Incidental Mutation 'IGL02041:Atg9a'
| ID |
184771 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atg9a
|
| Ensembl Gene |
ENSMUSG00000033124 |
| Gene Name |
autophagy related 9A |
| Synonyms |
Apg9l1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02041
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
75157509-75168654 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 75159748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 712
(Q712K)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027396]
[ENSMUST00000040689]
[ENSMUST00000189702]
[ENSMUST00000188347]
[ENSMUST00000189665]
|
| AlphaFold |
Q68FE2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027396
|
| SMART Domains |
Protein: ENSMUSP00000027396
Gene: ENSMUSG00000026198
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MTABC_N
|
6 |
255 |
7.8e-80 |
PFAM |
|
Pfam:ABC_membrane
|
265 |
544 |
3.7e-34 |
PFAM |
|
AAA
|
615 |
816 |
1.29e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040689
AA Change: Q720K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000047449
Gene: ENSMUSG00000033124
AA Change: Q720K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
transmembrane domain
|
126 |
148 |
N/A |
INTRINSIC |
|
Pfam:APG9
|
173 |
530 |
3.4e-134 |
PFAM |
|
low complexity region
|
588 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
621 |
N/A |
INTRINSIC |
|
Blast:HELICc
|
692 |
733 |
1e-13 |
BLAST |
|
low complexity region
|
734 |
755 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159219
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160081
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160757
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161103
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185727
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000187785
AA Change: S239R
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189820
AA Change: Q712K
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189702
AA Change: Q720K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000139641
Gene: ENSMUSG00000033124
AA Change: Q720K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
transmembrane domain
|
126 |
148 |
N/A |
INTRINSIC |
|
Pfam:APG9
|
172 |
533 |
2.4e-140 |
PFAM |
|
low complexity region
|
588 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
621 |
N/A |
INTRINSIC |
|
Blast:HELICc
|
692 |
733 |
1e-13 |
BLAST |
|
low complexity region
|
734 |
755 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188347
AA Change: Q720K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000139731
Gene: ENSMUSG00000033124
AA Change: Q720K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
transmembrane domain
|
126 |
148 |
N/A |
INTRINSIC |
|
Pfam:APG9
|
172 |
533 |
2.4e-140 |
PFAM |
|
low complexity region
|
588 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
621 |
N/A |
INTRINSIC |
|
Blast:HELICc
|
692 |
733 |
1e-13 |
BLAST |
|
low complexity region
|
734 |
755 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188430
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189665
|
| SMART Domains |
Protein: ENSMUSP00000140012
Gene: ENSMUSG00000033124
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
transmembrane domain
|
126 |
148 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation all die within 1 day of birth and display impaired autophagy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
T |
19: 43,772,674 (GRCm39) |
Q28L |
probably damaging |
Het |
| Abtb3 |
G |
A |
10: 85,223,418 (GRCm39) |
D76N |
unknown |
Het |
| Afg1l |
A |
G |
10: 42,330,376 (GRCm39) |
V97A |
probably damaging |
Het |
| Akap6 |
A |
C |
12: 53,187,436 (GRCm39) |
S1617R |
probably damaging |
Het |
| Aldh1a3 |
T |
C |
7: 66,057,579 (GRCm39) |
N285D |
probably damaging |
Het |
| Arhgap20 |
A |
T |
9: 51,757,490 (GRCm39) |
N494I |
possibly damaging |
Het |
| Cdcp2 |
G |
A |
4: 106,964,386 (GRCm39) |
|
probably benign |
Het |
| Cds2 |
T |
A |
2: 132,136,363 (GRCm39) |
I84N |
possibly damaging |
Het |
| Clcn3 |
T |
C |
8: 61,376,187 (GRCm39) |
I596V |
probably damaging |
Het |
| Ctxn1 |
A |
G |
8: 4,308,514 (GRCm39) |
L39P |
probably damaging |
Het |
| Efhb |
A |
T |
17: 53,733,287 (GRCm39) |
V528D |
probably damaging |
Het |
| Fmod |
T |
G |
1: 133,968,001 (GRCm39) |
S14A |
probably benign |
Het |
| Foxh1 |
A |
G |
15: 76,553,120 (GRCm39) |
F198S |
probably damaging |
Het |
| Gcc2 |
A |
G |
10: 58,105,103 (GRCm39) |
E77G |
probably damaging |
Het |
| Gm5420 |
G |
T |
10: 21,566,933 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6434 |
T |
G |
7: 25,581,655 (GRCm39) |
|
noncoding transcript |
Het |
| Il1b |
A |
T |
2: 129,211,662 (GRCm39) |
N19K |
possibly damaging |
Het |
| Lama2 |
T |
A |
10: 26,860,322 (GRCm39) |
D3055V |
probably damaging |
Het |
| Lcn3 |
G |
A |
2: 25,655,636 (GRCm39) |
V18I |
probably benign |
Het |
| Lpcat2 |
A |
G |
8: 93,644,809 (GRCm39) |
S533G |
probably benign |
Het |
| Map4k2 |
G |
A |
19: 6,401,348 (GRCm39) |
R606Q |
probably benign |
Het |
| Mtnr1b |
T |
C |
9: 15,774,589 (GRCm39) |
T157A |
probably benign |
Het |
| Myo15a |
G |
A |
11: 60,397,689 (GRCm39) |
E2705K |
probably damaging |
Het |
| Ncf2 |
A |
G |
1: 152,711,871 (GRCm39) |
|
probably benign |
Het |
| Nfkbil1 |
G |
A |
17: 35,439,934 (GRCm39) |
T193M |
probably benign |
Het |
| Nmi |
T |
G |
2: 51,850,641 (GRCm39) |
K9T |
possibly damaging |
Het |
| Or2d4 |
T |
C |
7: 106,543,320 (GRCm39) |
D296G |
possibly damaging |
Het |
| Or5p69 |
T |
C |
7: 107,966,742 (GRCm39) |
F15S |
probably damaging |
Het |
| Or6c6c |
A |
G |
10: 129,541,104 (GRCm39) |
D119G |
probably damaging |
Het |
| Osbpl7 |
T |
A |
11: 96,951,334 (GRCm39) |
C502S |
probably benign |
Het |
| Pex5 |
A |
T |
6: 124,382,240 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,356,452 (GRCm39) |
|
probably null |
Het |
| Prmt3 |
C |
T |
7: 49,478,711 (GRCm39) |
T424M |
possibly damaging |
Het |
| Rapgef4 |
G |
A |
2: 72,029,140 (GRCm39) |
G404D |
probably damaging |
Het |
| Rbm5 |
C |
T |
9: 107,633,045 (GRCm39) |
|
probably benign |
Het |
| Rfc2 |
T |
A |
5: 134,623,098 (GRCm39) |
F238L |
probably benign |
Het |
| Rsl1 |
A |
G |
13: 67,324,612 (GRCm39) |
E46G |
probably damaging |
Het |
| Sall1 |
A |
G |
8: 89,758,097 (GRCm39) |
F669S |
probably damaging |
Het |
| Sipa1l2 |
A |
G |
8: 126,218,558 (GRCm39) |
S260P |
probably benign |
Het |
| Slc26a8 |
A |
G |
17: 28,861,225 (GRCm39) |
Y820H |
probably damaging |
Het |
| Tas2r115 |
A |
G |
6: 132,714,430 (GRCm39) |
F174L |
probably benign |
Het |
| Terb1 |
A |
C |
8: 105,221,746 (GRCm39) |
C185G |
probably damaging |
Het |
| Vmn2r108 |
A |
T |
17: 20,683,398 (GRCm39) |
V602E |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,514,703 (GRCm39) |
I89F |
probably damaging |
Het |
| Vps13b |
G |
T |
15: 35,423,391 (GRCm39) |
R237L |
probably damaging |
Het |
| Zfp865 |
T |
C |
7: 5,034,372 (GRCm39) |
S786P |
probably benign |
Het |
|
| Other mutations in Atg9a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01464:Atg9a
|
APN |
1 |
75,167,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03367:Atg9a
|
APN |
1 |
75,164,601 (GRCm39) |
missense |
probably benign |
0.18 |
|
PIT4494001:Atg9a
|
UTSW |
1 |
75,164,597 (GRCm39) |
nonsense |
probably null |
|
|
R0054:Atg9a
|
UTSW |
1 |
75,161,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0054:Atg9a
|
UTSW |
1 |
75,161,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0408:Atg9a
|
UTSW |
1 |
75,161,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0520:Atg9a
|
UTSW |
1 |
75,163,178 (GRCm39) |
nonsense |
probably null |
|
|
R0653:Atg9a
|
UTSW |
1 |
75,166,972 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0666:Atg9a
|
UTSW |
1 |
75,161,734 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0961:Atg9a
|
UTSW |
1 |
75,163,390 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1489:Atg9a
|
UTSW |
1 |
75,162,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1490:Atg9a
|
UTSW |
1 |
75,162,389 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1692:Atg9a
|
UTSW |
1 |
75,166,999 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1997:Atg9a
|
UTSW |
1 |
75,166,270 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2005:Atg9a
|
UTSW |
1 |
75,162,635 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2172:Atg9a
|
UTSW |
1 |
75,162,329 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4004:Atg9a
|
UTSW |
1 |
75,163,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4105:Atg9a
|
UTSW |
1 |
75,162,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5010:Atg9a
|
UTSW |
1 |
75,162,704 (GRCm39) |
splice site |
probably null |
|
|
R5220:Atg9a
|
UTSW |
1 |
75,162,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5898:Atg9a
|
UTSW |
1 |
75,162,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6295:Atg9a
|
UTSW |
1 |
75,161,702 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6390:Atg9a
|
UTSW |
1 |
75,164,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7312:Atg9a
|
UTSW |
1 |
75,164,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7729:Atg9a
|
UTSW |
1 |
75,161,204 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8111:Atg9a
|
UTSW |
1 |
75,164,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8210:Atg9a
|
UTSW |
1 |
75,163,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8210:Atg9a
|
UTSW |
1 |
75,161,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8256:Atg9a
|
UTSW |
1 |
75,163,563 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8319:Atg9a
|
UTSW |
1 |
75,162,342 (GRCm39) |
nonsense |
probably null |
|
|
R8321:Atg9a
|
UTSW |
1 |
75,162,342 (GRCm39) |
nonsense |
probably null |
|
|
R8382:Atg9a
|
UTSW |
1 |
75,162,342 (GRCm39) |
nonsense |
probably null |
|
|
R8406:Atg9a
|
UTSW |
1 |
75,167,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8482:Atg9a
|
UTSW |
1 |
75,162,870 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8855:Atg9a
|
UTSW |
1 |
75,161,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8866:Atg9a
|
UTSW |
1 |
75,161,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9381:Atg9a
|
UTSW |
1 |
75,162,726 (GRCm39) |
missense |
probably benign |
|
|
R9441:Atg9a
|
UTSW |
1 |
75,163,086 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9442:Atg9a
|
UTSW |
1 |
75,163,086 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9448:Atg9a
|
UTSW |
1 |
75,162,849 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9608:Atg9a
|
UTSW |
1 |
75,161,739 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9703:Atg9a
|
UTSW |
1 |
75,162,431 (GRCm39) |
missense |
probably damaging |
0.98 |
|
RF021:Atg9a
|
UTSW |
1 |
75,159,273 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Atg9a
|
UTSW |
1 |
75,163,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation