Incidental Mutation 'R9029:Luc7l3'
ID 686949
Institutional Source Beutler Lab
Gene Symbol Luc7l3
Ensembl Gene ENSMUSG00000020863
Gene Name LUC7-like 3 (S. cerevisiae)
Synonyms 3300001P08Rik
MMRRC Submission 068858-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R9029 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 94181899-94213196 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94188676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 201 (V201A)
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: V201A
SMART Domains Protein: ENSMUSP00000021226
Gene: ENSMUSG00000020863
AA Change: V201A

DomainStartEndE-ValueType
Pfam:LUC7 3 293 2.3e-89 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107820
AA Change: V201A

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103450
Gene: ENSMUSG00000020863
AA Change: V201A

DomainStartEndE-ValueType
Pfam:LUC7 1 302 4.2e-72 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107821
AA Change: V201A

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103451
Gene: ENSMUSG00000020863
AA Change: V201A

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

DomainStartEndE-ValueType
coiled coil region 1 31 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138369
Predicted Effect probably damaging
Transcript: ENSMUST00000166312
AA Change: V201A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129919
Gene: ENSMUSG00000020863
AA Change: V201A

DomainStartEndE-ValueType
Pfam:LUC7 1 300 7.9e-72 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (56/56)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd35 A T 3: 96,591,460 (GRCm39) K582M probably benign Het
Catsper3 T G 13: 55,954,147 (GRCm39) V305G probably damaging Het
Chd9 G A 8: 91,683,198 (GRCm39) R546Q unknown Het
Cnot6l G A 5: 96,246,136 (GRCm39) T171I probably benign Het
Cpne3 A G 4: 19,535,292 (GRCm39) Y247H possibly damaging Het
Cramp1 C G 17: 25,232,884 (GRCm39) A39P probably damaging Het
Cyp26b1 A T 6: 84,554,035 (GRCm39) V194E probably benign Het
Dchs1 A G 7: 105,402,919 (GRCm39) S3208P probably benign Het
Dhrs3 A G 4: 144,653,755 (GRCm39) Y292C probably damaging Het
Eif3l T C 15: 78,968,412 (GRCm39) V227A probably damaging Het
Eif4enif1 T C 11: 3,174,716 (GRCm39) V290A probably damaging Het
Epb41l4a A C 18: 34,012,042 (GRCm39) Y159* probably null Het
Gm5460 T A 14: 33,739,326 (GRCm39) S103T Het
Gsto1 A T 19: 47,852,837 (GRCm39) Y224F probably benign Het
Hpd G A 5: 123,313,973 (GRCm39) T271M probably damaging Het
Ift74 T C 4: 94,506,271 (GRCm39) I18T probably benign Het
Kif12 A G 4: 63,087,704 (GRCm39) C260R probably damaging Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Mcrip2 T C 17: 26,082,989 (GRCm39) E146G probably damaging Het
Mctp1 T A 13: 76,836,741 (GRCm39) Y323N probably benign Het
Micu2 T A 14: 58,156,363 (GRCm39) I370F probably damaging Het
Mug2 T A 6: 122,061,328 (GRCm39) V1416E probably damaging Het
Mup3 T C 4: 62,003,540 (GRCm39) N110D probably damaging Het
Nav3 C T 10: 109,699,613 (GRCm39) D294N possibly damaging Het
Nphs2 G A 1: 156,140,592 (GRCm39) A110T probably benign Het
Or1a1 T C 11: 74,086,563 (GRCm39) I78T possibly damaging Het
Or5t7 A G 2: 86,506,831 (GRCm39) M282T probably damaging Het
Or6c215 G T 10: 129,637,926 (GRCm39) P156Q probably damaging Het
Otof C T 5: 30,527,419 (GRCm39) probably null Het
Pgrmc2 G T 3: 41,037,105 (GRCm39) R109S probably benign Het
Plb1 G A 5: 32,439,079 (GRCm39) V214I probably damaging Het
Ppp2r5d C T 17: 46,998,906 (GRCm39) S52N probably benign Het
Rrp12 C A 19: 41,859,718 (GRCm39) E1082* probably null Het
Skint3 A G 4: 112,111,151 (GRCm39) E92G probably damaging Het
Slc12a1 C G 2: 124,996,004 (GRCm39) N52K probably benign Het
Smu1 A G 4: 40,738,361 (GRCm39) Y458H probably damaging Het
Spsb3 C T 17: 25,110,506 (GRCm39) P317S unknown Het
Ssc5d A T 7: 4,930,919 (GRCm39) Q167L probably damaging Het
Ssh2 T C 11: 77,328,454 (GRCm39) V340A probably damaging Het
Stag3 G A 5: 138,296,296 (GRCm39) R453H probably damaging Het
Svil T A 18: 5,056,239 (GRCm39) F371I probably benign Het
Tas2r140 A C 6: 133,032,181 (GRCm39) S192R possibly damaging Het
Tdrp T C 8: 14,003,840 (GRCm39) I166V possibly damaging Het
Tgm3 C A 2: 129,871,680 (GRCm39) Q269K probably benign Het
Thsd7b G A 1: 130,087,426 (GRCm39) C1181Y probably damaging Het
Tinag A T 9: 76,934,296 (GRCm39) probably benign Het
Tnrc6b T C 15: 80,763,179 (GRCm39) V227A possibly damaging Het
Tox3 A C 8: 90,996,864 (GRCm39) L133R possibly damaging Het
Tshz1 A T 18: 84,031,639 (GRCm39) I923N probably damaging Het
Vps13c T A 9: 67,855,429 (GRCm39) V2498D probably damaging Het
Vps41 T A 13: 18,994,723 (GRCm39) probably null Het
Xylt2 T C 11: 94,555,462 (GRCm39) D850G probably damaging Het
Zfp229 T A 17: 21,964,321 (GRCm39) S184T possibly damaging Het
Zfp518a G A 19: 40,901,225 (GRCm39) V385I probably benign Het
Zfp595 C A 13: 67,468,989 (GRCm39) M12I probably benign Het
Zfp750 T C 11: 121,403,149 (GRCm39) Q533R 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
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'- CAAGGTTTCTACTGTTGCTTGACC -3'
(R):5'- CAGACTTGAGCAGTTGGTGTTC -3'

Sequencing Primer
(F):5'- CTGTTGCTTGACCAAATTTTAGC -3'
(R):5'- CATTTGTGGCTGGAGAGATGGAAG -3'
Posted On 2021-11-19