Incidental Mutation 'IGL02513:Atg14'
ID296656
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atg14
Ensembl Gene ENSMUSG00000037526
Gene Nameautophagy related 14
SynonymsBarkor, D14Ertd436e, D14Ertd114e
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.891) question?
Stock #IGL02513
Quality Score
Status
Chromosome14
Chromosomal Location47540893-47570649 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 47545624 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042988] [ENSMUST00000226299]
Predicted Effect probably benign
Transcript: ENSMUST00000042988
SMART Domains Protein: ENSMUSP00000039047
Gene: ENSMUSG00000037526

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228568
Coding Region Coverage
Validation Efficiency
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apob G T 12: 7,992,979 V787F probably benign Het
Atm A T 9: 53,497,262 probably benign Het
Atp5s A T 12: 69,741,045 Y85F probably benign Het
Ccdc9 A G 7: 16,284,509 probably benign Het
Cers6 T C 2: 69,068,669 F217S probably benign Het
Crebbp A C 16: 4,126,605 probably null Het
Csmd1 T A 8: 15,999,869 probably benign Het
Eml1 T A 12: 108,530,312 V609E probably damaging Het
Fam155a T A 8: 9,207,930 D406V probably benign Het
Fryl A G 5: 73,065,293 S204P probably damaging Het
Gpr152 A G 19: 4,142,844 D128G probably damaging Het
Itgal T A 7: 127,328,672 V1013D possibly damaging Het
Kctd18 A G 1: 57,965,400 Y112H probably damaging Het
Kdm4d T A 9: 14,464,554 T3S probably benign Het
Lrp1b C T 2: 41,110,753 probably null Het
Mex3c T A 18: 73,590,289 D484E possibly damaging Het
Nat14 T C 7: 4,924,051 V74A possibly damaging Het
Olfr11 A G 13: 21,639,340 F61S probably damaging Het
Pabpc2 C T 18: 39,775,140 T486I probably benign Het
Pgm1 A G 5: 64,102,946 probably benign Het
Pkn3 T A 2: 30,083,137 I353N probably damaging Het
Rbm44 T A 1: 91,155,538 S594R possibly damaging Het
Rrbp1 C T 2: 143,988,430 A606T possibly damaging Het
Tcof1 A G 18: 60,831,778 V623A possibly damaging Het
Tg A G 15: 66,705,274 E1482G probably benign Het
Uba1 A G X: 20,675,646 T546A probably benign Het
Vmn2r37 T C 7: 9,217,935 K310E probably benign Het
Zbtb38 A T 9: 96,687,073 W653R probably damaging Het
Zdhhc19 A T 16: 32,499,622 I99F probably damaging Het
Zfp236 T C 18: 82,630,114 Y974C probably damaging Het
Other mutations in Atg14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02088:Atg14 APN 14 47542859 missense probably benign 0.00
IGL02513:Atg14 APN 14 47548994 missense probably benign 0.03
PIT4243001:Atg14 UTSW 14 47554574 missense possibly damaging 0.77
R1463:Atg14 UTSW 14 47548994 missense probably benign 0.03
R1479:Atg14 UTSW 14 47547239 critical splice donor site probably null
R1499:Atg14 UTSW 14 47560645 missense probably benign
R1781:Atg14 UTSW 14 47549150 critical splice acceptor site probably null
R1974:Atg14 UTSW 14 47545841 missense probably damaging 1.00
R2089:Atg14 UTSW 14 47542895 missense probably damaging 1.00
R2091:Atg14 UTSW 14 47542895 missense probably damaging 1.00
R2091:Atg14 UTSW 14 47542895 missense probably damaging 1.00
R2113:Atg14 UTSW 14 47551324 missense probably damaging 1.00
R4231:Atg14 UTSW 14 47551345 missense probably benign 0.00
R4232:Atg14 UTSW 14 47551345 missense probably benign 0.00
R4233:Atg14 UTSW 14 47551345 missense probably benign 0.00
R4234:Atg14 UTSW 14 47551345 missense probably benign 0.00
R4236:Atg14 UTSW 14 47551345 missense probably benign 0.00
R4360:Atg14 UTSW 14 47568370 missense probably benign 0.00
R4711:Atg14 UTSW 14 47545841 missense probably damaging 1.00
R4883:Atg14 UTSW 14 47551314 missense probably damaging 1.00
R5025:Atg14 UTSW 14 47545816 missense probably damaging 1.00
R5235:Atg14 UTSW 14 47568199 missense probably damaging 0.98
R5250:Atg14 UTSW 14 47568199 missense probably damaging 0.98
R5297:Atg14 UTSW 14 47568199 missense probably damaging 0.98
R5301:Atg14 UTSW 14 47568199 missense probably damaging 0.98
R5338:Atg14 UTSW 14 47568199 missense probably damaging 0.98
R5450:Atg14 UTSW 14 47551464 missense probably benign
R5475:Atg14 UTSW 14 47568336 missense possibly damaging 0.83
R5799:Atg14 UTSW 14 47547295 missense possibly damaging 0.63
R6489:Atg14 UTSW 14 47549023 missense probably damaging 0.97
R7589:Atg14 UTSW 14 47543090 missense probably benign 0.00
R7908:Atg14 UTSW 14 47568593 unclassified probably benign
Z1088:Atg14 UTSW 14 47568292 missense probably damaging 1.00
Posted On2015-04-16