Incidental Mutation 'R2172:Atg9a'
ID |
237518 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atg9a
|
Ensembl Gene |
ENSMUSG00000033124 |
Gene Name |
autophagy related 9A |
Synonyms |
Apg9l1 |
MMRRC Submission |
040174-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2172 (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 A
at 75162329 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 527
(R527L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139641
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040689]
[ENSMUST00000186744]
[ENSMUST00000188347]
[ENSMUST00000189702]
[ENSMUST00000189665]
|
AlphaFold |
Q68FE2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040689
AA Change: R527L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000047449 Gene: ENSMUSG00000033124 AA Change: R527L
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 |
unknown
Transcript: ENSMUST00000187785
AA Change: R86L
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000188347
AA Change: R527L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000139731 Gene: ENSMUSG00000033124 AA Change: R527L
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: ENSMUST00000189702
AA Change: R527L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000139641 Gene: ENSMUSG00000033124 AA Change: R527L
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: R519L
|
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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arap3 |
T |
A |
18: 38,123,613 (GRCm39) |
E441V |
probably damaging |
Het |
Arfip2 |
T |
A |
7: 105,287,195 (GRCm39) |
D64V |
probably damaging |
Het |
Atp1a1 |
T |
G |
3: 101,497,864 (GRCm39) |
I308L |
probably benign |
Het |
Bcan |
T |
A |
3: 87,903,888 (GRCm39) |
Y199F |
probably damaging |
Het |
Bsn |
T |
C |
9: 107,987,191 (GRCm39) |
|
probably benign |
Het |
Ccdc158 |
A |
T |
5: 92,780,367 (GRCm39) |
L902H |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,163,672 (GRCm39) |
Y492C |
probably benign |
Het |
Dnah9 |
G |
T |
11: 65,963,605 (GRCm39) |
H1783N |
probably damaging |
Het |
Dpep2 |
A |
G |
8: 106,715,630 (GRCm39) |
V320A |
possibly damaging |
Het |
Dsc2 |
A |
G |
18: 20,178,559 (GRCm39) |
Y282H |
probably damaging |
Het |
Egfr |
C |
T |
11: 16,861,562 (GRCm39) |
P1114S |
probably benign |
Het |
Fastkd1 |
A |
G |
2: 69,530,477 (GRCm39) |
S560P |
probably damaging |
Het |
Gm14295 |
G |
A |
2: 176,502,895 (GRCm39) |
R795Q |
possibly damaging |
Het |
Gpr155 |
C |
T |
2: 73,212,471 (GRCm39) |
V51I |
probably benign |
Het |
Gsap |
G |
A |
5: 21,427,438 (GRCm39) |
|
probably null |
Het |
Hecw1 |
T |
A |
13: 14,552,291 (GRCm39) |
I103F |
probably damaging |
Het |
Herc3 |
T |
A |
6: 58,864,422 (GRCm39) |
N685K |
probably damaging |
Het |
Hnrnph1 |
T |
A |
11: 50,273,643 (GRCm39) |
D244E |
probably benign |
Het |
Hydin |
A |
G |
8: 111,308,681 (GRCm39) |
E3989G |
probably benign |
Het |
Ibsp |
T |
C |
5: 104,458,296 (GRCm39) |
Y278H |
probably damaging |
Het |
Ift57 |
T |
G |
16: 49,579,703 (GRCm39) |
N291K |
probably benign |
Het |
Il15ra |
A |
G |
2: 11,728,382 (GRCm39) |
T149A |
possibly damaging |
Het |
Ints5 |
C |
T |
19: 8,873,646 (GRCm39) |
T535I |
possibly damaging |
Het |
Jarid2 |
T |
C |
13: 45,056,015 (GRCm39) |
L268P |
probably damaging |
Het |
Klhdc7a |
T |
A |
4: 139,693,121 (GRCm39) |
T609S |
probably benign |
Het |
Lrrc49 |
A |
G |
9: 60,509,965 (GRCm39) |
V429A |
probably benign |
Het |
Lsm3 |
T |
C |
6: 91,499,254 (GRCm39) |
V87A |
possibly damaging |
Het |
Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
Map1a |
G |
T |
2: 121,138,413 (GRCm39) |
V2726L |
probably damaging |
Het |
Marveld3 |
A |
C |
8: 110,688,478 (GRCm39) |
S88A |
probably benign |
Het |
Mcm9 |
T |
C |
10: 53,424,670 (GRCm39) |
D640G |
probably damaging |
Het |
Mettl4 |
A |
G |
17: 95,040,591 (GRCm39) |
I399T |
probably benign |
Het |
Mmp27 |
T |
A |
9: 7,577,379 (GRCm39) |
L274* |
probably null |
Het |
Nacc2 |
A |
C |
2: 25,950,235 (GRCm39) |
D500E |
probably benign |
Het |
Nprl3 |
T |
A |
11: 32,184,894 (GRCm39) |
M372L |
probably benign |
Het |
Or5p6 |
A |
T |
7: 107,630,674 (GRCm39) |
I292N |
probably damaging |
Het |
Otud7b |
T |
G |
3: 96,060,837 (GRCm39) |
|
probably null |
Het |
Pcx |
G |
A |
19: 4,670,909 (GRCm39) |
R1070H |
probably benign |
Het |
Ptprq |
C |
T |
10: 107,426,855 (GRCm39) |
W1560* |
probably null |
Het |
Puf60 |
A |
T |
15: 75,942,313 (GRCm39) |
I520N |
probably damaging |
Het |
Qars1 |
C |
T |
9: 108,386,399 (GRCm39) |
R143C |
probably damaging |
Het |
Rfx3 |
G |
A |
19: 27,792,894 (GRCm39) |
Q322* |
probably null |
Het |
Samd14 |
G |
T |
11: 94,905,217 (GRCm39) |
V10L |
probably benign |
Het |
Setd2 |
G |
A |
9: 110,378,912 (GRCm39) |
R909Q |
probably benign |
Het |
Sh2d4a |
T |
C |
8: 68,749,316 (GRCm39) |
S117P |
probably benign |
Het |
Sharpin |
C |
A |
15: 76,234,866 (GRCm39) |
|
probably benign |
Het |
Skor1 |
C |
A |
9: 63,052,404 (GRCm39) |
A494S |
possibly damaging |
Het |
Slc41a2 |
T |
C |
10: 83,119,638 (GRCm39) |
T375A |
probably benign |
Het |
Sparc |
G |
A |
11: 55,286,627 (GRCm39) |
Q324* |
probably null |
Het |
Spopfm2 |
T |
G |
3: 94,083,605 (GRCm39) |
K69Q |
possibly damaging |
Het |
Srebf1 |
T |
C |
11: 60,097,328 (GRCm39) |
T171A |
probably benign |
Het |
Srrd |
A |
G |
5: 112,488,988 (GRCm39) |
I54T |
possibly damaging |
Het |
Tecpr1 |
G |
T |
5: 144,133,235 (GRCm39) |
Q1072K |
probably damaging |
Het |
Tecpr1 |
A |
T |
5: 144,148,274 (GRCm39) |
V377E |
probably benign |
Het |
Tln1 |
T |
A |
4: 43,545,721 (GRCm39) |
H919L |
probably benign |
Het |
Tm9sf3 |
C |
T |
19: 41,205,859 (GRCm39) |
S516N |
probably damaging |
Het |
Trpa1 |
T |
A |
1: 14,951,880 (GRCm39) |
T940S |
probably benign |
Het |
Trpv4 |
G |
A |
5: 114,782,771 (GRCm39) |
R64C |
probably damaging |
Het |
Tufm |
A |
G |
7: 126,088,019 (GRCm39) |
E174G |
probably benign |
Het |
Urb2 |
A |
G |
8: 124,757,841 (GRCm39) |
T1183A |
probably damaging |
Het |
Virma |
A |
T |
4: 11,527,843 (GRCm39) |
M1245L |
possibly damaging |
Het |
Vmn2r32 |
T |
C |
7: 7,477,614 (GRCm39) |
Y259C |
probably damaging |
Het |
Zfp329 |
A |
G |
7: 12,544,694 (GRCm39) |
F277L |
probably damaging |
Het |
Zfp683 |
C |
T |
4: 133,783,106 (GRCm39) |
T190I |
possibly damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGGGTCAGTCACTTGAACTG -3'
(R):5'- CTGCTAGAGACTGGCTGGTATC -3'
Sequencing Primer
(F):5'- GAATCCAGTCAGATTCCTGGTGAC -3'
(R):5'- GTCCTGCTTGCGGGTAAC -3'
|
Posted On |
2014-10-02 |