Incidental Mutation 'R5591:Luc7l3'
ID 437536
Institutional Source Beutler Lab
Gene Symbol Luc7l3
Ensembl Gene ENSMUSG00000020863
Gene Name LUC7-like 3 (S. cerevisiae)
Synonyms 3300001P08Rik
MMRRC Submission 043269-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R5591 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 94181899-94213196 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 94184060 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000021226] [ENSMUST00000107820] [ENSMUST00000107821] [ENSMUST00000107822] [ENSMUST00000166312]
AlphaFold Q5SUF2
Predicted Effect unknown
Transcript: ENSMUST00000021226
AA Change: S395G
SMART Domains Protein: ENSMUSP00000021226
Gene: ENSMUSG00000020863
AA Change: S395G

DomainStartEndE-ValueType
Pfam:LUC7 3 293 2.3e-89 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000107820
AA Change: S395G
SMART Domains Protein: ENSMUSP00000103450
Gene: ENSMUSG00000020863
AA Change: S395G

DomainStartEndE-ValueType
Pfam:LUC7 1 302 4.2e-72 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000107821
AA Change: S395G
SMART Domains Protein: ENSMUSP00000103451
Gene: ENSMUSG00000020863
AA Change: S395G

DomainStartEndE-ValueType
Pfam:LUC7 1 302 4.2e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107822
Predicted Effect unknown
Transcript: ENSMUST00000132623
AA Change: S130G
SMART Domains Protein: ENSMUSP00000131166
Gene: ENSMUSG00000020863
AA Change: S130G

DomainStartEndE-ValueType
coiled coil region 1 31 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135311
Predicted Effect probably benign
Transcript: ENSMUST00000138369
Predicted Effect unknown
Transcript: ENSMUST00000166312
AA Change: S395G
SMART Domains Protein: ENSMUSP00000129919
Gene: ENSMUSG00000020863
AA Change: S395G

DomainStartEndE-ValueType
Pfam:LUC7 1 300 7.9e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171033
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165620
Meta Mutation Damage Score 0.0734 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 97% (56/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh16a1 T C 7: 44,794,076 (GRCm39) E13G probably null Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Bub1 A T 2: 127,661,263 (GRCm39) M276K probably benign Het
Casp14 A T 10: 78,550,179 (GRCm39) D156E unknown Het
Ccdc82 T A 9: 13,272,822 (GRCm39) probably null Het
Cdc42bpb T C 12: 111,289,521 (GRCm39) N436S probably benign Het
Cyp2j12 A G 4: 96,029,359 (GRCm39) probably benign Het
Cysltr2 T C 14: 73,266,931 (GRCm39) K260E probably benign Het
Daxx T C 17: 34,130,662 (GRCm39) S226P probably damaging Het
Gm3676 T C 14: 41,365,181 (GRCm39) Y158C probably benign Het
Gnai1 A T 5: 18,476,844 (GRCm39) I285K probably benign Het
Gpr179 C T 11: 97,236,581 (GRCm39) V417I probably benign Het
Helz2 C T 2: 180,882,051 (GRCm39) M247I probably damaging Het
Hmcn2 C T 2: 31,234,059 (GRCm39) L275F probably damaging Het
Ifi27l2b A G 12: 103,417,566 (GRCm39) V207A probably damaging Het
Isg20l2 C T 3: 87,837,731 (GRCm39) probably benign Het
Itga6 A G 2: 71,670,934 (GRCm39) D221G probably damaging Het
Lca5l T C 16: 95,979,929 (GRCm39) Y67C probably damaging Het
Loxl3 T A 6: 83,025,018 (GRCm39) C249S probably damaging Het
Lyst T G 13: 13,917,918 (GRCm39) I3326S probably damaging Het
Mbd5 A C 2: 49,164,681 (GRCm39) Q958H probably damaging Het
Mlip G A 9: 77,137,764 (GRCm39) S381L probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mrm3 G A 11: 76,140,907 (GRCm39) R305H probably benign Het
Mtrex A T 13: 113,063,890 (GRCm39) M1K probably null Het
Or10ak7 A T 4: 118,791,658 (GRCm39) I127K probably damaging Het
Or1j18 A T 2: 36,625,244 (GRCm39) I304F probably benign Het
Or2aj5 T A 16: 19,424,608 (GRCm39) Q270L probably damaging Het
Or2ak7 A G 11: 58,574,951 (GRCm39) N84S probably benign Het
Or2d3c A T 7: 106,526,489 (GRCm39) M59K probably damaging Het
Or4c126 A G 2: 89,823,751 (GRCm39) T5A possibly damaging Het
Or51q1 G T 7: 103,629,320 (GRCm39) R307L probably benign Het
P3h3 C T 6: 124,831,658 (GRCm39) probably benign Het
Pals2 A G 6: 50,157,159 (GRCm39) S276G probably benign Het
Plekhg3 C T 12: 76,607,066 (GRCm39) S42L possibly damaging Het
Polq A G 16: 36,832,247 (GRCm39) probably benign Het
Pramel16 T C 4: 143,675,377 (GRCm39) Y483C probably damaging Het
Pramel28 G T 4: 143,691,530 (GRCm39) L398I probably damaging Het
Raph1 G A 1: 60,540,905 (GRCm39) probably benign Het
Rnf144b G A 13: 47,396,430 (GRCm39) probably null Het
Ryr2 A G 13: 11,609,900 (GRCm39) S4309P probably benign Het
Sash1 A T 10: 8,601,482 (GRCm39) S1158T probably benign Het
Sim2 T C 16: 93,898,048 (GRCm39) V94A probably damaging Het
Sirt5 A G 13: 43,525,317 (GRCm39) D42G possibly damaging Het
Smarcal1 A T 1: 72,630,412 (GRCm39) K155N probably damaging Het
Spam1 A G 6: 24,800,545 (GRCm39) Y428C probably damaging Het
Spef2 T C 15: 9,583,922 (GRCm39) N1655S probably benign Het
Sympk A G 7: 18,787,964 (GRCm39) E1160G probably damaging Het
Tmem192 A G 8: 65,418,254 (GRCm39) Y168C possibly damaging Het
Ttn T A 2: 76,540,012 (GRCm39) M25998L probably benign Het
Usp48 A G 4: 137,379,963 (GRCm39) probably benign Het
Vamp4 A G 1: 162,415,811 (GRCm39) I71V possibly damaging Het
Washc5 C A 15: 59,241,012 (GRCm39) D108Y probably damaging Het
Wdfy4 T A 14: 32,829,087 (GRCm39) H1043L probably benign Het
Zcchc14 C T 8: 122,332,187 (GRCm39) probably benign Het
Zfp407 A G 18: 84,579,262 (GRCm39) F617S probably damaging Het
Zfp869 T A 8: 70,160,342 (GRCm39) N77I 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
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
Predicted Primers PCR Primer
(F):5'- TGTCTTTTCCTTCAGAAGAGGC -3'
(R):5'- TGAGCTCTGCAGACTGTCTC -3'

Sequencing Primer
(F):5'- GTGCATACTTACGCTGCACTG -3'
(R):5'- CACAGCCGTGGGAAATGGTTC -3'
Posted On 2016-10-26