Incidental Mutation 'R9717:Atg2b'
| ID |
730557 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg2b
|
| Ensembl Gene |
ENSMUSG00000041341 |
| Gene Name |
autophagy related 2B |
| Synonyms |
C030004M05Rik, 2410024A21Rik, C630028L02Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
R9717 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
105582395-105651470 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105605561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1468
(Y1468C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041055]
|
| AlphaFold |
Q80XK6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041055
AA Change: Y1468C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000037441
Gene: ENSMUSG00000041341
AA Change: Y1468C
| 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: 99.0%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
A |
13: 81,668,900 (GRCm39) |
N2552I |
probably damaging |
Het |
| Amph |
G |
T |
13: 19,309,253 (GRCm39) |
A444S |
probably benign |
Het |
| Ankrd52 |
A |
G |
10: 128,216,457 (GRCm39) |
N157S |
probably benign |
Het |
| Arhgap29 |
T |
C |
3: 121,797,920 (GRCm39) |
F537L |
probably benign |
Het |
| Asic1 |
A |
C |
15: 99,590,657 (GRCm39) |
T136P |
probably damaging |
Het |
| Atm |
A |
G |
9: 53,427,817 (GRCm39) |
L431P |
probably damaging |
Het |
| Atosb |
T |
C |
4: 43,036,050 (GRCm39) |
H227R |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,922,646 (GRCm39) |
T17A |
probably benign |
Het |
| Car10 |
A |
G |
11: 93,195,367 (GRCm39) |
N58S |
probably benign |
Het |
| Cd79b |
A |
T |
11: 106,202,845 (GRCm39) |
D252E |
probably damaging |
Het |
| Cdipt |
C |
T |
7: 126,576,202 (GRCm39) |
|
probably benign |
Het |
| Cebpe |
T |
C |
14: 54,949,165 (GRCm39) |
D84G |
probably damaging |
Het |
| Cenpj |
T |
C |
14: 56,790,453 (GRCm39) |
E532G |
probably benign |
Het |
| Cherp |
A |
G |
8: 73,216,920 (GRCm39) |
|
probably null |
Het |
| Chuk |
T |
C |
19: 44,071,109 (GRCm39) |
D532G |
possibly damaging |
Het |
| Clec1b |
C |
T |
6: 129,374,603 (GRCm39) |
T9I |
probably benign |
Het |
| Clspn |
G |
T |
4: 126,458,756 (GRCm39) |
A280S |
possibly damaging |
Het |
| Cts3 |
T |
G |
13: 61,712,799 (GRCm39) |
Y307S |
probably benign |
Het |
| Cyp2c39 |
T |
C |
19: 39,556,493 (GRCm39) |
M443T |
possibly damaging |
Het |
| Dhx57 |
C |
T |
17: 80,582,447 (GRCm39) |
R386H |
probably damaging |
Het |
| Dhx58 |
A |
T |
11: 100,592,133 (GRCm39) |
M305K |
probably benign |
Het |
| Dlgap3 |
T |
C |
4: 127,129,287 (GRCm39) |
L894P |
probably damaging |
Het |
| Dnah3 |
A |
T |
7: 119,574,299 (GRCm39) |
N2164K |
probably damaging |
Het |
| Dnajb14 |
A |
G |
3: 137,608,044 (GRCm39) |
N183S |
probably benign |
Het |
| Drd5 |
G |
T |
5: 38,478,090 (GRCm39) |
R361L |
probably damaging |
Het |
| Duoxa1 |
T |
C |
2: 122,135,622 (GRCm39) |
E159G |
probably damaging |
Het |
| Exoc1 |
T |
A |
5: 76,711,079 (GRCm39) |
S659R |
probably benign |
Het |
| Fbln7 |
T |
C |
2: 128,719,314 (GRCm39) |
I37T |
probably benign |
Het |
| Fcgrt |
T |
G |
7: 44,744,853 (GRCm39) |
E205A |
possibly damaging |
Het |
| Fcho2 |
A |
T |
13: 98,900,202 (GRCm39) |
S304T |
probably damaging |
Het |
| Gbp9 |
C |
A |
5: 105,253,587 (GRCm39) |
G43* |
probably null |
Het |
| Gucy2d |
A |
G |
7: 98,123,868 (GRCm39) |
K151R |
probably benign |
Het |
| Heatr4 |
T |
A |
12: 84,024,829 (GRCm39) |
I331F |
probably damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,485,378 (GRCm39) |
T4408I |
probably damaging |
Het |
| Hoxc9 |
C |
T |
15: 102,890,551 (GRCm39) |
T156M |
probably benign |
Het |
| Hrnr |
A |
T |
3: 93,227,987 (GRCm39) |
E35V |
probably damaging |
Het |
| Idua |
C |
T |
5: 108,818,037 (GRCm39) |
Q70* |
probably null |
Het |
| Klf5 |
A |
T |
14: 99,539,189 (GRCm39) |
I201F |
probably damaging |
Het |
| Lonrf1 |
T |
C |
8: 36,701,164 (GRCm39) |
K349E |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,158,395 (GRCm39) |
D1721E |
|
Het |
| Mdh1 |
T |
A |
11: 21,521,870 (GRCm39) |
|
probably benign |
Het |
| Mllt11 |
T |
C |
3: 95,127,521 (GRCm39) |
H83R |
probably benign |
Het |
| Mrgprb4 |
A |
C |
7: 47,848,583 (GRCm39) |
I115S |
possibly damaging |
Het |
| Mrpl38 |
A |
G |
11: 116,023,296 (GRCm39) |
F319S |
probably damaging |
Het |
| Naif1 |
A |
T |
2: 32,344,907 (GRCm39) |
M204L |
probably benign |
Het |
| Ncan |
T |
A |
8: 70,554,628 (GRCm39) |
D1063V |
probably damaging |
Het |
| Noto |
A |
T |
6: 85,401,327 (GRCm39) |
R119W |
possibly damaging |
Het |
| Or4c115 |
G |
A |
2: 88,927,573 (GRCm39) |
L233F |
probably benign |
Het |
| Or51h7 |
A |
T |
7: 102,591,165 (GRCm39) |
D206E |
probably damaging |
Het |
| Or6c69 |
T |
A |
10: 129,748,048 (GRCm39) |
Y33F |
probably damaging |
Het |
| Or8b3 |
A |
T |
9: 38,314,841 (GRCm39) |
I224F |
probably damaging |
Het |
| Ovch2 |
A |
G |
7: 107,393,584 (GRCm39) |
W181R |
probably damaging |
Het |
| Palm |
G |
C |
10: 79,655,117 (GRCm39) |
G292R |
probably damaging |
Het |
| Pdgfrb |
T |
A |
18: 61,205,787 (GRCm39) |
L591* |
probably null |
Het |
| Pik3c2g |
T |
C |
6: 139,841,910 (GRCm39) |
S772P |
|
Het |
| Prx |
C |
A |
7: 27,217,411 (GRCm39) |
D776E |
probably benign |
Het |
| Ptpra |
A |
G |
2: 130,384,366 (GRCm39) |
E562G |
possibly damaging |
Het |
| Rbm4b |
A |
G |
19: 4,807,359 (GRCm39) |
Y25C |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,136,427 (GRCm39) |
T2534A |
probably benign |
Het |
| Rnf123 |
T |
C |
9: 107,954,963 (GRCm39) |
S14G |
probably benign |
Het |
| Rock2 |
A |
G |
12: 17,015,602 (GRCm39) |
H833R |
probably benign |
Het |
| Rxfp3 |
A |
G |
15: 11,037,111 (GRCm39) |
V87A |
possibly damaging |
Het |
| S100b |
G |
A |
10: 76,092,936 (GRCm39) |
G23D |
probably damaging |
Het |
| Scn9a |
T |
A |
2: 66,357,002 (GRCm39) |
M1100L |
probably benign |
Het |
| Septin11 |
T |
A |
5: 93,296,266 (GRCm39) |
S55T |
possibly damaging |
Het |
| Speer4a3 |
T |
C |
5: 26,154,829 (GRCm39) |
E257G |
probably damaging |
Het |
| Sv2b |
T |
A |
7: 74,769,676 (GRCm39) |
Q622L |
probably benign |
Het |
| Taar7a |
T |
C |
10: 23,868,799 (GRCm39) |
D194G |
probably benign |
Het |
| Trappc3 |
T |
C |
4: 126,169,014 (GRCm39) |
I168T |
probably benign |
Het |
| Trim27 |
T |
C |
13: 21,374,296 (GRCm39) |
|
probably null |
Het |
| Wdr49 |
G |
A |
3: 75,304,359 (GRCm39) |
T109I |
probably benign |
Het |
| Wdr64 |
T |
C |
1: 175,544,854 (GRCm39) |
Y96H |
probably damaging |
Het |
| Zfp219 |
A |
T |
14: 52,247,049 (GRCm39) |
L26Q |
probably damaging |
Het |
| Zfp758 |
T |
A |
17: 22,593,829 (GRCm39) |
V105D |
possibly damaging |
Het |
| Zfp975 |
C |
G |
7: 42,312,332 (GRCm39) |
E94Q |
possibly damaging |
Het |
| Zfyve9 |
C |
T |
4: 108,539,334 (GRCm39) |
A289T |
probably benign |
Het |
| Zscan5b |
T |
C |
7: 6,234,525 (GRCm39) |
S184P |
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 |
|
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 |
|
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 |
|
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'- CGTGCAAGAAACTGTGCAAG -3'
(R):5'- CTGCCTGTGGTTAAGAGACC -3'
Sequencing Primer
(F):5'- ATCGCTGACCCACGTGTTG -3'
(R):5'- AAGAGACCTTTGTCGGTGGC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation