Incidental Mutation 'R9071:Atg2b'
ID |
689556 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atg2b
|
Ensembl Gene |
ENSMUSG00000041341 |
Gene Name |
autophagy related 2B |
Synonyms |
C030004M05Rik, 2410024A21Rik, C630028L02Rik |
MMRRC Submission |
068893-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.205)
|
Stock # |
R9071 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
105582395-105651470 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 105625099 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 626
(E626*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037441
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041055]
|
AlphaFold |
Q80XK6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000041055
AA Change: E626*
|
SMART Domains |
Protein: ENSMUSP00000037441 Gene: ENSMUSG00000041341 AA Change: E626*
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 |
|
Meta Mutation Damage Score |
0.9753 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (52/52) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
G |
T |
7: 41,274,783 (GRCm39) |
R162L |
probably benign |
Het |
Alpi |
A |
G |
1: 87,026,584 (GRCm39) |
V469A |
probably damaging |
Het |
Amotl2 |
G |
T |
9: 102,595,892 (GRCm39) |
|
probably benign |
Het |
Ano3 |
T |
A |
2: 110,625,418 (GRCm39) |
|
probably null |
Het |
Atg16l1 |
G |
T |
1: 87,683,907 (GRCm39) |
|
probably benign |
Het |
B3galt9 |
T |
C |
2: 34,728,435 (GRCm39) |
V78A |
probably benign |
Het |
Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
Ccdc162 |
G |
A |
10: 41,457,174 (GRCm39) |
Q1588* |
probably null |
Het |
Cd3d |
A |
T |
9: 44,896,340 (GRCm39) |
H43L |
probably benign |
Het |
Cenpk |
C |
T |
13: 104,378,870 (GRCm39) |
Q164* |
probably null |
Het |
Clybl |
C |
A |
14: 122,608,697 (GRCm39) |
D96E |
probably benign |
Het |
Cog1 |
T |
C |
11: 113,546,939 (GRCm39) |
V511A |
probably damaging |
Het |
Crhr1 |
T |
A |
11: 104,064,133 (GRCm39) |
I282N |
probably damaging |
Het |
Crybg2 |
A |
G |
4: 133,818,542 (GRCm39) |
N1433D |
probably damaging |
Het |
Cspp1 |
A |
T |
1: 10,159,121 (GRCm39) |
I516F |
possibly damaging |
Het |
Cul9 |
T |
C |
17: 46,837,379 (GRCm39) |
T1030A |
probably benign |
Het |
Cyp2d10 |
T |
C |
15: 82,288,361 (GRCm39) |
T313A |
probably damaging |
Het |
Ddx11 |
T |
A |
17: 66,450,736 (GRCm39) |
N549K |
probably damaging |
Het |
Ddx41 |
A |
G |
13: 55,680,219 (GRCm39) |
V391A |
probably damaging |
Het |
Eif3a |
T |
C |
19: 60,751,634 (GRCm39) |
D1227G |
unknown |
Het |
Fam83f |
T |
C |
15: 80,576,206 (GRCm39) |
Y286H |
probably damaging |
Het |
Fasn |
T |
C |
11: 120,708,324 (GRCm39) |
D647G |
probably damaging |
Het |
Fat4 |
T |
C |
3: 39,037,598 (GRCm39) |
V3750A |
probably benign |
Het |
Golga2 |
T |
C |
2: 32,178,364 (GRCm39) |
S14P |
probably damaging |
Het |
Hgsnat |
A |
G |
8: 26,436,302 (GRCm39) |
V584A |
possibly damaging |
Het |
Ifi207 |
A |
T |
1: 173,557,764 (GRCm39) |
F325I |
unknown |
Het |
Igfals |
A |
T |
17: 25,099,670 (GRCm39) |
I254F |
probably damaging |
Het |
Matr3 |
T |
C |
18: 35,705,803 (GRCm39) |
Y243H |
possibly damaging |
Het |
Mki67 |
G |
C |
7: 135,301,205 (GRCm39) |
D1276E |
probably benign |
Het |
Moap1 |
T |
A |
12: 102,709,364 (GRCm39) |
K62* |
probably null |
Het |
Msto1 |
C |
A |
3: 88,812,414 (GRCm39) |
|
probably benign |
Het |
Myt1 |
A |
T |
2: 181,448,420 (GRCm39) |
D697V |
possibly damaging |
Het |
Nampt |
T |
A |
12: 32,892,781 (GRCm39) |
V356E |
probably damaging |
Het |
Nell2 |
T |
A |
15: 95,244,682 (GRCm39) |
K472* |
probably null |
Het |
Nfe2l3 |
A |
C |
6: 51,434,243 (GRCm39) |
S268R |
probably benign |
Het |
Or8b43 |
T |
C |
9: 38,361,032 (GRCm39) |
I288T |
possibly damaging |
Het |
Osbpl10 |
G |
T |
9: 114,890,908 (GRCm39) |
V99L |
probably benign |
Het |
Plod2 |
A |
G |
9: 92,485,048 (GRCm39) |
I537M |
probably benign |
Het |
Prdm4 |
A |
G |
10: 85,729,076 (GRCm39) |
L770P |
probably benign |
Het |
Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
Scaper |
T |
C |
9: 55,771,803 (GRCm39) |
D371G |
probably benign |
Het |
Sema3e |
A |
G |
5: 14,282,154 (GRCm39) |
K430R |
probably benign |
Het |
Sez6l |
A |
T |
5: 112,573,603 (GRCm39) |
|
probably benign |
Het |
Slco1a5 |
A |
T |
6: 142,196,052 (GRCm39) |
I317N |
possibly damaging |
Het |
Spata4 |
T |
G |
8: 55,055,742 (GRCm39) |
F211C |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,433,982 (GRCm39) |
E929G |
probably benign |
Het |
Sult1e1 |
A |
C |
5: 87,735,681 (GRCm39) |
|
probably benign |
Het |
Tas2r125 |
A |
T |
6: 132,887,400 (GRCm39) |
N263Y |
probably benign |
Het |
Ugt3a1 |
T |
A |
15: 9,370,224 (GRCm39) |
L456* |
probably null |
Het |
Wdr20rt |
G |
A |
12: 65,274,222 (GRCm39) |
V562I |
probably benign |
Het |
Zc3h7b |
T |
C |
15: 81,677,964 (GRCm39) |
*983Q |
probably null |
Het |
Zfp28 |
T |
A |
7: 6,397,544 (GRCm39) |
C660S |
probably 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 |
R6326:Atg2b
|
UTSW |
12 |
105,627,351 (GRCm39) |
nonsense |
probably null |
|
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 |
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'- ACACATAACCTGTCTGCCTC -3'
(R):5'- AGCATGTAGAGACCCTTAAATGC -3'
Sequencing Primer
(F):5'- ATAACCTGTCTGCCTCCTCAGATAAC -3'
(R):5'- GAGACCCTTAAATGCTTCTTTTGTG -3'
|
Posted On |
2021-11-19 |