Incidental Mutation 'IGL01644:Atg16l2'
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ID102589
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atg16l2
Ensembl Gene ENSMUSG00000047767
Gene Nameautophagy related 16-like 2 (S. cerevisiae)
Synonyms2410118P20Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.117) question?
Stock #IGL01644
Quality Score
Status
Chromosome7
Chromosomal Location101263034-101302251 bp(-) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) A to G at 101297217 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Arginine at position 82 (*82R)
Ref Sequence ENSEMBL: ENSMUSP00000116414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120267] [ENSMUST00000122116] [ENSMUST00000139609] [ENSMUST00000140553] [ENSMUST00000143630] [ENSMUST00000207121]
Predicted Effect possibly damaging
Transcript: ENSMUST00000120267
AA Change: V116A

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112500
Gene: ENSMUSG00000047767
AA Change: V116A

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:ATG16 20 211 2.3e-36 PFAM
WD40 329 368 1.13e-7 SMART
WD40 373 412 6.79e-2 SMART
WD40 415 454 1.08e-4 SMART
WD40 457 493 2.97e0 SMART
WD40 496 534 1.61e-3 SMART
WD40 539 580 1.66e0 SMART
WD40 583 623 2.8e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000122116
AA Change: V116A

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113320
Gene: ENSMUSG00000047767
AA Change: V116A

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:ATG16 17 212 5.4e-14 PFAM
WD40 308 347 1.13e-7 SMART
WD40 352 391 6.79e-2 SMART
WD40 394 433 1.08e-4 SMART
WD40 436 472 2.97e0 SMART
WD40 475 513 1.61e-3 SMART
WD40 518 559 1.66e0 SMART
WD40 562 602 2.8e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123835
Predicted Effect possibly damaging
Transcript: ENSMUST00000139609
AA Change: V116A

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000117387
Gene: ENSMUSG00000047767
AA Change: V116A

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:ATG16 17 212 1.8e-13 PFAM
WD40 329 368 1.13e-7 SMART
Blast:WD40 373 395 6e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140059
SMART Domains Protein: ENSMUSP00000119734
Gene: ENSMUSG00000047767

DomainStartEndE-ValueType
WD40 76 115 1.13e-7 SMART
Predicted Effect probably null
Transcript: ENSMUST00000140553
AA Change: *82R
SMART Domains Protein: ENSMUSP00000116414
Gene: ENSMUSG00000047767
AA Change: *82R

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000143630
AA Change: V116A

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000117029
Gene: ENSMUSG00000047767
AA Change: V116A

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:ATG16 17 212 1.8e-13 PFAM
WD40 329 368 1.13e-7 SMART
Blast:WD40 373 395 6e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151297
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153327
Predicted Effect probably benign
Transcript: ENSMUST00000207121
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209093
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit lymphopenia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Crb1 T A 1: 139,237,630 R919* probably null Het
Csf1 T C 3: 107,753,842 T120A possibly damaging Het
Defa29 A T 8: 21,326,121 C77S possibly damaging Het
Defb7 A T 8: 19,497,701 probably benign Het
Ece2 T C 16: 20,617,866 V146A possibly damaging Het
Efcab6 T A 15: 84,033,072 S96C probably damaging Het
Gm7729 T C 18: 27,598,819 noncoding transcript Het
Hapln2 G T 3: 88,022,637 R311S probably damaging Het
Impg2 C T 16: 56,259,870 P679L probably benign Het
Kansl1l A G 1: 66,801,316 I275T probably benign Het
Med29 A G 7: 28,390,847 F108L probably damaging Het
Nrxn1 C T 17: 90,620,873 C789Y possibly damaging Het
Olfr1230 T C 2: 89,296,632 I213V probably benign Het
Olfr1490 A T 19: 13,655,404 probably benign Het
Palld T C 8: 61,877,478 K122E probably benign Het
Ppl A T 16: 5,091,855 L864H probably damaging Het
Ptov1 C A 7: 44,867,502 E37* probably null Het
Sspo T C 6: 48,452,502 V482A probably benign Het
St7l C T 3: 104,919,456 R377* probably null Het
Ttn G T 2: 76,755,383 P13643T probably damaging Het
Vcan T A 13: 89,688,675 T2917S probably benign Het
Other mutations in Atg16l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Atg16l2 APN 7 101300160 missense probably damaging 1.00
IGL00402:Atg16l2 APN 7 101296153 missense probably benign 0.00
IGL00662:Atg16l2 APN 7 101289896 missense probably benign 0.00
IGL00905:Atg16l2 APN 7 101300166 missense probably damaging 1.00
IGL02839:Atg16l2 APN 7 101293397 missense probably damaging 1.00
R0316:Atg16l2 UTSW 7 101293396 missense probably damaging 1.00
R0638:Atg16l2 UTSW 7 101300110 critical splice donor site probably null
R0683:Atg16l2 UTSW 7 101290384 missense probably damaging 1.00
R1436:Atg16l2 UTSW 7 101291550 missense probably damaging 1.00
R1592:Atg16l2 UTSW 7 101291986 missense probably damaging 1.00
R1623:Atg16l2 UTSW 7 101289906 missense probably benign 0.01
R2002:Atg16l2 UTSW 7 101294920 missense possibly damaging 0.62
R2090:Atg16l2 UTSW 7 101293368 splice site probably null
R2103:Atg16l2 UTSW 7 101290361 critical splice donor site probably null
R2349:Atg16l2 UTSW 7 101296539 missense probably damaging 0.96
R4738:Atg16l2 UTSW 7 101297178 missense probably damaging 1.00
R4739:Atg16l2 UTSW 7 101297178 missense probably damaging 1.00
R4740:Atg16l2 UTSW 7 101297178 missense probably damaging 1.00
R5704:Atg16l2 UTSW 7 101300211 missense probably damaging 1.00
R6243:Atg16l2 UTSW 7 101292329 makesense probably null
R6257:Atg16l2 UTSW 7 101301895 splice site probably null
R6613:Atg16l2 UTSW 7 101290581 critical splice donor site probably null
Posted On2014-01-21