Incidental Mutation 'R0638:Atg16l2'
| ID |
56815 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg16l2
|
| Ensembl Gene |
ENSMUSG00000047767 |
| Gene Name |
autophagy related 16 like 2 |
| Synonyms |
2410118P20Rik |
| MMRRC Submission |
038827-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0638 (G1)
|
| Quality Score |
128 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
100935521-100951474 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 100949317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120267]
[ENSMUST00000120267]
[ENSMUST00000122116]
[ENSMUST00000122116]
[ENSMUST00000139609]
[ENSMUST00000139609]
[ENSMUST00000140553]
[ENSMUST00000140553]
[ENSMUST00000143630]
[ENSMUST00000143630]
[ENSMUST00000207121]
[ENSMUST00000207121]
|
| AlphaFold |
Q6KAU8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000120267
|
| SMART Domains |
Protein: ENSMUSP00000112500
Gene: ENSMUSG00000047767
| 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 null
Transcript: ENSMUST00000120267
|
| SMART Domains |
Protein: ENSMUSP00000112500
Gene: ENSMUSG00000047767
| 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 null
Transcript: ENSMUST00000122116
|
| SMART Domains |
Protein: ENSMUSP00000113320
Gene: ENSMUSG00000047767
| 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 |
probably null
Transcript: ENSMUST00000122116
|
| SMART Domains |
Protein: ENSMUSP00000113320
Gene: ENSMUSG00000047767
| 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 |
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 |
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: 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 |
|
| 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 |
|
| 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 |
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 |
probably benign
Transcript: ENSMUST00000207121
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207121
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146445
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209093
|
| Meta Mutation Damage Score |
0.9497 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.5%
|
| Validation Efficiency |
99% (76/77) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
C |
A |
2: 68,547,572 (GRCm39) |
Q161K |
probably benign |
Het |
| Aatk |
A |
T |
11: 119,900,748 (GRCm39) |
L1216Q |
probably damaging |
Het |
| Aifm3 |
T |
C |
16: 17,321,535 (GRCm39) |
F463L |
possibly damaging |
Het |
| Antxr2 |
C |
T |
5: 98,108,496 (GRCm39) |
W338* |
probably null |
Het |
| Apc2 |
T |
C |
10: 80,140,801 (GRCm39) |
S219P |
probably damaging |
Het |
| Arfgap3 |
A |
T |
15: 83,192,389 (GRCm39) |
|
probably null |
Het |
| Arrdc5 |
A |
G |
17: 56,607,020 (GRCm39) |
V75A |
possibly damaging |
Het |
| Cacna1i |
A |
G |
15: 80,265,281 (GRCm39) |
N1511S |
possibly damaging |
Het |
| Cad |
T |
C |
5: 31,235,032 (GRCm39) |
Y2095H |
probably damaging |
Het |
| Chia1 |
T |
C |
3: 106,035,753 (GRCm39) |
|
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,801,765 (GRCm39) |
D975G |
probably damaging |
Het |
| Dagla |
T |
C |
19: 10,232,247 (GRCm39) |
I480V |
probably damaging |
Het |
| Efl1 |
C |
T |
7: 82,301,095 (GRCm39) |
T33I |
probably damaging |
Het |
| Esp36 |
A |
G |
17: 38,728,060 (GRCm39) |
F74L |
probably benign |
Het |
| Faim |
T |
C |
9: 98,874,149 (GRCm39) |
|
probably benign |
Het |
| Fam83h |
G |
T |
15: 75,875,776 (GRCm39) |
H520Q |
probably benign |
Het |
| Fbn2 |
A |
T |
18: 58,178,446 (GRCm39) |
C1931S |
probably damaging |
Het |
| Frs3 |
A |
G |
17: 48,012,581 (GRCm39) |
D96G |
probably benign |
Het |
| Gbp4 |
A |
G |
5: 105,269,706 (GRCm39) |
M374T |
probably damaging |
Het |
| Gimap1 |
C |
T |
6: 48,718,359 (GRCm39) |
|
probably benign |
Het |
| Gm10010 |
A |
G |
6: 128,177,576 (GRCm39) |
|
noncoding transcript |
Het |
| Gm10355 |
T |
C |
3: 101,214,214 (GRCm39) |
|
noncoding transcript |
Het |
| Gmip |
C |
T |
8: 70,264,095 (GRCm39) |
|
probably benign |
Het |
| Gpc2 |
A |
T |
5: 138,276,796 (GRCm39) |
F110Y |
possibly damaging |
Het |
| Ifi44l |
C |
T |
3: 151,468,396 (GRCm39) |
V45M |
probably benign |
Het |
| Il15 |
T |
C |
8: 83,069,890 (GRCm39) |
E58G |
probably damaging |
Het |
| Kat2b |
T |
C |
17: 53,951,771 (GRCm39) |
|
probably benign |
Het |
| Kcnh7 |
C |
A |
2: 62,607,854 (GRCm39) |
V576L |
probably benign |
Het |
| Lrrc66 |
T |
A |
5: 73,772,816 (GRCm39) |
|
probably benign |
Het |
| Mical1 |
A |
G |
10: 41,358,235 (GRCm39) |
E416G |
probably benign |
Het |
| Mroh3 |
A |
G |
1: 136,118,740 (GRCm39) |
Y526H |
probably damaging |
Het |
| Mtx2 |
T |
C |
2: 74,699,634 (GRCm39) |
|
probably benign |
Het |
| Naip6 |
A |
T |
13: 100,437,036 (GRCm39) |
Y496N |
probably benign |
Het |
| Nfyc |
A |
G |
4: 120,626,081 (GRCm39) |
S73P |
probably benign |
Het |
| Or10v9 |
C |
T |
19: 11,832,487 (GRCm39) |
V277M |
probably damaging |
Het |
| Or10v9 |
A |
C |
19: 11,832,732 (GRCm39) |
V195G |
probably damaging |
Het |
| Or1e23 |
T |
A |
11: 73,407,750 (GRCm39) |
I92F |
probably damaging |
Het |
| Or5ak25 |
A |
G |
2: 85,268,845 (GRCm39) |
I219T |
probably benign |
Het |
| Or6c69b |
T |
A |
10: 129,627,101 (GRCm39) |
D119V |
probably damaging |
Het |
| P2ry14 |
A |
G |
3: 59,022,869 (GRCm39) |
V206A |
probably benign |
Het |
| Polg |
G |
A |
7: 79,109,896 (GRCm39) |
|
probably benign |
Het |
| Potefam1 |
T |
C |
2: 111,030,763 (GRCm39) |
E382G |
probably damaging |
Het |
| Ptgs1 |
G |
A |
2: 36,130,868 (GRCm39) |
|
probably benign |
Het |
| Pus7l |
A |
G |
15: 94,421,298 (GRCm39) |
S671P |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,184,112 (GRCm39) |
T1547A |
probably benign |
Het |
| Rif1 |
T |
C |
2: 52,001,600 (GRCm39) |
S1685P |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,361,036 (GRCm39) |
Y4452H |
probably damaging |
Het |
| Samd7 |
A |
G |
3: 30,810,670 (GRCm39) |
D229G |
probably benign |
Het |
| Serpina3j |
T |
C |
12: 104,281,078 (GRCm39) |
S84P |
possibly damaging |
Het |
| Slc35d1 |
A |
G |
4: 103,070,441 (GRCm39) |
|
probably benign |
Het |
| Sorbs2 |
A |
G |
8: 46,249,347 (GRCm39) |
D847G |
probably damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Steap4 |
T |
C |
5: 8,027,030 (GRCm39) |
|
probably benign |
Het |
| Tg |
A |
C |
15: 66,589,057 (GRCm39) |
T13P |
probably damaging |
Het |
| Timeless |
T |
A |
10: 128,080,542 (GRCm39) |
Y474* |
probably null |
Het |
| Tmem94 |
T |
C |
11: 115,682,886 (GRCm39) |
|
probably null |
Het |
| Trdmt1 |
G |
A |
2: 13,521,459 (GRCm39) |
|
probably benign |
Het |
| Trim23 |
T |
C |
13: 104,337,817 (GRCm39) |
Y522H |
probably benign |
Het |
| Ttc13 |
A |
T |
8: 125,401,105 (GRCm39) |
S624T |
probably damaging |
Het |
| Txnl1 |
A |
G |
18: 63,825,135 (GRCm39) |
|
probably benign |
Het |
| Unkl |
T |
C |
17: 25,427,057 (GRCm39) |
|
probably benign |
Het |
| Usp54 |
T |
A |
14: 20,639,437 (GRCm39) |
|
probably benign |
Het |
| Vcam1 |
T |
C |
3: 115,910,908 (GRCm39) |
K497E |
possibly damaging |
Het |
| Vmn1r49 |
C |
A |
6: 90,049,648 (GRCm39) |
S118I |
possibly damaging |
Het |
| Vmn2r118 |
T |
C |
17: 55,915,466 (GRCm39) |
K495E |
probably benign |
Het |
| Wrnip1 |
G |
A |
13: 33,005,073 (GRCm39) |
C560Y |
possibly damaging |
Het |
| Xkr5 |
T |
C |
8: 18,983,563 (GRCm39) |
R660G |
probably benign |
Het |
| Zfp280c |
A |
G |
X: 47,637,580 (GRCm39) |
|
probably benign |
Het |
| Zfp707 |
G |
A |
15: 75,846,978 (GRCm39) |
A291T |
possibly 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTAAGGTAAGCAGCCAGCTTGGGG -3'
(R):5'- GGAGGCCATACACAGGTGGTTTTG -3'
Sequencing Primer
(F):5'- CCAGCTTGGGGAGGACTC -3'
(R):5'- CCATCCCAGTATGAGGTAGCTTG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation