Incidental Mutation 'R8321:Atg9a'
ID |
641933 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atg9a
|
Ensembl Gene |
ENSMUSG00000033124 |
Gene Name |
autophagy related 9A |
Synonyms |
Apg9l1 |
MMRRC Submission |
067723-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8321 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
75157509-75168654 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 75162342 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 523
(Q523*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040689]
[ENSMUST00000186744]
[ENSMUST00000188347]
[ENSMUST00000189665]
[ENSMUST00000189702]
|
AlphaFold |
Q68FE2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000040689
AA Change: Q523*
|
SMART Domains |
Protein: ENSMUSP00000047449 Gene: ENSMUSG00000033124 AA Change: Q523*
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: ENSMUST00000186744
|
Predicted Effect |
probably null
Transcript: ENSMUST00000187785
AA Change: Q82*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000188347
AA Change: Q523*
|
SMART Domains |
Protein: ENSMUSP00000139731 Gene: ENSMUSG00000033124 AA Change: Q523*
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: 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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000189702
AA Change: Q523*
|
SMART Domains |
Protein: ENSMUSP00000139641 Gene: ENSMUSG00000033124 AA Change: Q523*
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 null
Transcript: ENSMUST00000189820
AA Change: Q515*
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap44 |
A |
G |
11: 64,899,053 (GRCm39) |
V708A |
probably benign |
Het |
Bank1 |
T |
A |
3: 135,940,395 (GRCm39) |
E329V |
possibly damaging |
Het |
Ccdc162 |
C |
A |
10: 41,510,029 (GRCm39) |
A859S |
probably damaging |
Het |
Cdh11 |
T |
C |
8: 103,361,416 (GRCm39) |
R641G |
probably damaging |
Het |
Cfap58 |
A |
G |
19: 47,946,586 (GRCm39) |
E373G |
probably damaging |
Het |
Chd8 |
T |
C |
14: 52,470,024 (GRCm39) |
T529A |
probably benign |
Het |
Chtf18 |
G |
A |
17: 25,939,865 (GRCm39) |
T747I |
probably benign |
Het |
Cyp2j6 |
A |
G |
4: 96,441,684 (GRCm39) |
L2P |
probably benign |
Het |
Cyp4f18 |
G |
A |
8: 72,742,427 (GRCm39) |
P518S |
possibly damaging |
Het |
Dmrtc1a |
G |
A |
X: 101,952,221 (GRCm39) |
R8W |
probably benign |
Het |
Dpyd |
T |
C |
3: 118,575,573 (GRCm39) |
V137A |
possibly damaging |
Het |
Epha6 |
A |
G |
16: 59,736,317 (GRCm39) |
V739A |
probably damaging |
Het |
Ern2 |
C |
T |
7: 121,772,431 (GRCm39) |
A676T |
probably damaging |
Het |
Fam20c |
A |
T |
5: 138,743,686 (GRCm39) |
I241F |
possibly damaging |
Het |
Fastkd2 |
A |
G |
1: 63,787,138 (GRCm39) |
H524R |
probably benign |
Het |
Foxq1 |
T |
C |
13: 31,743,251 (GRCm39) |
Y118H |
probably damaging |
Het |
Gfm1 |
C |
T |
3: 67,337,594 (GRCm39) |
A8V |
probably benign |
Het |
Gfm2 |
C |
T |
13: 97,299,500 (GRCm39) |
T407M |
possibly damaging |
Het |
Gldc |
G |
A |
19: 30,120,807 (GRCm39) |
Q375* |
probably null |
Het |
Gm5114 |
A |
G |
7: 39,060,273 (GRCm39) |
I192T |
possibly damaging |
Het |
Gnb1 |
A |
T |
4: 155,639,482 (GRCm39) |
N237I |
possibly damaging |
Het |
Herc2 |
C |
T |
7: 55,879,096 (GRCm39) |
P4662S |
possibly damaging |
Het |
Herc3 |
C |
T |
6: 58,820,754 (GRCm39) |
S46F |
possibly damaging |
Het |
Hgsnat |
C |
T |
8: 26,461,179 (GRCm39) |
G153E |
possibly damaging |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Igkv2-137 |
GA |
GAA |
6: 67,533,154 (GRCm39) |
|
probably null |
Het |
Invs |
T |
A |
4: 48,283,267 (GRCm39) |
D6E |
probably benign |
Het |
Jakmip3 |
T |
C |
7: 138,628,613 (GRCm39) |
V463A |
probably benign |
Het |
Jarid2 |
T |
A |
13: 45,001,862 (GRCm39) |
S96R |
probably damaging |
Het |
Krtap6-1 |
A |
C |
16: 88,828,624 (GRCm39) |
N7H |
unknown |
Het |
Matn4 |
A |
T |
2: 164,235,207 (GRCm39) |
V455D |
probably damaging |
Het |
Nbea |
G |
A |
3: 56,090,518 (GRCm39) |
P47S |
possibly damaging |
Het |
Oit3 |
T |
C |
10: 59,263,982 (GRCm39) |
H384R |
probably benign |
Het |
Or1e27-ps1 |
G |
A |
11: 73,556,362 (GRCm39) |
R309H |
unknown |
Het |
Or8b42 |
A |
T |
9: 38,341,850 (GRCm39) |
I91F |
probably damaging |
Het |
Pabpc4l |
T |
A |
3: 46,400,729 (GRCm39) |
D305V |
probably damaging |
Het |
Papln |
G |
A |
12: 83,821,715 (GRCm39) |
W314* |
probably null |
Het |
Pask |
G |
A |
1: 93,248,377 (GRCm39) |
R975C |
possibly damaging |
Het |
Pate13 |
G |
T |
9: 35,820,749 (GRCm39) |
C111F |
probably damaging |
Het |
Plce1 |
A |
G |
19: 38,640,380 (GRCm39) |
N542S |
probably benign |
Het |
Rasal1 |
C |
T |
5: 120,804,420 (GRCm39) |
R431C |
probably benign |
Het |
Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
Sez6l2 |
C |
A |
7: 126,557,588 (GRCm39) |
T334N |
probably damaging |
Het |
Sh3d19 |
A |
G |
3: 86,001,071 (GRCm39) |
T256A |
probably damaging |
Het |
Slit2 |
A |
T |
5: 48,387,609 (GRCm39) |
N545Y |
probably damaging |
Het |
Sprtn |
A |
T |
8: 125,629,994 (GRCm39) |
D429V |
possibly damaging |
Het |
Srcap |
T |
C |
7: 127,140,068 (GRCm39) |
V1389A |
probably damaging |
Het |
Tecta |
C |
A |
9: 42,284,349 (GRCm39) |
C912F |
probably damaging |
Het |
Tns1 |
T |
A |
1: 74,024,939 (GRCm39) |
|
probably null |
Het |
Tprg1l |
A |
G |
4: 154,244,860 (GRCm39) |
V76A |
probably benign |
Het |
Trav12-2 |
G |
T |
14: 53,853,840 (GRCm39) |
|
probably benign |
Het |
Trio |
T |
C |
15: 27,881,412 (GRCm39) |
D612G |
possibly damaging |
Het |
Usp6nl |
A |
T |
2: 6,395,900 (GRCm39) |
Q36H |
possibly damaging |
Het |
Vps9d1 |
A |
T |
8: 123,975,544 (GRCm39) |
M167K |
possibly damaging |
Het |
Zfhx4 |
T |
A |
3: 5,466,187 (GRCm39) |
L2140Q |
probably damaging |
Het |
Zfp512b |
A |
G |
2: 181,228,931 (GRCm39) |
V678A |
possibly damaging |
Het |
Zfp800 |
A |
G |
6: 28,242,992 (GRCm39) |
S658P |
probably damaging |
Het |
Zscan22 |
A |
G |
7: 12,637,625 (GRCm39) |
S6G |
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 |
|
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 |
|
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'- CTGCTAGAGACTGGCTGGTATC -3'
Sequencing Primer
(F):5'- GAATCCAGTCAGATTCCTGGTGAC -3'
(R):5'- GTCCTGCTTGCGGGTAAC -3'
|
Posted On |
2020-07-28 |