Incidental Mutation 'R9236:Luc7l3'
ID 700495
Institutional Source Beutler Lab
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 # R9236 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 94181899-94213196 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94186772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 371 (E371G)
Ref Sequence ENSEMBL: ENSMUSP00000021226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021226] [ENSMUST00000107820] [ENSMUST00000107821] [ENSMUST00000107822] [ENSMUST00000166312]
AlphaFold Q5SUF2
Predicted Effect unknown
Transcript: ENSMUST00000021226
AA Change: E371G
SMART Domains Protein: ENSMUSP00000021226
Gene: ENSMUSG00000020863
AA Change: E371G

DomainStartEndE-ValueType
Pfam:LUC7 3 293 2.3e-89 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000107820
AA Change: E371G
SMART Domains Protein: ENSMUSP00000103450
Gene: ENSMUSG00000020863
AA Change: E371G

DomainStartEndE-ValueType
Pfam:LUC7 1 302 4.2e-72 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000107821
AA Change: E371G
SMART Domains Protein: ENSMUSP00000103451
Gene: ENSMUSG00000020863
AA Change: E371G

DomainStartEndE-ValueType
Pfam:LUC7 1 302 4.2e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107822
Predicted Effect
SMART Domains Protein: ENSMUSP00000131166
Gene: ENSMUSG00000020863
AA Change: E106G

DomainStartEndE-ValueType
coiled coil region 1 31 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138369
Predicted Effect unknown
Transcript: ENSMUST00000166312
AA Change: E371G
SMART Domains Protein: ENSMUSP00000129919
Gene: ENSMUSG00000020863
AA Change: E371G

DomainStartEndE-ValueType
Pfam:LUC7 1 300 7.9e-72 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A G 17: 24,626,712 (GRCm39) T1514A probably benign Het
Abcb1b G A 5: 8,874,893 (GRCm39) probably null Het
Adam12 A C 7: 133,614,022 (GRCm39) L109R probably benign Het
Adgre1 T A 17: 57,709,782 (GRCm39) Y146* probably null Het
Ap5m1 G T 14: 49,311,064 (GRCm39) V45L probably benign Het
Bpifa5 A T 2: 154,006,150 (GRCm39) I113F probably damaging Het
Cacna1h A T 17: 25,600,424 (GRCm39) M1639K probably damaging Het
Celsr1 T C 15: 85,915,051 (GRCm39) E974G probably damaging Het
Cfap251 T C 5: 123,428,125 (GRCm39) C980R probably damaging Het
Cggbp1 C T 16: 64,676,318 (GRCm39) A128V probably benign Het
Col7a1 G T 9: 108,789,684 (GRCm39) R898L unknown Het
Cycs C T 6: 50,543,507 (GRCm39) probably benign Het
Cyp2c54 A T 19: 40,060,938 (GRCm39) Y68* probably null Het
Dock9 T C 14: 121,876,970 (GRCm39) D467G probably damaging Het
Eif2s1 A T 12: 78,921,343 (GRCm39) I83L probably benign Het
Eppk1 T A 15: 75,990,510 (GRCm39) R2124* probably null Het
Fkbp15 G C 4: 62,254,664 (GRCm39) L279V probably damaging Het
Fndc1 A G 17: 7,992,460 (GRCm39) V412A unknown Het
Gfap A G 11: 102,786,327 (GRCm39) I194T probably damaging Het
Gpatch2 C A 1: 186,965,977 (GRCm39) T350K probably benign Het
Hecw1 C T 13: 14,490,643 (GRCm39) G783D possibly damaging Het
Hipk1 A T 3: 103,671,789 (GRCm39) W437R probably damaging Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Hr C T 14: 70,809,396 (GRCm39) P1136S probably damaging Het
Il1rl2 T A 1: 40,368,221 (GRCm39) N130K probably damaging Het
Kif13b A G 14: 64,982,383 (GRCm39) I532V probably benign Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Lrba T A 3: 86,261,066 (GRCm39) I1474K probably benign Het
Myo5b T A 18: 74,853,934 (GRCm39) D1184E probably benign Het
N4bp2l2 A G 5: 150,585,479 (GRCm39) M167T probably benign Het
N4bp2l2 T C 5: 150,585,734 (GRCm39) H82R probably benign Het
Ndufaf1 T C 2: 119,490,712 (GRCm39) E118G possibly damaging Het
Nedd9 A T 13: 41,492,153 (GRCm39) V119E possibly damaging Het
Nlgn3 T C X: 100,352,390 (GRCm39) V179A probably damaging Het
Ntmt1 T A 2: 30,712,407 (GRCm39) L150Q probably damaging Het
Or5b99 G T 19: 12,976,763 (GRCm39) V138F probably damaging Het
Or7g21 A G 9: 19,033,206 (GRCm39) *315W probably null Het
Or8b40 A T 9: 38,027,496 (GRCm39) M140L possibly damaging Het
Or8h7 C T 2: 86,720,622 (GRCm39) S299N probably benign Het
Osbpl8 A G 10: 111,106,496 (GRCm39) N301S probably benign Het
Pgm5 A T 19: 24,839,003 (GRCm39) S51T probably benign Het
Pitx2 A G 3: 129,009,345 (GRCm39) K88R probably damaging Het
Pnma8b A T 7: 16,679,964 (GRCm39) D316V unknown Het
Pop1 C A 15: 34,499,558 (GRCm39) P41Q probably damaging Het
Rcor1 A C 12: 111,070,080 (GRCm39) K292N Het
Rps6kc1 C T 1: 190,532,200 (GRCm39) D601N probably damaging Het
Sema7a A T 9: 57,862,408 (GRCm39) I204F probably damaging Het
Slc29a4 T C 5: 142,698,702 (GRCm39) L121P probably damaging Het
Slc4a2 A G 5: 24,644,308 (GRCm39) T983A probably benign Het
Slc4a4 C T 5: 89,194,158 (GRCm39) R213* probably null Het
Tbc1d2 G A 4: 46,609,029 (GRCm39) T736I probably benign Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Trim28 G A 7: 12,763,490 (GRCm39) A544T probably benign Het
Trip12 A C 1: 84,703,550 (GRCm39) L1895R probably damaging Het
Ttc41 A T 10: 86,612,594 (GRCm39) Y1289F probably damaging Het
Vmn1r70 G A 7: 10,368,016 (GRCm39) C168Y probably damaging Het
Vtcn1 C A 3: 100,795,533 (GRCm39) R167S probably benign Het
Zfp369 G A 13: 65,445,010 (GRCm39) V718I probably benign Het
Zfp608 T C 18: 55,032,354 (GRCm39) T529A probably benign Het
Zfp936 A G 7: 42,836,922 (GRCm39) N46D probably benign Het
Zfp974 A G 7: 27,610,342 (GRCm39) V461A possibly damaging Het
Zgrf1 A G 3: 127,378,312 (GRCm39) N1024S 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
IGL02318:Luc7l3 APN 11 94,183,819 (GRCm39) missense probably benign 0.05
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
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
Predicted Primers PCR Primer
(F):5'- GCTCAAGCTCAGAAAGTCTTTAAGAC -3'
(R):5'- ATGTGATTCTCTGAGCCCTTTTAG -3'

Sequencing Primer
(F):5'- CTTTAAGACGGTCAGGCTGGC -3'
(R):5'- GAGCCCTTTTAGTAATACCAGCTG -3'
Posted On 2022-02-07