Incidental Mutation 'IGL00092:Atg16l1'
ID1973
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atg16l1
Ensembl Gene ENSMUSG00000026289
Gene Nameautophagy related 16-like 1 (S. cerevisiae)
Synonyms1500009K01Rik, APG16L, WDR30
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00092
Quality Score
Status
Chromosome1
Chromosomal Location87755870-87792428 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 87765397 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 28 (I28T)
Ref Sequence ENSEMBL: ENSMUSP00000120955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027512] [ENSMUST00000113186] [ENSMUST00000113190] [ENSMUST00000144047]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027512
AA Change: I90T

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000027512
Gene: ENSMUSG00000026289
AA Change: I90T

DomainStartEndE-ValueType
Pfam:ATG16 13 207 1.3e-63 PFAM
low complexity region 237 246 N/A INTRINSIC
WD40 311 350 7.05e-9 SMART
WD40 355 394 7.28e-2 SMART
WD40 397 436 1.07e-8 SMART
WD40 439 475 3.7e0 SMART
WD40 478 516 5.35e-1 SMART
WD40 519 562 1.2e-2 SMART
WD40 565 605 6.89e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000113186
AA Change: I90T

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108811
Gene: ENSMUSG00000026289
AA Change: I90T

DomainStartEndE-ValueType
Pfam:ATG16 13 207 3.7e-64 PFAM
low complexity region 237 246 N/A INTRINSIC
low complexity region 257 271 N/A INTRINSIC
WD40 292 331 7.05e-9 SMART
WD40 336 375 7.28e-2 SMART
WD40 378 417 1.07e-8 SMART
WD40 420 456 3.7e0 SMART
WD40 459 497 5.35e-1 SMART
WD40 500 543 1.2e-2 SMART
WD40 546 586 6.89e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000113190
AA Change: I90T

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108815
Gene: ENSMUSG00000026289
AA Change: I90T

DomainStartEndE-ValueType
Pfam:ATG16 16 206 6.5e-49 PFAM
low complexity region 237 246 N/A INTRINSIC
low complexity region 295 306 N/A INTRINSIC
WD40 327 366 7.05e-9 SMART
WD40 371 410 7.28e-2 SMART
WD40 413 452 1.07e-8 SMART
WD40 455 491 3.7e0 SMART
WD40 494 532 5.35e-1 SMART
WD40 535 578 1.2e-2 SMART
WD40 581 621 6.89e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129431
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133072
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134603
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137638
Predicted Effect possibly damaging
Transcript: ENSMUST00000144047
AA Change: I28T

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000120955
Gene: ENSMUSG00000026289
AA Change: I28T

DomainStartEndE-ValueType
Pfam:ATG16 1 145 2.9e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151037
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a large protein complex that is necessary for autophagy, the major process by which intracellular components are targeted to lysosomes for degradation. Defects in this gene are a cause of susceptibility to inflammatory bowel disease type 10 (IBD10). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]
PHENOTYPE: Null homozygotes have a cellular defect in autophagy that results in lethality during the neonatal starvation period. Mice homozygous for hypomorphic alleles have Paneth cells with aberrant, disorganized granules similar to those found in patients with Crohn's disease. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,928,695 D443G probably benign Het
Bpi T A 2: 158,274,796 V371E probably damaging Het
Cd109 T G 9: 78,616,969 V55G probably damaging Het
Cd300c2 T C 11: 115,001,549 probably benign Het
Cic C T 7: 25,292,124 R1280C probably damaging Het
Cngb1 G A 8: 95,242,184 probably benign Het
Cntn4 G T 6: 106,506,225 C247F probably damaging Het
Disp3 C T 4: 148,241,534 V1256I probably benign Het
Farsb A T 1: 78,462,993 S338T probably benign Het
Fcnb T C 2: 28,076,801 N240S probably benign Het
Flg2 A G 3: 93,219,855 S5G possibly damaging Het
Git1 T C 11: 77,505,957 L635P probably benign Het
Gm21985 T G 2: 112,351,334 W685G probably damaging Het
Gpt2 T C 8: 85,512,324 V262A probably benign Het
Hecw2 A G 1: 53,830,737 V1444A probably damaging Het
Herc1 T C 9: 66,483,966 V4017A probably benign Het
Klhl17 T C 4: 156,233,690 T129A possibly damaging Het
Krt84 T G 15: 101,528,735 D331A probably damaging Het
Lrrc9 C T 12: 72,486,243 T963M possibly damaging Het
Mtcl1 C T 17: 66,344,319 V935I probably benign Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Myocd T C 11: 65,180,944 probably null Het
Nid1 A G 13: 13,476,392 N505D probably damaging Het
Ninj1 A T 13: 49,193,734 probably null Het
Olfr1375 C A 11: 51,048,400 Q98K probably benign Het
Olfr1426 A T 19: 12,087,993 D266E probably benign Het
Olfr307 C T 7: 86,336,061 V112I probably benign Het
Plscr2 T A 9: 92,290,632 probably benign Het
Ppfia2 A G 10: 106,819,492 T307A probably benign Het
Sart3 T C 5: 113,746,669 R625G probably benign Het
Sohlh2 T A 3: 55,207,815 L407H probably damaging Het
Sorcs1 A G 19: 50,190,054 S877P probably damaging Het
Stat1 T C 1: 52,122,595 M1T probably null Het
Szt2 C T 4: 118,384,250 probably benign Het
Tarsl2 G T 7: 65,652,259 probably null Het
Terb2 T A 2: 122,198,386 S141R probably benign Het
Tgfbrap1 T C 1: 43,060,123 Y177C probably damaging Het
Trappc9 A T 15: 73,026,026 I169N possibly damaging Het
Trim47 A G 11: 116,106,194 L578P probably damaging Het
Usp34 G A 11: 23,436,020 R2149H probably damaging Het
Vmn2r90 T C 17: 17,733,496 S641P probably benign Het
Vwa5a T A 9: 38,737,814 probably null Het
Zzef1 T A 11: 72,875,126 I1493N probably benign Het
Other mutations in Atg16l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00861:Atg16l1 APN 1 87774838 missense probably damaging 1.00
IGL01065:Atg16l1 APN 1 87785931 missense probably damaging 0.99
IGL01068:Atg16l1 APN 1 87774824 missense probably damaging 1.00
IGL01140:Atg16l1 APN 1 87774853 missense probably benign 0.03
R0023:Atg16l1 UTSW 1 87789465 missense probably benign 0.00
R0023:Atg16l1 UTSW 1 87789465 missense probably benign 0.00
R0650:Atg16l1 UTSW 1 87781699 missense possibly damaging 0.93
R0655:Atg16l1 UTSW 1 87766829 missense probably damaging 1.00
R1421:Atg16l1 UTSW 1 87786358 splice site probably benign
R1549:Atg16l1 UTSW 1 87774188 missense probably benign
R2202:Atg16l1 UTSW 1 87767015 missense probably benign 0.03
R2204:Atg16l1 UTSW 1 87767015 missense probably benign 0.03
R3689:Atg16l1 UTSW 1 87785904 missense probably damaging 1.00
R4012:Atg16l1 UTSW 1 87766907 missense probably damaging 1.00
R4391:Atg16l1 UTSW 1 87760120 missense probably damaging 0.97
R4839:Atg16l1 UTSW 1 87766174 missense probably damaging 0.99
R4935:Atg16l1 UTSW 1 87767042 missense possibly damaging 0.69
R4980:Atg16l1 UTSW 1 87766831 missense possibly damaging 0.89
R4990:Atg16l1 UTSW 1 87789369 missense probably benign 0.00
R5011:Atg16l1 UTSW 1 87774180 nonsense probably null
R5457:Atg16l1 UTSW 1 87775091 missense probably damaging 0.96
R5897:Atg16l1 UTSW 1 87785997 critical splice donor site probably null
R6289:Atg16l1 UTSW 1 87756215 missense probably damaging 0.99
R6437:Atg16l1 UTSW 1 87790648 missense probably damaging 1.00
R6727:Atg16l1 UTSW 1 87774854 missense possibly damaging 0.68
R6923:Atg16l1 UTSW 1 87774356 intron probably null
R7423:Atg16l1 UTSW 1 87786301 missense probably damaging 1.00
R7475:Atg16l1 UTSW 1 87760083 missense possibly damaging 0.89
Posted On2011-07-12