Incidental Mutation 'IGL02063:Atg2b'
| ID |
185515 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atg2b
|
| Ensembl Gene |
ENSMUSG00000041341 |
| Gene Name |
autophagy related 2B |
| Synonyms |
C030004M05Rik, 2410024A21Rik, C630028L02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.205)
|
| Stock # |
IGL02063
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
105582395-105651470 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105614581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 1117
(Y1117H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041055]
|
| AlphaFold |
Q80XK6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041055
AA Change: Y1117H
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000037441
Gene: ENSMUSG00000041341
AA Change: Y1117H
| 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 |
probably benign
Transcript: ENSMUST00000221015
|
| Coding Region Coverage |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B020004C17Rik |
A |
G |
14: 57,253,480 (GRCm39) |
R24G |
probably damaging |
Het |
| BC005624 |
A |
G |
2: 30,868,946 (GRCm39) |
M76T |
probably benign |
Het |
| Blm |
G |
T |
7: 80,159,167 (GRCm39) |
S323* |
probably null |
Het |
| Card19 |
C |
A |
13: 49,356,607 (GRCm39) |
G181* |
probably null |
Het |
| Cilp2 |
T |
C |
8: 70,335,515 (GRCm39) |
I494M |
probably damaging |
Het |
| Col5a2 |
A |
G |
1: 45,442,579 (GRCm39) |
|
probably null |
Het |
| Col6a4 |
T |
C |
9: 105,934,617 (GRCm39) |
D1431G |
probably benign |
Het |
| Cped1 |
G |
A |
6: 22,138,701 (GRCm39) |
C560Y |
probably damaging |
Het |
| Cyfip1 |
T |
C |
7: 55,576,096 (GRCm39) |
S1091P |
probably damaging |
Het |
| Ddx24 |
A |
G |
12: 103,384,461 (GRCm39) |
I466T |
probably damaging |
Het |
| Dlg2 |
T |
A |
7: 91,459,684 (GRCm39) |
|
probably benign |
Het |
| Esf1 |
C |
A |
2: 140,006,377 (GRCm39) |
D257Y |
possibly damaging |
Het |
| Fgfr2 |
A |
G |
7: 129,769,485 (GRCm39) |
F634S |
probably damaging |
Het |
| Flywch2 |
A |
G |
17: 23,996,081 (GRCm39) |
|
probably benign |
Het |
| Gbp10 |
A |
T |
5: 105,383,906 (GRCm39) |
I32N |
possibly damaging |
Het |
| Gli3 |
A |
G |
13: 15,900,957 (GRCm39) |
D1448G |
possibly damaging |
Het |
| Gm10335 |
T |
C |
10: 14,399,147 (GRCm39) |
|
probably benign |
Het |
| Golga5 |
A |
T |
12: 102,438,418 (GRCm39) |
E44D |
probably benign |
Het |
| H2-M10.1 |
C |
T |
17: 36,634,901 (GRCm39) |
|
probably benign |
Het |
| Ino80b |
A |
T |
6: 83,101,143 (GRCm39) |
D141E |
probably damaging |
Het |
| Itpr3 |
A |
G |
17: 27,338,997 (GRCm39) |
I2593V |
probably benign |
Het |
| Krt73 |
C |
T |
15: 101,704,204 (GRCm39) |
|
probably benign |
Het |
| Loxl4 |
G |
T |
19: 42,596,778 (GRCm39) |
L78I |
probably benign |
Het |
| Mbd5 |
A |
T |
2: 49,164,779 (GRCm39) |
N360I |
probably damaging |
Het |
| Nfat5 |
A |
T |
8: 108,088,450 (GRCm39) |
M495L |
probably benign |
Het |
| Nrxn3 |
A |
T |
12: 88,762,565 (GRCm39) |
E204V |
possibly damaging |
Het |
| Or8k21 |
G |
T |
2: 86,145,137 (GRCm39) |
F164L |
possibly damaging |
Het |
| Paqr4 |
A |
T |
17: 23,958,886 (GRCm39) |
C38* |
probably null |
Het |
| Pcdhb13 |
T |
A |
18: 37,577,282 (GRCm39) |
N553K |
probably damaging |
Het |
| Pcdhb9 |
T |
A |
18: 37,534,810 (GRCm39) |
M268K |
probably benign |
Het |
| Pdap1 |
A |
T |
5: 145,071,869 (GRCm39) |
|
probably benign |
Het |
| Phf2 |
A |
T |
13: 48,975,118 (GRCm39) |
Y281N |
unknown |
Het |
| Phka2 |
T |
A |
X: 159,347,209 (GRCm39) |
I664N |
possibly damaging |
Het |
| Plekha7 |
A |
T |
7: 115,739,936 (GRCm39) |
D762E |
possibly damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,105,884 (GRCm39) |
|
probably benign |
Het |
| Ppfia2 |
A |
T |
10: 106,740,706 (GRCm39) |
Q1006L |
probably null |
Het |
| Pramel12 |
C |
A |
4: 143,144,421 (GRCm39) |
Q256K |
probably benign |
Het |
| Prmt5 |
G |
A |
14: 54,748,477 (GRCm39) |
Q197* |
probably null |
Het |
| Prodh |
A |
T |
16: 17,897,049 (GRCm39) |
|
probably null |
Het |
| Ptgr3 |
T |
A |
18: 84,113,390 (GRCm39) |
Y355* |
probably null |
Het |
| Rnft2 |
A |
G |
5: 118,380,587 (GRCm39) |
|
probably benign |
Het |
| Rp1l1 |
G |
T |
14: 64,266,985 (GRCm39) |
S857I |
probably damaging |
Het |
| Samd9l |
A |
G |
6: 3,372,992 (GRCm39) |
F1423S |
probably damaging |
Het |
| Scn3a |
A |
G |
2: 65,291,854 (GRCm39) |
Y1631H |
probably damaging |
Het |
| Slc22a5 |
A |
T |
11: 53,765,899 (GRCm39) |
I229K |
probably damaging |
Het |
| Slco1a7 |
T |
C |
6: 141,684,615 (GRCm39) |
D280G |
probably benign |
Het |
| Snd1 |
T |
A |
6: 28,526,220 (GRCm39) |
|
probably benign |
Het |
| Srrm1 |
G |
T |
4: 135,074,518 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
C |
12: 76,098,874 (GRCm39) |
V5252A |
probably damaging |
Het |
| Tek |
A |
G |
4: 94,627,882 (GRCm39) |
D2G |
probably benign |
Het |
| Uba1 |
T |
C |
X: 20,545,964 (GRCm39) |
S803P |
probably damaging |
Het |
| Uggt2 |
A |
G |
14: 119,326,605 (GRCm39) |
I202T |
possibly damaging |
Het |
| Umodl1 |
A |
T |
17: 31,206,888 (GRCm39) |
I760F |
probably benign |
Het |
| Vgll1 |
A |
G |
X: 56,144,569 (GRCm39) |
|
probably benign |
Het |
| Zfp236 |
A |
G |
18: 82,676,276 (GRCm39) |
V347A |
probably benign |
Het |
| Zswim9 |
T |
C |
7: 12,994,608 (GRCm39) |
E516G |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation