Incidental Mutation 'IGL01571:Lypla1'
ID 93280
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lypla1
Ensembl Gene ENSMUSG00000025903
Gene Name lysophospholipase 1
Synonyms Pla1a
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01571
Quality Score
Status
Chromosome 1
Chromosomal Location 4807788-4848410 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4844988 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 222 (I222T)
Ref Sequence ENSEMBL: ENSMUSP00000027036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027036] [ENSMUST00000115529] [ENSMUST00000119612] [ENSMUST00000131119] [ENSMUST00000134384] [ENSMUST00000137887] [ENSMUST00000150971] [ENSMUST00000155020]
AlphaFold P97823
Predicted Effect probably benign
Transcript: ENSMUST00000027036
AA Change: I222T

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000027036
Gene: ENSMUSG00000025903
AA Change: I222T

DomainStartEndE-ValueType
Pfam:Abhydrolase_2 8 226 2.5e-92 PFAM
Pfam:Abhydrolase_5 23 209 4.3e-14 PFAM
Pfam:Abhydrolase_3 82 170 2.6e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115529
AA Change: I188T

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000111191
Gene: ENSMUSG00000025903
AA Change: I188T

DomainStartEndE-ValueType
Pfam:Abhydrolase_2 8 125 1.5e-49 PFAM
Pfam:Abhydrolase_2 122 192 2.2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119612
SMART Domains Protein: ENSMUSP00000137647
Gene: ENSMUSG00000025903

DomainStartEndE-ValueType
Pfam:Abhydrolase_2 8 92 1.1e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131119
SMART Domains Protein: ENSMUSP00000118453
Gene: ENSMUSG00000025903

DomainStartEndE-ValueType
Pfam:Abhydrolase_2 1 142 8.1e-56 PFAM
Pfam:Abhydrolase_5 10 141 7.8e-11 PFAM
Pfam:Abhydrolase_6 11 139 9.2e-8 PFAM
Pfam:Abhydrolase_3 20 139 4e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134384
SMART Domains Protein: ENSMUSP00000137104
Gene: ENSMUSG00000025903

DomainStartEndE-ValueType
Pfam:Abhydrolase_2 8 224 5.6e-85 PFAM
Pfam:Abhydrolase_5 23 209 4e-14 PFAM
Pfam:Abhydrolase_6 24 160 2.5e-10 PFAM
Pfam:Abhydrolase_3 85 195 2.4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137887
SMART Domains Protein: ENSMUSP00000119456
Gene: ENSMUSG00000025903

DomainStartEndE-ValueType
Pfam:Abhydrolase_2 8 142 5.6e-48 PFAM
Pfam:Abhydrolase_5 23 141 9.3e-10 PFAM
Pfam:Abhydrolase_6 24 141 7.2e-12 PFAM
Pfam:Abhydrolase_3 62 140 2.1e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141278
Predicted Effect probably benign
Transcript: ENSMUST00000150971
SMART Domains Protein: ENSMUSP00000137248
Gene: ENSMUSG00000025903

DomainStartEndE-ValueType
Pfam:Abhydrolase_2 8 215 1.3e-84 PFAM
Pfam:Abhydrolase_5 23 209 4.4e-14 PFAM
Pfam:Abhydrolase_6 24 160 3.6e-10 PFAM
Pfam:Abhydrolase_3 85 195 1.1e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155020
SMART Domains Protein: ENSMUSP00000136108
Gene: ENSMUSG00000104217

DomainStartEndE-ValueType
low complexity region 8 24 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the alpha/beta hydrolase superfamily. The encoded protein functions as a homodimer, exhibiting both depalmitoylating as well as lysophospholipase activity, and may be involved in Ras localization and signaling. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 4, 6, and 7. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 T A 9: 21,539,081 probably benign Het
Cep164 T C 9: 45,794,338 Q127R possibly damaging Het
Ces1f T A 8: 93,258,368 M444L probably benign Het
Chd5 T A 4: 152,384,115 probably benign Het
Cpd T A 11: 76,782,296 Y1341F probably damaging Het
Cryz T C 3: 154,621,743 I268T probably damaging Het
Csnk2a1 G A 2: 152,275,406 R278H probably damaging Het
Cyp4a12b A G 4: 115,438,157 I487V probably benign Het
Dnajb5 T C 4: 42,956,516 probably benign Het
Dxo A T 17: 34,839,040 H214L probably damaging Het
Etfb T C 7: 43,452,959 probably null Het
G6pc2 G A 2: 69,222,967 V122I probably damaging Het
Gm5431 A T 11: 48,894,713 D278E probably benign Het
Gstt2 C T 10: 75,834,171 probably benign Het
Hnf4g A C 3: 3,651,266 probably benign Het
Ifi44 T C 3: 151,745,537 D259G probably damaging Het
Klk1 T C 7: 44,228,596 V92A probably damaging Het
Nbeal2 T C 9: 110,632,758 N1510D possibly damaging Het
Ndufaf7 A G 17: 78,943,852 R229G probably damaging Het
Nphp4 G A 4: 152,556,382 V1069M probably benign Het
Nsd2 A G 5: 33,864,687 H528R probably benign Het
Olfr1298 C A 2: 111,645,380 V206L probably benign Het
Olfr1355 A G 10: 78,879,837 I222V possibly damaging Het
Olfr763 A T 10: 129,011,827 I181F probably damaging Het
Pigh A C 12: 79,085,860 probably benign Het
Prr14l A T 5: 32,828,806 M1115K probably benign Het
Psg21 T C 7: 18,654,825 D114G probably damaging Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Pygb T C 2: 150,830,473 S831P probably benign Het
Ryr2 T A 13: 11,721,761 D2260V probably damaging Het
Sgo2a T C 1: 58,017,974 S1106P probably damaging Het
Slc5a5 G A 8: 70,891,332 probably benign Het
Tekt4 A G 17: 25,476,384 D397G probably benign Het
Trrap T A 5: 144,833,287 probably benign Het
Upf2 T C 2: 6,018,939 probably benign Het
Usp17lb A T 7: 104,840,381 N445K possibly damaging Het
Vmn2r111 A G 17: 22,571,392 V211A probably damaging Het
Vmn2r23 A G 6: 123,704,407 I91M probably damaging Het
Vps13b C T 15: 35,877,489 probably benign Het
Zc3hc1 G A 6: 30,390,863 T47I probably benign Het
Other mutations in Lypla1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Lypla1 APN 1 4828587 missense probably damaging 1.00
IGL01592:Lypla1 APN 1 4828651 critical splice donor site probably null
IGL01865:Lypla1 APN 1 4837036 missense probably damaging 0.96
IGL02442:Lypla1 APN 1 4832387 splice site probably benign
IGL03005:Lypla1 APN 1 4832390 splice site probably benign
R0095:Lypla1 UTSW 1 4830327 splice site probably benign
R2278:Lypla1 UTSW 1 4841098 splice site probably null
R3766:Lypla1 UTSW 1 4840978 missense probably benign 0.04
R5805:Lypla1 UTSW 1 4830294 missense possibly damaging 0.54
R6014:Lypla1 UTSW 1 4808371 splice site probably null
R6027:Lypla1 UTSW 1 4837076 critical splice donor site probably null
R6842:Lypla1 UTSW 1 4832340 missense probably benign 0.14
R7285:Lypla1 UTSW 1 4841098 missense probably benign
R7564:Lypla1 UTSW 1 4808367 critical splice donor site probably null
R9105:Lypla1 UTSW 1 4841059 missense probably damaging 1.00
Posted On 2013-12-09