Incidental Mutation 'R0683:Atg16l2'
| ID |
61049 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg16l2
|
| Ensembl Gene |
ENSMUSG00000047767 |
| Gene Name |
autophagy related 16 like 2 |
| Synonyms |
2410118P20Rik |
| MMRRC Submission |
038868-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0683 (G1)
|
| Quality Score |
131 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
100935521-100951474 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100939591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 533
(D533G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120267]
[ENSMUST00000122116]
[ENSMUST00000139609]
[ENSMUST00000207740]
[ENSMUST00000143630]
|
| AlphaFold |
Q6KAU8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120267
AA Change: D554G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112500
Gene: ENSMUSG00000047767
AA Change: D554G
| 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: D533G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113320
Gene: ENSMUSG00000047767
AA Change: D533G
| 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 |
unknown
Transcript: ENSMUST00000207740
AA Change: T20A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153327
|
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.5%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahdc1 |
T |
C |
4: 132,792,827 (GRCm39) |
F1356S |
possibly damaging |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Eif3i |
G |
T |
4: 129,487,328 (GRCm39) |
N162K |
probably benign |
Het |
| Exoc8 |
A |
G |
8: 125,622,372 (GRCm39) |
I665T |
probably damaging |
Het |
| Ggt7 |
A |
G |
2: 155,348,428 (GRCm39) |
S75P |
probably benign |
Het |
| Gjd3 |
A |
T |
11: 102,691,237 (GRCm39) |
F255L |
probably benign |
Het |
| Krt1 |
A |
G |
15: 101,758,901 (GRCm39) |
F88L |
unknown |
Het |
| Maml3 |
G |
A |
3: 51,764,173 (GRCm39) |
Q264* |
probably null |
Het |
| Ncoa4-ps |
T |
C |
12: 119,224,813 (GRCm39) |
|
noncoding transcript |
Het |
| Neu1 |
A |
T |
17: 35,153,301 (GRCm39) |
|
probably null |
Het |
| Nrp2 |
A |
G |
1: 62,783,477 (GRCm39) |
T193A |
probably benign |
Het |
| Or4c12b |
C |
G |
2: 89,647,522 (GRCm39) |
P278R |
probably damaging |
Het |
| P4ha1 |
A |
G |
10: 59,172,969 (GRCm39) |
T23A |
probably benign |
Het |
| Pgm1 |
A |
G |
4: 99,818,740 (GRCm39) |
I112V |
probably damaging |
Het |
| Ptprs |
A |
T |
17: 56,721,086 (GRCm39) |
V1385D |
probably damaging |
Het |
| Rasal2 |
A |
G |
1: 157,006,779 (GRCm39) |
S111P |
probably damaging |
Het |
| Serpinb13 |
A |
G |
1: 106,926,751 (GRCm39) |
N249S |
probably damaging |
Het |
| Sh3pxd2a |
T |
C |
19: 47,255,950 (GRCm39) |
T923A |
probably benign |
Het |
| Speg |
G |
A |
1: 75,405,762 (GRCm39) |
A2989T |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Tcp11l1 |
A |
T |
2: 104,512,237 (GRCm39) |
V465E |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,768,653 (GRCm39) |
T2973I |
unknown |
Het |
| Vav3 |
C |
A |
3: 109,559,129 (GRCm39) |
Q110K |
probably benign |
Het |
| Xcr1 |
T |
C |
9: 123,684,940 (GRCm39) |
D274G |
probably benign |
Het |
| Zfp763 |
G |
A |
17: 33,237,892 (GRCm39) |
P418S |
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 |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTTCCCGGTGTTCACATCCCAG -3'
(R):5'- TGCGAATCAGCAATATCCGACAGG -3'
Sequencing Primer
(F):5'- GTGTTCACATCCCAGATGTACAG -3'
(R):5'- TCAGCAATATCCGACAGGTGTTC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation