Incidental Mutation 'IGL01644:Atg16l2'
| ID |
102589 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atg16l2
|
| Ensembl Gene |
ENSMUSG00000047767 |
| Gene Name |
autophagy related 16 like 2 |
| Synonyms |
2410118P20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01644
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
100935521-100951474 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 100946424 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
Q6KAU8 |
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000153327
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209093
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207121
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146445
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Crb1 |
T |
A |
1: 139,165,368 (GRCm39) |
R919* |
probably null |
Het |
| Csf1 |
T |
C |
3: 107,661,158 (GRCm39) |
T120A |
possibly damaging |
Het |
| Defa29 |
A |
T |
8: 21,816,137 (GRCm39) |
C77S |
possibly damaging |
Het |
| Defb7 |
A |
T |
8: 19,547,717 (GRCm39) |
|
probably benign |
Het |
| Ece2 |
T |
C |
16: 20,436,616 (GRCm39) |
V146A |
possibly damaging |
Het |
| Efcab6 |
T |
A |
15: 83,917,273 (GRCm39) |
S96C |
probably damaging |
Het |
| Gm7729 |
T |
C |
18: 27,731,872 (GRCm39) |
|
noncoding transcript |
Het |
| Hapln2 |
G |
T |
3: 87,929,944 (GRCm39) |
R311S |
probably damaging |
Het |
| Impg2 |
C |
T |
16: 56,080,233 (GRCm39) |
P679L |
probably benign |
Het |
| Kansl1l |
A |
G |
1: 66,840,475 (GRCm39) |
I275T |
probably benign |
Het |
| Med29 |
A |
G |
7: 28,090,272 (GRCm39) |
F108L |
probably damaging |
Het |
| Nrxn1 |
C |
T |
17: 90,928,301 (GRCm39) |
C789Y |
possibly damaging |
Het |
| Or10w1 |
A |
T |
19: 13,632,768 (GRCm39) |
|
probably benign |
Het |
| Or4c123 |
T |
C |
2: 89,126,976 (GRCm39) |
I213V |
probably benign |
Het |
| Palld |
T |
C |
8: 62,330,512 (GRCm39) |
K122E |
probably benign |
Het |
| Ppl |
A |
T |
16: 4,909,719 (GRCm39) |
L864H |
probably damaging |
Het |
| Ptov1 |
C |
A |
7: 44,516,926 (GRCm39) |
E37* |
probably null |
Het |
| Sspo |
T |
C |
6: 48,429,436 (GRCm39) |
V482A |
probably benign |
Het |
| St7l |
C |
T |
3: 104,826,772 (GRCm39) |
R377* |
probably null |
Het |
| Ttn |
G |
T |
2: 76,585,727 (GRCm39) |
P13643T |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,836,794 (GRCm39) |
T2917S |
probably benign |
Het |
|
| Other mutations in Atg16l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00327:Atg16l2
|
APN |
7 |
100,949,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00402:Atg16l2
|
APN |
7 |
100,945,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00662:Atg16l2
|
APN |
7 |
100,939,103 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00905:Atg16l2
|
APN |
7 |
100,949,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02839:Atg16l2
|
APN |
7 |
100,942,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0316:Atg16l2
|
UTSW |
7 |
100,942,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0638:Atg16l2
|
UTSW |
7 |
100,949,317 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0683:Atg16l2
|
UTSW |
7 |
100,939,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1436:Atg16l2
|
UTSW |
7 |
100,940,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1592:Atg16l2
|
UTSW |
7 |
100,941,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1623:Atg16l2
|
UTSW |
7 |
100,939,113 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2002:Atg16l2
|
UTSW |
7 |
100,944,127 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2090:Atg16l2
|
UTSW |
7 |
100,942,575 (GRCm39) |
splice site |
probably null |
|
|
R2103:Atg16l2
|
UTSW |
7 |
100,939,568 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2349:Atg16l2
|
UTSW |
7 |
100,945,746 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4738:Atg16l2
|
UTSW |
7 |
100,946,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4739:Atg16l2
|
UTSW |
7 |
100,946,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4740:Atg16l2
|
UTSW |
7 |
100,946,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5704:Atg16l2
|
UTSW |
7 |
100,949,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6243:Atg16l2
|
UTSW |
7 |
100,941,536 (GRCm39) |
makesense |
probably null |
|
|
R6257:Atg16l2
|
UTSW |
7 |
100,951,102 (GRCm39) |
splice site |
probably null |
|
|
R6613:Atg16l2
|
UTSW |
7 |
100,939,788 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7331:Atg16l2
|
UTSW |
7 |
100,948,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7349:Atg16l2
|
UTSW |
7 |
100,939,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7719:Atg16l2
|
UTSW |
7 |
100,939,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8186:Atg16l2
|
UTSW |
7 |
100,945,714 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8500:Atg16l2
|
UTSW |
7 |
100,939,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8557:Atg16l2
|
UTSW |
7 |
100,939,863 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9061:Atg16l2
|
UTSW |
7 |
100,941,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9225:Atg16l2
|
UTSW |
7 |
100,951,188 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9561:Atg16l2
|
UTSW |
7 |
100,948,248 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation