Incidental Mutation 'R5457:Atg16l1'
| ID |
432781 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg16l1
|
| Ensembl Gene |
ENSMUSG00000026289 |
| Gene Name |
autophagy related 16 like 1 |
| Synonyms |
WDR30, APG16L, 1500009K01Rik |
| MMRRC Submission |
043020-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5457 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
87683730-87720150 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87702813 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 288
(S288P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027512]
[ENSMUST00000113186]
[ENSMUST00000113190]
[ENSMUST00000144047]
|
| AlphaFold |
Q8C0J2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027512
|
| SMART Domains |
Protein: ENSMUSP00000027512
Gene: ENSMUSG00000026289
| 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: S288P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108815
Gene: ENSMUSG00000026289
AA Change: S288P
| 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 |
noncoding transcript
Transcript: ENSMUST00000151037
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157343
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
C |
A |
8: 87,236,473 (GRCm39) |
V1114L |
probably benign |
Het |
| Actr5 |
G |
A |
2: 158,477,918 (GRCm39) |
|
probably null |
Het |
| Adcy7 |
T |
C |
8: 89,037,649 (GRCm39) |
L239P |
probably damaging |
Het |
| Afg3l1 |
T |
A |
8: 124,216,707 (GRCm39) |
F315L |
possibly damaging |
Het |
| Agps |
A |
G |
2: 75,684,596 (GRCm39) |
Y188C |
probably benign |
Het |
| Akt1 |
T |
C |
12: 112,623,525 (GRCm39) |
T312A |
probably damaging |
Het |
| Ang2 |
T |
C |
14: 51,433,292 (GRCm39) |
Y30C |
probably damaging |
Het |
| Angpt1 |
G |
A |
15: 42,386,916 (GRCm39) |
T146I |
probably damaging |
Het |
| Atp1b2 |
C |
T |
11: 69,493,558 (GRCm39) |
G4R |
probably damaging |
Het |
| Best3 |
T |
C |
10: 116,840,416 (GRCm39) |
F282S |
probably damaging |
Het |
| Cdkn2b |
A |
G |
4: 89,225,391 (GRCm39) |
L98P |
probably damaging |
Het |
| Cenps |
A |
G |
4: 149,216,094 (GRCm39) |
|
probably null |
Het |
| Clec16a |
G |
T |
16: 10,363,396 (GRCm39) |
|
probably null |
Het |
| Cxcl13 |
A |
T |
5: 96,104,830 (GRCm39) |
M1L |
unknown |
Het |
| Dcun1d4 |
A |
T |
5: 73,688,908 (GRCm39) |
E149D |
probably damaging |
Het |
| Dlst |
G |
A |
12: 85,168,914 (GRCm39) |
|
probably null |
Het |
| Dock10 |
C |
A |
1: 80,501,781 (GRCm39) |
C1803F |
probably damaging |
Het |
| Dpp10 |
T |
A |
1: 123,339,539 (GRCm39) |
K329N |
possibly damaging |
Het |
| Drosha |
T |
G |
15: 12,926,115 (GRCm39) |
Y1235D |
probably benign |
Het |
| Eif2s3y |
G |
A |
Y: 1,016,057 (GRCm39) |
G213D |
probably damaging |
Homo |
| Eps8 |
A |
T |
6: 137,489,175 (GRCm39) |
S408T |
probably damaging |
Het |
| Fam171a2 |
T |
C |
11: 102,328,362 (GRCm39) |
D799G |
possibly damaging |
Het |
| Fcho2 |
T |
C |
13: 98,926,275 (GRCm39) |
K103E |
probably damaging |
Het |
| Fcrlb |
T |
C |
1: 170,739,726 (GRCm39) |
T59A |
probably damaging |
Het |
| Fgd4 |
T |
C |
16: 16,279,873 (GRCm39) |
R395G |
probably benign |
Het |
| Gm14496 |
A |
T |
2: 181,639,401 (GRCm39) |
D497V |
probably damaging |
Het |
| Gpt2 |
A |
C |
8: 86,238,967 (GRCm39) |
N267H |
possibly damaging |
Het |
| Grb14 |
A |
T |
2: 64,747,442 (GRCm39) |
C43S |
probably damaging |
Het |
| Hjurp |
T |
TN |
1: 88,194,247 (GRCm39) |
|
probably null |
Het |
| Igkv8-16 |
A |
G |
6: 70,363,689 (GRCm39) |
V111A |
possibly damaging |
Het |
| Klra2 |
T |
A |
6: 131,198,852 (GRCm39) |
S230C |
possibly damaging |
Het |
| Lamb3 |
G |
A |
1: 193,008,302 (GRCm39) |
R245H |
probably damaging |
Het |
| Lamc3 |
A |
G |
2: 31,821,997 (GRCm39) |
E1315G |
probably benign |
Het |
| Lpin2 |
A |
G |
17: 71,550,367 (GRCm39) |
T672A |
probably damaging |
Het |
| Mcoln3 |
T |
A |
3: 145,833,877 (GRCm39) |
I139N |
probably benign |
Het |
| Mcpt8 |
C |
T |
14: 56,319,793 (GRCm39) |
C219Y |
probably benign |
Het |
| Mtcl3 |
A |
C |
10: 29,072,720 (GRCm39) |
I671L |
probably benign |
Het |
| Mug2 |
G |
T |
6: 122,026,688 (GRCm39) |
G541* |
probably null |
Het |
| Myo7b |
G |
T |
18: 32,104,503 (GRCm39) |
|
probably null |
Het |
| Or10j2 |
C |
T |
1: 173,098,141 (GRCm39) |
S133L |
probably benign |
Het |
| Or10j7 |
A |
G |
1: 173,011,180 (GRCm39) |
S274P |
probably damaging |
Het |
| Or5ac22 |
T |
C |
16: 59,135,213 (GRCm39) |
I186V |
probably benign |
Het |
| Or5k8 |
A |
T |
16: 58,644,796 (GRCm39) |
I92N |
probably damaging |
Het |
| Or7e176 |
A |
T |
9: 20,171,574 (GRCm39) |
Y146F |
probably damaging |
Het |
| Pclo |
C |
T |
5: 14,726,157 (GRCm39) |
|
probably benign |
Het |
| Pdk2 |
C |
T |
11: 94,919,408 (GRCm39) |
S289N |
probably damaging |
Het |
| Pex19 |
G |
T |
1: 171,958,245 (GRCm39) |
G75W |
probably damaging |
Het |
| Psma3 |
T |
G |
12: 71,031,339 (GRCm39) |
S26A |
probably benign |
Het |
| Pth1r |
A |
T |
9: 110,555,522 (GRCm39) |
I326N |
possibly damaging |
Het |
| Sbf2 |
T |
C |
7: 109,912,037 (GRCm39) |
T1670A |
probably benign |
Het |
| Scn10a |
A |
G |
9: 119,523,193 (GRCm39) |
Y67H |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,330,280 (GRCm39) |
D578E |
probably benign |
Het |
| Spta1 |
C |
T |
1: 174,044,759 (GRCm39) |
A1465V |
probably damaging |
Het |
| Taar9 |
A |
G |
10: 23,985,003 (GRCm39) |
F144L |
probably damaging |
Het |
| Tal1 |
T |
C |
4: 114,925,777 (GRCm39) |
V282A |
probably benign |
Het |
| Tbrg4 |
C |
T |
11: 6,570,947 (GRCm39) |
R175Q |
probably damaging |
Het |
| Tdp1 |
C |
T |
12: 99,861,005 (GRCm39) |
Q215* |
probably null |
Het |
| Thsd4 |
A |
T |
9: 59,887,060 (GRCm39) |
W921R |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,786,787 (GRCm39) |
E3462G |
probably damaging |
Het |
| Try4 |
T |
C |
6: 41,280,355 (GRCm39) |
S60P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,541,265 (GRCm39) |
E25580G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,776,299 (GRCm39) |
I1581N |
possibly damaging |
Het |
| Vmn2r50 |
T |
C |
7: 9,781,873 (GRCm39) |
T291A |
probably damaging |
Het |
| Zkscan14 |
T |
C |
5: 145,138,169 (GRCm39) |
D106G |
probably benign |
Het |
|
| Other mutations in Atg16l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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 |
|
R8493:Atg16l1
|
UTSW |
1 |
87,706,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ATCTTTGGGTAGGTTAGAAGACC -3'
(R):5'- AGCATTCATTCCTAGGAGCATG -3'
Sequencing Primer
(F):5'- GGTTAGAAGACCTTCACCTTTCC -3'
(R):5'- GCATTCATTCCTAGGAGCATGCAAAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation