e, D14Ertd114e
MMRRC Submission 039550-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.864) question?
Stock # R1499 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 47778350-47805891 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47798102 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 87 (N87S)
Ref Sequence ENSEMBL: ENSMUSP00000153718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042988] [ENSMUST00000226299]
AlphaFold Q8CDJ3
Predicted Effect probably benign
Transcript: ENSMUST00000042988
AA Change: N87S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039047
Gene: ENSMUSG00000037526
AA Change: N87S

DomainStartEndE-ValueType
Pfam:Atg14 43 393 1.1e-79 PFAM
low complexity region 447 464 N/A INTRINSIC
low complexity region 465 480 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000226299
AA Change: N87S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227971
Predicted Effect probably benign
Transcript: ENSMUST00000228784
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.4%
Validation Efficiency 99% (83/84)
MGI Phenotype PHENOTYPE: Mice homozygous for a conditional allele following delivery of a Tat-cre exhibit increased mucin accumulation in colonic epithelial spheroids. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T A 11: 110,030,458 (GRCm39) Y763F probably benign Het
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Actl11 A G 9: 107,808,682 (GRCm39) T1002A probably damaging Het
Ampd1 T A 3: 102,998,980 (GRCm39) N378K probably damaging Het
Arhgap42 A G 9: 9,033,587 (GRCm39) probably benign Het
Arhgap6 C A X: 167,579,499 (GRCm39) P95T possibly damaging Het
Atp9b C T 18: 80,805,353 (GRCm39) C735Y probably damaging Het
Atp9b T A 18: 80,822,122 (GRCm39) T110S probably benign Het
Birc6 T G 17: 74,919,314 (GRCm39) L221R probably damaging Het
Ces1c A G 8: 93,854,233 (GRCm39) F101L probably benign Het
Cfap91 A G 16: 38,141,762 (GRCm39) V390A probably damaging Het
Chsy1 T C 7: 65,821,750 (GRCm39) Y662H probably damaging Het
Cldn12 A T 5: 5,557,900 (GRCm39) F176I probably benign Het
Col5a2 A G 1: 45,450,626 (GRCm39) S374P probably benign Het
Col6a2 A T 10: 76,439,544 (GRCm39) V740E probably damaging Het
Cpne3 A T 4: 19,526,336 (GRCm39) I401K probably damaging Het
Cspp1 T A 1: 10,159,191 (GRCm39) probably null Het
Ddn G A 15: 98,704,647 (GRCm39) T215I possibly damaging Het
Dync1i1 T C 6: 5,769,799 (GRCm39) probably benign Het
Dync2li1 T C 17: 84,954,667 (GRCm39) probably benign Het
Eif2a T A 3: 58,445,005 (GRCm39) L50* probably null Het
Elavl3 G A 9: 21,929,875 (GRCm39) A343V probably damaging Het
Fastkd1 T C 2: 69,538,982 (GRCm39) probably null Het
Fgf8 C A 19: 45,730,786 (GRCm39) V80F possibly damaging Het
Fras1 A T 5: 96,891,046 (GRCm39) E2858D probably benign Het
Fshr A T 17: 89,293,529 (GRCm39) L383Q probably damaging Het
Glb1 A G 9: 114,246,171 (GRCm39) K74R probably benign Het
Gmeb2 T G 2: 180,897,019 (GRCm39) M290L probably benign Het
Gnptg A G 17: 25,454,828 (GRCm39) probably null Het
Grik2 A C 10: 49,008,871 (GRCm39) S739A probably damaging Het
Grk2 T A 19: 4,337,222 (GRCm39) Q659L probably benign Het
Hdhd5 A G 6: 120,491,473 (GRCm39) V210A probably damaging Het
Hyal1 C T 9: 107,455,091 (GRCm39) L134F probably damaging Het
Itgb2 A T 10: 77,381,987 (GRCm39) K18N possibly damaging Het
Jam3 A T 9: 27,017,701 (GRCm39) I29K possibly damaging Het
Kcnh3 C A 15: 99,137,796 (GRCm39) D830E probably benign Het
Kcnmb4 T C 10: 116,309,203 (GRCm39) D75G possibly damaging Het
Kdm4b A G 17: 56,707,025 (GRCm39) Y981C probably damaging Het
Klk1b26 C A 7: 43,665,810 (GRCm39) D207E probably benign Het
Kmt2a G T 9: 44,759,563 (GRCm39) T762N probably benign Het
Kmt2d A G 15: 98,742,819 (GRCm39) probably benign Het
Lama4 T C 10: 38,964,876 (GRCm39) S1414P possibly damaging Het
Lce1f C G 3: 92,626,276 (GRCm39) C127S unknown Het
Map7d1 A G 4: 126,128,558 (GRCm39) probably null Het
Ninl T C 2: 150,822,096 (GRCm39) D2G possibly damaging Het
Or2w1b T A 13: 21,300,303 (GRCm39) M147K probably benign Het
Or5k3 A G 16: 58,969,287 (GRCm39) T25A probably benign Het
Or5m11b C T 2: 85,806,372 (GRCm39) P262S possibly damaging Het
Or6n1 T A 1: 173,916,813 (GRCm39) L69* probably null Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Pax8 A G 2: 24,319,608 (GRCm39) Y381H possibly damaging Het
Pde7a T C 3: 19,314,408 (GRCm39) I63V possibly damaging Het
Pgm3 A T 9: 86,452,340 (GRCm39) F40Y probably benign Het
Phrf1 G T 7: 140,836,564 (GRCm39) D78Y probably damaging Het
Plekhg1 C T 10: 3,890,538 (GRCm39) probably benign Het
Prss59 A T 6: 40,898,652 (GRCm39) S199T probably benign Het
Pum1 T C 4: 130,446,567 (GRCm39) S209P probably damaging Het
Qtrt2 A T 16: 43,689,337 (GRCm39) F220L probably benign Het
Rgs9 A G 11: 109,159,747 (GRCm39) probably null Het
Rin3 A G 12: 102,335,018 (GRCm39) T230A unknown Het
Ros1 A T 10: 51,974,773 (GRCm39) V1604E possibly damaging Het
Rpp14 A G 14: 8,090,528 (GRCm38) M151V probably benign Het
Sacs T A 14: 61,451,153 (GRCm39) F4400I possibly damaging Het
Scamp1 C T 13: 94,361,437 (GRCm39) V148I probably benign Het
Slc13a5 A G 11: 72,141,557 (GRCm39) C428R probably damaging Het
Slc43a2 T G 11: 75,453,733 (GRCm39) probably null Het
Smarcc2 T A 10: 128,299,741 (GRCm39) N135K probably damaging Het
Snx15 G C 19: 6,172,094 (GRCm39) S116R probably damaging Het
Stag1 A G 9: 100,737,885 (GRCm39) E414G possibly damaging Het
Stag1 A T 9: 100,769,426 (GRCm39) probably benign Het
Tmem106a T A 11: 101,481,263 (GRCm39) L257Q possibly damaging Het
Tnc C T 4: 63,882,991 (GRCm39) D1968N probably benign Het
Trim42 A G 9: 97,248,138 (GRCm39) L186P possibly damaging Het
Tshb T A 3: 102,685,624 (GRCm39) probably benign Het
Ttn T A 2: 76,584,484 (GRCm39) D13881V probably damaging Het
Uqcrc2 T C 7: 120,239,506 (GRCm39) V56A probably benign Het
Uty G A Y: 1,197,228 (GRCm39) T113I probably damaging Het
Vps13c A G 9: 67,864,787 (GRCm39) E3032G probably benign Het
Wfdc9 T G 2: 164,493,729 (GRCm39) probably benign Het
Zc3h7a G A 16: 10,980,520 (GRCm39) T31I probably damaging Het
Zfp462 T C 4: 55,060,046 (GRCm39) S1191P probably damaging Het
Other mutations in Atg14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02088:Atg14 APN 14 47,780,316 (GRCm39) missense probably benign 0.00
IGL02513:Atg14 APN 14 47,783,081 (GRCm39) splice site probably benign
IGL02513:Atg14 APN 14 47,786,451 (GRCm39) missense probably benign 0.03
PIT4243001:Atg14 UTSW 14 47,792,031 (GRCm39) missense possibly damaging 0.77
R1463:Atg14 UTSW 14 47,786,451 (GRCm39) missense probably benign 0.03
R1479:Atg14 UTSW 14 47,784,696 (GRCm39) critical splice donor site probably null
R1781:Atg14 UTSW 14 47,786,607 (GRCm39) critical splice acceptor site probably null
R1974:Atg14 UTSW 14 47,783,298 (GRCm39) missense probably damaging 1.00
R2089:Atg14 UTSW 14 47,780,352 (GRCm39) missense probably damaging 1.00
R2091:Atg14 UTSW 14 47,780,352 (GRCm39) missense probably damaging 1.00
R2091:Atg14 UTSW 14 47,780,352 (GRCm39) missense probably damaging 1.00
R2113:Atg14 UTSW 14 47,788,781 (GRCm39) missense probably damaging 1.00
R4231:Atg14 UTSW 14 47,788,802 (GRCm39) missense probably benign 0.00
R4232:Atg14 UTSW 14 47,788,802 (GRCm39) missense probably benign 0.00
R4233:Atg14 UTSW 14 47,788,802 (GRCm39) missense probably benign 0.00
R4234:Atg14 UTSW 14 47,788,802 (GRCm39) missense probably benign 0.00
R4236:Atg14 UTSW 14 47,788,802 (GRCm39) missense probably benign 0.00
R4360:Atg14 UTSW 14 47,805,827 (GRCm39) missense probably benign 0.00
R4711:Atg14 UTSW 14 47,783,298 (GRCm39) missense probably damaging 1.00
R4883:Atg14 UTSW 14 47,788,771 (GRCm39) missense probably damaging 1.00
R5025:Atg14 UTSW 14 47,783,273 (GRCm39) missense probably damaging 1.00
R5235:Atg14 UTSW 14 47,805,656 (GRCm39) missense probably damaging 0.98
R5250:Atg14 UTSW 14 47,805,656 (GRCm39) missense probably damaging 0.98
R5297:Atg14 UTSW 14 47,805,656 (GRCm39) missense probably damaging 0.98
R5301:Atg14 UTSW 14 47,805,656 (GRCm39) missense probably damaging 0.98
R5338:Atg14 UTSW 14 47,805,656 (GRCm39) missense probably damaging 0.98
R5450:Atg14 UTSW 14 47,788,921 (GRCm39) missense probably benign
R5475:Atg14 UTSW 14 47,805,793 (GRCm39) missense possibly damaging 0.83
R5799:Atg14 UTSW 14 47,784,752 (GRCm39) missense possibly damaging 0.63
R6489:Atg14 UTSW 14 47,786,480 (GRCm39) missense probably damaging 0.97
R7589:Atg14 UTSW 14 47,780,547 (GRCm39) missense probably benign 0.00
R7908:Atg14 UTSW 14 47,806,050 (GRCm39) unclassified probably benign
R9478:Atg14 UTSW 14 47,783,138 (GRCm39) missense probably damaging 1.00
R9643:Atg14 UTSW 14 47,788,780 (GRCm39) missense probably damaging 0.99
Z1088:Atg14 UTSW 14 47,805,749 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGTCATAAGGGGCCAACTAACAACTC -3'
(R):5'- GGTTAGATACCTGGTGGTGAGCAGA -3'

Sequencing Primer
(F):5'- tggggaggcagaggcag -3'
(R):5'- CTGGTGGTGAGCAGAGTGTG -3'
Posted On 2014-04-13