Incidental Mutation 'IGL02318:Luc7l3'
ID 288118
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Luc7l3
Ensembl Gene ENSMUSG00000020863
Gene Name LUC7-like 3 (S. cerevisiae)
Synonyms 3300001P08Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # IGL02318
Quality Score
Status
Chromosome 11
Chromosomal Location 94181899-94213196 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 94183819 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 440 (R440Q)
Ref Sequence ENSEMBL: ENSMUSP00000021226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021226] [ENSMUST00000107820] [ENSMUST00000107821] [ENSMUST00000107822] [ENSMUST00000166312]
AlphaFold Q5SUF2
Predicted Effect probably benign
Transcript: ENSMUST00000021226
AA Change: R440Q

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000021226
Gene: ENSMUSG00000020863
AA Change: R440Q

DomainStartEndE-ValueType
Pfam:LUC7 3 293 2.3e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107820
SMART Domains Protein: ENSMUSP00000103450
Gene: ENSMUSG00000020863

DomainStartEndE-ValueType
Pfam:LUC7 1 302 4.2e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107821
SMART Domains Protein: ENSMUSP00000103451
Gene: ENSMUSG00000020863

DomainStartEndE-ValueType
Pfam:LUC7 1 302 4.2e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107822
Predicted Effect unknown
Transcript: ENSMUST00000132623
AA Change: R175Q
SMART Domains Protein: ENSMUSP00000131166
Gene: ENSMUSG00000020863
AA Change: R175Q

DomainStartEndE-ValueType
coiled coil region 1 31 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135311
Predicted Effect unknown
Transcript: ENSMUST00000138369
AA Change: R42Q
Predicted Effect unknown
Transcript: ENSMUST00000166312
AA Change: R440Q
SMART Domains Protein: ENSMUSP00000129919
Gene: ENSMUSG00000020863
AA Change: R440Q

DomainStartEndE-ValueType
Pfam:LUC7 1 300 7.9e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165620
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171033
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik A G 5: 138,561,838 (GRCm39) F116S probably damaging Het
Abhd18 G A 3: 40,884,662 (GRCm39) probably null Het
Akr1c6 G T 13: 4,488,496 (GRCm39) C34F probably benign Het
Ankef1 T A 2: 136,386,695 (GRCm39) I180N possibly damaging Het
Ap1b1 G A 11: 4,969,294 (GRCm39) V217I probably benign Het
Arhgap27 T C 11: 103,223,989 (GRCm39) Q608R probably benign Het
Arhgap32 A G 9: 32,170,627 (GRCm39) T1136A probably benign Het
Ascc3 T A 10: 50,604,250 (GRCm39) Y1323* probably null Het
Bsx A C 9: 40,785,517 (GRCm39) Q15P probably benign Het
Cdh20 A G 1: 104,881,764 (GRCm39) I410V probably null Het
Cfhr4 T A 1: 139,708,835 (GRCm39) E24D probably benign Het
Col20a1 A G 2: 180,648,952 (GRCm39) D945G probably damaging Het
Cox20 A G 1: 178,150,043 (GRCm39) probably null Het
Cplane1 A G 15: 8,204,509 (GRCm39) K96E probably damaging Het
Cpne9 A G 6: 113,270,699 (GRCm39) D305G possibly damaging Het
Cyp2d12 A G 15: 82,439,444 (GRCm39) T33A probably benign Het
Dvl3 A G 16: 20,342,493 (GRCm39) R149G possibly damaging Het
Dysf A G 6: 84,163,446 (GRCm39) I1624V possibly damaging Het
Echs1 A T 7: 139,691,623 (GRCm39) L167Q probably damaging Het
Ect2 A T 3: 27,192,868 (GRCm39) N358K probably benign Het
Eml4 A G 17: 83,748,795 (GRCm39) I230V probably benign Het
Fut10 A G 8: 31,726,286 (GRCm39) Y347C probably damaging Het
Gfm2 C A 13: 97,299,483 (GRCm39) N401K probably damaging Het
Gm4795 C T 10: 44,882,735 (GRCm39) noncoding transcript Het
Gm5592 C A 7: 40,936,212 (GRCm39) T238N probably benign Het
Gm9892 T C 8: 52,649,260 (GRCm39) noncoding transcript Het
Greb1l G T 18: 10,469,388 (GRCm39) M134I possibly damaging Het
Grk3 A G 5: 113,085,669 (GRCm39) Y314H probably damaging Het
Hrh2 T C 13: 54,368,669 (GRCm39) I215T probably damaging Het
Ilkap A G 1: 91,312,960 (GRCm39) probably null Het
Inpp4a T C 1: 37,407,384 (GRCm39) Y233H probably damaging Het
Itgb4 G A 11: 115,879,752 (GRCm39) V635I probably damaging Het
Lmo7 C T 14: 102,137,502 (GRCm39) probably benign Het
Mis18bp1 A C 12: 65,205,515 (GRCm39) I219S probably benign Het
Myo9b G A 8: 71,806,768 (GRCm39) E1581K probably damaging Het
Nfs1 T A 2: 155,966,191 (GRCm39) Q458L probably damaging Het
Numb A T 12: 83,878,692 (GRCm39) probably null Het
Nxf1 G A 19: 8,741,514 (GRCm39) probably null Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Or52z1 A G 7: 103,437,475 (GRCm39) V3A probably benign Het
Pacc1 A G 1: 191,080,605 (GRCm39) E275G possibly damaging Het
Pde2a A T 7: 101,152,550 (GRCm39) Y371F possibly damaging Het
Phlpp2 G T 8: 110,666,505 (GRCm39) L1011F probably benign Het
Potefam3e T C 8: 19,797,815 (GRCm39) probably null Het
Prss27 G T 17: 24,264,571 (GRCm39) V245L probably benign Het
Rbm7 T C 9: 48,405,411 (GRCm39) N56S probably damaging Het
Rftn1 T C 17: 50,343,998 (GRCm39) I97V possibly damaging Het
Ric3 T C 7: 108,647,287 (GRCm39) T178A probably damaging Het
Rock1 A G 18: 10,104,323 (GRCm39) probably benign Het
Sall2 T C 14: 52,553,022 (GRCm39) T56A probably damaging Het
Sgk1 T C 10: 21,871,440 (GRCm39) S60P probably damaging Het
Smarcad1 G A 6: 65,050,223 (GRCm39) A281T probably damaging Het
Spta1 A G 1: 174,002,029 (GRCm39) H53R possibly damaging Het
Thbs4 T C 13: 92,900,092 (GRCm39) D468G probably damaging Het
Tmem108 A T 9: 103,376,981 (GRCm39) V156E probably benign Het
Tnfaip3 T G 10: 18,880,215 (GRCm39) R617S probably benign Het
Traf3 A G 12: 111,204,031 (GRCm39) M7V probably benign Het
Ubr3 T A 2: 69,809,741 (GRCm39) I1237N probably damaging Het
Vmn2r23 T C 6: 123,718,795 (GRCm39) V716A probably benign Het
Other mutations in Luc7l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00832:Luc7l3 APN 11 94,194,768 (GRCm39) missense probably benign 0.43
IGL02138:Luc7l3 APN 11 94,194,792 (GRCm39) missense probably benign 0.00
IGL02479:Luc7l3 APN 11 94,187,735 (GRCm39) unclassified probably benign
IGL02563:Luc7l3 APN 11 94,190,894 (GRCm39) splice site probably null
veritas UTSW 11 94,183,779 (GRCm39) missense probably damaging 0.98
R0096:Luc7l3 UTSW 11 94,192,320 (GRCm39) splice site probably benign
R0096:Luc7l3 UTSW 11 94,192,320 (GRCm39) splice site probably benign
R1706:Luc7l3 UTSW 11 94,188,582 (GRCm39) splice site probably benign
R3803:Luc7l3 UTSW 11 94,183,992 (GRCm39) utr 3 prime probably benign
R4260:Luc7l3 UTSW 11 94,186,876 (GRCm39) unclassified probably benign
R4647:Luc7l3 UTSW 11 94,200,467 (GRCm39) missense probably damaging 1.00
R5153:Luc7l3 UTSW 11 94,186,806 (GRCm39) unclassified probably benign
R5179:Luc7l3 UTSW 11 94,190,879 (GRCm39) missense possibly damaging 0.92
R5591:Luc7l3 UTSW 11 94,184,060 (GRCm39) unclassified probably benign
R6767:Luc7l3 UTSW 11 94,183,779 (GRCm39) missense probably damaging 0.98
R6912:Luc7l3 UTSW 11 94,200,462 (GRCm39) missense probably damaging 0.97
R7168:Luc7l3 UTSW 11 94,190,810 (GRCm39) missense unknown
R7541:Luc7l3 UTSW 11 94,186,791 (GRCm39) missense unknown
R9029:Luc7l3 UTSW 11 94,188,676 (GRCm39) missense unknown
R9154:Luc7l3 UTSW 11 94,190,793 (GRCm39) missense unknown
R9236:Luc7l3 UTSW 11 94,186,772 (GRCm39) missense unknown
R9620:Luc7l3 UTSW 11 94,212,545 (GRCm39) missense unknown
R9663:Luc7l3 UTSW 11 94,187,756 (GRCm39) missense unknown
Z1177:Luc7l3 UTSW 11 94,212,601 (GRCm39) frame shift probably null
Posted On 2015-04-16