Incidental Mutation 'IGL02318:Luc7l3'
ID288118
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: 0.957) question?
Stock #IGL02318
Quality Score
Status
Chromosome11
Chromosomal Location94287890-94321988 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 94292993 bp
ZygosityHeterozygous
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]
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 noncoding transcript
Transcript: ENSMUST00000165620
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: 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: 138,563,576 F116S probably damaging Het
2410089E03Rik A G 15: 8,175,025 K96E probably damaging Het
4930467E23Rik T C 8: 19,747,799 probably null Het
Abhd18 G A 3: 40,930,227 probably null Het
Akr1c6 G T 13: 4,438,497 C34F probably benign Het
Ankef1 T A 2: 136,544,775 I180N possibly damaging Het
Ap1b1 G A 11: 5,019,294 V217I probably benign Het
Arhgap27 T C 11: 103,333,163 Q608R probably benign Het
Arhgap32 A G 9: 32,259,331 T1136A probably benign Het
Ascc3 T A 10: 50,728,154 Y1323* probably null Het
Bsx A C 9: 40,874,221 Q15P probably benign Het
Cdh20 A G 1: 104,954,039 I410V probably null Het
Col20a1 A G 2: 181,007,159 D945G probably damaging Het
Cox20 A G 1: 178,322,478 probably null Het
Cpne9 A G 6: 113,293,738 D305G possibly damaging Het
Cyp2d12 A G 15: 82,555,243 T33A probably benign Het
Dvl3 A G 16: 20,523,743 R149G possibly damaging Het
Dysf A G 6: 84,186,464 I1624V possibly damaging Het
Echs1 A T 7: 140,111,710 L167Q probably damaging Het
Ect2 A T 3: 27,138,719 N358K probably benign Het
Eml4 A G 17: 83,441,366 I230V probably benign Het
Fut10 A G 8: 31,236,258 Y347C probably damaging Het
Gfm2 C A 13: 97,162,975 N401K probably damaging Het
Gm4788 T A 1: 139,781,097 E24D probably benign Het
Gm4795 C T 10: 45,006,639 noncoding transcript Het
Gm5592 C A 7: 41,286,788 T238N probably benign Het
Gm9892 T C 8: 52,196,225 noncoding transcript Het
Greb1l G T 18: 10,469,388 M134I possibly damaging Het
Grk3 A G 5: 112,937,803 Y314H probably damaging Het
Hrh2 T C 13: 54,214,650 I215T probably damaging Het
Ilkap A G 1: 91,385,238 probably null Het
Inpp4a T C 1: 37,368,303 Y233H probably damaging Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Lmo7 C T 14: 101,900,066 probably benign Het
Mis18bp1 A C 12: 65,158,741 I219S probably benign Het
Myo9b G A 8: 71,354,124 E1581K probably damaging Het
Nfs1 T A 2: 156,124,271 Q458L probably damaging Het
Numb A T 12: 83,831,918 probably null Het
Nxf1 G A 19: 8,764,150 probably null Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr67 A G 7: 103,788,268 V3A probably benign Het
Pde2a A T 7: 101,503,343 Y371F possibly damaging Het
Phlpp2 G T 8: 109,939,873 L1011F probably benign Het
Prss27 G T 17: 24,045,597 V245L probably benign Het
Rbm7 T C 9: 48,494,111 N56S probably damaging Het
Rftn1 T C 17: 50,036,970 I97V possibly damaging Het
Ric3 T C 7: 109,048,080 T178A probably damaging Het
Rock1 A G 18: 10,104,323 probably benign Het
Sall2 T C 14: 52,315,565 T56A probably damaging Het
Sgk1 T C 10: 21,995,541 S60P probably damaging Het
Smarcad1 G A 6: 65,073,239 A281T probably damaging Het
Spta1 A G 1: 174,174,463 H53R possibly damaging Het
Thbs4 T C 13: 92,763,584 D468G probably damaging Het
Tmem108 A T 9: 103,499,782 V156E probably benign Het
Tmem206 A G 1: 191,348,408 E275G possibly damaging Het
Tnfaip3 T G 10: 19,004,467 R617S probably benign Het
Traf3 A G 12: 111,237,597 M7V probably benign Het
Ubr3 T A 2: 69,979,397 I1237N probably damaging Het
Vmn2r23 T C 6: 123,741,836 V716A probably benign Het
Other mutations in Luc7l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00832:Luc7l3 APN 11 94303942 missense probably benign 0.43
IGL02138:Luc7l3 APN 11 94303966 missense probably benign 0.00
IGL02479:Luc7l3 APN 11 94296909 unclassified probably benign
IGL02563:Luc7l3 APN 11 94300068 splice site probably null
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
Posted On2015-04-16