Incidental Mutation 'R8975:Atg2b'
| ID |
683404 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg2b
|
| Ensembl Gene |
ENSMUSG00000041341 |
| Gene Name |
autophagy related 2B |
| Synonyms |
C030004M05Rik, 2410024A21Rik, C630028L02Rik |
| MMRRC Submission |
068809-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.205)
|
| Stock # |
R8975 (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 T
at 105602725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1606
(M1606K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041055]
|
| AlphaFold |
Q80XK6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041055
AA Change: M1606K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037441
Gene: ENSMUSG00000041341
AA Change: M1606K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (64/64) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
G |
5: 144,980,192 (GRCm39) |
D47G |
probably damaging |
Het |
| 4930550C14Rik |
A |
T |
9: 53,334,258 (GRCm39) |
K167M |
possibly damaging |
Het |
| Abhd16b |
A |
G |
2: 181,135,806 (GRCm39) |
N236S |
probably benign |
Het |
| Ahnak |
T |
G |
19: 8,990,101 (GRCm39) |
V3795G |
probably damaging |
Het |
| Bmt2 |
A |
T |
6: 13,630,611 (GRCm39) |
I187K |
probably damaging |
Het |
| Cep250 |
C |
T |
2: 155,812,042 (GRCm39) |
A446V |
unknown |
Het |
| Cep290 |
A |
G |
10: 100,349,782 (GRCm39) |
N610D |
possibly damaging |
Het |
| Ctps1 |
C |
T |
4: 120,406,743 (GRCm39) |
D338N |
probably benign |
Het |
| Ctsz |
A |
T |
2: 174,275,421 (GRCm39) |
I118N |
probably benign |
Het |
| Depdc1b |
A |
G |
13: 108,525,094 (GRCm39) |
E483G |
probably null |
Het |
| Dhh |
T |
C |
15: 98,795,976 (GRCm39) |
S60G |
probably damaging |
Het |
| Dpagt1 |
T |
C |
9: 44,237,446 (GRCm39) |
|
probably benign |
Het |
| Dpy19l1 |
T |
C |
9: 24,359,102 (GRCm39) |
K162R |
probably damaging |
Het |
| Dynap |
T |
C |
18: 70,375,093 (GRCm39) |
T41A |
possibly damaging |
Het |
| Dyrk4 |
T |
C |
6: 126,871,783 (GRCm39) |
N162D |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,954,415 (GRCm39) |
K5090E |
probably benign |
Het |
| Eml5 |
T |
A |
12: 98,776,829 (GRCm39) |
T1429S |
probably damaging |
Het |
| Fbn2 |
C |
T |
18: 58,286,928 (GRCm39) |
G244R |
probably damaging |
Het |
| Fer1l5 |
A |
G |
1: 36,456,897 (GRCm39) |
D1625G |
probably benign |
Het |
| Frmd4b |
G |
A |
6: 97,283,477 (GRCm39) |
T484M |
possibly damaging |
Het |
| Hhat |
T |
C |
1: 192,431,250 (GRCm39) |
E33G |
probably damaging |
Het |
| Ifngr1 |
A |
G |
10: 19,485,360 (GRCm39) |
D453G |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,335,628 (GRCm39) |
I2246N |
possibly damaging |
Het |
| Larp4b |
T |
G |
13: 9,195,537 (GRCm39) |
I212S |
probably damaging |
Het |
| Lilra5 |
T |
C |
7: 4,241,636 (GRCm39) |
V145A |
probably benign |
Het |
| Map1lc3a |
A |
G |
2: 155,118,926 (GRCm39) |
K30R |
possibly damaging |
Het |
| Mapk8ip1 |
A |
G |
2: 92,215,166 (GRCm39) |
Y652H |
probably damaging |
Het |
| Med23 |
A |
G |
10: 24,780,334 (GRCm39) |
E994G |
probably benign |
Het |
| Mep1b |
A |
T |
18: 21,208,714 (GRCm39) |
D30V |
probably benign |
Het |
| Mki67 |
C |
A |
7: 135,297,364 (GRCm39) |
A2557S |
possibly damaging |
Het |
| Mki67 |
T |
C |
7: 135,300,129 (GRCm39) |
D1635G |
probably benign |
Het |
| Msantd5f6 |
A |
G |
4: 73,320,167 (GRCm39) |
L204P |
probably damaging |
Het |
| Mup3 |
A |
T |
4: 62,003,472 (GRCm39) |
D132E |
probably benign |
Het |
| Myo15b |
A |
T |
11: 115,781,780 (GRCm39) |
T2830S |
unknown |
Het |
| Myocd |
T |
A |
11: 65,069,287 (GRCm39) |
H979L |
probably damaging |
Het |
| Nvl |
A |
T |
1: 180,958,001 (GRCm39) |
N260K |
probably benign |
Het |
| Or2a57 |
T |
A |
6: 43,213,056 (GRCm39) |
H171Q |
probably benign |
Het |
| Or2d2b |
T |
A |
7: 106,705,664 (GRCm39) |
T135S |
probably benign |
Het |
| Or4d2 |
T |
A |
11: 87,784,645 (GRCm39) |
Y35F |
probably damaging |
Het |
| Pdha2 |
C |
A |
3: 140,917,649 (GRCm39) |
|
probably benign |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Phtf2 |
A |
C |
5: 20,969,249 (GRCm39) |
V687G |
probably damaging |
Het |
| Plagl2 |
C |
T |
2: 153,074,346 (GRCm39) |
G185D |
possibly damaging |
Het |
| Ppp1r3e |
A |
G |
14: 55,113,946 (GRCm39) |
V242A |
probably benign |
Het |
| Proser3 |
A |
G |
7: 30,239,458 (GRCm39) |
S549P |
possibly damaging |
Het |
| Prrc2c |
A |
G |
1: 162,533,630 (GRCm39) |
V995A |
unknown |
Het |
| Ptpn13 |
A |
G |
5: 103,649,266 (GRCm39) |
H223R |
probably benign |
Het |
| Rsf1 |
CG |
CGTCGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Scn11a |
T |
C |
9: 119,587,565 (GRCm39) |
E1393G |
probably damaging |
Het |
| Sipa1l1 |
T |
A |
12: 82,479,612 (GRCm39) |
S1432T |
possibly damaging |
Het |
| Slc10a5 |
G |
C |
3: 10,399,670 (GRCm39) |
A330G |
probably benign |
Het |
| Slc2a5 |
A |
C |
4: 150,224,270 (GRCm39) |
N293H |
probably damaging |
Het |
| Spmap1 |
A |
T |
11: 97,663,572 (GRCm39) |
Y93N |
probably damaging |
Het |
| Spmip4 |
C |
T |
6: 50,561,391 (GRCm39) |
R176H |
probably damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,073,869 (GRCm39) |
E1400G |
possibly damaging |
Het |
| Stk33 |
T |
A |
7: 108,935,280 (GRCm39) |
I171F |
probably damaging |
Het |
| Syne1 |
G |
A |
10: 5,161,945 (GRCm39) |
H5450Y |
probably benign |
Het |
| Tbcd |
G |
C |
11: 121,387,679 (GRCm39) |
|
probably benign |
Het |
| Tkt |
T |
A |
14: 30,288,884 (GRCm39) |
|
probably benign |
Het |
| Tpra1 |
A |
T |
6: 88,888,726 (GRCm39) |
M303L |
probably benign |
Het |
| Ubr3 |
T |
C |
2: 69,752,651 (GRCm39) |
S303P |
probably damaging |
Het |
| Uqcrc1 |
T |
C |
9: 108,776,721 (GRCm39) |
F341S |
probably damaging |
Het |
| Vmn1r223 |
T |
C |
13: 23,434,248 (GRCm39) |
S281P |
possibly damaging |
Het |
| Vmn1r32 |
C |
A |
6: 66,530,189 (GRCm39) |
A196S |
probably benign |
Het |
| Zfp644 |
G |
T |
5: 106,785,467 (GRCm39) |
T360N |
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 |
|
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 |
|
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'- AACCTCATCTTGCAGTGGCC -3'
(R):5'- TTACCACCGGTTCTGGCTAAG -3'
Sequencing Primer
(F):5'- TCATCTTGCAGTGGCCACCAG -3'
(R):5'- AACATTCTTGTAGTTCTCGAGTGC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation