Incidental Mutation 'IGL02839:Atg16l2'
| ID |
361794 |
| 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 # |
IGL02839
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
100935521-100951474 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100942604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 364
(I364V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117029
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120267]
[ENSMUST00000122116]
[ENSMUST00000139609]
[ENSMUST00000143630]
[ENSMUST00000207740]
[ENSMUST00000140553]
|
| AlphaFold |
Q6KAU8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120267
AA Change: I364V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112500
Gene: ENSMUSG00000047767
AA Change: I364V
| 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 damaging
Transcript: ENSMUST00000122116
AA Change: I343V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113320
Gene: ENSMUSG00000047767
AA Change: I343V
| 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 |
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 damaging
Transcript: ENSMUST00000139609
AA Change: I364V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117387
Gene: ENSMUSG00000047767
AA Change: I364V
| 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 |
probably damaging
Transcript: ENSMUST00000143630
AA Change: I364V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117029
Gene: ENSMUSG00000047767
AA Change: I364V
| 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 |
probably benign
Transcript: ENSMUST00000207740
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146445
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153327
|
| 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 benign
Transcript: ENSMUST00000140553
|
| SMART Domains |
Protein: ENSMUSP00000116414
Gene: ENSMUSG00000047767
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
T |
C |
4: 128,653,816 (GRCm39) |
|
probably null |
Het |
| Aldh1l1 |
T |
C |
6: 90,546,857 (GRCm39) |
F387L |
possibly damaging |
Het |
| Aldh5a1 |
A |
G |
13: 25,095,603 (GRCm39) |
S505P |
probably damaging |
Het |
| Aox1 |
A |
G |
1: 58,107,943 (GRCm39) |
T642A |
probably benign |
Het |
| Atp2c2 |
T |
C |
8: 120,475,859 (GRCm39) |
V584A |
possibly damaging |
Het |
| Axl |
A |
T |
7: 25,466,216 (GRCm39) |
|
probably null |
Het |
| Camta1 |
T |
C |
4: 151,228,969 (GRCm39) |
Q621R |
probably damaging |
Het |
| Cdca4 |
A |
T |
12: 112,785,511 (GRCm39) |
D72E |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,538,748 (GRCm39) |
Y1223N |
unknown |
Het |
| Drc1 |
T |
C |
5: 30,507,767 (GRCm39) |
M263T |
probably benign |
Het |
| Eef1akmt1 |
A |
T |
14: 57,787,238 (GRCm39) |
Y213N |
probably damaging |
Het |
| Fat3 |
C |
A |
9: 15,830,466 (GRCm39) |
D4343Y |
probably damaging |
Het |
| Ftdc1 |
A |
G |
16: 58,436,210 (GRCm39) |
Y38H |
probably damaging |
Het |
| Gucy2d |
T |
C |
7: 98,093,196 (GRCm39) |
V191A |
possibly damaging |
Het |
| Hdac5 |
A |
G |
11: 102,095,734 (GRCm39) |
L355P |
probably damaging |
Het |
| Hdgfl3 |
C |
T |
7: 81,550,160 (GRCm39) |
G58D |
probably damaging |
Het |
| Hnrnpul1 |
A |
G |
7: 25,432,667 (GRCm39) |
|
probably null |
Het |
| Klf12 |
A |
T |
14: 100,137,675 (GRCm39) |
C290* |
probably null |
Het |
| Mtmr3 |
A |
T |
11: 4,437,994 (GRCm39) |
I820N |
probably benign |
Het |
| Myo7a |
A |
T |
7: 97,740,329 (GRCm39) |
L555Q |
probably damaging |
Het |
| Nrsn1 |
A |
G |
13: 25,437,527 (GRCm39) |
C134R |
probably damaging |
Het |
| Or13c7d |
T |
A |
4: 43,770,943 (GRCm39) |
K23* |
probably null |
Het |
| Or1p1 |
T |
A |
11: 74,180,196 (GRCm39) |
C241* |
probably null |
Het |
| Or4c11c |
G |
A |
2: 88,661,992 (GRCm39) |
C177Y |
probably damaging |
Het |
| Or56a3b |
A |
C |
7: 104,771,563 (GRCm39) |
T300P |
probably damaging |
Het |
| Or5ac24 |
A |
T |
16: 59,165,753 (GRCm39) |
C104S |
probably benign |
Het |
| Or5t9 |
T |
A |
2: 86,659,712 (GRCm39) |
N205K |
probably benign |
Het |
| Pik3r6 |
A |
G |
11: 68,417,238 (GRCm39) |
E60G |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,392,939 (GRCm39) |
I1758N |
probably damaging |
Het |
| Poc1b |
A |
G |
10: 98,980,460 (GRCm39) |
|
probably benign |
Het |
| Rnf103 |
G |
T |
6: 71,486,689 (GRCm39) |
R440L |
probably benign |
Het |
| Siglec1 |
A |
G |
2: 130,926,852 (GRCm39) |
V237A |
possibly damaging |
Het |
| Skic2 |
T |
C |
17: 35,066,774 (GRCm39) |
T165A |
probably benign |
Het |
| Slit3 |
A |
G |
11: 35,539,874 (GRCm39) |
N762S |
possibly damaging |
Het |
| Trank1 |
A |
G |
9: 111,193,824 (GRCm39) |
N616S |
probably damaging |
Het |
| Trav14d-3-dv8 |
C |
A |
14: 53,316,247 (GRCm39) |
Q36K |
possibly damaging |
Het |
| Ttll6 |
T |
C |
11: 96,049,646 (GRCm39) |
V788A |
probably damaging |
Het |
| Ube4b |
A |
T |
4: 149,452,856 (GRCm39) |
S357T |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,710,834 (GRCm39) |
H2701R |
possibly damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,116,786 (GRCm39) |
S85P |
probably damaging |
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 |
|
IGL01644:Atg16l2
|
APN |
7 |
100,946,424 (GRCm39) |
makesense |
probably null |
|
|
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 |
2015-12-18 |
Incidental Mutation