Incidental Mutation 'IGL01612:Atg2a'
ID92175
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: 0.467) question?
Stock #IGL01612
Quality Score
Status
Chromosome19
Chromosomal Location6241668-6262335 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 6252484 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 946 (Q946K)
Ref Sequence ENSEMBL: ENSMUSP00000046412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045351]
Predicted Effect probably benign
Transcript: ENSMUST00000045351
AA Change: Q946K

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000046412
Gene: ENSMUSG00000024773
AA Change: Q946K

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: ENSMUST00000135018
Predicted Effect unknown
Transcript: ENSMUST00000145600
AA Change: Q747K
SMART Domains Protein: ENSMUSP00000114998
Gene: ENSMUSG00000024773
AA Change: Q747K

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,660,031 T1326A possibly damaging Het
Afg3l1 C T 8: 123,494,853 R484C probably benign Het
Cdh20 T C 1: 104,994,170 Y731H probably benign Het
Cdk15 A G 1: 59,289,773 D282G possibly damaging Het
Ctnnd2 T C 15: 31,005,018 S1073P probably damaging Het
Dnah2 T C 11: 69,465,063 probably benign Het
Evi2a T A 11: 79,527,152 R211W probably damaging Het
Fmo1 T A 1: 162,833,599 I372F probably benign Het
Glyctk T C 9: 106,155,272 D514G probably damaging Het
Gmnc G A 16: 26,960,319 Q313* probably null Het
Grik1 T C 16: 87,946,735 T520A probably damaging Het
Gtsf2 A T 15: 103,444,913 C9S probably damaging Het
Ift80 T G 3: 68,963,663 N200T possibly damaging Het
Ints1 A G 5: 139,756,292 S1771P probably benign Het
Lrba A G 3: 86,776,177 T2769A possibly damaging Het
Lrfn2 G T 17: 49,070,397 V169L possibly damaging Het
Mei1 G A 15: 82,089,552 R80H probably damaging Het
Nbeal2 A T 9: 110,644,678 V31E probably damaging Het
Ncapd2 G T 6: 125,177,872 P546T probably benign Het
Olfr685 A G 7: 105,180,722 V212A probably damaging Het
Pan3 T C 5: 147,453,242 probably benign Het
Rab3b T A 4: 108,924,026 probably null Het
Rabl2 T C 15: 89,583,412 K119E probably benign Het
Reln A G 5: 21,896,930 V3334A probably damaging Het
Rfx1 A G 8: 84,092,972 probably null Het
Rhod T C 19: 4,426,219 Y168C probably damaging Het
Sag T C 1: 87,805,349 I13T probably damaging Het
Sat2 T C 11: 69,622,963 probably null Het
Scn5a A T 9: 119,486,025 D1872E possibly damaging Het
Sh2b2 T G 5: 136,231,802 I187L probably benign Het
Slit3 G A 11: 35,700,384 G1341D possibly damaging Het
Tmed11 A T 5: 108,779,884 S95T possibly damaging Het
Tmem186 A G 16: 8,635,869 V176A possibly damaging Het
Trim12c A T 7: 104,348,215 S45T possibly damaging Het
Ube4b C A 4: 149,383,818 R167L probably damaging Het
Zfp335 A T 2: 164,910,620 probably null Het
Other mutations in Atg2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Atg2a APN 19 6254599 missense probably damaging 1.00
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
IGL03349:Atg2a APN 19 6258024 missense possibly damaging 0.77
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 synonymous 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
X0065:Atg2a UTSW 19 6258196 missense possibly damaging 0.89
Posted On2013-12-09