Incidental Mutation 'R8493:Atg16l1'
ID 658090
Institutional Source Beutler Lab
Gene Symbol Atg16l1
Ensembl Gene ENSMUSG00000026289
Gene Name autophagy related 16 like 1
Synonyms WDR30, APG16L, 1500009K01Rik
MMRRC Submission 067935-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8493 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 87683730-87720150 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 87706704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 355 (T355P)
Ref Sequence ENSEMBL: ENSMUSP00000108815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027512] [ENSMUST00000113186] [ENSMUST00000113190]
AlphaFold Q8C0J2
Predicted Effect probably damaging
Transcript: ENSMUST00000027512
AA Change: T339P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027512
Gene: ENSMUSG00000026289
AA Change: T339P

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 probably damaging
Transcript: ENSMUST00000113186
AA Change: T320P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108811
Gene: ENSMUSG00000026289
AA Change: T320P

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 probably damaging
Transcript: ENSMUST00000113190
AA Change: T355P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108815
Gene: ENSMUSG00000026289
AA Change: T355P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A T 16: 4,653,453 (GRCm39) M1L unknown Het
Abca13 T A 11: 9,460,668 (GRCm39) I4226N probably damaging Het
Ankrd10 C A 8: 11,678,518 (GRCm39) E125* probably null Het
Apob A T 12: 8,059,009 (GRCm39) D2497V possibly damaging Het
Arap1 G A 7: 101,035,725 (GRCm39) W87* probably null Het
Arhgef37 C T 18: 61,640,277 (GRCm39) V261I probably benign Het
Arl4a A C 12: 40,086,472 (GRCm39) C92G probably benign Het
Arrdc2 C T 8: 71,289,501 (GRCm39) probably null Het
Card14 T G 11: 119,224,435 (GRCm39) probably null Het
Cd109 G A 9: 78,564,801 (GRCm39) V249I probably benign Het
Cdhr4 A G 9: 107,873,453 (GRCm39) D395G probably damaging Het
Celsr1 C A 15: 85,822,207 (GRCm39) M1703I possibly damaging Het
Cfap157 A G 2: 32,669,752 (GRCm39) I277T probably benign Het
Chst4 A G 8: 110,757,095 (GRCm39) V173A probably damaging Het
Clca4b T C 3: 144,617,911 (GRCm39) N731D probably benign Het
Col11a2 A G 17: 34,278,936 (GRCm39) E1122G possibly damaging Het
Csf1r C G 18: 61,247,954 (GRCm39) P341A probably damaging Het
Dclk3 A G 9: 111,297,215 (GRCm39) E253G probably benign Het
Dnah2 T A 11: 69,343,804 (GRCm39) D2829V probably damaging Het
Dnah7a T C 1: 53,512,067 (GRCm39) N2998S probably damaging Het
Ehbp1 C T 11: 22,235,842 (GRCm39) probably benign Het
Eprs1 A T 1: 185,139,371 (GRCm39) K919* probably null Het
Esp16 A T 17: 39,850,821 (GRCm39) K67* probably null Het
Fam169a G T 13: 97,259,367 (GRCm39) E474D probably benign Het
Fam83h C T 15: 75,874,502 (GRCm39) R945H probably benign Het
Flnb T A 14: 7,869,822 (GRCm38) V195E probably damaging Het
Gm3159 T C 14: 4,398,567 (GRCm38) I86T probably damaging Het
Gm4744 G A 6: 40,926,281 (GRCm39) S103F Het
Gvin2 A G 7: 105,548,088 (GRCm39) S1655P probably benign Het
Ift122 T A 6: 115,887,292 (GRCm39) I713N probably benign Het
Ilkap A G 1: 91,306,266 (GRCm39) I105T probably damaging Het
Isl1 G T 13: 116,441,835 (GRCm39) H133N possibly damaging Het
Jade1 T A 3: 41,559,113 (GRCm39) L398Q possibly damaging Het
Kcnh7 C T 2: 62,681,003 (GRCm39) V195M probably benign Het
Kif3a A T 11: 53,489,627 (GRCm39) K669* probably null Het
L3mbtl4 G A 17: 68,937,239 (GRCm39) R420H probably damaging Het
Mrgprb1 A T 7: 48,097,321 (GRCm39) I197N probably damaging Het
Mthfd1 A G 12: 76,340,929 (GRCm39) T263A probably damaging Het
Mtmr7 G A 8: 41,059,927 (GRCm39) A62V possibly damaging Het
Naxe A G 3: 87,965,757 (GRCm39) probably benign Het
Ndufs2 T C 1: 171,068,677 (GRCm39) T51A probably benign Het
Nlrc5 T A 8: 95,249,848 (GRCm39) L1824Q probably damaging Het
Notch1 A G 2: 26,362,251 (GRCm39) V27A unknown Het
Nucks1 A T 1: 131,857,473 (GRCm39) M169L probably benign Het
Or10ag53 T A 2: 87,083,215 (GRCm39) D311E probably benign Het
Or13p4 C T 4: 118,547,229 (GRCm39) S140N probably benign Het
Or4a80 T A 2: 89,582,599 (GRCm39) Y191F probably benign Het
Or4k45 T A 2: 111,395,324 (GRCm39) H155L probably damaging Het
Or51aa2 A T 7: 103,187,479 (GRCm39) S321T probably benign Het
Or52n20 G T 7: 104,320,022 (GRCm39) V38L probably benign Het
Or5w10 T A 2: 87,375,114 (GRCm39) Y258F probably damaging Het
Pcnt C T 10: 76,239,457 (GRCm39) probably null Het
Pdcd7 T C 9: 65,254,039 (GRCm39) S206P probably benign Het
Pdia4 A T 6: 47,773,575 (GRCm39) Y591* probably null Het
Pgap6 G T 17: 26,340,931 (GRCm39) R678L probably damaging Het
Plxna4 C T 6: 32,192,647 (GRCm39) M771I probably benign Het
Pramel47 C T 5: 95,488,092 (GRCm39) H9Y possibly damaging Het
Ptpn13 A G 5: 103,712,031 (GRCm39) Y1643C probably damaging Het
Ptpn13 A G 5: 103,717,671 (GRCm39) I1906V probably benign Het
Rab33b T A 3: 51,391,795 (GRCm39) S15T probably benign Het
Rasip1 A T 7: 45,284,467 (GRCm39) M644L possibly damaging Het
Rnf4 G A 5: 34,506,035 (GRCm39) C55Y probably damaging Het
Sel1l A T 12: 91,780,735 (GRCm39) Y585* probably null Het
Slc40a1 A T 1: 45,950,576 (GRCm39) F292Y probably damaging Het
Smarca4 G A 9: 21,570,144 (GRCm39) D716N probably damaging Het
Sp7 T A 15: 102,266,837 (GRCm39) H323L possibly damaging Het
Speer1m T C 5: 11,971,489 (GRCm39) L147P probably damaging Het
Sprtn A G 8: 125,629,933 (GRCm39) S409G probably benign Het
St3gal2 T G 8: 111,688,853 (GRCm39) L131R probably damaging Het
Tctn1 A G 5: 122,399,552 (GRCm39) C91R probably damaging Het
Tgm1 A T 14: 55,937,754 (GRCm39) V785E probably damaging Het
Topaz1 G T 9: 122,579,573 (GRCm39) V828L probably benign Het
Triobp C T 15: 78,878,326 (GRCm39) H1750Y possibly damaging Het
Ttc27 G A 17: 75,050,047 (GRCm39) probably null Het
Usp2 G A 9: 43,987,350 (GRCm39) G216D possibly damaging Het
Vmn2r99 A G 17: 19,614,020 (GRCm39) D580G probably benign Het
Wbp1l G A 19: 46,640,988 (GRCm39) R106H possibly damaging Het
Zmym2 G T 14: 57,151,606 (GRCm39) C497F probably damaging Het
Other mutations in Atg16l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Atg16l1 APN 1 87,693,119 (GRCm39) missense possibly damaging 0.68
IGL00861:Atg16l1 APN 1 87,702,560 (GRCm39) missense probably damaging 1.00
IGL01065:Atg16l1 APN 1 87,713,653 (GRCm39) missense probably damaging 0.99
IGL01068:Atg16l1 APN 1 87,702,546 (GRCm39) missense probably damaging 1.00
IGL01140:Atg16l1 APN 1 87,702,575 (GRCm39) missense probably benign 0.03
R0023:Atg16l1 UTSW 1 87,717,187 (GRCm39) missense probably benign 0.00
R0023:Atg16l1 UTSW 1 87,717,187 (GRCm39) missense probably benign 0.00
R0650:Atg16l1 UTSW 1 87,709,421 (GRCm39) missense possibly damaging 0.93
R0655:Atg16l1 UTSW 1 87,694,551 (GRCm39) missense probably damaging 1.00
R1421:Atg16l1 UTSW 1 87,714,080 (GRCm39) splice site probably benign
R1549:Atg16l1 UTSW 1 87,701,910 (GRCm39) missense probably benign
R2202:Atg16l1 UTSW 1 87,694,737 (GRCm39) missense probably benign 0.03
R2204:Atg16l1 UTSW 1 87,694,737 (GRCm39) missense probably benign 0.03
R3689:Atg16l1 UTSW 1 87,713,626 (GRCm39) missense probably damaging 1.00
R4012:Atg16l1 UTSW 1 87,694,629 (GRCm39) missense probably damaging 1.00
R4391:Atg16l1 UTSW 1 87,687,842 (GRCm39) missense probably damaging 0.97
R4839:Atg16l1 UTSW 1 87,693,896 (GRCm39) missense probably damaging 0.99
R4935:Atg16l1 UTSW 1 87,694,764 (GRCm39) missense possibly damaging 0.69
R4980:Atg16l1 UTSW 1 87,694,553 (GRCm39) missense possibly damaging 0.89
R4990:Atg16l1 UTSW 1 87,717,091 (GRCm39) missense probably benign 0.00
R5011:Atg16l1 UTSW 1 87,701,902 (GRCm39) nonsense probably null
R5457:Atg16l1 UTSW 1 87,702,813 (GRCm39) missense probably damaging 0.96
R5897:Atg16l1 UTSW 1 87,713,719 (GRCm39) critical splice donor site probably null
R6289:Atg16l1 UTSW 1 87,683,937 (GRCm39) missense probably damaging 0.99
R6437:Atg16l1 UTSW 1 87,718,370 (GRCm39) missense probably damaging 1.00
R6727:Atg16l1 UTSW 1 87,702,576 (GRCm39) missense possibly damaging 0.68
R6923:Atg16l1 UTSW 1 87,702,078 (GRCm39) splice site probably null
R7423:Atg16l1 UTSW 1 87,714,023 (GRCm39) missense probably damaging 1.00
R7475:Atg16l1 UTSW 1 87,687,805 (GRCm39) missense possibly damaging 0.89
R8742:Atg16l1 UTSW 1 87,694,620 (GRCm39) missense probably damaging 1.00
R8782:Atg16l1 UTSW 1 87,714,010 (GRCm39) missense possibly damaging 0.76
R9035:Atg16l1 UTSW 1 87,693,167 (GRCm39) critical splice donor site probably null
R9071:Atg16l1 UTSW 1 87,683,907 (GRCm39) intron probably benign
R9282:Atg16l1 UTSW 1 87,707,906 (GRCm39) missense possibly damaging 0.70
R9706:Atg16l1 UTSW 1 87,713,977 (GRCm39) missense possibly damaging 0.64
Predicted Primers PCR Primer
(F):5'- TTTGGGTGCAGAGTCCACTC -3'
(R):5'- ATGCTGCACTTCAAGTCATGTG -3'

Sequencing Primer
(F):5'- AGAGTCCACTCAGAGCTCGTAG -3'
(R):5'- AAGTCATGTGATCTCAACTAGTCCC -3'
Posted On 2021-01-18