Incidental Mutation 'R8222:Atg2b'
| ID |
636781 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg2b
|
| Ensembl Gene |
ENSMUSG00000041341 |
| Gene Name |
autophagy related 2B |
| Synonyms |
C030004M05Rik, 2410024A21Rik, C630028L02Rik |
| MMRRC Submission |
067640-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.205)
|
| Stock # |
R8222 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
105582395-105651470 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105618475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 859
(I859T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041055]
|
| AlphaFold |
Q80XK6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041055
AA Change: I859T
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000037441
Gene: ENSMUSG00000041341
AA Change: I859T
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
100% (56/56) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh18a1 |
C |
T |
19: 40,562,296 (GRCm39) |
V243I |
probably benign |
Het |
| Ankrd11 |
A |
T |
8: 123,622,347 (GRCm39) |
S481T |
probably damaging |
Het |
| B4galt3 |
G |
A |
1: 171,100,253 (GRCm39) |
R141Q |
possibly damaging |
Het |
| Bace1 |
T |
C |
9: 45,768,491 (GRCm39) |
V262A |
probably damaging |
Het |
| BC106179 |
A |
T |
16: 23,043,055 (GRCm39) |
I47N |
noncoding transcript |
Het |
| Brpf1 |
C |
T |
6: 113,286,999 (GRCm39) |
P76S |
probably benign |
Het |
| Cdk1 |
A |
G |
10: 69,176,426 (GRCm39) |
V227A |
probably benign |
Het |
| Ceacam20 |
T |
C |
7: 19,705,618 (GRCm39) |
V203A |
probably benign |
Het |
| Cfap251 |
T |
A |
5: 123,440,486 (GRCm39) |
Y1091N |
probably damaging |
Het |
| Cma2 |
T |
C |
14: 56,210,727 (GRCm39) |
V194A |
probably benign |
Het |
| Cnnm4 |
A |
G |
1: 36,545,617 (GRCm39) |
D749G |
probably benign |
Het |
| Cyp11b2 |
T |
C |
15: 74,728,059 (GRCm39) |
T8A |
probably benign |
Het |
| Dlk2 |
A |
G |
17: 46,613,384 (GRCm39) |
H170R |
probably benign |
Het |
| Esyt1 |
C |
T |
10: 128,347,647 (GRCm39) |
R987Q |
possibly damaging |
Het |
| Ganc |
T |
C |
2: 120,276,933 (GRCm39) |
I665T |
probably damaging |
Het |
| Gas6 |
T |
C |
8: 13,520,276 (GRCm39) |
T471A |
probably benign |
Het |
| Grik2 |
A |
G |
10: 49,449,744 (GRCm39) |
F153L |
probably benign |
Het |
| Heatr5b |
A |
G |
17: 79,109,130 (GRCm39) |
V1043A |
possibly damaging |
Het |
| Ipo5 |
A |
G |
14: 121,157,414 (GRCm39) |
D84G |
probably benign |
Het |
| Irak4 |
T |
A |
15: 94,459,110 (GRCm39) |
|
probably null |
Het |
| Lrp4 |
T |
A |
2: 91,305,086 (GRCm39) |
C238S |
probably damaging |
Het |
| Mau2 |
A |
T |
8: 70,485,827 (GRCm39) |
|
probably null |
Het |
| Mdn1 |
T |
C |
4: 32,707,477 (GRCm39) |
F1589L |
probably benign |
Het |
| Mlxip |
T |
G |
5: 123,585,596 (GRCm39) |
S662A |
probably benign |
Het |
| Mn1 |
A |
T |
5: 111,566,546 (GRCm39) |
N172I |
probably damaging |
Het |
| Mup2 |
A |
C |
4: 60,138,454 (GRCm39) |
D79E |
probably benign |
Het |
| Nab2 |
C |
A |
10: 127,498,645 (GRCm39) |
V475L |
probably benign |
Het |
| Nlrp3 |
A |
G |
11: 59,439,614 (GRCm39) |
E397G |
probably damaging |
Het |
| Odf2l |
A |
G |
3: 144,833,799 (GRCm39) |
E153G |
probably damaging |
Het |
| Or13p10 |
T |
C |
4: 118,523,113 (GRCm39) |
L133P |
probably damaging |
Het |
| Or51f5 |
G |
T |
7: 102,424,099 (GRCm39) |
D123Y |
probably damaging |
Het |
| Or5d36 |
T |
A |
2: 87,901,381 (GRCm39) |
Y115F |
probably benign |
Het |
| Or5l13 |
T |
C |
2: 87,779,788 (GRCm39) |
N263S |
probably benign |
Het |
| Pkdrej |
T |
A |
15: 85,701,640 (GRCm39) |
H1432L |
probably benign |
Het |
| Plec |
C |
T |
15: 76,063,374 (GRCm39) |
R2232H |
possibly damaging |
Het |
| Polk |
T |
C |
13: 96,632,023 (GRCm39) |
M317V |
possibly damaging |
Het |
| Ppp4r3a |
A |
G |
12: 101,008,164 (GRCm39) |
S758P |
probably benign |
Het |
| Pramel26 |
A |
T |
4: 143,536,893 (GRCm39) |
D479E |
possibly damaging |
Het |
| Prdm9 |
A |
G |
17: 15,765,035 (GRCm39) |
S582P |
possibly damaging |
Het |
| R3hcc1l |
T |
A |
19: 42,564,616 (GRCm39) |
L643H |
probably damaging |
Het |
| Rassf8 |
G |
A |
6: 145,765,783 (GRCm39) |
V38M |
unknown |
Het |
| Reln |
G |
A |
5: 22,136,475 (GRCm39) |
Q2518* |
probably null |
Het |
| Sel1l3 |
A |
G |
5: 53,345,296 (GRCm39) |
|
probably null |
Het |
| Serpina3m |
A |
T |
12: 104,358,960 (GRCm39) |
D324V |
possibly damaging |
Het |
| Slc12a6 |
T |
A |
2: 112,169,870 (GRCm39) |
|
probably null |
Het |
| Slc25a3 |
A |
G |
10: 90,954,053 (GRCm39) |
W219R |
probably damaging |
Het |
| Sort1 |
T |
A |
3: 108,241,951 (GRCm39) |
V299E |
probably benign |
Het |
| Stx6 |
A |
G |
1: 155,073,889 (GRCm39) |
D233G |
possibly damaging |
Het |
| Tefm |
A |
G |
11: 80,031,230 (GRCm39) |
V2A |
|
Het |
| Tfdp2 |
T |
C |
9: 96,192,666 (GRCm39) |
S190P |
possibly damaging |
Het |
| Tmprss7 |
A |
T |
16: 45,478,461 (GRCm39) |
I755N |
probably damaging |
Het |
| Trpm8 |
A |
G |
1: 88,253,390 (GRCm39) |
|
probably null |
Het |
| Ube2q2l |
A |
G |
6: 136,377,882 (GRCm39) |
I316T |
probably damaging |
Het |
| Ugt2a2 |
A |
G |
5: 87,608,369 (GRCm39) |
L490P |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,614,234 (GRCm39) |
L1240P |
probably damaging |
Het |
| Vmn1r159 |
G |
T |
7: 22,542,608 (GRCm39) |
Y141* |
probably null |
Het |
| Vmn2r56 |
T |
A |
7: 12,444,960 (GRCm39) |
Y431F |
probably benign |
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 |
|
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'- GTTCAAAACCAACCTGGGAC -3'
(R):5'- TCGTGAAGTCTACCCGTCTG -3'
Sequencing Primer
(F):5'- GGTAACTCCCTGCAGTGCTC -3'
(R):5'- AAGTCTACCCGTCTGTAAGTGG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation