Incidental Mutation 'R4836:Atg2b'
| ID |
373263 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg2b
|
| Ensembl Gene |
ENSMUSG00000041341 |
| Gene Name |
autophagy related 2B |
| Synonyms |
C030004M05Rik, 2410024A21Rik, C630028L02Rik |
| MMRRC Submission |
042451-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.205)
|
| Stock # |
R4836 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
105582395-105651470 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105613073 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 1166
(N1166S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041055]
|
| AlphaFold |
Q80XK6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041055
AA Change: N1166S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000037441
Gene: ENSMUSG00000041341
AA Change: N1166S
| 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: ENSMUST00000157229
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000221015
AA Change: N5S
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.2%
|
| Validation Efficiency |
98% (87/89) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox1 |
A |
T |
11: 116,066,152 (GRCm39) |
S453T |
probably benign |
Het |
| Ahnak2 |
A |
T |
12: 112,740,550 (GRCm39) |
V368D |
probably damaging |
Het |
| Ankrd53 |
A |
T |
6: 83,745,134 (GRCm39) |
Y448F |
probably damaging |
Het |
| Arhgef15 |
A |
T |
11: 68,840,751 (GRCm39) |
|
probably benign |
Het |
| Atl3 |
C |
T |
19: 7,486,910 (GRCm39) |
R77* |
probably null |
Het |
| Bend6 |
T |
C |
1: 33,922,654 (GRCm39) |
|
probably benign |
Het |
| Ccnt1 |
C |
A |
15: 98,465,444 (GRCm39) |
R25L |
probably damaging |
Het |
| Cct4 |
A |
G |
11: 22,952,898 (GRCm39) |
T525A |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,804,579 (GRCm39) |
I835V |
probably damaging |
Het |
| Cimap2 |
T |
A |
4: 106,467,724 (GRCm39) |
|
probably null |
Het |
| Clcn1 |
G |
T |
6: 42,286,898 (GRCm39) |
V652L |
probably damaging |
Het |
| Cntln |
T |
A |
4: 84,967,957 (GRCm39) |
Y725* |
probably null |
Het |
| Cog5 |
T |
C |
12: 31,969,732 (GRCm39) |
F21L |
probably benign |
Het |
| D6Ertd527e |
GGCAGCAGCAGCA |
GGCAGCAGCAGCAGCA |
6: 87,088,406 (GRCm39) |
|
probably benign |
Het |
| Dnm2 |
A |
T |
9: 21,402,626 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
C |
T |
9: 20,819,854 (GRCm39) |
V1430I |
probably damaging |
Het |
| Dpep1 |
A |
G |
8: 123,927,106 (GRCm39) |
D285G |
probably damaging |
Het |
| Eef2kmt |
C |
T |
16: 5,066,867 (GRCm39) |
V129M |
probably damaging |
Het |
| Epha3 |
A |
T |
16: 63,403,920 (GRCm39) |
M726K |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 16,289,019 (GRCm39) |
L168P |
probably damaging |
Het |
| Frem3 |
T |
A |
8: 81,390,026 (GRCm39) |
F1759Y |
probably damaging |
Het |
| Fubp3 |
T |
A |
2: 31,498,153 (GRCm39) |
S56R |
possibly damaging |
Het |
| Gm1965 |
T |
C |
6: 89,122,392 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5592 |
C |
T |
7: 40,864,958 (GRCm39) |
|
probably benign |
Het |
| H1f9 |
T |
A |
11: 94,858,843 (GRCm39) |
L46* |
probably null |
Het |
| Irs1 |
TGGGGTGGACATCGAACTGAAGGAG |
TG |
1: 82,265,453 (GRCm39) |
913 |
probably null |
Het |
| Isl1 |
A |
G |
13: 116,439,619 (GRCm39) |
M243T |
probably benign |
Het |
| Itpr1 |
A |
T |
6: 108,366,498 (GRCm39) |
I142F |
probably damaging |
Het |
| Jak1 |
T |
C |
4: 101,012,263 (GRCm39) |
T1069A |
probably damaging |
Het |
| Jmjd1c |
T |
C |
10: 67,069,225 (GRCm39) |
V1848A |
probably benign |
Het |
| Kdm5a |
T |
C |
6: 120,389,363 (GRCm39) |
V930A |
probably damaging |
Het |
| Kdm5b |
C |
A |
1: 134,521,053 (GRCm39) |
|
probably null |
Het |
| Lilra5 |
T |
C |
7: 4,241,713 (GRCm39) |
F171L |
possibly damaging |
Het |
| Map1b |
A |
G |
13: 99,567,562 (GRCm39) |
S1720P |
unknown |
Het |
| Mcpt1 |
A |
T |
14: 56,257,017 (GRCm39) |
Q185L |
probably damaging |
Het |
| Mmp20 |
T |
A |
9: 7,644,027 (GRCm39) |
D238E |
possibly damaging |
Het |
| Mov10l1 |
A |
T |
15: 88,904,472 (GRCm39) |
I784F |
possibly damaging |
Het |
| Mroh2b |
C |
T |
15: 4,933,752 (GRCm39) |
P101S |
probably damaging |
Het |
| Myh3 |
G |
T |
11: 66,987,765 (GRCm39) |
A1413S |
probably benign |
Het |
| Naa80 |
A |
T |
9: 107,460,738 (GRCm39) |
Y211F |
probably damaging |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Or12j4 |
A |
G |
7: 140,046,989 (GRCm39) |
R292G |
probably damaging |
Het |
| Or2t48 |
A |
C |
11: 58,420,308 (GRCm39) |
M168R |
probably damaging |
Het |
| Or4a66 |
A |
G |
2: 88,531,544 (GRCm39) |
I43T |
probably damaging |
Het |
| Or5g9 |
A |
G |
2: 85,551,793 (GRCm39) |
I15V |
probably benign |
Het |
| Or8k22 |
A |
T |
2: 86,163,571 (GRCm39) |
M43K |
probably benign |
Het |
| Or8k23 |
G |
A |
2: 86,186,094 (GRCm39) |
L211F |
probably benign |
Het |
| Palld |
T |
A |
8: 62,140,415 (GRCm39) |
T531S |
probably benign |
Het |
| Parp4 |
A |
G |
14: 56,823,195 (GRCm39) |
E105G |
probably benign |
Het |
| Phf11a |
A |
T |
14: 59,525,028 (GRCm39) |
S59T |
probably damaging |
Het |
| Ppp1r12b |
G |
T |
1: 134,883,471 (GRCm39) |
A17E |
probably benign |
Het |
| Rad50 |
A |
T |
11: 53,541,480 (GRCm39) |
I1252N |
probably damaging |
Het |
| Ramp3 |
A |
G |
11: 6,624,761 (GRCm39) |
|
probably null |
Het |
| Rrbp1 |
G |
A |
2: 143,830,337 (GRCm39) |
T610I |
possibly damaging |
Het |
| Scart2 |
T |
C |
7: 139,879,021 (GRCm39) |
I1051T |
probably benign |
Het |
| Semp2l2a |
C |
T |
8: 13,888,007 (GRCm39) |
S28N |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,098,531 (GRCm39) |
Y555C |
probably damaging |
Het |
| Slc5a2 |
A |
G |
7: 127,866,677 (GRCm39) |
|
probably null |
Het |
| Smoc1 |
T |
A |
12: 81,226,322 (GRCm39) |
D371E |
probably damaging |
Het |
| Stmn1 |
T |
A |
4: 134,197,495 (GRCm39) |
|
probably benign |
Het |
| Sulf1 |
C |
T |
1: 12,912,910 (GRCm39) |
L715F |
probably benign |
Het |
| Surf1 |
T |
C |
2: 26,804,255 (GRCm39) |
T180A |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,026,593 (GRCm39) |
I3474V |
probably damaging |
Het |
| Tchh |
A |
T |
3: 93,352,455 (GRCm39) |
R632W |
unknown |
Het |
| Tchh |
A |
T |
3: 93,354,895 (GRCm39) |
D1445V |
unknown |
Het |
| Tctn1 |
A |
T |
5: 122,383,568 (GRCm39) |
M505K |
probably benign |
Het |
| Tdrkh |
T |
A |
3: 94,332,897 (GRCm39) |
I150N |
probably damaging |
Het |
| Tespa1 |
C |
T |
10: 130,198,028 (GRCm39) |
T350I |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,945,499 (GRCm39) |
Y326C |
possibly damaging |
Het |
| Tmem208 |
C |
T |
8: 106,055,296 (GRCm39) |
S119F |
probably damaging |
Het |
| Tmprss6 |
G |
C |
15: 78,329,588 (GRCm39) |
A91G |
probably damaging |
Het |
| Trp53bp2 |
C |
T |
1: 182,259,147 (GRCm39) |
R67W |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,541,541 (GRCm39) |
I25488T |
possibly damaging |
Het |
| Txnl4a |
A |
G |
18: 80,265,468 (GRCm39) |
E111G |
probably damaging |
Het |
| Unc13b |
T |
G |
4: 43,237,137 (GRCm39) |
I3402M |
probably damaging |
Het |
| Vmn1r188 |
A |
C |
13: 22,272,291 (GRCm39) |
I82L |
probably benign |
Het |
| Zfp65 |
A |
G |
13: 67,856,994 (GRCm39) |
V95A |
probably benign |
Het |
| Zfp985 |
T |
A |
4: 147,668,612 (GRCm39) |
S493R |
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 |
|
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 |
|
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'- GTAGAGTGGCTCCTTTCAGC -3'
(R):5'- CCTGCACAGAGAGTTTCGTTG -3'
Sequencing Primer
(F):5'- AGGAACTCCTGCGCCACAG -3'
(R):5'- CGTTGTGAGTTGTGAAAGTCCAAAC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation