Incidental Mutation 'R6326:Atg2b'
| ID |
510436 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg2b
|
| Ensembl Gene |
ENSMUSG00000041341 |
| Gene Name |
autophagy related 2B |
| Synonyms |
C030004M05Rik, 2410024A21Rik, C630028L02Rik |
| MMRRC Submission |
044480-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.205)
|
| Stock # |
R6326 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
105582395-105651470 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 105627351 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 545
(C545*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041055]
|
| AlphaFold |
Q80XK6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041055
AA Change: C545*
|
| SMART Domains |
Protein: ENSMUSP00000037441
Gene: ENSMUSG00000041341
AA Change: C545*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Chorein_N
|
11 |
127 |
3.5e-19 |
PFAM |
|
low complexity region
|
286 |
298 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
428 |
N/A |
INTRINSIC |
|
low complexity region
|
864 |
870 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
904 |
N/A |
INTRINSIC |
|
low complexity region
|
1722 |
1733 |
N/A |
INTRINSIC |
|
Pfam:ATG_C
|
1976 |
2071 |
1.4e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221568
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein required for autophagy. The encoded protein is involved in autophagosome formation. A germline duplication of a region that includes this gene is associated with predisposition to myeloid malignancies. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
A |
T |
7: 66,770,636 (GRCm39) |
Y915F |
probably benign |
Het |
| Adap2 |
T |
A |
11: 80,045,848 (GRCm39) |
F43I |
probably damaging |
Het |
| Adprs |
A |
T |
4: 126,210,406 (GRCm39) |
L358Q |
possibly damaging |
Het |
| Akap9 |
A |
C |
5: 4,012,061 (GRCm39) |
Q921H |
probably damaging |
Het |
| Amigo2 |
A |
G |
15: 97,143,256 (GRCm39) |
S389P |
probably benign |
Het |
| C2cd3 |
A |
G |
7: 100,065,635 (GRCm39) |
E807G |
probably benign |
Het |
| Ccdc110 |
A |
G |
8: 46,395,078 (GRCm39) |
E323G |
probably damaging |
Het |
| Cdk5rap2 |
T |
A |
4: 70,153,691 (GRCm39) |
S1711C |
probably damaging |
Het |
| Cebpzos |
T |
G |
17: 79,226,486 (GRCm39) |
D39E |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 134,945,539 (GRCm39) |
N1018D |
probably benign |
Het |
| Cfap68 |
T |
G |
9: 50,676,057 (GRCm39) |
N87T |
probably damaging |
Het |
| Clspn |
C |
A |
4: 126,459,532 (GRCm39) |
H141Q |
probably damaging |
Het |
| Cluh |
C |
T |
11: 74,557,068 (GRCm39) |
A1010V |
probably benign |
Het |
| Col27a1 |
G |
T |
4: 63,242,678 (GRCm39) |
|
probably benign |
Het |
| Cpt2 |
T |
C |
4: 107,771,513 (GRCm39) |
M61V |
probably benign |
Het |
| Ddr2 |
T |
A |
1: 169,814,709 (GRCm39) |
H578L |
probably damaging |
Het |
| Dnah14 |
T |
A |
1: 181,611,121 (GRCm39) |
I3749N |
probably damaging |
Het |
| Dnajc18 |
T |
C |
18: 35,813,978 (GRCm39) |
T264A |
possibly damaging |
Het |
| Ecpas |
T |
A |
4: 58,827,068 (GRCm39) |
T1022S |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,769,066 (GRCm39) |
N693S |
probably damaging |
Het |
| Ephx4 |
A |
G |
5: 107,553,977 (GRCm39) |
E9G |
probably damaging |
Het |
| Eps15l1 |
G |
A |
8: 73,095,278 (GRCm39) |
Q747* |
probably null |
Het |
| Flrt1 |
C |
T |
19: 7,073,974 (GRCm39) |
S191N |
probably damaging |
Het |
| Gm5114 |
C |
T |
7: 39,057,579 (GRCm39) |
R680H |
probably benign |
Het |
| Gm5431 |
T |
C |
11: 48,780,172 (GRCm39) |
H250R |
probably damaging |
Het |
| Gm7233 |
T |
C |
14: 43,040,342 (GRCm39) |
C198R |
possibly damaging |
Het |
| Herc2 |
C |
G |
7: 55,872,682 (GRCm39) |
Q4407E |
probably damaging |
Het |
| Hmx3 |
C |
G |
7: 131,144,734 (GRCm39) |
|
probably benign |
Het |
| Hoxb7 |
C |
A |
11: 96,177,909 (GRCm39) |
A119E |
probably benign |
Het |
| Ifi207 |
A |
T |
1: 173,557,532 (GRCm39) |
M402K |
probably benign |
Het |
| Ints14 |
T |
C |
9: 64,871,719 (GRCm39) |
V19A |
probably benign |
Het |
| Itgae |
T |
A |
11: 73,022,519 (GRCm39) |
N911K |
possibly damaging |
Het |
| Kif1a |
T |
C |
1: 93,004,048 (GRCm39) |
S145G |
probably damaging |
Het |
| Klhdc4 |
A |
G |
8: 122,531,793 (GRCm39) |
W187R |
probably damaging |
Het |
| Krt1 |
A |
T |
15: 101,758,684 (GRCm39) |
I160N |
probably damaging |
Het |
| Krt12 |
T |
C |
11: 99,307,745 (GRCm39) |
T448A |
probably benign |
Het |
| Lcmt2 |
G |
A |
2: 120,969,938 (GRCm39) |
R382* |
probably null |
Het |
| Map3k8 |
C |
T |
18: 4,340,651 (GRCm39) |
S221N |
probably damaging |
Het |
| Med17 |
T |
C |
9: 15,190,854 (GRCm39) |
D79G |
probably benign |
Het |
| Mlf1 |
A |
T |
3: 67,307,060 (GRCm39) |
I257F |
probably damaging |
Het |
| Mov10l1 |
T |
A |
15: 88,879,098 (GRCm39) |
F153I |
probably damaging |
Het |
| Msto1 |
A |
C |
3: 88,819,405 (GRCm39) |
V149G |
probably damaging |
Het |
| Mybl1 |
T |
C |
1: 9,748,732 (GRCm39) |
|
probably null |
Het |
| Myoc |
A |
G |
1: 162,476,580 (GRCm39) |
Y428C |
probably damaging |
Het |
| Nin |
A |
G |
12: 70,091,955 (GRCm39) |
S785P |
possibly damaging |
Het |
| Oit3 |
A |
T |
10: 59,264,061 (GRCm39) |
F358I |
probably damaging |
Het |
| Or5t15 |
C |
T |
2: 86,681,338 (GRCm39) |
V235I |
probably benign |
Het |
| Or6c88 |
A |
G |
10: 129,406,571 (GRCm39) |
T16A |
possibly damaging |
Het |
| Paip1 |
A |
G |
13: 119,566,753 (GRCm39) |
N29S |
probably benign |
Het |
| Pcdhgb4 |
T |
C |
18: 37,855,509 (GRCm39) |
S635P |
probably benign |
Het |
| Pcsk1 |
A |
G |
13: 75,280,298 (GRCm39) |
N708D |
possibly damaging |
Het |
| Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
| Prag1 |
A |
T |
8: 36,569,860 (GRCm39) |
M148L |
possibly damaging |
Het |
| Ptch1 |
A |
G |
13: 63,691,359 (GRCm39) |
L176P |
probably damaging |
Het |
| Ralgapa1 |
A |
T |
12: 55,793,931 (GRCm39) |
V568D |
probably damaging |
Het |
| Rb1 |
A |
T |
14: 73,435,974 (GRCm39) |
M897K |
probably benign |
Het |
| Resf1 |
T |
A |
6: 149,230,493 (GRCm39) |
Y1180N |
probably damaging |
Het |
| Robo3 |
T |
A |
9: 37,338,323 (GRCm39) |
Q386L |
probably damaging |
Het |
| Rtn4rl1 |
T |
C |
11: 75,156,828 (GRCm39) |
V420A |
possibly damaging |
Het |
| Sall1 |
A |
T |
8: 89,756,896 (GRCm39) |
N1069K |
probably benign |
Het |
| Sipa1l1 |
A |
G |
12: 82,419,242 (GRCm39) |
E640G |
probably damaging |
Het |
| Slc22a2 |
C |
A |
17: 12,831,297 (GRCm39) |
Y362* |
probably null |
Het |
| Slc5a9 |
T |
C |
4: 111,737,450 (GRCm39) |
E603G |
probably benign |
Het |
| Slc6a17 |
A |
T |
3: 107,407,722 (GRCm39) |
I83N |
probably damaging |
Het |
| Snx29 |
G |
T |
16: 11,221,430 (GRCm39) |
M285I |
probably benign |
Het |
| Spata2 |
T |
C |
2: 167,326,094 (GRCm39) |
T242A |
possibly damaging |
Het |
| Stard13 |
A |
G |
5: 150,970,384 (GRCm39) |
L733P |
possibly damaging |
Het |
| Svep1 |
A |
G |
4: 58,073,045 (GRCm39) |
V2088A |
possibly damaging |
Het |
| Tdp2 |
A |
G |
13: 25,024,540 (GRCm39) |
E279G |
probably damaging |
Het |
| Tnfrsf8 |
T |
G |
4: 144,995,794 (GRCm39) |
I422L |
probably damaging |
Het |
| Tpk1 |
T |
A |
6: 43,323,736 (GRCm39) |
T189S |
possibly damaging |
Het |
| Trhde |
A |
T |
10: 114,403,129 (GRCm39) |
M498K |
probably damaging |
Het |
| Trim35 |
T |
A |
14: 66,540,653 (GRCm39) |
H168Q |
possibly damaging |
Het |
| Tubb5 |
T |
C |
17: 36,147,347 (GRCm39) |
|
probably benign |
Het |
| Tut4 |
C |
T |
4: 108,336,177 (GRCm39) |
T6I |
probably benign |
Het |
| Vmn1r181 |
G |
A |
7: 23,684,183 (GRCm39) |
R216Q |
probably benign |
Het |
| Vmn2r77 |
G |
A |
7: 86,451,031 (GRCm39) |
G306R |
probably benign |
Het |
| Xkr4 |
C |
T |
1: 3,741,261 (GRCm39) |
R104H |
possibly damaging |
Het |
| Zfp398 |
T |
C |
6: 47,843,355 (GRCm39) |
I337T |
possibly damaging |
Het |
|
| Other mutations in Atg2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00538:Atg2b
|
APN |
12 |
105,611,175 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01326:Atg2b
|
APN |
12 |
105,588,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02063:Atg2b
|
APN |
12 |
105,614,581 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02260:Atg2b
|
APN |
12 |
105,602,699 (GRCm39) |
splice site |
probably benign |
|
|
IGL02376:Atg2b
|
APN |
12 |
105,611,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02381:Atg2b
|
APN |
12 |
105,614,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02434:Atg2b
|
APN |
12 |
105,605,466 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02534:Atg2b
|
APN |
12 |
105,609,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03011:Atg2b
|
APN |
12 |
105,592,621 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03173:Atg2b
|
APN |
12 |
105,624,553 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6669_atg2b_067
|
UTSW |
12 |
105,637,788 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
rail
|
UTSW |
12 |
105,625,099 (GRCm39) |
nonsense |
probably null |
|
|
Sora
|
UTSW |
12 |
105,589,689 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0066:Atg2b
|
UTSW |
12 |
105,614,708 (GRCm39) |
missense |
probably benign |
|
|
R0066:Atg2b
|
UTSW |
12 |
105,614,708 (GRCm39) |
missense |
probably benign |
|
|
R0511:Atg2b
|
UTSW |
12 |
105,583,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0762:Atg2b
|
UTSW |
12 |
105,641,229 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0786:Atg2b
|
UTSW |
12 |
105,602,767 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1029:Atg2b
|
UTSW |
12 |
105,602,032 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1529:Atg2b
|
UTSW |
12 |
105,627,392 (GRCm39) |
missense |
probably benign |
|
|
R1563:Atg2b
|
UTSW |
12 |
105,589,747 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1746:Atg2b
|
UTSW |
12 |
105,635,588 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1887:Atg2b
|
UTSW |
12 |
105,620,351 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1956:Atg2b
|
UTSW |
12 |
105,635,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1957:Atg2b
|
UTSW |
12 |
105,635,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2272:Atg2b
|
UTSW |
12 |
105,604,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2877:Atg2b
|
UTSW |
12 |
105,630,268 (GRCm39) |
nonsense |
probably null |
|
|
R2878:Atg2b
|
UTSW |
12 |
105,630,268 (GRCm39) |
nonsense |
probably null |
|
|
R4798:Atg2b
|
UTSW |
12 |
105,618,888 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4836:Atg2b
|
UTSW |
12 |
105,613,073 (GRCm39) |
missense |
probably benign |
|
|
R5007:Atg2b
|
UTSW |
12 |
105,610,135 (GRCm39) |
splice site |
probably null |
|
|
R5042:Atg2b
|
UTSW |
12 |
105,587,521 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5134:Atg2b
|
UTSW |
12 |
105,641,209 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5212:Atg2b
|
UTSW |
12 |
105,613,055 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5250:Atg2b
|
UTSW |
12 |
105,602,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5307:Atg2b
|
UTSW |
12 |
105,624,588 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5342:Atg2b
|
UTSW |
12 |
105,625,175 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5583:Atg2b
|
UTSW |
12 |
105,615,414 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5656:Atg2b
|
UTSW |
12 |
105,587,587 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5660:Atg2b
|
UTSW |
12 |
105,615,383 (GRCm39) |
nonsense |
probably null |
|
|
R5903:Atg2b
|
UTSW |
12 |
105,605,618 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6018:Atg2b
|
UTSW |
12 |
105,627,430 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6153:Atg2b
|
UTSW |
12 |
105,589,741 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6584:Atg2b
|
UTSW |
12 |
105,624,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6593:Atg2b
|
UTSW |
12 |
105,611,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6669:Atg2b
|
UTSW |
12 |
105,637,788 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6847:Atg2b
|
UTSW |
12 |
105,602,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7003:Atg2b
|
UTSW |
12 |
105,620,508 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7193:Atg2b
|
UTSW |
12 |
105,630,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7387:Atg2b
|
UTSW |
12 |
105,589,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7432:Atg2b
|
UTSW |
12 |
105,630,957 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7432:Atg2b
|
UTSW |
12 |
105,627,463 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7630:Atg2b
|
UTSW |
12 |
105,613,213 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7634:Atg2b
|
UTSW |
12 |
105,618,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7645:Atg2b
|
UTSW |
12 |
105,589,689 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7653:Atg2b
|
UTSW |
12 |
105,602,731 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8157:Atg2b
|
UTSW |
12 |
105,629,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8222:Atg2b
|
UTSW |
12 |
105,618,475 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8469:Atg2b
|
UTSW |
12 |
105,604,170 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8708:Atg2b
|
UTSW |
12 |
105,635,687 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R8784:Atg2b
|
UTSW |
12 |
105,605,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8975:Atg2b
|
UTSW |
12 |
105,602,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8988:Atg2b
|
UTSW |
12 |
105,583,388 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9071:Atg2b
|
UTSW |
12 |
105,625,099 (GRCm39) |
nonsense |
probably null |
|
|
R9269:Atg2b
|
UTSW |
12 |
105,618,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9355:Atg2b
|
UTSW |
12 |
105,636,980 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9402:Atg2b
|
UTSW |
12 |
105,614,682 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9492:Atg2b
|
UTSW |
12 |
105,624,549 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9709:Atg2b
|
UTSW |
12 |
105,611,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9717:Atg2b
|
UTSW |
12 |
105,605,561 (GRCm39) |
missense |
probably benign |
|
|
R9746:Atg2b
|
UTSW |
12 |
105,630,197 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
X0018:Atg2b
|
UTSW |
12 |
105,632,956 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
X0066:Atg2b
|
UTSW |
12 |
105,613,044 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1177:Atg2b
|
UTSW |
12 |
105,602,023 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGAAGGAGACCCTACGGATC -3'
(R):5'- AGCTTCATGTGTCTCAGCTC -3'
Sequencing Primer
(F):5'- AGGAGACCCTACGGATCATCTCTG -3'
(R):5'- ATGTGTCTCAGCTCTCTCCTCTAGG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation