Incidental Mutation 'IGL03349:Atg2a'
ID419630
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atg2a
Ensembl Gene ENSMUSG00000024773
Gene Nameautophagy related 2A
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.320) question?
Stock #IGL03349
Quality Score
Status
Chromosome19
Chromosomal Location6241668-6262335 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 6258024 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 1590 (V1590D)
Ref Sequence ENSEMBL: ENSMUSP00000046412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045351]
Predicted Effect possibly damaging
Transcript: ENSMUST00000045351
AA Change: V1590D

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000046412
Gene: ENSMUSG00000024773
AA Change: V1590D

DomainStartEndE-ValueType
Pfam:Chorein_N 14 131 7.6e-20 PFAM
low complexity region 138 154 N/A INTRINSIC
low complexity region 285 301 N/A INTRINSIC
low complexity region 501 512 N/A INTRINSIC
low complexity region 852 863 N/A INTRINSIC
low complexity region 1069 1081 N/A INTRINSIC
low complexity region 1429 1446 N/A INTRINSIC
low complexity region 1761 1773 N/A INTRINSIC
Pfam:ATG_C 1814 1908 2.2e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143053
Predicted Effect unknown
Transcript: ENSMUST00000145600
AA Change: V1393D
SMART Domains Protein: ENSMUSP00000114998
Gene: ENSMUSG00000024773
AA Change: V1393D

DomainStartEndE-ValueType
low complexity region 87 103 N/A INTRINSIC
low complexity region 303 314 N/A INTRINSIC
low complexity region 654 665 N/A INTRINSIC
low complexity region 871 883 N/A INTRINSIC
low complexity region 1233 1250 N/A INTRINSIC
low complexity region 1565 1577 N/A INTRINSIC
Pfam:ATG_C 1618 1712 3.6e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151079
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,481,336 Y3648H probably benign Het
Akr1c20 T A 13: 4,508,250 R172* probably null Het
Apba1 A T 19: 23,917,575 E458D probably benign Het
Atp13a4 A G 16: 29,456,671 S332P probably benign Het
Atp8b2 A T 3: 89,957,817 F163I probably damaging Het
Azin2 A T 4: 128,946,114 Y228* probably null Het
Cd109 C T 9: 78,636,485 H104Y probably benign Het
Ces2a G T 8: 104,734,080 L3F probably damaging Het
Crebbp A G 16: 4,117,358 V889A possibly damaging Het
Crim1 A T 17: 78,355,150 K801* probably null Het
Cxcr1 T C 1: 74,192,528 T112A possibly damaging Het
Cyp1a2 A G 9: 57,679,875 S378P possibly damaging Het
Cyp2c67 T C 19: 39,643,684 Y80C probably damaging Het
Dennd4a T C 9: 64,888,974 W761R probably damaging Het
Dgki C T 6: 37,097,627 probably null Het
Dnase1l3 T C 14: 7,984,146 T89A probably benign Het
Dock4 C A 12: 40,733,310 Q748K probably benign Het
Elmo3 A G 8: 105,306,388 E68G possibly damaging Het
Fer1l4 C A 2: 156,044,734 E692* probably null Het
Fkbp9 T A 6: 56,849,718 M101K probably damaging Het
Gm4763 T A 7: 24,722,836 S163C probably damaging Het
Grin1 C A 2: 25,310,436 V225L probably benign Het
Gucy2d T C 7: 98,449,841 V288A possibly damaging Het
Heatr5b C A 17: 78,755,320 K1933N probably benign Het
Hsdl1 A T 8: 119,565,697 S260T probably benign Het
Hspg2 T C 4: 137,560,522 probably benign Het
Ift172 A T 5: 31,284,130 V220E probably benign Het
Igkv12-47 C T 6: 69,750,866 noncoding transcript Het
Ism1 C T 2: 139,731,975 R82* probably null Het
Lrch3 A G 16: 32,955,324 T187A probably damaging Het
Ltbr T A 6: 125,312,366 D160V probably damaging Het
Mark3 A T 12: 111,628,250 K353I probably benign Het
Mrm3 A T 11: 76,249,946 H260L probably damaging Het
Nckap1 T C 2: 80,525,560 Q627R probably benign Het
Neb T A 2: 52,278,952 Y1857F possibly damaging Het
Ntsr1 A G 2: 180,500,502 T29A probably benign Het
Ofcc1 C T 13: 40,072,752 G768D probably benign Het
Olfr181 T C 16: 58,925,960 M204V probably benign Het
Pde8b T C 13: 95,043,043 probably benign Het
Pld4 A T 12: 112,767,879 Q393L probably benign Het
Prss23 T C 7: 89,509,857 I335V probably benign Het
Prune2 A G 19: 17,123,346 I2071M probably damaging Het
Ptprz1 T A 6: 23,000,332 V807E probably damaging Het
Rnf20 G A 4: 49,655,936 A961T probably damaging Het
Slc25a24 A G 3: 109,149,549 Q126R possibly damaging Het
Slc35e1 A T 8: 72,483,852 Y382N probably damaging Het
Snrpn C T 7: 59,985,865 G129D probably damaging Het
Spag9 A T 11: 94,093,509 N386I possibly damaging Het
Ssna1 T C 2: 25,271,530 N102D possibly damaging Het
Tcrg-C2 T A 13: 19,305,176 T129S probably benign Het
Tex21 A T 12: 76,221,591 I139N probably benign Het
Trim21 T C 7: 102,563,277 T161A probably benign Het
Vmn2r82 T A 10: 79,377,869 H96Q probably benign Het
Other mutations in Atg2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Atg2a APN 19 6254599 missense probably damaging 1.00
IGL01612:Atg2a APN 19 6252484 missense probably benign 0.03
IGL02105:Atg2a APN 19 6250403 splice site probably benign
IGL02151:Atg2a APN 19 6255757 missense possibly damaging 0.95
IGL02228:Atg2a APN 19 6246800 missense probably benign 0.29
IGL02329:Atg2a APN 19 6249929 critical splice donor site probably null
IGL02408:Atg2a APN 19 6241828 nonsense probably null
IGL02538:Atg2a APN 19 6257628 missense probably benign
IGL02830:Atg2a APN 19 6247681 missense probably benign 0.04
PIT4515001:Atg2a UTSW 19 6253585 missense probably damaging 1.00
R0099:Atg2a UTSW 19 6252789 missense probably damaging 0.97
R0212:Atg2a UTSW 19 6246554 missense probably damaging 1.00
R0365:Atg2a UTSW 19 6247683 missense possibly damaging 0.51
R0398:Atg2a UTSW 19 6246578 missense probably damaging 1.00
R0483:Atg2a UTSW 19 6256601 missense probably damaging 0.98
R0483:Atg2a UTSW 19 6256602 missense probably benign 0.01
R0494:Atg2a UTSW 19 6253377 missense probably damaging 1.00
R0511:Atg2a UTSW 19 6252539 missense possibly damaging 0.89
R0590:Atg2a UTSW 19 6245007 unclassified probably benign
R0592:Atg2a UTSW 19 6245007 unclassified probably benign
R0593:Atg2a UTSW 19 6245007 unclassified probably benign
R0630:Atg2a UTSW 19 6244517 missense probably damaging 0.99
R1306:Atg2a UTSW 19 6253021 missense probably benign 0.31
R1437:Atg2a UTSW 19 6250616 missense probably damaging 1.00
R1539:Atg2a UTSW 19 6246771 splice site probably null
R1774:Atg2a UTSW 19 6250598 missense probably benign 0.01
R1781:Atg2a UTSW 19 6256213 missense probably damaging 0.96
R1854:Atg2a UTSW 19 6252431 missense probably benign 0.11
R1884:Atg2a UTSW 19 6254384 missense probably damaging 1.00
R1899:Atg2a UTSW 19 6245067 missense probably damaging 1.00
R1935:Atg2a UTSW 19 6252536 missense probably damaging 1.00
R2020:Atg2a UTSW 19 6250269 critical splice donor site probably null
R2071:Atg2a UTSW 19 6257458 missense probably benign 0.00
R2513:Atg2a UTSW 19 6258046 critical splice donor site probably null
R3808:Atg2a UTSW 19 6252816 missense possibly damaging 0.71
R4065:Atg2a UTSW 19 6258366 missense probably damaging 1.00
R4109:Atg2a UTSW 19 6258374 missense possibly damaging 0.95
R4352:Atg2a UTSW 19 6257457 missense probably benign 0.04
R4440:Atg2a UTSW 19 6255829 critical splice donor site probably null
R4472:Atg2a UTSW 19 6258955 missense probably damaging 0.98
R4669:Atg2a UTSW 19 6258987 critical splice donor site probably null
R4878:Atg2a UTSW 19 6250244 missense probably damaging 1.00
R4926:Atg2a UTSW 19 6257533 missense probably damaging 0.96
R5237:Atg2a UTSW 19 6246814 missense probably benign
R5350:Atg2a UTSW 19 6251338 missense probably damaging 0.99
R5507:Atg2a UTSW 19 6245070 missense possibly damaging 0.94
R5732:Atg2a UTSW 19 6257460 missense probably damaging 1.00
R5784:Atg2a UTSW 19 6261505 missense probably damaging 1.00
R5960:Atg2a UTSW 19 6254360 missense probably damaging 1.00
R5985:Atg2a UTSW 19 6254637 missense probably damaging 1.00
R6175:Atg2a UTSW 19 6241729 unclassified probably benign
R6572:Atg2a UTSW 19 6254665 missense probably damaging 0.98
R6878:Atg2a UTSW 19 6250178 missense probably damaging 0.99
R6879:Atg2a UTSW 19 6251852 missense possibly damaging 0.70
R6983:Atg2a UTSW 19 6260040 missense probably damaging 0.99
R7024:Atg2a UTSW 19 6250219 missense possibly damaging 0.88
R7217:Atg2a UTSW 19 6253441 critical splice donor site probably null
R7384:Atg2a UTSW 19 6261677 missense probably damaging 1.00
R7387:Atg2a UTSW 19 6255168 missense possibly damaging 0.79
R7425:Atg2a UTSW 19 6255652 missense probably benign 0.02
R7512:Atg2a UTSW 19 6260076 missense probably damaging 1.00
R7658:Atg2a UTSW 19 6251263 missense probably damaging 1.00
R7893:Atg2a UTSW 19 6251296 missense probably damaging 1.00
R8062:Atg2a UTSW 19 6252579 critical splice donor site probably null
R8258:Atg2a UTSW 19 6249829 missense probably damaging 0.98
R8259:Atg2a UTSW 19 6249829 missense probably damaging 0.98
R8350:Atg2a UTSW 19 6246811 missense probably benign 0.03
R8412:Atg2a UTSW 19 6244524 missense probably damaging 1.00
R8450:Atg2a UTSW 19 6246811 missense probably benign 0.03
R8474:Atg2a UTSW 19 6251403 critical splice donor site probably null
R8501:Atg2a UTSW 19 6254390 missense probably damaging 1.00
R8738:Atg2a UTSW 19 6256644 missense probably benign 0.00
R8786:Atg2a UTSW 19 6244430 missense probably damaging 1.00
R8810:Atg2a UTSW 19 6250621 missense probably benign 0.01
X0065:Atg2a UTSW 19 6258196 missense possibly damaging 0.89
Posted On2016-08-02