Incidental Mutation 'R9442:Atg9a'
| ID |
713671 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg9a
|
| Ensembl Gene |
ENSMUSG00000033124 |
| Gene Name |
autophagy related 9A |
| Synonyms |
Apg9l1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9442 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75157509-75168654 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 75163086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 338
(C338Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040689]
[ENSMUST00000186744]
[ENSMUST00000188347]
[ENSMUST00000189665]
[ENSMUST00000189702]
|
| AlphaFold |
Q68FE2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040689
AA Change: C338Y
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000047449
Gene: ENSMUSG00000033124
AA Change: C338Y
| 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 |
possibly damaging
Transcript: ENSMUST00000188347
AA Change: C338Y
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139731
Gene: ENSMUSG00000033124
AA Change: C338Y
| 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 |
possibly damaging
Transcript: ENSMUST00000189702
AA Change: C338Y
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139641
Gene: ENSMUSG00000033124
AA Change: C338Y
| 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: 98.3%
|
| Validation Efficiency |
100% (44/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
T |
A |
17: 48,347,580 (GRCm39) |
K241N |
possibly damaging |
Het |
| Adam5 |
A |
T |
8: 25,296,510 (GRCm39) |
S312R |
probably damaging |
Het |
| Cage1 |
T |
C |
13: 38,196,447 (GRCm39) |
E749G |
possibly damaging |
Het |
| Catspere2 |
C |
A |
1: 177,931,275 (GRCm39) |
T398K |
unknown |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Ccndbp1 |
T |
C |
2: 120,839,013 (GRCm39) |
V8A |
probably benign |
Het |
| Cenpt |
T |
C |
8: 106,575,418 (GRCm39) |
D228G |
probably benign |
Het |
| Cfap57 |
A |
G |
4: 118,463,731 (GRCm39) |
|
probably null |
Het |
| Cyp4a32 |
T |
A |
4: 115,468,422 (GRCm39) |
N301K |
probably benign |
Het |
| Epha6 |
T |
C |
16: 60,025,850 (GRCm39) |
T531A |
probably benign |
Het |
| Gmeb1 |
A |
T |
4: 131,962,156 (GRCm39) |
C168S |
probably damaging |
Het |
| H2-DMa |
G |
A |
17: 34,357,132 (GRCm39) |
R210H |
possibly damaging |
Het |
| Ighv1-7 |
T |
G |
12: 114,502,198 (GRCm39) |
T90P |
probably damaging |
Het |
| Kalrn |
A |
C |
16: 33,916,249 (GRCm39) |
M1R |
probably null |
Het |
| Kcnrg |
CACAACAA |
CACAA |
14: 61,845,009 (GRCm39) |
|
probably benign |
Het |
| Krtap14 |
T |
C |
16: 88,622,865 (GRCm39) |
D38G |
possibly damaging |
Het |
| Lrrc8e |
A |
G |
8: 4,283,964 (GRCm39) |
N63S |
probably benign |
Het |
| Map4k2 |
T |
A |
19: 6,392,814 (GRCm39) |
L152Q |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,023,048 (GRCm39) |
D78G |
possibly damaging |
Het |
| Ms4a6c |
T |
C |
19: 11,449,851 (GRCm39) |
V81A |
probably benign |
Het |
| Mtnr1b |
T |
C |
9: 15,785,660 (GRCm39) |
T33A |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,566,624 (GRCm39) |
Q1965L |
unknown |
Het |
| Nfatc2 |
A |
C |
2: 168,328,898 (GRCm39) |
|
probably benign |
Het |
| Nlrp9b |
C |
T |
7: 19,779,707 (GRCm39) |
T790I |
possibly damaging |
Het |
| Nol4 |
A |
T |
18: 22,902,899 (GRCm39) |
C371S |
probably damaging |
Het |
| Ntn1 |
A |
C |
11: 68,148,485 (GRCm39) |
|
probably benign |
Het |
| Or14j3 |
A |
G |
17: 37,900,633 (GRCm39) |
S204P |
possibly damaging |
Het |
| Orc1 |
T |
C |
4: 108,469,357 (GRCm39) |
V727A |
probably benign |
Het |
| Phf20l1 |
C |
T |
15: 66,484,888 (GRCm39) |
Q318* |
probably null |
Het |
| Psg18 |
A |
T |
7: 18,083,185 (GRCm39) |
Y323* |
probably null |
Het |
| Ptk2b |
T |
C |
14: 66,409,189 (GRCm39) |
Y529C |
probably damaging |
Het |
| Rrm1 |
A |
G |
7: 102,108,598 (GRCm39) |
Y374C |
probably damaging |
Het |
| Selp |
T |
A |
1: 163,964,765 (GRCm39) |
F476I |
probably damaging |
Het |
| Sema3b |
A |
G |
9: 107,478,957 (GRCm39) |
|
probably null |
Het |
| Setdb2 |
T |
G |
14: 59,639,849 (GRCm39) |
T665P |
probably damaging |
Het |
| Sorbs3 |
T |
C |
14: 70,424,387 (GRCm39) |
Y515C |
probably damaging |
Het |
| St13 |
G |
A |
15: 81,272,575 (GRCm39) |
P90S |
possibly damaging |
Het |
| Stag1 |
T |
A |
9: 100,836,306 (GRCm39) |
I1197N |
probably damaging |
Het |
| Svs3a |
A |
G |
2: 164,132,179 (GRCm39) |
Y250C |
probably damaging |
Het |
| Ticam1 |
T |
C |
17: 56,577,428 (GRCm39) |
I556V |
probably benign |
Het |
| Vmn1r180 |
A |
G |
7: 23,651,620 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,342,235 (GRCm39) |
L1492* |
probably null |
Het |
| Zfp438 |
A |
G |
18: 5,214,379 (GRCm39) |
V193A |
probably benign |
Het |
| Zfp729b |
A |
G |
13: 67,739,337 (GRCm39) |
V976A |
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 |
|
|
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 |
|
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'- GTGTTCCACAGCTAACACATC -3'
(R):5'- TCAAGGCCGAGTACAAACG -3'
Sequencing Primer
(F):5'- GCTAACACATCTTCATCATAGATGG -3'
(R):5'- GCCGAGTACAAACGTGGAG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation