Incidental Mutation 'IGL00785:Luc7l2'
ID 11874
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Luc7l2
Ensembl Gene ENSMUSG00000029823
Gene Name LUC7-like 2 (S. cerevisiae)
Synonyms CGI-59, 4930471C18Rik, CGI-74
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.305) question?
Stock # IGL00785
Quality Score
Status
Chromosome 6
Chromosomal Location 38528269-38586405 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38575721 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 261 (S261P)
Ref Sequence ENSEMBL: ENSMUSP00000055254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057692] [ENSMUST00000160511] [ENSMUST00000161227] [ENSMUST00000161538] [ENSMUST00000162386] [ENSMUST00000163047]
AlphaFold Q7TNC4
Predicted Effect possibly damaging
Transcript: ENSMUST00000057692
AA Change: S261P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000055254
Gene: ENSMUSG00000029823
AA Change: S261P

DomainStartEndE-ValueType
Pfam:LUC7 5 257 6.5e-84 PFAM
low complexity region 269 341 N/A INTRINSIC
low complexity region 347 370 N/A INTRINSIC
low complexity region 377 388 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160430
SMART Domains Protein: ENSMUSP00000124686
Gene: ENSMUSG00000029823

DomainStartEndE-ValueType
Pfam:LUC7 1 211 9.9e-70 PFAM
low complexity region 217 281 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160511
Predicted Effect unknown
Transcript: ENSMUST00000161227
AA Change: S208P
SMART Domains Protein: ENSMUSP00000125111
Gene: ENSMUSG00000029823
AA Change: S208P

DomainStartEndE-ValueType
Pfam:LUC7 1 288 6.9e-65 PFAM
low complexity region 294 317 N/A INTRINSIC
low complexity region 324 335 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161538
SMART Domains Protein: ENSMUSP00000124010
Gene: ENSMUSG00000029823

DomainStartEndE-ValueType
Pfam:LUC7 4 309 3.3e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162386
Predicted Effect probably benign
Transcript: ENSMUST00000163047
SMART Domains Protein: ENSMUSP00000125394
Gene: ENSMUSG00000029823

DomainStartEndE-ValueType
Pfam:LUC7 1 257 3.2e-66 PFAM
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 that contains a C2H2-type zinc finger, coiled-coil region and arginine, serine-rich (RS) domain. A similar protein in mouse interacts with sodium channel modifier 1, and the encoded protein may be involved in the recognition of non-consensus splice donor sites in association with the U1 snRNP spliceosomal subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cpt1a T A 19: 3,416,389 (GRCm39) N313K possibly damaging Het
Crb2 G A 2: 37,682,076 (GRCm39) C819Y probably damaging Het
Ctnna3 T G 10: 63,402,612 (GRCm39) F108V probably damaging Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
Fam120a A G 13: 49,042,609 (GRCm39) S931P probably benign Het
Ganc A C 2: 120,272,079 (GRCm39) Y579S probably damaging Het
Hsd17b12 A G 2: 93,875,759 (GRCm39) S189P probably damaging Het
Itprid2 A G 2: 79,487,612 (GRCm39) E565G possibly damaging Het
Kif11 C A 19: 37,392,745 (GRCm39) L559I probably benign Het
Kif11 T C 19: 37,392,746 (GRCm39) L559P probably damaging Het
Myo7a T C 7: 97,703,555 (GRCm39) K2035E probably damaging Het
Nbea A G 3: 55,862,814 (GRCm39) S1813P probably benign Het
Osbpl8 A G 10: 111,108,905 (GRCm39) T396A probably benign Het
Ppfibp2 A G 7: 107,337,094 (GRCm39) T560A probably benign Het
Rictor A C 15: 6,806,431 (GRCm39) Q683P probably damaging Het
Ryr3 A T 2: 112,666,448 (GRCm39) H1519Q possibly damaging Het
Slc34a2 A T 5: 53,222,950 (GRCm39) I347F probably benign Het
Sned1 C A 1: 93,201,891 (GRCm39) probably benign Het
St7l A G 3: 104,780,895 (GRCm39) probably benign Het
Trmu T A 15: 85,767,032 (GRCm39) D80E probably benign Het
Trpv4 A G 5: 114,766,686 (GRCm39) V620A probably damaging Het
Ubr2 G A 17: 47,255,791 (GRCm39) T1370I possibly damaging Het
Xpo5 T C 17: 46,515,618 (GRCm39) V48A probably damaging Het
Zfp638 T C 6: 83,906,146 (GRCm39) W104R probably damaging Het
Other mutations in Luc7l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Luc7l2 APN 6 38,585,105 (GRCm39) unclassified probably benign
IGL00684:Luc7l2 APN 6 38,585,111 (GRCm39) unclassified probably benign
R0004:Luc7l2 UTSW 6 38,566,169 (GRCm39) missense probably damaging 1.00
R0304:Luc7l2 UTSW 6 38,569,711 (GRCm39) missense probably damaging 0.98
R1820:Luc7l2 UTSW 6 38,575,754 (GRCm39) splice site probably null
R2223:Luc7l2 UTSW 6 38,542,659 (GRCm39) intron probably benign
R3815:Luc7l2 UTSW 6 38,547,526 (GRCm39) missense possibly damaging 0.83
R5016:Luc7l2 UTSW 6 38,562,036 (GRCm39) missense possibly damaging 0.54
R7583:Luc7l2 UTSW 6 38,528,820 (GRCm39) missense probably damaging 0.98
R7655:Luc7l2 UTSW 6 38,580,399 (GRCm39) missense unknown
R7656:Luc7l2 UTSW 6 38,580,399 (GRCm39) missense unknown
R7722:Luc7l2 UTSW 6 38,580,243 (GRCm39) missense unknown
R7761:Luc7l2 UTSW 6 38,531,999 (GRCm39) critical splice donor site probably null
R8105:Luc7l2 UTSW 6 38,569,588 (GRCm39) missense probably benign 0.29
R9222:Luc7l2 UTSW 6 38,542,633 (GRCm39) missense probably benign
R9420:Luc7l2 UTSW 6 38,547,489 (GRCm39) missense probably damaging 1.00
R9544:Luc7l2 UTSW 6 38,580,315 (GRCm39) missense unknown
Z1088:Luc7l2 UTSW 6 38,580,304 (GRCm39) utr 3 prime probably benign
Z1176:Luc7l2 UTSW 6 38,528,843 (GRCm39) nonsense probably null
Posted On 2012-12-06