Incidental Mutation 'R8210:Atg9a'
| ID |
636092 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg9a
|
| Ensembl Gene |
ENSMUSG00000033124 |
| Gene Name |
autophagy related 9A |
| Synonyms |
Apg9l1 |
| MMRRC Submission |
067633-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8210 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75157509-75168654 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75163009 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 364
(Y364H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040689]
[ENSMUST00000186744]
[ENSMUST00000188347]
[ENSMUST00000189665]
[ENSMUST00000189702]
|
| AlphaFold |
Q68FE2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040689
AA Change: Y364H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047449
Gene: ENSMUSG00000033124
AA Change: Y364H
| 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 benign
Transcript: ENSMUST00000187785
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188347
AA Change: Y364H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139731
Gene: ENSMUSG00000033124
AA Change: Y364H
| 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 damaging
Transcript: ENSMUST00000189702
AA Change: Y364H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139641
Gene: ENSMUSG00000033124
AA Change: Y364H
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (63/63) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
G |
A |
9: 54,517,083 (GRCm39) |
P577S |
probably damaging |
Het |
| Adal |
T |
C |
2: 120,985,236 (GRCm39) |
V269A |
possibly damaging |
Het |
| Adam33 |
T |
C |
2: 130,898,250 (GRCm39) |
T155A |
probably benign |
Het |
| Adgre1 |
A |
T |
17: 57,752,061 (GRCm39) |
E603V |
possibly damaging |
Het |
| Adgrf4 |
T |
C |
17: 42,978,441 (GRCm39) |
T301A |
probably damaging |
Het |
| Agtpbp1 |
G |
T |
13: 59,630,385 (GRCm39) |
A782E |
possibly damaging |
Het |
| Ank3 |
A |
T |
10: 69,811,925 (GRCm39) |
K1197N |
possibly damaging |
Het |
| Anxa9 |
A |
T |
3: 95,213,207 (GRCm39) |
D46E |
probably damaging |
Het |
| Bltp1 |
A |
C |
3: 37,067,030 (GRCm39) |
E73A |
|
Het |
| Cd300c2 |
C |
T |
11: 114,891,634 (GRCm39) |
G80D |
possibly damaging |
Het |
| Cebpz |
T |
C |
17: 79,230,685 (GRCm39) |
E844G |
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,863,436 (GRCm39) |
I1199V |
probably benign |
Het |
| Cftr |
A |
G |
6: 18,220,696 (GRCm39) |
N189S |
probably damaging |
Het |
| Dhrs13 |
G |
T |
11: 77,924,302 (GRCm39) |
R116I |
unknown |
Het |
| Dnah10 |
A |
G |
5: 124,827,858 (GRCm39) |
M735V |
probably benign |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| E130208F15Rik |
C |
A |
7: 30,021,619 (GRCm39) |
S93* |
probably null |
Het |
| E330034G19Rik |
T |
C |
14: 24,346,104 (GRCm39) |
I92T |
|
Het |
| Eef1d |
A |
T |
15: 75,768,309 (GRCm39) |
V511D |
probably damaging |
Het |
| Efna1 |
T |
G |
3: 89,183,520 (GRCm39) |
E102A |
probably damaging |
Het |
| H2-M11 |
C |
A |
17: 36,858,860 (GRCm39) |
F133L |
probably damaging |
Het |
| Htr3b |
G |
T |
9: 48,847,343 (GRCm39) |
|
probably null |
Het |
| Kcns3 |
A |
G |
12: 11,142,253 (GRCm39) |
S149P |
probably damaging |
Het |
| Lhx4 |
T |
A |
1: 155,586,214 (GRCm39) |
|
probably null |
Het |
| Lrp1 |
C |
T |
10: 127,412,354 (GRCm39) |
V1317M |
probably damaging |
Het |
| Mphosph9 |
A |
G |
5: 124,405,174 (GRCm39) |
I799T |
probably damaging |
Het |
| Muc1 |
C |
T |
3: 89,138,906 (GRCm39) |
A505V |
probably damaging |
Het |
| Muc6 |
C |
A |
7: 141,235,673 (GRCm39) |
|
probably null |
Het |
| Mylk |
A |
G |
16: 34,820,721 (GRCm39) |
D1891G |
probably damaging |
Het |
| Nfe2l3 |
A |
T |
6: 51,428,065 (GRCm39) |
H209L |
probably benign |
Het |
| Nprl2 |
A |
C |
9: 107,421,947 (GRCm39) |
Y241S |
probably damaging |
Het |
| Oprm1 |
A |
T |
10: 6,780,442 (GRCm39) |
Q368L |
probably benign |
Het |
| Or4g7 |
T |
A |
2: 111,309,753 (GRCm39) |
M208K |
possibly damaging |
Het |
| Pcm1 |
C |
T |
8: 41,766,974 (GRCm39) |
R1593C |
probably damaging |
Het |
| Pitpnm1 |
T |
C |
19: 4,162,878 (GRCm39) |
|
probably null |
Het |
| Pnoc |
A |
G |
14: 65,642,521 (GRCm39) |
S81P |
probably benign |
Het |
| Prkg2 |
T |
A |
5: 99,114,393 (GRCm39) |
D585V |
probably damaging |
Het |
| Prpf38b |
A |
T |
3: 108,815,148 (GRCm39) |
|
probably benign |
Het |
| Ranbp3l |
G |
T |
15: 9,065,059 (GRCm39) |
S482I |
probably benign |
Het |
| Rapgef4 |
T |
C |
2: 72,056,364 (GRCm39) |
F651L |
probably benign |
Het |
| Rasgrf1 |
A |
G |
9: 89,793,675 (GRCm39) |
T151A |
unknown |
Het |
| Rnf215 |
T |
C |
11: 4,085,544 (GRCm39) |
L91P |
possibly damaging |
Het |
| Rph3a |
T |
C |
5: 121,099,312 (GRCm39) |
H193R |
probably benign |
Het |
| Rps17 |
C |
T |
7: 80,994,750 (GRCm39) |
V4I |
probably benign |
Het |
| Sec61a2 |
A |
T |
2: 5,881,728 (GRCm39) |
F234Y |
possibly damaging |
Het |
| Serpinb8 |
T |
C |
1: 107,526,736 (GRCm39) |
L92P |
probably damaging |
Het |
| Slc1a6 |
A |
T |
10: 78,632,091 (GRCm39) |
I306F |
possibly damaging |
Het |
| Slc26a11 |
T |
C |
11: 119,270,692 (GRCm39) |
V538A |
possibly damaging |
Het |
| Slc27a1 |
G |
A |
8: 72,032,566 (GRCm39) |
S193N |
probably benign |
Het |
| Slc9b1 |
T |
C |
3: 135,097,948 (GRCm39) |
S393P |
probably damaging |
Het |
| Slfn3 |
T |
A |
11: 83,105,332 (GRCm39) |
I320K |
possibly damaging |
Het |
| Spata31f1a |
T |
A |
4: 42,848,542 (GRCm39) |
M1205L |
probably benign |
Het |
| Tgfbr1 |
A |
T |
4: 47,406,924 (GRCm39) |
I420F |
probably benign |
Het |
| Tnik |
A |
T |
3: 28,658,482 (GRCm39) |
D589V |
possibly damaging |
Het |
| Trappc8 |
A |
C |
18: 21,006,938 (GRCm39) |
|
probably null |
Het |
| Ttbk1 |
A |
G |
17: 46,791,087 (GRCm39) |
S66P |
possibly damaging |
Het |
| Unc13c |
A |
G |
9: 73,392,220 (GRCm39) |
V2044A |
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,741,045 (GRCm39) |
E735G |
probably benign |
Het |
| Vmn2r-ps158 |
T |
A |
7: 42,673,462 (GRCm39) |
N180K |
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,302,037 (GRCm39) |
V1853D |
probably damaging |
Het |
| Zkscan17 |
A |
G |
11: 59,394,574 (GRCm39) |
V9A |
probably 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 |
|
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 |
75,161,927 (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'- AAGCCTTTCCCAGAATGCC -3'
(R):5'- ATCTGGCAGATCCTCTATGCC -3'
Sequencing Primer
(F):5'- AGAATGCCACTCTGCTATTCC -3'
(R):5'- CTTCTTCAGCTATGCCGAGGTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation