Incidental Mutation 'PIT4515001:Atg2a'
| ID |
556354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg2a
|
| Ensembl Gene |
ENSMUSG00000024773 |
| Gene Name |
autophagy related 2A |
| Synonyms |
1810013C15Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.400)
|
| Stock # |
PIT4515001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
6291698-6312365 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6303615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 1125
(I1125V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046412
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045351]
|
| AlphaFold |
Q6P4T0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045351
AA Change: I1125V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046412
Gene: ENSMUSG00000024773
AA Change: I1125V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Chorein_N
|
14 |
131 |
7.6e-20 |
PFAM |
|
low complexity region
|
138 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
301 |
N/A |
INTRINSIC |
|
low complexity region
|
501 |
512 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
863 |
N/A |
INTRINSIC |
|
low complexity region
|
1069 |
1081 |
N/A |
INTRINSIC |
|
low complexity region
|
1429 |
1446 |
N/A |
INTRINSIC |
|
low complexity region
|
1761 |
1773 |
N/A |
INTRINSIC |
|
Pfam:ATG_C
|
1814 |
1908 |
2.2e-31 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000114998
Gene: ENSMUSG00000024773
AA Change: I926V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
87 |
103 |
N/A |
INTRINSIC |
|
low complexity region
|
303 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
654 |
665 |
N/A |
INTRINSIC |
|
low complexity region
|
871 |
883 |
N/A |
INTRINSIC |
|
low complexity region
|
1233 |
1250 |
N/A |
INTRINSIC |
|
low complexity region
|
1565 |
1577 |
N/A |
INTRINSIC |
|
Pfam:ATG_C
|
1618 |
1712 |
3.6e-32 |
PFAM |
|
| Coding Region Coverage |
- 1x: 93.4%
- 3x: 91.0%
- 10x: 86.0%
- 20x: 75.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,383,068 (GRCm39) |
R966* |
probably null |
Het |
| Adam32 |
A |
T |
8: 25,404,342 (GRCm39) |
I221K |
possibly damaging |
Het |
| Adcy6 |
T |
C |
15: 98,493,027 (GRCm39) |
T880A |
probably benign |
Het |
| Agpat5 |
T |
A |
8: 18,896,657 (GRCm39) |
Y28N |
probably damaging |
Het |
| B4galt6 |
A |
G |
18: 20,821,524 (GRCm39) |
Y335H |
probably benign |
Het |
| Bend3 |
A |
T |
10: 43,386,630 (GRCm39) |
E341V |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,028,385 (GRCm39) |
Y2351N |
probably damaging |
Het |
| Ccdc136 |
T |
A |
6: 29,417,225 (GRCm39) |
V682E |
probably benign |
Het |
| Ccdc142 |
T |
C |
6: 83,080,238 (GRCm39) |
C394R |
probably benign |
Het |
| Cfap58 |
A |
G |
19: 48,023,122 (GRCm39) |
N845D |
probably benign |
Het |
| Col4a3 |
G |
A |
1: 82,660,024 (GRCm39) |
G890R |
unknown |
Het |
| Cyp1a2 |
C |
A |
9: 57,589,242 (GRCm39) |
V191L |
probably benign |
Het |
| Cyp51 |
A |
T |
5: 4,149,122 (GRCm39) |
|
probably null |
Het |
| Diras2 |
T |
C |
13: 52,661,783 (GRCm39) |
S175G |
possibly damaging |
Het |
| Dnah6 |
A |
G |
6: 73,091,565 (GRCm39) |
F2242S |
probably damaging |
Het |
| Erg |
T |
A |
16: 95,210,619 (GRCm39) |
N78Y |
probably benign |
Het |
| Fdft1 |
T |
A |
14: 63,402,032 (GRCm39) |
Q49L |
probably benign |
Het |
| Frem1 |
G |
T |
4: 82,818,663 (GRCm39) |
H2183Q |
probably damaging |
Het |
| Fut2 |
G |
A |
7: 45,299,890 (GRCm39) |
T294I |
probably damaging |
Het |
| Gabrb1 |
A |
C |
5: 71,858,160 (GRCm39) |
D62A |
probably damaging |
Het |
| Gbe1 |
T |
A |
16: 70,238,004 (GRCm39) |
Y263* |
probably null |
Het |
| Gimap6 |
T |
C |
6: 48,679,502 (GRCm39) |
D178G |
probably benign |
Het |
| Gss |
T |
A |
2: 155,420,261 (GRCm39) |
T147S |
probably damaging |
Het |
| Hlcs |
A |
T |
16: 94,068,275 (GRCm39) |
V315E |
probably benign |
Het |
| Hoxa3 |
C |
T |
6: 52,147,164 (GRCm39) |
G363E |
unknown |
Het |
| Ift140 |
A |
G |
17: 25,305,834 (GRCm39) |
N807S |
probably damaging |
Het |
| Iglc1 |
T |
G |
16: 18,880,701 (GRCm39) |
D40A |
|
Het |
| Itga10 |
T |
A |
3: 96,569,948 (GRCm39) |
I1120N |
probably damaging |
Het |
| Jak3 |
T |
C |
8: 72,132,286 (GRCm39) |
V217A |
probably benign |
Het |
| Kank2 |
T |
G |
9: 21,706,179 (GRCm39) |
I280L |
probably benign |
Het |
| Kcnk1 |
G |
T |
8: 126,752,081 (GRCm39) |
G229V |
probably damaging |
Het |
| Kpna7 |
T |
C |
5: 144,941,862 (GRCm39) |
T143A |
probably benign |
Het |
| Letmd1 |
C |
T |
15: 100,374,683 (GRCm39) |
R310C |
probably damaging |
Het |
| Mga |
G |
A |
2: 119,746,985 (GRCm39) |
V379I |
probably damaging |
Het |
| Mto1 |
T |
A |
9: 78,364,699 (GRCm39) |
Y313N |
probably damaging |
Het |
| Muc5ac |
G |
A |
7: 141,361,153 (GRCm39) |
C1488Y |
probably damaging |
Het |
| Nde1 |
T |
A |
16: 13,988,357 (GRCm39) |
|
probably null |
Het |
| Nfatc3 |
T |
C |
8: 106,805,835 (GRCm39) |
S235P |
possibly damaging |
Het |
| Nup88 |
T |
C |
11: 70,835,547 (GRCm39) |
D602G |
probably benign |
Het |
| Or11g25 |
T |
A |
14: 50,723,536 (GRCm39) |
M207K |
probably benign |
Het |
| Or2h1b |
A |
C |
17: 37,462,270 (GRCm39) |
S198A |
probably benign |
Het |
| Pcnx1 |
G |
A |
12: 82,038,561 (GRCm39) |
C1309Y |
|
Het |
| Phldb1 |
A |
G |
9: 44,627,257 (GRCm39) |
I396T |
probably benign |
Het |
| Pramel38 |
T |
C |
5: 94,368,831 (GRCm39) |
M442T |
probably benign |
Het |
| Pramel41 |
A |
C |
5: 94,594,694 (GRCm39) |
K185Q |
probably benign |
Het |
| Prss53 |
G |
A |
7: 127,487,963 (GRCm39) |
T173I |
probably benign |
Het |
| Ptpn11 |
C |
A |
5: 121,302,617 (GRCm39) |
D156Y |
probably damaging |
Het |
| Rfx8 |
A |
G |
1: 39,729,265 (GRCm39) |
Y167H |
probably benign |
Het |
| Rpsa |
T |
A |
9: 119,960,214 (GRCm39) |
I259N |
probably benign |
Het |
| Rrm2b |
G |
T |
15: 37,947,048 (GRCm39) |
D84E |
probably benign |
Het |
| Scgb2b19 |
A |
T |
7: 32,979,036 (GRCm39) |
|
probably null |
Het |
| Sik3 |
T |
C |
9: 46,120,029 (GRCm39) |
L706P |
probably damaging |
Het |
| Slc4a4 |
A |
T |
5: 89,281,112 (GRCm39) |
E426D |
probably damaging |
Het |
| Slc8a2 |
C |
A |
7: 15,874,504 (GRCm39) |
L251I |
possibly damaging |
Het |
| Taf6 |
T |
C |
5: 138,180,504 (GRCm39) |
K287E |
probably benign |
Het |
| Tiam1 |
G |
A |
16: 89,657,130 (GRCm39) |
T702I |
probably damaging |
Het |
| Tle1 |
A |
T |
4: 72,117,556 (GRCm39) |
F35I |
possibly damaging |
Het |
| Tle2 |
A |
G |
10: 81,422,964 (GRCm39) |
Q454R |
possibly damaging |
Het |
| Tsc2 |
T |
C |
17: 24,840,121 (GRCm39) |
N425S |
probably benign |
Het |
| Utp3 |
A |
G |
5: 88,702,564 (GRCm39) |
D31G |
probably benign |
Het |
| Vmn1r173 |
A |
T |
7: 23,401,911 (GRCm39) |
R49* |
probably null |
Het |
| Ybx2 |
T |
A |
11: 69,831,224 (GRCm39) |
V273E |
probably benign |
Het |
| Zbtb22 |
G |
A |
17: 34,137,672 (GRCm39) |
A606T |
probably benign |
Het |
| Zcchc8 |
A |
T |
5: 123,838,995 (GRCm39) |
D514E |
probably benign |
Het |
| Zfy2 |
T |
A |
Y: 2,117,096 (GRCm39) |
I244F |
probably benign |
Het |
| Zglp1 |
T |
C |
9: 20,977,485 (GRCm39) |
N110S |
probably benign |
Het |
|
| Other mutations in Atg2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00972:Atg2a
|
APN |
19 |
6,304,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01612:Atg2a
|
APN |
19 |
6,302,514 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02105:Atg2a
|
APN |
19 |
6,300,433 (GRCm39) |
splice site |
probably benign |
|
|
IGL02151:Atg2a
|
APN |
19 |
6,305,787 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02228:Atg2a
|
APN |
19 |
6,296,830 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02329:Atg2a
|
APN |
19 |
6,299,959 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02408:Atg2a
|
APN |
19 |
6,291,858 (GRCm39) |
nonsense |
probably null |
|
|
IGL02538:Atg2a
|
APN |
19 |
6,307,658 (GRCm39) |
missense |
probably benign |
|
|
IGL02830:Atg2a
|
APN |
19 |
6,297,711 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03349:Atg2a
|
APN |
19 |
6,308,054 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0099:Atg2a
|
UTSW |
19 |
6,302,819 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0212:Atg2a
|
UTSW |
19 |
6,296,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0365:Atg2a
|
UTSW |
19 |
6,297,713 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0398:Atg2a
|
UTSW |
19 |
6,296,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0483:Atg2a
|
UTSW |
19 |
6,306,632 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0483:Atg2a
|
UTSW |
19 |
6,306,631 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0494:Atg2a
|
UTSW |
19 |
6,303,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0511:Atg2a
|
UTSW |
19 |
6,302,569 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0590:Atg2a
|
UTSW |
19 |
6,295,037 (GRCm39) |
unclassified |
probably benign |
|
|
R0592:Atg2a
|
UTSW |
19 |
6,295,037 (GRCm39) |
unclassified |
probably benign |
|
|
R0593:Atg2a
|
UTSW |
19 |
6,295,037 (GRCm39) |
unclassified |
probably benign |
|
|
R0630:Atg2a
|
UTSW |
19 |
6,294,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1306:Atg2a
|
UTSW |
19 |
6,303,051 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1437:Atg2a
|
UTSW |
19 |
6,300,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1539:Atg2a
|
UTSW |
19 |
6,296,801 (GRCm39) |
splice site |
probably null |
|
|
R1774:Atg2a
|
UTSW |
19 |
6,300,628 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1781:Atg2a
|
UTSW |
19 |
6,306,243 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1854:Atg2a
|
UTSW |
19 |
6,302,461 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1884:Atg2a
|
UTSW |
19 |
6,304,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1899:Atg2a
|
UTSW |
19 |
6,295,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1935:Atg2a
|
UTSW |
19 |
6,302,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2020:Atg2a
|
UTSW |
19 |
6,300,299 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2071:Atg2a
|
UTSW |
19 |
6,307,488 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2513:Atg2a
|
UTSW |
19 |
6,308,076 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3808:Atg2a
|
UTSW |
19 |
6,302,846 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4065:Atg2a
|
UTSW |
19 |
6,308,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4109:Atg2a
|
UTSW |
19 |
6,308,404 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4352:Atg2a
|
UTSW |
19 |
6,307,487 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4440:Atg2a
|
UTSW |
19 |
6,305,859 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4472:Atg2a
|
UTSW |
19 |
6,308,985 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4669:Atg2a
|
UTSW |
19 |
6,309,017 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4878:Atg2a
|
UTSW |
19 |
6,300,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4926:Atg2a
|
UTSW |
19 |
6,307,563 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5237:Atg2a
|
UTSW |
19 |
6,296,844 (GRCm39) |
missense |
probably benign |
|
|
R5350:Atg2a
|
UTSW |
19 |
6,301,368 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5507:Atg2a
|
UTSW |
19 |
6,295,100 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5732:Atg2a
|
UTSW |
19 |
6,307,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5784:Atg2a
|
UTSW |
19 |
6,311,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5960:Atg2a
|
UTSW |
19 |
6,304,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5985:Atg2a
|
UTSW |
19 |
6,304,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6175:Atg2a
|
UTSW |
19 |
6,291,759 (GRCm39) |
unclassified |
probably benign |
|
|
R6572:Atg2a
|
UTSW |
19 |
6,304,695 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6878:Atg2a
|
UTSW |
19 |
6,300,208 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6879:Atg2a
|
UTSW |
19 |
6,301,882 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6983:Atg2a
|
UTSW |
19 |
6,310,070 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7024:Atg2a
|
UTSW |
19 |
6,300,249 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7217:Atg2a
|
UTSW |
19 |
6,303,471 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7384:Atg2a
|
UTSW |
19 |
6,311,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7387:Atg2a
|
UTSW |
19 |
6,305,198 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7425:Atg2a
|
UTSW |
19 |
6,305,682 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7512:Atg2a
|
UTSW |
19 |
6,310,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7658:Atg2a
|
UTSW |
19 |
6,301,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7893:Atg2a
|
UTSW |
19 |
6,301,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8062:Atg2a
|
UTSW |
19 |
6,302,609 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8258:Atg2a
|
UTSW |
19 |
6,299,859 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8259:Atg2a
|
UTSW |
19 |
6,299,859 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8350:Atg2a
|
UTSW |
19 |
6,296,841 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8412:Atg2a
|
UTSW |
19 |
6,294,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8450:Atg2a
|
UTSW |
19 |
6,296,841 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8474:Atg2a
|
UTSW |
19 |
6,301,433 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8501:Atg2a
|
UTSW |
19 |
6,304,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8738:Atg2a
|
UTSW |
19 |
6,306,674 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8786:Atg2a
|
UTSW |
19 |
6,294,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8810:Atg2a
|
UTSW |
19 |
6,300,651 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8898:Atg2a
|
UTSW |
19 |
6,306,721 (GRCm39) |
splice site |
probably benign |
|
|
R9016:Atg2a
|
UTSW |
19 |
6,300,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9111:Atg2a
|
UTSW |
19 |
6,311,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9177:Atg2a
|
UTSW |
19 |
6,291,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9184:Atg2a
|
UTSW |
19 |
6,291,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9268:Atg2a
|
UTSW |
19 |
6,291,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9496:Atg2a
|
UTSW |
19 |
6,310,022 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9570:Atg2a
|
UTSW |
19 |
6,305,749 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9642:Atg2a
|
UTSW |
19 |
6,300,198 (GRCm39) |
nonsense |
probably null |
|
|
X0065:Atg2a
|
UTSW |
19 |
6,308,226 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACCGTCATCACTGTCCTG -3'
(R):5'- GTCCTGCATGCTTTGTGGAAC -3'
Sequencing Primer
(F):5'- GTCATCACTGTCCTGCACACAC -3'
(R):5'- AACTCCCAGGGTGAGGTTAC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation