Incidental Mutation 'IGL00832:Luc7l3'
ID11876
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Luc7l3
Ensembl Gene ENSMUSG00000020863
Gene NameLUC7-like 3 (S. cerevisiae)
Synonyms3300001P08Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.966) question?
Stock #IGL00832
Quality Score
Status
Chromosome11
Chromosomal Location94287890-94321988 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 94303942 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 84 (D84G)
Ref Sequence ENSEMBL: ENSMUSP00000129919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021226] [ENSMUST00000107820] [ENSMUST00000107821] [ENSMUST00000107822] [ENSMUST00000166312]
Predicted Effect probably benign
Transcript: ENSMUST00000021226
AA Change: D84G

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000021226
Gene: ENSMUSG00000020863
AA Change: D84G

DomainStartEndE-ValueType
Pfam:LUC7 3 293 2.3e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107820
AA Change: D84G

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103450
Gene: ENSMUSG00000020863
AA Change: D84G

DomainStartEndE-ValueType
Pfam:LUC7 1 302 4.2e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107821
AA Change: D84G

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103451
Gene: ENSMUSG00000020863
AA Change: D84G

DomainStartEndE-ValueType
Pfam:LUC7 1 302 4.2e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165620
Predicted Effect probably benign
Transcript: ENSMUST00000166312
AA Change: D84G

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000129919
Gene: ENSMUSG00000020863
AA Change: D84G

DomainStartEndE-ValueType
Pfam:LUC7 1 300 7.9e-72 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 with an N-terminal half that contains cysteine/histidine motifs and leucine zipper-like repeats, and the C-terminal half is rich in arginine and glutamate residues (RE domain) and arginine and serine residues (RS domain). This protein localizes with a speckled pattern in the nucleus, and could be involved in the formation of splicesome via the RE and RS domains. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2009]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A G 8: 72,455,349 Y407C probably damaging Het
Amtn T G 5: 88,385,049 H174Q possibly damaging Het
Cdon T A 9: 35,478,116 I839N probably damaging Het
Ces2g A G 8: 104,967,839 probably benign Het
Colq G T 14: 31,528,346 C367* probably null Het
Dopey2 T C 16: 93,763,401 V745A probably benign Het
E2f8 C T 7: 48,868,203 G657D probably damaging Het
Gpcpd1 G A 2: 132,546,850 T334M probably damaging Het
Gria2 T C 3: 80,707,251 D494G probably damaging Het
Gtf3c1 T C 7: 125,654,460 probably benign Het
Gtf3c2 G A 5: 31,173,005 probably benign Het
Hnf4g G A 3: 3,641,276 C77Y probably damaging Het
Ido1 G A 8: 24,584,559 T265I possibly damaging Het
Ifih1 A G 2: 62,645,470 probably benign Het
Itga6 A G 2: 71,838,262 probably null Het
Kctd10 C A 5: 114,368,936 probably null Het
Ltk A T 2: 119,755,605 probably benign Het
Mb21d1 A T 9: 78,434,317 C393S probably damaging Het
Mc3r A T 2: 172,249,028 I57F possibly damaging Het
Mmp1b T A 9: 7,387,023 Q63L possibly damaging Het
Ncr1 C A 7: 4,341,288 T225N possibly damaging Het
Nf2 T C 11: 4,791,123 K364E probably benign Het
Ppl A T 16: 5,088,975 L1152H probably damaging Het
Primpol A G 8: 46,581,597 V432A probably damaging Het
Rbl2 A G 8: 91,085,445 D214G probably damaging Het
Rxfp2 A T 5: 150,066,428 M425L probably benign Het
Slc5a3 T C 16: 92,077,631 M192T probably damaging Het
Tbx18 T A 9: 87,705,661 S468C probably damaging Het
Tex10 T C 4: 48,468,864 T104A probably benign Het
Unc13b T G 4: 43,258,921 V4153G probably damaging Het
Vmn1r188 A G 13: 22,088,181 T102A probably damaging Het
Other mutations in Luc7l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02138:Luc7l3 APN 11 94303966 missense probably benign 0.00
IGL02318:Luc7l3 APN 11 94292993 missense probably benign 0.05
IGL02479:Luc7l3 APN 11 94296909 unclassified probably benign
IGL02563:Luc7l3 APN 11 94300068 splice site probably null
veritas UTSW 11 94292953 missense probably damaging 0.98
R0096:Luc7l3 UTSW 11 94301494 splice site probably benign
R0096:Luc7l3 UTSW 11 94301494 splice site probably benign
R1706:Luc7l3 UTSW 11 94297756 splice site probably benign
R3803:Luc7l3 UTSW 11 94293166 utr 3 prime probably benign
R4260:Luc7l3 UTSW 11 94296050 unclassified probably benign
R4647:Luc7l3 UTSW 11 94309641 missense probably damaging 1.00
R5153:Luc7l3 UTSW 11 94295980 unclassified probably benign
R5179:Luc7l3 UTSW 11 94300053 missense possibly damaging 0.92
R5591:Luc7l3 UTSW 11 94293234 unclassified probably benign
R6767:Luc7l3 UTSW 11 94292953 missense probably damaging 0.98
R6912:Luc7l3 UTSW 11 94309636 missense probably damaging 0.97
R7168:Luc7l3 UTSW 11 94299984 missense unknown
R7541:Luc7l3 UTSW 11 94295965 missense unknown
Z1177:Luc7l3 UTSW 11 94321775 frame shift probably null
Posted On2012-12-06