Incidental Mutation 'R6018:Atg2b'
ID |
478734 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atg2b
|
Ensembl Gene |
ENSMUSG00000041341 |
Gene Name |
autophagy related 2B |
Synonyms |
C030004M05Rik, 2410024A21Rik, C630028L02Rik |
MMRRC Submission |
044192-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.205)
|
Stock # |
R6018 (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 105627430 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 519
(H519R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037441
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041055]
|
AlphaFold |
Q80XK6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041055
AA Change: H519R
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000037441 Gene: ENSMUSG00000041341 AA Change: H519R
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: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.6%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
A |
T |
3: 124,210,448 (GRCm39) |
Y155N |
probably damaging |
Het |
1700019A02Rik |
C |
T |
1: 53,202,405 (GRCm39) |
|
probably null |
Het |
2310022B05Rik |
A |
G |
8: 125,365,853 (GRCm39) |
F297L |
probably benign |
Het |
Acbd3 |
T |
C |
1: 180,579,903 (GRCm39) |
S516P |
possibly damaging |
Het |
Agbl3 |
A |
G |
6: 34,776,190 (GRCm39) |
N227S |
probably damaging |
Het |
Ak6 |
C |
T |
13: 100,802,459 (GRCm39) |
Q151* |
probably null |
Het |
Ano4 |
A |
G |
10: 88,865,128 (GRCm39) |
L297P |
probably benign |
Het |
Anxa5 |
T |
C |
3: 36,504,807 (GRCm39) |
T252A |
probably benign |
Het |
Ap5s1 |
G |
A |
2: 131,054,915 (GRCm39) |
W212* |
probably null |
Het |
Arl9 |
A |
G |
5: 77,155,253 (GRCm39) |
Q113R |
probably damaging |
Het |
Atp1a2 |
A |
G |
1: 172,125,579 (GRCm39) |
|
probably benign |
Het |
Atp2b1 |
G |
A |
10: 98,846,622 (GRCm39) |
A808T |
probably damaging |
Het |
Bckdhb |
C |
A |
9: 83,951,237 (GRCm39) |
T342K |
probably benign |
Het |
Bdp1 |
T |
C |
13: 100,174,732 (GRCm39) |
H1996R |
probably benign |
Het |
Brix1 |
C |
T |
15: 10,476,675 (GRCm39) |
R267H |
probably benign |
Het |
Ccdc180 |
A |
G |
4: 45,926,235 (GRCm39) |
I1148M |
probably damaging |
Het |
Csf3r |
T |
A |
4: 125,937,414 (GRCm39) |
M766K |
probably benign |
Het |
Ctnnd1 |
T |
A |
2: 84,480,812 (GRCm39) |
|
probably benign |
Het |
Cyp2c39 |
A |
T |
19: 39,499,436 (GRCm39) |
N41I |
probably damaging |
Het |
D2hgdh |
G |
T |
1: 93,754,182 (GRCm39) |
V52L |
probably benign |
Het |
Dppa4 |
T |
A |
16: 48,109,490 (GRCm39) |
Y77* |
probably null |
Het |
Eif4enif1 |
T |
C |
11: 3,192,481 (GRCm39) |
S770P |
probably damaging |
Het |
Fbxl16 |
A |
T |
17: 26,036,709 (GRCm39) |
D230V |
probably damaging |
Het |
Gm4847 |
G |
A |
1: 166,471,017 (GRCm39) |
A11V |
probably damaging |
Het |
Gm9978 |
C |
T |
10: 78,322,915 (GRCm39) |
|
noncoding transcript |
Het |
Gpatch8 |
A |
G |
11: 102,371,741 (GRCm39) |
L599P |
unknown |
Het |
Hdac4 |
A |
G |
1: 91,886,120 (GRCm39) |
L254P |
probably damaging |
Het |
Heatr1 |
A |
G |
13: 12,419,828 (GRCm39) |
I384V |
probably benign |
Het |
Heatr1 |
A |
T |
13: 12,420,939 (GRCm39) |
Q410L |
probably benign |
Het |
Hmcn2 |
A |
G |
2: 31,260,804 (GRCm39) |
I1065V |
probably benign |
Het |
Igkv6-14 |
A |
G |
6: 70,412,024 (GRCm39) |
S87P |
probably damaging |
Het |
Il2rb |
G |
T |
15: 78,366,266 (GRCm39) |
Q344K |
possibly damaging |
Het |
Ipo4 |
A |
G |
14: 55,863,609 (GRCm39) |
|
probably null |
Het |
Ipo9 |
A |
G |
1: 135,318,274 (GRCm39) |
|
probably null |
Het |
Khdrbs1 |
T |
C |
4: 129,613,887 (GRCm39) |
T374A |
probably benign |
Het |
Lamc3 |
G |
T |
2: 31,795,724 (GRCm39) |
G370W |
probably damaging |
Het |
Lipn |
T |
A |
19: 34,054,335 (GRCm39) |
L191Q |
probably damaging |
Het |
Lpl |
T |
C |
8: 69,353,940 (GRCm39) |
V427A |
probably benign |
Het |
Magi3 |
T |
C |
3: 104,013,128 (GRCm39) |
S120G |
probably damaging |
Het |
Mgl2 |
T |
C |
11: 70,027,937 (GRCm39) |
*382Q |
probably null |
Het |
Nab2 |
G |
A |
10: 127,500,793 (GRCm39) |
Q100* |
probably null |
Het |
Nfat5 |
T |
A |
8: 108,082,283 (GRCm39) |
|
probably null |
Het |
Nqo1 |
T |
C |
8: 108,115,500 (GRCm39) |
H259R |
probably damaging |
Het |
Nrdc |
T |
A |
4: 108,870,944 (GRCm39) |
D190E |
probably benign |
Het |
Or5m5 |
T |
A |
2: 85,815,148 (GRCm39) |
|
probably benign |
Het |
Osmr |
G |
A |
15: 6,845,276 (GRCm39) |
P830L |
probably damaging |
Het |
Parp14 |
G |
A |
16: 35,661,827 (GRCm39) |
P1403S |
probably benign |
Het |
Pde11a |
T |
A |
2: 75,848,194 (GRCm39) |
M878L |
probably benign |
Het |
Pik3ap1 |
T |
C |
19: 41,373,455 (GRCm39) |
|
probably benign |
Het |
Pla2g3 |
T |
C |
11: 3,441,916 (GRCm39) |
L360P |
probably damaging |
Het |
Plxnc1 |
A |
G |
10: 94,779,710 (GRCm39) |
V244A |
probably benign |
Het |
Pramel16 |
C |
T |
4: 143,677,469 (GRCm39) |
A37T |
possibly damaging |
Het |
Ptpra |
T |
C |
2: 130,345,422 (GRCm39) |
V8A |
probably benign |
Het |
Rbbp5 |
T |
C |
1: 132,422,078 (GRCm39) |
V199A |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rp1 |
A |
G |
1: 4,423,059 (GRCm39) |
V7A |
possibly damaging |
Het |
Sdk2 |
T |
C |
11: 113,720,889 (GRCm39) |
T1347A |
probably benign |
Het |
Sgo2a |
T |
A |
1: 58,056,118 (GRCm39) |
H767Q |
probably benign |
Het |
Sis |
G |
A |
3: 72,820,525 (GRCm39) |
P1413L |
possibly damaging |
Het |
Slc22a5 |
G |
T |
11: 53,766,846 (GRCm39) |
A214E |
probably damaging |
Het |
Snx13 |
G |
T |
12: 35,097,318 (GRCm39) |
|
probably benign |
Het |
Sun5 |
T |
A |
2: 153,700,363 (GRCm39) |
I295F |
probably damaging |
Het |
Themis3 |
C |
T |
17: 66,900,204 (GRCm39) |
A55T |
probably damaging |
Het |
Tmem255b |
T |
C |
8: 13,505,138 (GRCm39) |
Y148H |
probably benign |
Het |
Tmem74b |
A |
G |
2: 151,548,639 (GRCm39) |
E122G |
probably damaging |
Het |
Top3b |
T |
C |
16: 16,710,756 (GRCm39) |
V862A |
probably damaging |
Het |
Trim35 |
A |
T |
14: 66,546,199 (GRCm39) |
D322V |
probably damaging |
Het |
Trpm2 |
A |
G |
10: 77,753,547 (GRCm39) |
F1319S |
probably benign |
Het |
Ttn |
T |
A |
2: 76,785,020 (GRCm39) |
R756S |
probably benign |
Het |
Vmn2r108 |
A |
T |
17: 20,683,268 (GRCm39) |
N645K |
possibly damaging |
Het |
Vmn2r73 |
A |
G |
7: 85,521,875 (GRCm39) |
S155P |
possibly damaging |
Het |
Vstm4 |
G |
A |
14: 32,585,627 (GRCm39) |
A65T |
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 |
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 |
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'- ACCTAAGGTGATCGTGTGAACAAG -3'
(R):5'- TCCTTAGTGAGGTGGACTCTC -3'
Sequencing Primer
(F):5'- ATCGTGTGAACAAGCTTCGGC -3'
(R):5'- CTTCAGGTACAAGAATCCTGCATGG -3'
|
Posted On |
2017-06-26 |