Incidental Mutation 'R6489:Atg14'
ID 522682
Institutional Source Beutler Lab
Gene Symbol Atg14
Ensembl Gene ENSMUSG00000037526
Gene Name autophagy related 14
Synonyms Barkor, D14Ertd436e, D14Ertd114e
MMRRC Submission 044621-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.864) question?
Stock # R6489 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 47778350-47805891 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47786480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 258 (D258G)
Ref Sequence ENSEMBL: ENSMUSP00000153718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042988] [ENSMUST00000226299]
AlphaFold Q8CDJ3
Predicted Effect probably damaging
Transcript: ENSMUST00000042988
AA Change: D258G

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000039047
Gene: ENSMUSG00000037526
AA Change: D258G

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 damaging
Transcript: ENSMUST00000226299
AA Change: D258G

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228568
Meta Mutation Damage Score 0.3722 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.3%
  • 20x: 90.6%
Validation Efficiency 100% (61/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadvl T C 11: 69,901,145 (GRCm39) T650A probably benign Het
Alkbh7 T A 17: 57,305,979 (GRCm39) S127T probably damaging Het
Ank3 G A 10: 69,827,459 (GRCm39) A565T probably benign Het
App G T 16: 84,853,408 (GRCm39) D223E unknown Het
Arhgef2 C A 3: 88,550,321 (GRCm39) S675R probably damaging Het
Calhm5 A T 10: 33,968,502 (GRCm39) W184R probably damaging Het
Cbr1b A T 16: 93,427,286 (GRCm39) probably null Het
Ckap2l T C 2: 129,111,034 (GRCm39) D721G possibly damaging Het
Cog8 T C 8: 107,776,933 (GRCm39) T481A probably benign Het
Colec10 C A 15: 54,325,609 (GRCm39) probably null Het
Cplx3 A T 9: 57,521,009 (GRCm39) probably null Het
Dhx9 T C 1: 153,332,389 (GRCm39) probably benign Het
Dock1 T C 7: 134,592,270 (GRCm39) M935T probably damaging Het
Dsg4 T A 18: 20,604,420 (GRCm39) N962K possibly damaging Het
Dym T C 18: 75,213,297 (GRCm39) V173A probably benign Het
Exoc3l4 A G 12: 111,395,131 (GRCm39) Y583C probably damaging Het
Flnb G A 14: 7,867,551 (GRCm38) V103M probably damaging Het
Fzd1 T A 5: 4,807,336 (GRCm39) Q82L probably benign Het
Gabrr1 A G 4: 33,162,855 (GRCm39) I474V probably benign Het
Galnt11 G T 5: 25,469,964 (GRCm39) W521L probably damaging Het
Glb1l3 A G 9: 26,738,127 (GRCm39) V420A probably benign Het
H1f7 A T 15: 98,154,888 (GRCm39) L87* probably null Het
Homer2 T C 7: 81,274,026 (GRCm39) T57A probably benign Het
Ihh T A 1: 74,985,670 (GRCm39) T272S probably damaging Het
Il27ra T C 8: 84,758,179 (GRCm39) M524V probably benign Het
Mdp1 C A 14: 55,897,848 (GRCm39) probably benign Het
Med12l A G 3: 59,164,828 (GRCm39) K1436R probably damaging Het
Megf10 C T 18: 57,424,879 (GRCm39) S1006F probably benign Het
Miga1 A T 3: 151,984,645 (GRCm39) I426N probably damaging Het
Mtmr6 C T 14: 60,537,963 (GRCm39) T654I possibly damaging Het
Nbeal1 A G 1: 60,370,101 (GRCm39) S2673G possibly damaging Het
Nup93 T A 8: 95,028,716 (GRCm39) H193Q probably benign Het
Or1e25 T A 11: 73,494,265 (GRCm39) N286K probably damaging Het
Or4f7 A C 2: 111,644,405 (GRCm39) L222W probably damaging Het
Or52ae9 T C 7: 103,389,875 (GRCm39) N191D probably benign Het
Pdcd11 C T 19: 47,098,191 (GRCm39) R826C probably damaging Het
Pde4dip G A 3: 97,662,907 (GRCm39) R521* probably null Het
Phf2 T C 13: 48,979,658 (GRCm39) S158G unknown Het
Pla2g15 A G 8: 106,889,826 (GRCm39) E366G probably benign Het
Plekhm2 A T 4: 141,359,344 (GRCm39) H494Q probably damaging Het
Prpsap2 A T 11: 61,639,890 (GRCm39) M87K probably damaging Het
Rbm19 T G 5: 120,258,195 (GRCm39) S137A probably benign Het
Ryr2 T A 13: 11,848,893 (GRCm39) I363L probably benign Het
Samd9l T C 6: 3,376,896 (GRCm39) T122A probably benign Het
Scn4a G C 11: 106,240,006 (GRCm39) D70E probably benign Het
Slc12a3 T A 8: 95,061,632 (GRCm39) V293D possibly damaging Het
Slc6a7 T C 18: 61,140,615 (GRCm39) Y139C probably damaging Het
Slco2b1 A T 7: 99,339,762 (GRCm39) C9* probably null Het
Slitrk1 A T 14: 109,148,735 (GRCm39) S659T possibly damaging Het
Son T G 16: 91,452,044 (GRCm39) S264A possibly damaging Het
Svep1 C A 4: 58,100,066 (GRCm39) G1326V probably damaging Het
Tcf12 A G 9: 71,922,918 (GRCm39) probably null Het
Ttn A G 2: 76,645,062 (GRCm39) V11185A probably damaging Het
Ubap2 T C 4: 41,203,574 (GRCm39) probably null Het
Utp15 G T 13: 98,387,117 (GRCm39) F434L probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vsnl1 T G 12: 11,382,219 (GRCm39) probably benign Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zbtb34 A C 2: 33,301,558 (GRCm39) S328A probably damaging Het
Zdbf2 T C 1: 63,346,637 (GRCm39) I1672T possibly 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
R1499:Atg14 UTSW 14 47,798,102 (GRCm39) missense probably benign
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
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'- CGAACGAATGCTGTACACAC -3'
(R):5'- AGATGTATACTGTGGCTGCG -3'

Sequencing Primer
(F):5'- GGCAGCATTCTTCACTCCGG -3'
(R):5'- ATACTGTGGCTGCGGTATAATC -3'
Posted On 2018-06-06