Incidental Mutation 'IGL02135:Atl2'
ID281308
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atl2
Ensembl Gene ENSMUSG00000059811
Gene Nameatlastin GTPase 2
Synonyms2010110I21Rik, Aip-2, Arl6ip2
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.887) question?
Stock #IGL02135
Quality Score
Status
Chromosome17
Chromosomal Location79848390-79896123 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 79859785 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068282] [ENSMUST00000112437] [ENSMUST00000222193]
Predicted Effect probably null
Transcript: ENSMUST00000068282
SMART Domains Protein: ENSMUSP00000064758
Gene: ENSMUSG00000059811

DomainStartEndE-ValueType
low complexity region 9 22 N/A INTRINSIC
Pfam:GBP 70 341 3.9e-105 PFAM
low complexity region 377 390 N/A INTRINSIC
Blast:HAMP 495 545 4e-8 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000112437
SMART Domains Protein: ENSMUSP00000108056
Gene: ENSMUSG00000059811

DomainStartEndE-ValueType
Pfam:GBP 1 170 6.6e-69 PFAM
Pfam:GBP_C 172 302 2.7e-8 PFAM
Blast:HAMP 324 374 3e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000222193
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223273
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik T C 14: 49,773,929 K107R probably damaging Het
4930407I10Rik A G 15: 82,065,004 H1034R possibly damaging Het
App A G 16: 85,079,838 probably null Het
Arhgap23 G T 11: 97,451,702 R270L probably damaging Het
Arhgap36 T C X: 49,497,189 I342T possibly damaging Het
Arhgef12 A T 9: 42,972,165 M1356K possibly damaging Het
Asap3 A C 4: 136,241,153 probably null Het
Cdh7 T A 1: 110,138,274 Y759* probably null Het
Celsr3 A G 9: 108,827,556 T413A probably benign Het
Cep97 A T 16: 55,922,967 I102K probably damaging Het
Ces2a T C 8: 104,740,181 S441P probably benign Het
Cops2 T C 2: 125,832,243 T435A probably benign Het
Ctc1 A G 11: 69,021,163 N56S probably benign Het
Dennd2a G A 6: 39,480,271 R746* probably null Het
Dnah5 T A 15: 28,247,885 C723S possibly damaging Het
Dnah7a A C 1: 53,623,473 V643G probably benign Het
Dnah9 A T 11: 66,117,492 S836T possibly damaging Het
Doxl2 G A 6: 48,975,564 R141Q probably benign Het
Edc4 T A 8: 105,885,822 V164D probably damaging Het
Gcfc2 A T 6: 81,941,400 D357V probably damaging Het
Grem1 T C 2: 113,749,787 N123S probably damaging Het
Gria1 T C 11: 57,185,853 V94A probably damaging Het
Hipk2 G A 6: 38,818,999 H112Y possibly damaging Het
Il7r T C 15: 9,508,006 N410S probably benign Het
Insr A T 8: 3,258,741 S98R probably damaging Het
Klhl7 T A 5: 24,141,281 Y308* probably null Het
Lcp1 T C 14: 75,200,486 V112A probably benign Het
Map2 A T 1: 66,380,761 R84* probably null Het
Mgst1 A T 6: 138,147,768 M27L probably damaging Het
Mroh7 A G 4: 106,702,510 L740P probably damaging Het
Mybpc3 T C 2: 91,124,826 F507L possibly damaging Het
Nqo2 A T 13: 33,985,343 K183* probably null Het
Nt5c1b T C 12: 10,377,194 Y315H probably damaging Het
Odc1 T A 12: 17,547,673 I48N probably damaging Het
Olfr1353 T A 10: 78,970,106 S152R probably damaging Het
Olfr444 A G 6: 42,955,651 D51G probably damaging Het
Osbpl5 T A 7: 143,705,125 D236V probably damaging Het
Prkg1 A G 19: 30,993,076 Y212H probably benign Het
Pttg1ip T C 10: 77,589,744 probably null Het
Serpina1f T A 12: 103,693,715 T103S possibly damaging Het
Skp2 T C 15: 9,125,147 D115G probably benign Het
Slc25a30 C T 14: 75,766,995 V221I probably benign Het
Slc7a3 A C X: 101,079,492 D609E probably benign Het
Strc C T 2: 121,364,834 G1656D probably damaging Het
Tbc1d8 A G 1: 39,402,810 F234L probably damaging Het
Tgm7 T G 2: 121,099,038 I252L possibly damaging Het
Tlr5 A G 1: 182,973,254 D41G possibly damaging Het
Tns2 T C 15: 102,113,026 L1034P probably damaging Het
Trim15 A G 17: 36,867,064 V13A probably benign Het
Uros C T 7: 133,687,005 V258M possibly damaging Het
Wdr75 G A 1: 45,817,448 probably null Het
Wdr75 A G 1: 45,814,563 Y378C probably damaging Het
Wdr82 G T 9: 106,171,244 R9L possibly damaging Het
Ybx3 G A 6: 131,380,929 R125C probably damaging Het
Zc3h12b A G X: 95,899,264 T49A probably benign Het
Zfyve27 G A 19: 42,184,136 V279M probably damaging Het
Other mutations in Atl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02692:Atl2 APN 17 79865053 missense probably benign
IGL03127:Atl2 APN 17 79852854 missense probably damaging 0.99
IGL03377:Atl2 APN 17 79865090 missense probably damaging 1.00
R0164:Atl2 UTSW 17 79853831 unclassified probably benign
R1203:Atl2 UTSW 17 79852905 missense probably damaging 0.99
R1489:Atl2 UTSW 17 79852706 missense probably benign 0.00
R1663:Atl2 UTSW 17 79864711 missense probably damaging 1.00
R1977:Atl2 UTSW 17 79852590 missense probably damaging 1.00
R2032:Atl2 UTSW 17 79895944 missense probably benign
R4063:Atl2 UTSW 17 79850159 makesense probably null
R5104:Atl2 UTSW 17 79852617 missense probably benign 0.01
R5201:Atl2 UTSW 17 79865151 missense probably benign
R5362:Atl2 UTSW 17 79861461 missense probably damaging 1.00
R5387:Atl2 UTSW 17 79852800 missense probably benign 0.03
R6128:Atl2 UTSW 17 79865041 critical splice donor site probably null
R6369:Atl2 UTSW 17 79854555 missense probably damaging 0.96
R6416:Atl2 UTSW 17 79850223 missense probably benign 0.00
R6597:Atl2 UTSW 17 79852766 missense possibly damaging 0.68
R6883:Atl2 UTSW 17 79852553 missense probably damaging 1.00
X0052:Atl2 UTSW 17 79852617 missense possibly damaging 0.94
Posted On2015-04-16