Incidental Mutation 'R5220:Atg9a'
| ID |
402252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg9a
|
| Ensembl Gene |
ENSMUSG00000033124 |
| Gene Name |
autophagy related 9A |
| Synonyms |
Apg9l1 |
| MMRRC Submission |
042793-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5220 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
75157509-75168654 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 75162372 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 505
(V505M)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040689]
[ENSMUST00000186744]
[ENSMUST00000188347]
[ENSMUST00000189702]
[ENSMUST00000189665]
|
| AlphaFold |
Q68FE2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040689
AA Change: V513M
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000047449
Gene: ENSMUSG00000033124
AA Change: V513M
| 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: ENSMUST00000185727
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186744
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187601
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187785
AA Change: V72M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188347
AA Change: V513M
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139731
Gene: ENSMUSG00000033124
AA Change: V513M
| 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 damaging
Transcript: ENSMUST00000189702
AA Change: V513M
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139641
Gene: ENSMUSG00000033124
AA Change: V513M
| 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: ENSMUST00000189820
AA Change: V505M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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 |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,738,045 (GRCm39) |
E250G |
probably damaging |
Het |
| Adgra1 |
A |
G |
7: 139,455,512 (GRCm39) |
N380S |
probably benign |
Het |
| Ap3d1 |
G |
A |
10: 80,563,001 (GRCm39) |
P160L |
probably damaging |
Het |
| Chsy3 |
A |
T |
18: 59,543,102 (GRCm39) |
I747F |
probably damaging |
Het |
| Clec2g |
A |
G |
6: 128,958,269 (GRCm39) |
S100G |
probably benign |
Het |
| Cmya5 |
G |
T |
13: 93,228,804 (GRCm39) |
P2095T |
probably damaging |
Het |
| Dcaf10 |
T |
C |
4: 45,373,909 (GRCm39) |
W445R |
possibly damaging |
Het |
| Espl1 |
T |
A |
15: 102,207,012 (GRCm39) |
L159M |
probably benign |
Het |
| Fbxw8 |
T |
C |
5: 118,233,776 (GRCm39) |
D285G |
possibly damaging |
Het |
| Fras1 |
C |
T |
5: 96,916,222 (GRCm39) |
R3419W |
probably damaging |
Het |
| Galc |
T |
A |
12: 98,197,672 (GRCm39) |
|
probably null |
Het |
| Ghdc |
T |
C |
11: 100,660,543 (GRCm39) |
E110G |
probably damaging |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| H2-T24 |
T |
C |
17: 36,325,562 (GRCm39) |
T309A |
probably benign |
Het |
| Helb |
A |
C |
10: 119,937,391 (GRCm39) |
F618V |
probably damaging |
Het |
| Hycc1 |
A |
C |
5: 24,170,220 (GRCm39) |
S376R |
possibly damaging |
Het |
| Ifi211 |
A |
G |
1: 173,735,262 (GRCm39) |
F56L |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,950,160 (GRCm39) |
F1988L |
probably damaging |
Het |
| Mapk13 |
G |
A |
17: 28,997,465 (GRCm39) |
S361N |
probably benign |
Het |
| Mapk3 |
A |
G |
7: 126,363,408 (GRCm39) |
I146V |
probably benign |
Het |
| Megf6 |
G |
A |
4: 154,338,295 (GRCm39) |
|
probably null |
Het |
| Mug1 |
G |
T |
6: 121,838,092 (GRCm39) |
V441F |
probably benign |
Het |
| Mymk |
A |
G |
2: 26,952,226 (GRCm39) |
S173P |
probably benign |
Het |
| Nox4 |
A |
G |
7: 87,023,616 (GRCm39) |
T501A |
possibly damaging |
Het |
| Or13c7 |
C |
A |
4: 43,854,624 (GRCm39) |
S105Y |
possibly damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or52n2 |
T |
C |
7: 104,542,104 (GRCm39) |
T244A |
possibly damaging |
Het |
| Prkcb |
C |
A |
7: 121,888,678 (GRCm39) |
H37Q |
probably damaging |
Het |
| Rabggtb |
A |
G |
3: 153,615,024 (GRCm39) |
F189L |
probably damaging |
Het |
| Setd1b |
T |
C |
5: 123,281,471 (GRCm39) |
I75T |
unknown |
Het |
| Slc10a5 |
T |
A |
3: 10,400,148 (GRCm39) |
R171* |
probably null |
Het |
| Slc12a4 |
A |
G |
8: 106,680,484 (GRCm39) |
F211L |
probably damaging |
Het |
| Slc1a5 |
T |
A |
7: 16,527,759 (GRCm39) |
W352R |
probably damaging |
Het |
| Slc22a27 |
C |
G |
19: 7,843,303 (GRCm39) |
A359P |
probably damaging |
Het |
| St8sia4 |
A |
G |
1: 95,555,460 (GRCm39) |
M190T |
probably damaging |
Het |
| Tmeff2 |
A |
G |
1: 51,018,476 (GRCm39) |
M153V |
probably benign |
Het |
| Trappc12 |
T |
C |
12: 28,796,696 (GRCm39) |
T279A |
probably damaging |
Het |
| Ubn1 |
G |
T |
16: 4,895,818 (GRCm39) |
A955S |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,239,500 (GRCm39) |
H1147Q |
possibly damaging |
Het |
| Vrk1 |
T |
A |
12: 106,039,865 (GRCm39) |
|
probably null |
Het |
| Zdhhc25 |
T |
A |
15: 88,485,365 (GRCm39) |
Y233* |
probably null |
Het |
| Zfp109 |
A |
G |
7: 23,928,179 (GRCm39) |
V418A |
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 |
|
IGL02041:Atg9a
|
APN |
1 |
75,159,748 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGTCAGTCACTTGAACTG -3'
(R):5'- TGCTAGAGACTGGCTGGTATC -3'
Sequencing Primer
(F):5'- GAATCCAGTCAGATTCCTGGTGAC -3'
(R):5'- CTAGAGACTGGCTGGTATCTTGGTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation