Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01068:Atg16l1'

50191

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atg16l1

Ensembl Gene

ENSMUSG00000026289

Gene Name

autophagy related 16-like 1 (S. cerevisiae)

Synonyms

1500009K01Rik, APG16L, WDR30

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01068

Quality Score

Status

Chromosome

Chromosomal Location

87755870-87792428 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87774824 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 269 (S269L)

Ref Sequence

ENSEMBL: ENSMUSP00000108815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027512] [ENSMUST00000113186] [ENSMUST00000113190] [ENSMUST00000144047]

AlphaFold

Q8C0J2

Predicted Effect

probably damaging
Transcript: ENSMUST00000027512
AA Change: S269L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027512
Gene: ENSMUSG00000026289
AA Change: S269L

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000113186

SMART Domains

Protein: ENSMUSP00000108811
Gene: ENSMUSG00000026289

Domain	Start	End	E-Value	Type
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: S269L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108815
Gene: ENSMUSG00000026289
AA Change: S269L

Domain	Start	End	E-Value	Type
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: ENSMUST00000127884

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129431

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137638

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139628

Predicted Effect

probably benign
Transcript: ENSMUST00000144047

SMART Domains

Protein: ENSMUSP00000120955
Gene: ENSMUSG00000026289

Domain	Start	End	E-Value	Type
Pfam:ATG16	1	145	2.9e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151037

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157343

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	C	7: 43,504,175		probably benign	Het
Adgra1	A	G	7: 139,845,625	E18G	probably damaging	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Atp8a1	A	G	5: 67,667,337	V853A	probably benign	Het
Bicral	T	C	17: 46,825,391	I298V	probably damaging	Het
Cad	A	G	5: 31,061,770		probably benign	Het
Chd9	A	T	8: 91,042,116	Y2448F	probably benign	Het
Clstn3	A	G	6: 124,462,139	L16S	probably damaging	Het
Cmtr2	G	A	8: 110,222,869	V604M	possibly damaging	Het
Ctcf	A	T	8: 105,681,485		probably benign	Het
Eif2ak2	A	G	17: 78,865,371	I295T	probably damaging	Het
Foxm1	G	A	6: 128,370,967	R284H	possibly damaging	Het
Gabra2	T	C	5: 70,962,072	I362M	probably benign	Het
Hivep1	C	A	13: 42,159,984	P1900Q	probably benign	Het
Klhl25	G	T	7: 75,866,149	E268*	probably null	Het
Klk1b16	T	C	7: 44,140,678	L124P	probably damaging	Het
Ltf	A	T	9: 111,035,812		probably null	Het
Mpped2	T	A	2: 106,864,746	H248Q	probably damaging	Het
Mrpl1	T	A	5: 96,224,036		probably benign	Het
Mthfd1l	T	A	10: 4,028,428	S429R	probably damaging	Het
Myl2	G	A	5: 122,106,704	V146I	probably benign	Het
Myo10	T	A	15: 25,739,309	I527N	possibly damaging	Het
Ncoa3	T	C	2: 166,052,795	S333P	probably damaging	Het
Olfr1297	T	G	2: 111,621,340	T245P	probably damaging	Het
Olfr350	T	G	2: 36,850,270	S75A	probably damaging	Het
Oxct1	T	C	15: 4,053,764	F155S	probably damaging	Het
P4ha1	T	C	10: 59,339,335	V39A	probably damaging	Het
Padi6	G	T	4: 140,730,953	T514N	possibly damaging	Het
Pgm1	G	A	5: 64,107,796	V387I	probably damaging	Het
Ppt1	G	A	4: 122,844,007	C46Y	probably damaging	Het
Rnf225	T	C	7: 12,928,900		probably benign	Het
Rpl26	T	C	11: 68,902,398	Y42H	probably benign	Het
Rundc1	A	G	11: 101,434,142	N558S	probably damaging	Het
Sema3e	T	G	5: 14,233,718		probably null	Het
Slc8a1	T	C	17: 81,388,942	I888V	probably benign	Het
Thsd7b	T	C	1: 129,596,146	C306R	probably damaging	Het
Tmem209	A	C	6: 30,502,086	L197R	probably benign	Het
Tmem38b	T	G	4: 53,849,024	V119G	probably damaging	Het
Trpc1	T	C	9: 95,726,494	D82G	probably damaging	Het
Zfp292	A	G	4: 34,806,763	F2094L	probably damaging	Het
Zfp638	C	T	6: 83,934,994	R453W	probably damaging	Het

Other mutations in Atg16l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Atg16l1	APN	1	87765397	missense	possibly damaging	0.68
IGL00861:Atg16l1	APN	1	87774838	missense	probably damaging	1.00
IGL01065:Atg16l1	APN	1	87785931	missense	probably damaging	0.99
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	splice site	probably null
R7423:Atg16l1	UTSW	1	87786301	missense	probably damaging	1.00
R7475:Atg16l1	UTSW	1	87760083	missense	possibly damaging	0.89
R8493:Atg16l1	UTSW	1	87778982	missense	probably damaging	1.00
R8742:Atg16l1	UTSW	1	87766898	missense	probably damaging	1.00
R8782:Atg16l1	UTSW	1	87786288	missense	possibly damaging	0.76
R9035:Atg16l1	UTSW	1	87765445	critical splice donor site	probably null
R9071:Atg16l1	UTSW	1	87756185	intron	probably benign
R9282:Atg16l1	UTSW	1	87780184	missense	possibly damaging	0.70
R9706:Atg16l1	UTSW	1	87786255	missense	possibly damaging	0.64

Posted On

2013-06-21