Incidental Mutation 'R5007:Atg2b'
| ID |
390237 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg2b
|
| Ensembl Gene |
ENSMUSG00000041341 |
| Gene Name |
autophagy related 2B |
| Synonyms |
C030004M05Rik, 2410024A21Rik, C630028L02Rik |
| MMRRC Submission |
042598-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.205)
|
| Stock # |
R5007 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
105582395-105651470 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 105610135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041055]
|
| AlphaFold |
Q80XK6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041055
|
| SMART Domains |
Protein: ENSMUSP00000037441
Gene: ENSMUSG00000041341
| 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 null
Transcript: ENSMUST00000221015
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.6%
|
| Validation Efficiency |
99% (89/90) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
C |
G |
7: 27,278,192 (GRCm39) |
T242R |
probably damaging |
Het |
| Abca8b |
T |
C |
11: 109,827,590 (GRCm39) |
T1473A |
probably damaging |
Het |
| Adam22 |
T |
C |
5: 8,217,393 (GRCm39) |
Y134C |
probably damaging |
Het |
| Alg9 |
T |
A |
9: 50,699,524 (GRCm39) |
M183K |
probably damaging |
Het |
| Ambra1 |
T |
C |
2: 91,602,655 (GRCm39) |
I213T |
possibly damaging |
Het |
| Ankrd55 |
T |
A |
13: 112,504,466 (GRCm39) |
V376D |
probably benign |
Het |
| Ano4 |
A |
C |
10: 88,948,807 (GRCm39) |
V166G |
probably benign |
Het |
| Aox3 |
T |
A |
1: 58,202,583 (GRCm39) |
C730S |
probably benign |
Het |
| Apc |
T |
A |
18: 34,446,016 (GRCm39) |
Y953N |
probably damaging |
Het |
| Ass1 |
T |
C |
2: 31,391,544 (GRCm39) |
F273S |
possibly damaging |
Het |
| B3gnt9 |
A |
G |
8: 105,981,122 (GRCm39) |
Y89H |
probably damaging |
Het |
| Cd38 |
T |
G |
5: 44,063,506 (GRCm39) |
F200V |
probably damaging |
Het |
| Cep170 |
G |
T |
1: 176,597,380 (GRCm39) |
R388S |
probably benign |
Het |
| Col22a1 |
A |
T |
15: 71,816,271 (GRCm39) |
D614E |
probably damaging |
Het |
| Crybg3 |
C |
A |
16: 59,378,463 (GRCm39) |
|
probably benign |
Het |
| Ctdp1 |
A |
T |
18: 80,463,695 (GRCm39) |
S114T |
probably damaging |
Het |
| Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
| Dmtf1 |
T |
C |
5: 9,172,439 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,362,283 (GRCm39) |
V3715M |
probably damaging |
Het |
| Dok1 |
A |
T |
6: 83,009,297 (GRCm39) |
L185H |
probably damaging |
Het |
| Dpep1 |
T |
C |
8: 123,926,117 (GRCm39) |
V152A |
probably damaging |
Het |
| Eif2ak1 |
G |
T |
5: 143,810,698 (GRCm39) |
R136L |
probably benign |
Het |
| Eml5 |
A |
T |
12: 98,797,224 (GRCm39) |
S1063T |
probably damaging |
Het |
| Fam171b |
T |
A |
2: 83,685,853 (GRCm39) |
L179* |
probably null |
Het |
| Flot1 |
G |
T |
17: 36,135,267 (GRCm39) |
|
probably benign |
Het |
| Fmn2 |
A |
T |
1: 174,571,866 (GRCm39) |
H1491L |
probably damaging |
Het |
| Frem1 |
C |
T |
4: 82,859,049 (GRCm39) |
|
probably benign |
Het |
| Gdf2 |
A |
G |
14: 33,666,863 (GRCm39) |
D195G |
probably benign |
Het |
| Golga4 |
T |
G |
9: 118,387,368 (GRCm39) |
C1497G |
probably benign |
Het |
| Gpaa1 |
T |
A |
15: 76,215,868 (GRCm39) |
C33* |
probably null |
Het |
| Hectd1 |
A |
T |
12: 51,849,443 (GRCm39) |
C254S |
possibly damaging |
Het |
| Hspa1b |
C |
T |
17: 35,177,086 (GRCm39) |
A300T |
probably benign |
Het |
| Igf2bp2 |
A |
G |
16: 21,898,246 (GRCm39) |
I233T |
probably damaging |
Het |
| Iqce |
C |
A |
5: 140,661,003 (GRCm39) |
A491S |
possibly damaging |
Het |
| Irak3 |
A |
G |
10: 119,982,334 (GRCm39) |
|
probably null |
Het |
| Kcnip1 |
T |
A |
11: 33,592,495 (GRCm39) |
H124L |
probably benign |
Het |
| Klhdc10 |
G |
A |
6: 30,450,640 (GRCm39) |
R393Q |
probably benign |
Het |
| Klhl28 |
C |
T |
12: 65,004,001 (GRCm39) |
E171K |
probably damaging |
Het |
| Map2 |
T |
C |
1: 66,452,448 (GRCm39) |
V288A |
possibly damaging |
Het |
| Mdp1 |
C |
T |
14: 55,896,683 (GRCm39) |
R126Q |
probably damaging |
Het |
| Meltf |
A |
G |
16: 31,706,380 (GRCm39) |
D288G |
possibly damaging |
Het |
| Mgat4e |
T |
A |
1: 134,468,890 (GRCm39) |
I385F |
probably benign |
Het |
| Mical3 |
A |
C |
6: 121,015,030 (GRCm39) |
V211G |
probably damaging |
Het |
| Mlh1 |
A |
G |
9: 111,100,478 (GRCm39) |
*39R |
probably null |
Het |
| Mre11a |
A |
G |
9: 14,721,116 (GRCm39) |
D345G |
probably benign |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
| Nat1 |
T |
G |
8: 67,944,077 (GRCm39) |
L154R |
probably benign |
Het |
| Nlrp4a |
A |
G |
7: 26,161,905 (GRCm39) |
D851G |
probably damaging |
Het |
| Npas4 |
A |
C |
19: 5,039,684 (GRCm39) |
V54G |
possibly damaging |
Het |
| Or13n4 |
T |
C |
7: 106,423,364 (GRCm39) |
Y123C |
probably damaging |
Het |
| Pcbp4 |
G |
A |
9: 106,339,292 (GRCm39) |
G100R |
probably damaging |
Het |
| Pcdh17 |
A |
G |
14: 84,770,737 (GRCm39) |
T1072A |
probably benign |
Het |
| Pcdh18 |
T |
C |
3: 49,708,906 (GRCm39) |
N803S |
probably benign |
Het |
| Ppat |
C |
T |
5: 77,076,525 (GRCm39) |
|
probably benign |
Het |
| Ppm1l |
T |
A |
3: 69,224,931 (GRCm39) |
L11Q |
probably damaging |
Het |
| Pram1 |
T |
A |
17: 33,864,411 (GRCm39) |
V658E |
probably damaging |
Het |
| Prr12 |
C |
T |
7: 44,699,225 (GRCm39) |
|
probably benign |
Het |
| Prxl2b |
A |
G |
4: 154,981,531 (GRCm39) |
|
probably null |
Het |
| Ptprq |
A |
G |
10: 107,444,137 (GRCm39) |
V1489A |
probably benign |
Het |
| Ryr1 |
T |
A |
7: 28,768,540 (GRCm39) |
I2817F |
probably damaging |
Het |
| Sall2 |
A |
G |
14: 52,551,950 (GRCm39) |
L413P |
probably damaging |
Het |
| Slc7a9 |
T |
A |
7: 35,153,554 (GRCm39) |
M185K |
probably benign |
Het |
| Stag2 |
C |
T |
X: 41,355,130 (GRCm39) |
H1149Y |
possibly damaging |
Het |
| Timm10b |
T |
A |
7: 105,290,298 (GRCm39) |
Y64N |
probably damaging |
Het |
| Tmem30c |
T |
C |
16: 57,086,868 (GRCm39) |
T312A |
probably benign |
Het |
| Tmem9b |
G |
T |
7: 109,344,550 (GRCm39) |
C17* |
probably null |
Het |
| Vmn2r68 |
C |
A |
7: 84,881,622 (GRCm39) |
R486L |
probably benign |
Het |
| Xkr9 |
T |
A |
1: 13,771,387 (GRCm39) |
I301N |
probably damaging |
Het |
| Xpo7 |
T |
C |
14: 70,925,704 (GRCm39) |
Q446R |
probably damaging |
Het |
| Ythdf3 |
T |
C |
3: 16,259,362 (GRCm39) |
V503A |
possibly damaging |
Het |
| Zfp280b |
T |
A |
10: 75,875,048 (GRCm39) |
V309D |
probably damaging |
Het |
| Zfp53 |
T |
A |
17: 21,729,772 (GRCm39) |
C602S |
probably benign |
Het |
| Zfp616 |
A |
T |
11: 73,974,643 (GRCm39) |
N395I |
possibly damaging |
Het |
| Zfp644 |
T |
C |
5: 106,783,867 (GRCm39) |
I862M |
probably benign |
Het |
| Zfp715 |
T |
C |
7: 42,949,019 (GRCm39) |
T314A |
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 |
|
|
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'- AGAGTCACCAAGTCCTCTCC -3'
(R):5'- CTCTTGTAGCTAAAATTGTGTGAGG -3'
Sequencing Primer
(F):5'- TCCAGTTCCAGGGGTCTAACATG -3'
(R):5'- TGTGTGAGGTATCAGATGAAGTCAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation