Incidental Mutation 'R6390:Atg9a'
| ID |
515717 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg9a
|
| Ensembl Gene |
ENSMUSG00000033124 |
| Gene Name |
autophagy related 9A |
| Synonyms |
Apg9l1 |
| MMRRC Submission |
044539-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6390 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75180860-75192196 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 75187981 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 113
(P113Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040689]
[ENSMUST00000127625]
[ENSMUST00000145459]
[ENSMUST00000152233]
[ENSMUST00000186744]
[ENSMUST00000188347]
[ENSMUST00000189665]
[ENSMUST00000189702]
|
| AlphaFold |
Q68FE2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040689
AA Change: P113Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047449
Gene: ENSMUSG00000033124
AA Change: P113Q
| 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 |
probably benign
Transcript: ENSMUST00000127625
|
| SMART Domains |
Protein: ENSMUSP00000137179
Gene: ENSMUSG00000026199
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
45 |
N/A |
INTRINSIC |
|
Blast:ZnF_C2H2
|
96 |
120 |
1e-10 |
BLAST |
|
low complexity region
|
143 |
171 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131788
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134233
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134378
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145459
|
| SMART Domains |
Protein: ENSMUSP00000135971
Gene: ENSMUSG00000026199
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
45 |
N/A |
INTRINSIC |
|
Blast:ZnF_C2H2
|
96 |
120 |
1e-9 |
BLAST |
|
low complexity region
|
143 |
171 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151887
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152233
|
| SMART Domains |
Protein: ENSMUSP00000136163
Gene: ENSMUSG00000026199
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
45 |
N/A |
INTRINSIC |
|
Blast:ZnF_C2H2
|
96 |
120 |
6e-11 |
BLAST |
|
low complexity region
|
143 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
394 |
407 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
451 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
469 |
N/A |
INTRINSIC |
|
Blast:ANK
|
515 |
545 |
2e-9 |
BLAST |
|
ANK
|
556 |
585 |
6.81e-3 |
SMART |
|
coiled coil region
|
628 |
681 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185727
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186744
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187601
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187785
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188347
AA Change: P113Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139731
Gene: ENSMUSG00000033124
AA Change: P113Q
| 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 damaging
Transcript: ENSMUST00000189665
AA Change: P113Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140012
Gene: ENSMUSG00000033124
AA Change: P113Q
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
transmembrane domain
|
126 |
148 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189702
AA Change: P113Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139641
Gene: ENSMUSG00000033124
AA Change: P113Q
| 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 |
unknown
Transcript: ENSMUST00000189820
AA Change: P105Q
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188430
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
| Validation Efficiency |
100% (29/29) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc150 |
A |
G |
1: 54,368,017 (GRCm38) |
D1073G |
probably benign |
Het |
| Cd8a |
A |
G |
6: 71,373,929 (GRCm38) |
Y126C |
probably damaging |
Het |
| Cdca8 |
A |
G |
4: 124,936,375 (GRCm38) |
M68T |
probably damaging |
Het |
| Cyp2d26 |
G |
A |
15: 82,792,624 (GRCm38) |
P174S |
possibly damaging |
Het |
| Dnai3 |
A |
G |
3: 146,095,388 (GRCm38) |
L105P |
probably damaging |
Het |
| Esco1 |
T |
G |
18: 10,567,528 (GRCm38) |
N311H |
probably damaging |
Het |
| Evx1 |
A |
G |
6: 52,315,857 (GRCm38) |
M183V |
probably benign |
Het |
| Fam111a |
T |
G |
19: 12,588,160 (GRCm38) |
Y424* |
probably null |
Het |
| Fat4 |
T |
C |
3: 38,980,380 (GRCm38) |
I2727T |
probably damaging |
Het |
| Ggt6 |
T |
A |
11: 72,436,611 (GRCm38) |
Y107N |
possibly damaging |
Het |
| Habp2 |
G |
C |
19: 56,306,823 (GRCm38) |
E49Q |
possibly damaging |
Het |
| Hibadh |
A |
C |
6: 52,556,489 (GRCm38) |
L214R |
probably damaging |
Het |
| Ift57 |
T |
G |
16: 49,762,473 (GRCm38) |
|
probably null |
Het |
| Irak4 |
T |
C |
15: 94,561,486 (GRCm38) |
S328P |
probably damaging |
Het |
| Krtap6-2 |
A |
T |
16: 89,419,946 (GRCm38) |
Y44* |
probably null |
Het |
| Lrrc46 |
T |
C |
11: 97,040,931 (GRCm38) |
T22A |
probably damaging |
Het |
| Muc2 |
G |
T |
7: 141,752,146 (GRCm38) |
V230L |
probably damaging |
Het |
| Ncan |
T |
C |
8: 70,115,249 (GRCm38) |
D71G |
probably benign |
Het |
| Nsd2 |
T |
C |
5: 33,881,181 (GRCm38) |
S779P |
probably damaging |
Het |
| Rps6ka5 |
G |
T |
12: 100,570,992 (GRCm38) |
T493K |
probably damaging |
Het |
| Slc6a21 |
A |
T |
7: 45,287,002 (GRCm38) |
M135L |
probably benign |
Het |
| Sprtn |
A |
G |
8: 124,903,219 (GRCm38) |
N417S |
probably benign |
Het |
| Trim61 |
T |
A |
8: 65,014,190 (GRCm38) |
M140L |
probably benign |
Het |
| Vars1 |
C |
A |
17: 35,015,639 (GRCm38) |
A1148E |
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,268,463 (GRCm38) |
C558Y |
probably damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,605,249 (GRCm38) |
V495A |
probably benign |
Het |
| Vmn2r117 |
A |
T |
17: 23,460,114 (GRCm38) |
V712E |
possibly damaging |
Het |
| Wdfy4 |
T |
C |
14: 33,104,094 (GRCm38) |
D1200G |
probably damaging |
Het |
| Zbtb6 |
A |
T |
2: 37,428,678 (GRCm38) |
S413T |
probably benign |
Het |
| Zp2 |
G |
T |
7: 120,141,230 (GRCm38) |
N170K |
probably benign |
Het |
|
| Other mutations in Atg9a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01464:Atg9a
|
APN |
1 |
75,190,366 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02041:Atg9a
|
APN |
1 |
75,183,104 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
IGL03367:Atg9a
|
APN |
1 |
75,187,957 (GRCm38) |
missense |
probably benign |
0.18 |
|
PIT4494001:Atg9a
|
UTSW |
1 |
75,187,953 (GRCm38) |
nonsense |
probably null |
|
|
R0054:Atg9a
|
UTSW |
1 |
75,184,499 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0054:Atg9a
|
UTSW |
1 |
75,184,499 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0408:Atg9a
|
UTSW |
1 |
75,185,295 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0520:Atg9a
|
UTSW |
1 |
75,186,534 (GRCm38) |
nonsense |
probably null |
|
|
R0653:Atg9a
|
UTSW |
1 |
75,190,328 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0666:Atg9a
|
UTSW |
1 |
75,185,090 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0961:Atg9a
|
UTSW |
1 |
75,186,746 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1489:Atg9a
|
UTSW |
1 |
75,186,090 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1490:Atg9a
|
UTSW |
1 |
75,185,745 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R1692:Atg9a
|
UTSW |
1 |
75,190,355 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1997:Atg9a
|
UTSW |
1 |
75,189,626 (GRCm38) |
missense |
probably benign |
0.33 |
|
R2005:Atg9a
|
UTSW |
1 |
75,185,991 (GRCm38) |
missense |
probably benign |
0.18 |
|
R2172:Atg9a
|
UTSW |
1 |
75,185,685 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4004:Atg9a
|
UTSW |
1 |
75,186,451 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4105:Atg9a
|
UTSW |
1 |
75,185,959 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5010:Atg9a
|
UTSW |
1 |
75,186,060 (GRCm38) |
splice site |
probably null |
|
|
R5220:Atg9a
|
UTSW |
1 |
75,185,728 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5898:Atg9a
|
UTSW |
1 |
75,186,272 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6295:Atg9a
|
UTSW |
1 |
75,185,058 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7312:Atg9a
|
UTSW |
1 |
75,188,092 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7729:Atg9a
|
UTSW |
1 |
75,184,560 (GRCm38) |
missense |
probably benign |
0.34 |
|
R8111:Atg9a
|
UTSW |
1 |
75,187,722 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8210:Atg9a
|
UTSW |
1 |
75,186,365 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8210:Atg9a
|
UTSW |
1 |
75,185,283 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8256:Atg9a
|
UTSW |
1 |
75,186,919 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R8319:Atg9a
|
UTSW |
1 |
75,185,698 (GRCm38) |
nonsense |
probably null |
|
|
R8321:Atg9a
|
UTSW |
1 |
75,185,698 (GRCm38) |
nonsense |
probably null |
|
|
R8382:Atg9a
|
UTSW |
1 |
75,185,698 (GRCm38) |
nonsense |
probably null |
|
|
R8406:Atg9a
|
UTSW |
1 |
75,190,384 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8482:Atg9a
|
UTSW |
1 |
75,186,226 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8855:Atg9a
|
UTSW |
1 |
75,185,223 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8866:Atg9a
|
UTSW |
1 |
75,185,223 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9381:Atg9a
|
UTSW |
1 |
75,186,082 (GRCm38) |
missense |
probably benign |
|
|
R9441:Atg9a
|
UTSW |
1 |
75,186,442 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R9442:Atg9a
|
UTSW |
1 |
75,186,442 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R9448:Atg9a
|
UTSW |
1 |
75,186,205 (GRCm38) |
missense |
probably benign |
0.35 |
|
R9608:Atg9a
|
UTSW |
1 |
75,185,095 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R9703:Atg9a
|
UTSW |
1 |
75,185,787 (GRCm38) |
missense |
probably damaging |
0.98 |
|
RF021:Atg9a
|
UTSW |
1 |
75,182,629 (GRCm38) |
missense |
probably damaging |
0.96 |
|
Z1176:Atg9a
|
UTSW |
1 |
75,186,559 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGATCCAGAAGACACCAG -3'
(R):5'- ACTTGATTTCACCAGCGCC -3'
Sequencing Primer
(F):5'- GATGGTGATAAGAGAGCCATTTTCC -3'
(R):5'- AGCGCCTCTCTGACTCATGG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation