Incidental Mutation 'R7634:Atg2b'
| ID |
589826 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg2b
|
| Ensembl Gene |
ENSMUSG00000041341 |
| Gene Name |
autophagy related 2B |
| Synonyms |
C030004M05Rik, 2410024A21Rik, C630028L02Rik |
| MMRRC Submission |
045693-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.205)
|
| Stock # |
R7634 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
105582395-105651470 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105618379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 891
(D891G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041055]
|
| AlphaFold |
Q80XK6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041055
AA Change: D891G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037441
Gene: ENSMUSG00000041341
AA Change: D891G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (58/58) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
A |
T |
8: 60,969,102 (GRCm39) |
M116L |
probably benign |
Het |
| Adam25 |
A |
G |
8: 41,207,883 (GRCm39) |
D383G |
probably benign |
Het |
| Adam26b |
T |
A |
8: 43,974,034 (GRCm39) |
M323L |
probably benign |
Het |
| Adgrf3 |
T |
C |
5: 30,407,245 (GRCm39) |
H227R |
probably benign |
Het |
| Antxr1 |
G |
A |
6: 87,114,273 (GRCm39) |
T498I |
probably benign |
Het |
| Arg1 |
T |
A |
10: 24,791,627 (GRCm39) |
T285S |
possibly damaging |
Het |
| Arhgdig |
T |
C |
17: 26,418,365 (GRCm39) |
D206G |
probably damaging |
Het |
| Asb10 |
C |
A |
5: 24,745,875 (GRCm39) |
C17F |
possibly damaging |
Het |
| Cacna1h |
A |
T |
17: 25,611,083 (GRCm39) |
S572T |
possibly damaging |
Het |
| Cenpj |
T |
C |
14: 56,780,257 (GRCm39) |
T985A |
probably benign |
Het |
| Cfap65 |
G |
T |
1: 74,941,593 (GRCm39) |
N1780K |
probably damaging |
Het |
| Cyp26c1 |
T |
C |
19: 37,681,447 (GRCm39) |
Y417H |
probably damaging |
Het |
| Dnajb13 |
G |
T |
7: 100,152,393 (GRCm39) |
Q308K |
probably benign |
Het |
| Fam107b |
T |
C |
2: 3,771,777 (GRCm39) |
S3P |
possibly damaging |
Het |
| Gm3127 |
A |
G |
14: 15,425,787 (GRCm39) |
N64S |
probably damaging |
Het |
| Gm4847 |
A |
C |
1: 166,460,249 (GRCm39) |
N412K |
probably benign |
Het |
| Gtf3c3 |
A |
T |
1: 54,458,800 (GRCm39) |
|
probably null |
Het |
| Guf1 |
T |
C |
5: 69,721,887 (GRCm39) |
S349P |
probably damaging |
Het |
| Hvcn1 |
A |
G |
5: 122,371,586 (GRCm39) |
Y42C |
probably damaging |
Het |
| Insm1 |
A |
G |
2: 146,065,027 (GRCm39) |
Y281C |
probably damaging |
Het |
| Lrrc71 |
A |
G |
3: 87,650,281 (GRCm39) |
I264T |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,036,462 (GRCm39) |
N897S |
probably damaging |
Het |
| Mtmr6 |
T |
A |
14: 60,533,596 (GRCm39) |
F375I |
probably damaging |
Het |
| Mtor |
G |
C |
4: 148,536,807 (GRCm39) |
S27T |
possibly damaging |
Het |
| Mylk4 |
T |
A |
13: 32,892,891 (GRCm39) |
K387N |
possibly damaging |
Het |
| Nadk2 |
T |
G |
15: 9,092,935 (GRCm39) |
D247E |
probably benign |
Het |
| Nfya |
T |
C |
17: 48,699,445 (GRCm39) |
T213A |
probably damaging |
Het |
| Nlrp1a |
A |
G |
11: 70,990,354 (GRCm39) |
V1067A |
probably benign |
Het |
| Nrbp2 |
C |
T |
15: 75,959,257 (GRCm39) |
R206Q |
possibly damaging |
Het |
| Oas2 |
A |
G |
5: 120,871,293 (GRCm39) |
V722A |
probably benign |
Het |
| Odad4 |
G |
A |
11: 100,452,731 (GRCm39) |
|
probably null |
Het |
| Or4c108 |
G |
T |
2: 88,804,001 (GRCm39) |
P78Q |
probably damaging |
Het |
| Pcdhb2 |
G |
T |
18: 37,428,000 (GRCm39) |
|
probably benign |
Het |
| Pdpr |
T |
A |
8: 111,852,317 (GRCm39) |
H561Q |
probably damaging |
Het |
| Plcz1 |
A |
G |
6: 139,961,853 (GRCm39) |
F233L |
probably damaging |
Het |
| Ppp1r3d |
A |
G |
2: 178,055,165 (GRCm39) |
I279T |
probably damaging |
Het |
| Psg17 |
A |
G |
7: 18,548,416 (GRCm39) |
Y452H |
probably damaging |
Het |
| Reg4 |
T |
C |
3: 98,140,428 (GRCm39) |
|
probably null |
Het |
| Rint1 |
A |
G |
5: 24,010,477 (GRCm39) |
T229A |
probably benign |
Het |
| Robo1 |
T |
G |
16: 72,839,866 (GRCm39) |
|
probably null |
Het |
| Slc22a26 |
A |
C |
19: 7,779,952 (GRCm39) |
|
probably null |
Het |
| Slc22a7 |
C |
T |
17: 46,749,156 (GRCm39) |
A54T |
probably benign |
Het |
| Slc52a3 |
C |
A |
2: 151,846,534 (GRCm39) |
T165N |
possibly damaging |
Het |
| Slc7a11 |
C |
T |
3: 50,378,486 (GRCm39) |
|
probably null |
Het |
| Smap2 |
T |
C |
4: 120,873,996 (GRCm39) |
N18S |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,595,278 (GRCm39) |
E369G |
probably damaging |
Het |
| Tars3 |
T |
A |
7: 65,325,760 (GRCm39) |
Y445N |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tmprss7 |
C |
T |
16: 45,483,637 (GRCm39) |
G579D |
probably benign |
Het |
| Tpi1 |
T |
A |
6: 124,789,817 (GRCm39) |
K109* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,628,856 (GRCm39) |
E14466G |
possibly damaging |
Het |
| Usp40 |
A |
T |
1: 87,890,152 (GRCm39) |
C903* |
probably null |
Het |
| Vinac1 |
T |
A |
2: 128,880,192 (GRCm39) |
D578V |
|
Het |
| Vmn2r104 |
T |
A |
17: 20,261,971 (GRCm39) |
L386F |
possibly damaging |
Het |
| Vmn2r54 |
G |
A |
7: 12,349,630 (GRCm39) |
P651S |
probably damaging |
Het |
| Wnk4 |
C |
A |
11: 101,153,721 (GRCm39) |
T261K |
probably damaging |
Het |
| Wnt2b |
T |
C |
3: 104,854,432 (GRCm39) |
Y342C |
probably damaging |
Het |
| Zbtb8b |
A |
G |
4: 129,326,755 (GRCm39) |
Y137H |
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 |
|
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 |
|
|
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'- AAGCCAGAGGATCACAAGTTC -3'
(R):5'- TGCAGAAAGTAAACATGTTGCC -3'
Sequencing Primer
(F):5'- GTTCAAAACCAACCTGGGAC -3'
(R):5'- CCAGCCATGCATTCCATT -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation