Incidental Mutation 'IGL00785:Luc7l2'
ID11874
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Luc7l2
Ensembl Gene ENSMUSG00000029823
Gene NameLUC7-like 2 (S. cerevisiae)
Synonyms4930471C18Rik, CGI-59, CGI-74
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.243) question?
Stock #IGL00785
Quality Score
Status
Chromosome6
Chromosomal Location38551334-38609470 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 38598786 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 261 (S261P)
Ref Sequence ENSEMBL: ENSMUSP00000055254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057692] [ENSMUST00000160511] [ENSMUST00000161227] [ENSMUST00000161538] [ENSMUST00000162386] [ENSMUST00000163047]
Predicted Effect possibly damaging
Transcript: ENSMUST00000057692
AA Change: S261P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000055254
Gene: ENSMUSG00000029823
AA Change: S261P

DomainStartEndE-ValueType
Pfam:LUC7 5 257 6.5e-84 PFAM
low complexity region 269 341 N/A INTRINSIC
low complexity region 347 370 N/A INTRINSIC
low complexity region 377 388 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160430
SMART Domains Protein: ENSMUSP00000124686
Gene: ENSMUSG00000029823

DomainStartEndE-ValueType
Pfam:LUC7 1 211 9.9e-70 PFAM
low complexity region 217 281 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160511
Predicted Effect unknown
Transcript: ENSMUST00000161227
AA Change: S208P
SMART Domains Protein: ENSMUSP00000125111
Gene: ENSMUSG00000029823
AA Change: S208P

DomainStartEndE-ValueType
Pfam:LUC7 1 288 6.9e-65 PFAM
low complexity region 294 317 N/A INTRINSIC
low complexity region 324 335 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161538
SMART Domains Protein: ENSMUSP00000124010
Gene: ENSMUSG00000029823

DomainStartEndE-ValueType
Pfam:LUC7 4 309 3.3e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162386
Predicted Effect probably benign
Transcript: ENSMUST00000163047
SMART Domains Protein: ENSMUSP00000125394
Gene: ENSMUSG00000029823

DomainStartEndE-ValueType
Pfam:LUC7 1 257 3.2e-66 PFAM
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 protein that contains a C2H2-type zinc finger, coiled-coil region and arginine, serine-rich (RS) domain. A similar protein in mouse interacts with sodium channel modifier 1, and the encoded protein may be involved in the recognition of non-consensus splice donor sites in association with the U1 snRNP spliceosomal subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cpt1a T A 19: 3,366,389 N313K possibly damaging Het
Crb2 G A 2: 37,792,064 C819Y probably damaging Het
Ctnna3 T G 10: 63,566,833 F108V probably damaging Het
Faim G A 9: 98,992,165 G15R probably damaging Het
Fam120a A G 13: 48,889,133 S931P probably benign Het
Ganc A C 2: 120,441,598 Y579S probably damaging Het
Hsd17b12 A G 2: 94,045,414 S189P probably damaging Het
Kif11 C A 19: 37,404,297 L559I probably benign Het
Kif11 T C 19: 37,404,298 L559P probably damaging Het
Myo7a T C 7: 98,054,348 K2035E probably damaging Het
Nbea A G 3: 55,955,393 S1813P probably benign Het
Osbpl8 A G 10: 111,273,044 T396A probably benign Het
Ppfibp2 A G 7: 107,737,887 T560A probably benign Het
Rictor A C 15: 6,776,950 Q683P probably damaging Het
Ryr3 A T 2: 112,836,103 H1519Q possibly damaging Het
Slc34a2 A T 5: 53,065,608 I347F probably benign Het
Sned1 C A 1: 93,274,169 probably benign Het
Ssfa2 A G 2: 79,657,268 E565G possibly damaging Het
St7l A G 3: 104,873,579 probably benign Het
Trmu T A 15: 85,882,831 D80E probably benign Het
Trpv4 A G 5: 114,628,625 V620A probably damaging Het
Ubr2 G A 17: 46,944,865 T1370I possibly damaging Het
Xpo5 T C 17: 46,204,692 V48A probably damaging Het
Zfp638 T C 6: 83,929,164 W104R probably damaging Het
Other mutations in Luc7l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Luc7l2 APN 6 38608170 unclassified probably benign
IGL00684:Luc7l2 APN 6 38608176 unclassified probably benign
R0004:Luc7l2 UTSW 6 38589234 missense probably damaging 1.00
R0304:Luc7l2 UTSW 6 38592776 missense probably damaging 0.98
R1820:Luc7l2 UTSW 6 38598819 splice site probably null
R2223:Luc7l2 UTSW 6 38565724 intron probably benign
R3815:Luc7l2 UTSW 6 38570591 missense possibly damaging 0.83
R5016:Luc7l2 UTSW 6 38585101 missense possibly damaging 0.54
R7583:Luc7l2 UTSW 6 38551885 missense probably damaging 0.98
R7655:Luc7l2 UTSW 6 38603464 missense unknown
R7656:Luc7l2 UTSW 6 38603464 missense unknown
R7722:Luc7l2 UTSW 6 38603308 missense unknown
R7761:Luc7l2 UTSW 6 38555064 critical splice donor site probably null
Z1088:Luc7l2 UTSW 6 38603369 utr 3 prime probably benign
Z1176:Luc7l2 UTSW 6 38551908 nonsense probably null
Posted On2012-12-06