Incidental Mutation 'R9402:Atg2b'
| ID |
711304 |
| 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 # |
R9402 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
105582395-105651470 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105614682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 1083
(F1083S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041055]
|
| AlphaFold |
Q80XK6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041055
AA Change: F1083S
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000037441
Gene: ENSMUSG00000041341
AA Change: F1083S
| 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 |
probably benign
Transcript: ENSMUST00000221015
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
A |
11: 110,049,154 (GRCm39) |
Q218L |
probably benign |
Het |
| Bche |
T |
C |
3: 73,608,656 (GRCm39) |
N257D |
probably benign |
Het |
| Cfap221 |
T |
A |
1: 119,860,551 (GRCm39) |
M692L |
probably benign |
Het |
| Cfap46 |
G |
T |
7: 139,215,865 (GRCm39) |
P1530Q |
unknown |
Het |
| Crim1 |
CCGC |
CC |
17: 78,658,294 (GRCm39) |
|
probably null |
Het |
| Cyp4f39 |
T |
C |
17: 32,710,183 (GRCm39) |
|
probably null |
Het |
| Daam1 |
A |
G |
12: 72,006,604 (GRCm39) |
T674A |
probably benign |
Het |
| Elp2 |
A |
T |
18: 24,759,220 (GRCm39) |
I526L |
probably benign |
Het |
| Exoc4 |
T |
A |
6: 33,453,078 (GRCm39) |
*523K |
probably null |
Het |
| Fbxl7 |
G |
A |
15: 26,552,589 (GRCm39) |
S226L |
probably damaging |
Het |
| Fbxl9 |
T |
A |
8: 106,049,988 (GRCm39) |
Y12F |
probably benign |
Het |
| Fry |
G |
A |
5: 150,357,161 (GRCm39) |
E1903K |
possibly damaging |
Het |
| Fry |
G |
A |
5: 150,360,318 (GRCm39) |
R1988K |
probably damaging |
Het |
| Gas1 |
A |
T |
13: 60,324,016 (GRCm39) |
M206K |
probably damaging |
Het |
| Gbp10 |
T |
A |
5: 105,381,863 (GRCm39) |
T96S |
possibly damaging |
Het |
| Gm14569 |
G |
A |
X: 35,694,549 (GRCm39) |
P1387S |
probably damaging |
Het |
| Gpaa1 |
A |
G |
15: 76,216,418 (GRCm39) |
T105A |
probably benign |
Het |
| Hoxc13 |
C |
A |
15: 102,830,051 (GRCm39) |
C143* |
probably null |
Het |
| Htt |
T |
C |
5: 35,006,324 (GRCm39) |
I1411T |
probably damaging |
Het |
| Inava |
T |
G |
1: 136,155,348 (GRCm39) |
S86R |
probably benign |
Het |
| Jmy |
C |
T |
13: 93,635,678 (GRCm39) |
C46Y |
probably damaging |
Het |
| Klhl40 |
A |
G |
9: 121,609,482 (GRCm39) |
Y453C |
possibly damaging |
Het |
| Krit1 |
T |
A |
5: 3,872,210 (GRCm39) |
Y460N |
possibly damaging |
Het |
| Lamb3 |
C |
A |
1: 193,013,704 (GRCm39) |
T526K |
|
Het |
| Luzp1 |
T |
A |
4: 136,270,493 (GRCm39) |
H905Q |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,812,463 (GRCm39) |
H958Q |
probably benign |
Het |
| Magi1 |
T |
C |
6: 94,260,278 (GRCm39) |
N9S |
probably benign |
Het |
| Mmadhc |
A |
T |
2: 50,171,119 (GRCm39) |
V231E |
probably benign |
Het |
| Muc5b |
T |
A |
7: 141,399,151 (GRCm39) |
M364K |
unknown |
Het |
| Nae1 |
A |
G |
8: 105,254,817 (GRCm39) |
|
probably null |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Nlgn2 |
A |
G |
11: 69,718,933 (GRCm39) |
F252S |
|
Het |
| Nlrp9a |
A |
T |
7: 26,270,030 (GRCm39) |
N874I |
possibly damaging |
Het |
| Nodal |
T |
C |
10: 61,259,379 (GRCm39) |
I272T |
probably damaging |
Het |
| Or4a15 |
C |
A |
2: 89,193,123 (GRCm39) |
G217* |
probably null |
Het |
| Or4c12 |
A |
T |
2: 89,774,284 (GRCm39) |
Y58* |
probably null |
Het |
| Or51a24 |
G |
A |
7: 103,733,610 (GRCm39) |
R226* |
probably null |
Het |
| Or52ab4 |
T |
C |
7: 102,988,196 (GRCm39) |
S312P |
probably benign |
Het |
| Orm1 |
C |
A |
4: 63,263,369 (GRCm39) |
Q61K |
possibly damaging |
Het |
| Pcdh17 |
T |
C |
14: 84,684,646 (GRCm39) |
V371A |
probably damaging |
Het |
| Pcdhb19 |
C |
T |
18: 37,632,532 (GRCm39) |
Q776* |
probably null |
Het |
| Phf14 |
A |
G |
6: 11,933,779 (GRCm39) |
R214G |
possibly damaging |
Het |
| Phf3 |
G |
A |
1: 30,850,928 (GRCm39) |
T1142M |
probably damaging |
Het |
| Pigz |
A |
G |
16: 31,764,187 (GRCm39) |
E415G |
probably damaging |
Het |
| Pramel5 |
T |
C |
4: 143,998,026 (GRCm39) |
T406A |
probably benign |
Het |
| Prtg |
A |
G |
9: 72,819,253 (GRCm39) |
E1082G |
probably benign |
Het |
| Rtp3 |
A |
G |
9: 110,815,031 (GRCm39) |
C445R |
unknown |
Het |
| Scn3b |
A |
T |
9: 40,193,852 (GRCm39) |
E193V |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,510,456 (GRCm39) |
N1315K |
probably damaging |
Het |
| Snx14 |
C |
T |
9: 88,289,490 (GRCm39) |
G254D |
probably damaging |
Het |
| Srbd1 |
T |
C |
17: 86,406,705 (GRCm39) |
D560G |
probably benign |
Het |
| Srp72 |
T |
A |
5: 77,124,329 (GRCm39) |
L65* |
probably null |
Het |
| Steap1 |
T |
A |
5: 5,790,664 (GRCm39) |
I95F |
|
Het |
| Taf3 |
A |
G |
2: 9,955,923 (GRCm39) |
|
probably null |
Het |
| Taok2 |
T |
C |
7: 126,469,400 (GRCm39) |
N1143D |
|
Het |
| Tas2r114 |
C |
T |
6: 131,666,894 (GRCm39) |
G45S |
possibly damaging |
Het |
| Tcerg1l |
T |
C |
7: 137,811,551 (GRCm39) |
K548E |
probably damaging |
Het |
| Tcp1 |
T |
A |
17: 13,141,505 (GRCm39) |
L328Q |
probably benign |
Het |
| Tns2 |
A |
G |
15: 102,021,623 (GRCm39) |
H1096R |
probably damaging |
Het |
| Trps1 |
A |
T |
15: 50,709,652 (GRCm39) |
Y233N |
probably damaging |
Het |
| Tubgcp6 |
A |
G |
15: 88,987,064 (GRCm39) |
V1303A |
probably benign |
Het |
| Ugt1a2 |
T |
C |
1: 88,128,684 (GRCm39) |
F109S |
possibly damaging |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Zfp748 |
A |
G |
13: 67,693,511 (GRCm39) |
V54A |
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 |
|
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 |
|
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'- TGTCCTTAACAGATAGGAAATTCACTC -3'
(R):5'- GTCAGAATGAGCATGCCAAGAC -3'
Sequencing Primer
(F):5'- TTCACTCGCCAAACAGAGGAG -3'
(R):5'- TGAGCATGCCAAGACACATTCTTTC -3'
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| Posted On |
2022-05-16 |
Incidental Mutation