Incidental Mutation 'R6153:Atg2b'
| ID |
489409 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg2b
|
| Ensembl Gene |
ENSMUSG00000041341 |
| Gene Name |
autophagy related 2B |
| Synonyms |
C030004M05Rik, 2410024A21Rik, C630028L02Rik |
| MMRRC Submission |
044300-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.205)
|
| Stock # |
R6153 (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 105589741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 1837
(I1837V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041055]
|
| AlphaFold |
Q80XK6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041055
AA Change: I1837V
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000037441
Gene: ENSMUSG00000041341
AA Change: I1837V
| 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: ENSMUST00000220960
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000221015
AA Change: I677V
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222395
|
| Meta Mutation Damage Score |
0.1090 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
| Validation Efficiency |
99% (66/67) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
T |
11: 9,251,259 (GRCm39) |
|
probably null |
Het |
| Ache |
T |
C |
5: 137,290,117 (GRCm39) |
I394T |
probably damaging |
Het |
| Acsm1 |
G |
A |
7: 119,232,289 (GRCm39) |
G62D |
probably damaging |
Het |
| Actrt3 |
T |
A |
3: 30,653,899 (GRCm39) |
I34F |
probably damaging |
Het |
| Adgrf5 |
T |
C |
17: 43,761,974 (GRCm39) |
I1223T |
possibly damaging |
Het |
| Adora2a |
T |
C |
10: 75,161,981 (GRCm39) |
F40S |
possibly damaging |
Het |
| Ano8 |
T |
C |
8: 71,933,441 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
T |
A |
17: 5,293,107 (GRCm39) |
L675Q |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,145,109 (GRCm39) |
Y1284C |
probably damaging |
Het |
| B3gnt7 |
G |
T |
1: 86,233,237 (GRCm39) |
G44V |
probably damaging |
Het |
| Chrna1 |
G |
T |
2: 73,403,653 (GRCm39) |
H99N |
probably benign |
Het |
| Cnksr1 |
T |
C |
4: 133,961,204 (GRCm39) |
H220R |
probably damaging |
Het |
| Cpsf2 |
T |
A |
12: 101,965,619 (GRCm39) |
|
probably null |
Het |
| Daglb |
T |
C |
5: 143,489,096 (GRCm39) |
L651P |
probably benign |
Het |
| Ddx60 |
A |
G |
8: 62,398,974 (GRCm39) |
D231G |
possibly damaging |
Het |
| Ehd4 |
A |
C |
2: 119,932,904 (GRCm39) |
F174C |
probably damaging |
Het |
| Emsy |
G |
T |
7: 98,260,060 (GRCm39) |
P9T |
probably damaging |
Het |
| Fnbp1l |
T |
C |
3: 122,352,805 (GRCm39) |
E217G |
probably benign |
Het |
| Gm11596 |
A |
T |
11: 99,683,524 (GRCm39) |
C199S |
unknown |
Het |
| Gmps |
T |
G |
3: 63,908,964 (GRCm39) |
C489G |
probably benign |
Het |
| Gpsm1 |
T |
C |
2: 26,215,425 (GRCm39) |
Y296H |
probably benign |
Het |
| Heatr5b |
T |
C |
17: 79,138,870 (GRCm39) |
T91A |
possibly damaging |
Het |
| Hs3st3b1 |
A |
T |
11: 63,780,324 (GRCm39) |
W268R |
probably damaging |
Het |
| Il27ra |
T |
C |
8: 84,758,773 (GRCm39) |
|
probably null |
Het |
| Itga5 |
T |
A |
15: 103,265,880 (GRCm39) |
I156F |
probably damaging |
Het |
| Kcnmb3 |
T |
A |
3: 32,527,976 (GRCm39) |
D96V |
probably damaging |
Het |
| Khdrbs1 |
T |
A |
4: 129,609,965 (GRCm39) |
N417Y |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,383,454 (GRCm39) |
N118D |
possibly damaging |
Het |
| Mdm4 |
A |
G |
1: 132,919,845 (GRCm39) |
L341P |
probably damaging |
Het |
| Mecom |
T |
C |
3: 30,047,797 (GRCm39) |
E225G |
possibly damaging |
Het |
| Megf8 |
G |
A |
7: 25,046,796 (GRCm39) |
G1560S |
possibly damaging |
Het |
| Mfsd13a |
A |
T |
19: 46,356,321 (GRCm39) |
D142V |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,415,181 (GRCm39) |
Y2709F |
possibly damaging |
Het |
| Nelfa |
A |
T |
5: 34,056,223 (GRCm39) |
I480N |
probably damaging |
Het |
| Or10ak8 |
G |
A |
4: 118,773,944 (GRCm39) |
S240F |
probably damaging |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Palld |
G |
T |
8: 62,003,186 (GRCm39) |
N304K |
probably damaging |
Het |
| Pcsk5 |
A |
G |
19: 17,488,856 (GRCm39) |
L988P |
probably damaging |
Het |
| Prmt1 |
A |
T |
7: 44,631,251 (GRCm39) |
F34I |
probably damaging |
Het |
| Pzp |
A |
G |
6: 128,465,979 (GRCm39) |
S1234P |
probably benign |
Het |
| Ralb |
A |
T |
1: 119,405,870 (GRCm39) |
|
probably null |
Het |
| Robo2 |
T |
A |
16: 73,717,617 (GRCm39) |
D141V |
probably damaging |
Het |
| Rsrc1 |
T |
C |
3: 67,262,895 (GRCm39) |
I283T |
probably benign |
Het |
| Sec62 |
A |
T |
3: 30,864,631 (GRCm39) |
K165M |
unknown |
Het |
| Sez6 |
A |
G |
11: 77,868,648 (GRCm39) |
D974G |
probably damaging |
Het |
| Shc2 |
T |
A |
10: 79,465,752 (GRCm39) |
I187F |
possibly damaging |
Het |
| Shroom3 |
G |
A |
5: 93,112,267 (GRCm39) |
R1876Q |
probably damaging |
Het |
| Siglecg |
C |
A |
7: 43,061,441 (GRCm39) |
N481K |
possibly damaging |
Het |
| Skil |
T |
A |
3: 31,152,002 (GRCm39) |
F175I |
probably damaging |
Het |
| Slc1a1 |
T |
C |
19: 28,886,935 (GRCm39) |
V432A |
probably damaging |
Het |
| Slit3 |
G |
T |
11: 35,591,310 (GRCm39) |
G1374V |
possibly damaging |
Het |
| Snx14 |
T |
C |
9: 88,273,859 (GRCm39) |
Y644C |
probably damaging |
Het |
| Snx33 |
T |
A |
9: 56,833,983 (GRCm39) |
I29F |
possibly damaging |
Het |
| Sos1 |
T |
A |
17: 80,756,764 (GRCm39) |
I263L |
probably benign |
Het |
| Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
| Tbpl2 |
C |
A |
2: 23,966,028 (GRCm39) |
V320F |
probably damaging |
Het |
| Tmem209 |
A |
G |
6: 30,505,794 (GRCm39) |
S171P |
probably benign |
Het |
| Tprkb |
T |
A |
6: 85,893,172 (GRCm39) |
|
probably null |
Het |
| Tspan11 |
G |
A |
6: 127,916,061 (GRCm39) |
S119N |
probably benign |
Het |
| Ulk2 |
A |
T |
11: 61,672,572 (GRCm39) |
V922D |
probably damaging |
Het |
| Zfp267 |
A |
G |
3: 36,219,303 (GRCm39) |
H442R |
possibly damaging |
Het |
| Zfp976 |
A |
C |
7: 42,263,610 (GRCm39) |
Y76D |
probably damaging |
Het |
| Zkscan2 |
G |
A |
7: 123,088,993 (GRCm39) |
T426I |
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 |
|
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'- GCTCTGTTCCAGTCACAAGC -3'
(R):5'- GCTGATATGATGGGTTGCACC -3'
Sequencing Primer
(F):5'- TCTGTTCCAGTCACAAGCAAACAC -3'
(R):5'- TTCCCTAGCAACAGCTGT -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation