Incidental Mutation 'R2226:Atg9b'
| ID |
239720 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg9b
|
| Ensembl Gene |
ENSMUSG00000038295 |
| Gene Name |
autophagy related 9B |
| Synonyms |
Nos3as, Apg9l2, LOC213948, eONE |
| MMRRC Submission |
040227-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2226 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
24589179-24597141 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24591393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 735
(V735A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030834]
[ENSMUST00000059401]
[ENSMUST00000115090]
|
| AlphaFold |
Q6EBV9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030834
|
| SMART Domains |
Protein: ENSMUSP00000030834
Gene: ENSMUSG00000028978
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
57 |
N/A |
INTRINSIC |
|
Pfam:NO_synthase
|
118 |
480 |
1.7e-183 |
PFAM |
|
Pfam:Flavodoxin_1
|
521 |
697 |
4.8e-54 |
PFAM |
|
Pfam:FAD_binding_1
|
750 |
978 |
2.1e-82 |
PFAM |
|
Pfam:NAD_binding_1
|
1010 |
1124 |
1.9e-18 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059401
AA Change: V735A
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000051864
Gene: ENSMUSG00000038295
AA Change: V735A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
22 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
131 |
N/A |
INTRINSIC |
|
transmembrane domain
|
219 |
241 |
N/A |
INTRINSIC |
|
transmembrane domain
|
279 |
296 |
N/A |
INTRINSIC |
|
Pfam:APG9
|
321 |
681 |
1.2e-100 |
PFAM |
|
low complexity region
|
782 |
799 |
N/A |
INTRINSIC |
|
low complexity region
|
838 |
847 |
N/A |
INTRINSIC |
|
low complexity region
|
854 |
871 |
N/A |
INTRINSIC |
|
low complexity region
|
876 |
889 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115090
|
| SMART Domains |
Protein: ENSMUSP00000110742
Gene: ENSMUSG00000028978
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
57 |
N/A |
INTRINSIC |
|
Pfam:NO_synthase
|
114 |
485 |
9e-214 |
PFAM |
|
Pfam:Flavodoxin_1
|
521 |
697 |
3.8e-54 |
PFAM |
|
Pfam:FAD_binding_1
|
750 |
978 |
1.6e-79 |
PFAM |
|
Pfam:NAD_binding_1
|
1010 |
1091 |
5.6e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128831
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138716
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146326
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156403
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene functions in the regulation of autophagy, a lysosomal degradation pathway. This gene also functions as an antisense transcript in the posttranscriptional regulation of the endothelial nitric oxide synthase 3 gene, which has 3' overlap with this gene on the opposite strand. Mutations in this gene and disruption of the autophagy process have been associated with multiple cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
A |
T |
4: 144,190,295 (GRCm39) |
V2E |
possibly damaging |
Het |
| Aen |
C |
A |
7: 78,552,199 (GRCm39) |
T15K |
probably benign |
Het |
| Aggf1 |
A |
G |
13: 95,507,354 (GRCm39) |
S144P |
probably damaging |
Het |
| Ar |
T |
A |
X: 97,194,937 (GRCm39) |
M517K |
probably benign |
Het |
| Ascc3 |
A |
G |
10: 50,630,148 (GRCm39) |
T1746A |
probably benign |
Het |
| Atp1b3 |
A |
G |
9: 96,225,329 (GRCm39) |
F113S |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,604,917 (GRCm39) |
N1132S |
probably benign |
Het |
| Ccdc150 |
A |
G |
