Incidental Mutation 'IGL00662:Atg16l2'
| ID |
9114 |
| 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 # |
IGL00662
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
100935521-100951474 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100939103 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 587
(N587S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120267]
[ENSMUST00000122116]
[ENSMUST00000139609]
[ENSMUST00000207740]
[ENSMUST00000143630]
|
| AlphaFold |
Q6KAU8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120267
AA Change: N608S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000112500
Gene: ENSMUSG00000047767
AA Change: N608S
| 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 |
probably benign
Transcript: ENSMUST00000122116
AA Change: N587S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000113320
Gene: ENSMUSG00000047767
AA Change: N587S
| 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: ENSMUST00000123970
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124617
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131988
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134531
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139609
|
| SMART Domains |
Protein: ENSMUSP00000117387
Gene: ENSMUSG00000047767
| 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 |
probably benign
Transcript: ENSMUST00000207740
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146445
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143630
|
| SMART Domains |
Protein: ENSMUSP00000117029
Gene: ENSMUSG00000047767
| 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 |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcar3 |
C |
T |
3: 122,306,585 (GRCm39) |
A186V |
probably benign |
Het |
| Bcr |
A |
T |
10: 75,003,932 (GRCm39) |
|
probably benign |
Het |
| Cd207 |
A |
G |
6: 83,652,908 (GRCm39) |
I74T |
possibly damaging |
Het |
| Cenpn |
T |
C |
8: 117,655,326 (GRCm39) |
|
probably null |
Het |
| Chuk |
A |
T |
19: 44,085,649 (GRCm39) |
F228I |
possibly damaging |
Het |
| Cmss1 |
T |
C |
16: 57,124,092 (GRCm39) |
D233G |
probably damaging |
Het |
| Copg1 |
C |
T |
6: 87,879,352 (GRCm39) |
T466I |
possibly damaging |
Het |
| Ctsll3 |
A |
G |
13: 60,946,756 (GRCm39) |
S288P |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,907,723 (GRCm39) |
I2760F |
possibly damaging |
Het |
| Gpi1 |
A |
G |
7: 33,915,375 (GRCm39) |
|
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,581,081 (GRCm39) |
R318C |
probably benign |
Het |
| Kcnk9 |
A |
G |
15: 72,417,924 (GRCm39) |
S69P |
probably benign |
Het |
| Kctd18 |
T |
C |
1: 57,995,897 (GRCm39) |
T127A |
probably damaging |
Het |
| Khk |
T |
C |
5: 31,087,019 (GRCm39) |
|
probably benign |
Het |
| Ncapg |
T |
A |
5: 45,850,502 (GRCm39) |
S703T |
possibly damaging |
Het |
| Nup98 |
T |
A |
7: 101,844,194 (GRCm39) |
N47I |
probably damaging |
Het |
| Rad1 |
A |
G |
15: 10,490,495 (GRCm39) |
N154S |
probably benign |
Het |
| Rigi |
A |
G |
4: 40,220,389 (GRCm39) |
|
probably benign |
Het |
| Slc35f5 |
T |
A |
1: 125,515,161 (GRCm39) |
L438H |
probably damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,358,659 (GRCm39) |
Y334C |
possibly damaging |
Het |
| Spata17 |
T |
C |
1: 186,849,536 (GRCm39) |
N124S |
probably benign |
Het |
| Tfap2c |
T |
C |
2: 172,393,438 (GRCm39) |
Y118H |
probably damaging |
Het |
| Tnpo3 |
A |
T |
6: 29,565,845 (GRCm39) |
L503* |
probably null |
Het |
| Utrn |
C |
T |
10: 12,540,705 (GRCm39) |
E1907K |
probably damaging |
Het |
| Vav3 |
T |
A |
3: 109,435,708 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
T |
A |
19: 16,681,904 (GRCm39) |
K1033I |
probably damaging |
Het |
| Zfp202 |
A |
G |
9: 40,122,339 (GRCm39) |
N367S |
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 |
|
IGL00905:Atg16l2
|
APN |
7 |
100,949,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01644:Atg16l2
|
APN |
7 |
100,946,424 (GRCm39) |
makesense |
probably null |
|
|
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 |
2012-12-06 |
Incidental Mutation