1: 54,404,084 (GRCm39) |
I943V |
probably null |
Het |
| Cntnap4 |
A |
G |
8: 113,542,120 (GRCm39) |
D751G |
probably damaging |
Het |
| Dgkk |
T |
A |
X: 6,741,487 (GRCm39) |
D102E |
probably damaging |
Het |
| Efhb |
A |
T |
17: 53,769,457 (GRCm39) |
|
probably null |
Het |
| Elfn2 |
A |
G |
15: 78,558,443 (GRCm39) |
W35R |
probably damaging |
Het |
| Emcn |
T |
C |
3: 137,109,778 (GRCm39) |
I140T |
possibly damaging |
Het |
| Epha2 |
G |
A |
4: 141,048,548 (GRCm39) |
R569H |
probably damaging |
Het |
| Gabrg2 |
A |
T |
11: 41,862,735 (GRCm39) |
F116L |
probably damaging |
Het |
| Gm11555 |
T |
G |
11: 99,540,585 (GRCm39) |
R141S |
unknown |
Het |
| Hectd3 |
T |
C |
4: 116,852,886 (GRCm39) |
I96T |
possibly damaging |
Het |
| Hnrnpul2 |
T |
A |
19: 8,802,349 (GRCm39) |
N405K |
probably damaging |
Het |
| Iigp1 |
A |
T |
18: 60,522,960 (GRCm39) |
K26I |
possibly damaging |
Het |
| Kirrel2 |
T |
C |
7: 30,153,579 (GRCm39) |
K260R |
probably damaging |
Het |
| Kpna1 |
G |
A |
16: 35,851,591 (GRCm39) |
A392T |
probably damaging |
Het |
| Krt19 |
T |
C |
11: 100,032,401 (GRCm39) |
E260G |
probably damaging |
Het |
| Marchf7 |
A |
G |
2: 60,060,190 (GRCm39) |
R106G |
probably benign |
Het |
| Mthfd2l |
G |
T |
5: 91,096,693 (GRCm39) |
E105* |
probably null |
Het |
| Mtus1 |
C |
T |
8: 41,535,812 (GRCm39) |
V635M |
probably damaging |
Het |
| Ndufaf5 |
T |
C |
2: 140,030,780 (GRCm39) |
V222A |
probably benign |
Het |
| Nkpd1 |
A |
T |
7: 19,253,745 (GRCm39) |
Y37F |
probably benign |
Het |
| Nsun7 |
T |
A |
5: 66,418,562 (GRCm39) |
Y97* |
probably null |
Het |
| Nxph3 |
T |
C |
11: 95,404,990 (GRCm39) |
Y17C |
probably benign |
Het |
| Or2l5 |
T |
C |
16: 19,333,996 (GRCm39) |
H130R |
probably benign |
Het |
| Or4k1 |
A |
G |
14: 50,378,076 (GRCm39) |
S7P |
probably damaging |
Het |
| Or51a5 |
A |
G |
7: 102,771,115 (GRCm39) |
M292T |
probably benign |
Het |
| Or5aq1 |
A |
C |
2: 86,966,590 (GRCm39) |
V25G |
possibly damaging |
Het |
| Or7g19 |
A |
T |
9: 18,856,177 (GRCm39) |
I78F |
probably damaging |
Het |
| P2rx2 |
A |
G |
5: 110,490,745 (GRCm39) |
F26S |
probably damaging |
Het |
| Pank1 |
A |
T |
19: 34,804,763 (GRCm39) |
L131Q |
probably damaging |
Het |
| Pcx |
T |
C |
19: 4,668,026 (GRCm39) |
I516T |
possibly damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,376,188 (GRCm39) |
I950T |
possibly damaging |
Het |
| Ppwd1 |
A |
G |
13: 104,353,753 (GRCm39) |
L335P |
probably damaging |
Het |
| Ptch1 |
A |
G |
13: 63,661,485 (GRCm39) |
S1218P |
probably damaging |
Het |
| Ptpn4 |
C |
T |
1: 119,610,515 (GRCm39) |
R664Q |
probably damaging |
Het |
| Semp2l1 |
A |
T |
1: 32,584,934 (GRCm39) |
H325Q |
probably damaging |
Het |
| Sfxn1 |
A |
G |
13: 54,239,536 (GRCm39) |
T20A |
possibly damaging |
Het |
| Sgsm3 |
A |
G |
15: 80,888,069 (GRCm39) |
E53G |
probably damaging |
Het |
| Slc22a19 |
C |
T |
19: 7,661,215 (GRCm39) |
V320M |
possibly damaging |
Het |
| Slc25a33 |
A |
T |
4: 149,838,306 (GRCm39) |
I122N |
probably benign |
Het |
| Spata31d1a |
T |
A |
13: 59,851,529 (GRCm39) |
I200L |
probably benign |
Het |
| Spin2g |
A |
T |
X: 33,656,599 (GRCm39) |
I171N |
possibly damaging |
Het |
| Srsf6 |
G |
A |
2: 162,773,619 (GRCm39) |
S10N |
probably damaging |
Het |
| Tesl2 |
T |
A |
X: 23,825,173 (GRCm39) |
M1L |
probably null |
Het |
| Thoc2l |
T |
A |
5: 104,667,286 (GRCm39) |
Y603N |
probably damaging |
Het |
| Ttc12 |
A |
G |
9: 49,353,135 (GRCm39) |
|
probably null |
Het |
| Vmn2r100 |
A |
G |
17: 19,742,634 (GRCm39) |
K336R |
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,701,295 (GRCm39) |
Y68* |
probably null |
Het |
| Zfp738 |
A |
G |
13: 67,818,431 (GRCm39) |
F520S |
probably damaging |
Het |
|
| Other mutations in Atg9b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01739:Atg9b
|
APN |
5 |
24,591,513 (GRCm39) |
splice site |
probably null |
|
|
IGL02020:Atg9b
|
APN |
5 |
24,596,056 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
PIT4418001:Atg9b
|
UTSW |
5 |
24,590,513 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0045:Atg9b
|
UTSW |
5 |
24,592,396 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1698:Atg9b
|
UTSW |
5 |
24,593,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1807:Atg9b
|
UTSW |
5 |
24,592,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1885:Atg9b
|
UTSW |
5 |
24,593,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2183:Atg9b
|
UTSW |
5 |
24,595,491 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2224:Atg9b
|
UTSW |
5 |
24,591,393 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2227:Atg9b
|
UTSW |
5 |
24,591,393 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2426:Atg9b
|
UTSW |
5 |
24,591,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2919:Atg9b
|
UTSW |
5 |
24,596,542 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3003:Atg9b
|
UTSW |
5 |
24,596,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4772:Atg9b
|
UTSW |
5 |
24,590,237 (GRCm39) |
makesense |
probably null |
|
|
R4786:Atg9b
|
UTSW |
5 |
24,591,087 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5901:Atg9b
|
UTSW |
5 |
24,597,017 (GRCm39) |
unclassified |
probably benign |
|
|
R6410:Atg9b
|
UTSW |
5 |
24,591,108 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6505:Atg9b
|
UTSW |
5 |
24,595,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7215:Atg9b
|
UTSW |
5 |
24,593,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8134:Atg9b
|
UTSW |
5 |
24,590,220 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8219:Atg9b
|
UTSW |
5 |
24,591,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8257:Atg9b
|
UTSW |
5 |
24,591,303 (GRCm39) |
unclassified |
probably benign |
|
|
R8460:Atg9b
|
UTSW |
5 |
24,591,966 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8671:Atg9b
|
UTSW |
5 |
24,591,107 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8774:Atg9b
|
UTSW |
5 |
24,595,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8774-TAIL:Atg9b
|
UTSW |
5 |
24,595,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8870:Atg9b
|
UTSW |
5 |
24,592,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8956:Atg9b
|
UTSW |
5 |
24,591,850 (GRCm39) |
unclassified |
probably benign |
|
|
R8966:Atg9b
|
UTSW |
5 |
24,596,200 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8969:Atg9b
|
UTSW |
5 |
24,592,832 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9521:Atg9b
|
UTSW |
5 |
24,593,107 (GRCm39) |
missense |
probably benign |
|
|
R9638:Atg9b
|
UTSW |
5 |
24,596,406 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Z1177:Atg9b
|
UTSW |
5 |
24,596,785 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAGATATGATGGGTTGAGCC -3'
(R):5'- CTGCCTAGCTGAATCTTGGTG -3'
Sequencing Primer
(F):5'- ATGGGTTGAGCCTGGCTGC -3'
(R):5'- TGGTGTCCCTAATACCAGAAGGAC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation