Incidental Mutation 'R3815:Luc7l2'
ID 274233
Institutional Source Beutler Lab
Gene Symbol Luc7l2
Ensembl Gene ENSMUSG00000029823
Gene Name LUC7-like 2 (S. cerevisiae)
Synonyms CGI-59, 4930471C18Rik, CGI-74
MMRRC Submission 040770-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.305) question?
Stock # R3815 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 38528269-38586405 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38547526 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 69 (S69P)
Ref Sequence ENSEMBL: ENSMUSP00000125573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057692] [ENSMUST00000159936] [ENSMUST00000160511] [ENSMUST00000161227] [ENSMUST00000161538] [ENSMUST00000162386] [ENSMUST00000163047]
AlphaFold Q7TNC4
Predicted Effect probably benign
Transcript: ENSMUST00000057692
AA Change: V48A

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000055254
Gene: ENSMUSG00000029823
AA Change: V48A

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 possibly damaging
Transcript: ENSMUST00000159936
AA Change: S69P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
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 possibly damaging
Transcript: ENSMUST00000160511
AA Change: S69P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160582
Predicted Effect probably benign
Transcript: ENSMUST00000161227
SMART Domains Protein: ENSMUSP00000125111
Gene: ENSMUSG00000029823

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
AA Change: V48A

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000124010
Gene: ENSMUSG00000029823
AA Change: V48A

DomainStartEndE-ValueType
Pfam:LUC7 4 309 3.3e-93 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000162386
AA Change: S69P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162530
Predicted Effect probably benign
Transcript: ENSMUST00000163047
SMART Domains Protein: ENSMUSP00000125394
Gene: ENSMUSG00000029823

DomainStartEndE-ValueType
Pfam:LUC7 1 257 3.2e-66 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency 100% (55/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,936,024 (GRCm39) probably benign Het
Aldh18a1 A G 19: 40,558,944 (GRCm39) S299P probably damaging Het
Ankrd6 A C 4: 32,806,206 (GRCm39) S618R probably benign Het
Apobec3 G T 15: 79,783,301 (GRCm39) R126M possibly damaging Het
Arl8b T A 6: 108,790,658 (GRCm39) V65D probably damaging Het
AW554918 C T 18: 25,533,104 (GRCm39) R253C probably benign Het
Cd177 A G 7: 24,453,817 (GRCm39) V358A probably benign Het
Cdca7l G A 12: 117,835,948 (GRCm39) V95I probably damaging Het
Ces1e A G 8: 93,928,467 (GRCm39) probably null Het
Cfap90 A G 13: 68,759,344 (GRCm39) H106R probably damaging Het
Coq5 T G 5: 115,433,957 (GRCm39) F306V probably damaging Het
Cpsf1 A G 15: 76,485,349 (GRCm39) V501A probably benign Het
Csmd1 C T 8: 16,052,522 (GRCm39) A2201T probably damaging Het
Cul5 T A 9: 53,534,243 (GRCm39) I630L probably benign Het
Cyp4a12b A T 4: 115,289,667 (GRCm39) D178V probably damaging Het
Dedd A G 1: 171,166,469 (GRCm39) E135G probably benign Het
Ecel1 A G 1: 87,080,622 (GRCm39) F368S probably damaging Het
Ext1 A C 15: 53,208,485 (GRCm39) I92S probably benign Het
Fbxw5 A T 2: 25,393,576 (GRCm39) D268V possibly damaging Het
Flacc1 T G 1: 58,698,164 (GRCm39) N379T probably damaging Het
Gen1 A T 12: 11,302,034 (GRCm39) V192E possibly damaging Het
Gm11077 T G 6: 140,675,041 (GRCm39) V11G unknown Het
Ift88 A T 14: 57,678,438 (GRCm39) E150V possibly damaging Het
Kcna1 T C 6: 126,620,009 (GRCm39) R104G probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Krt82 A G 15: 101,459,035 (GRCm39) S2P probably damaging Het
Ly9 G T 1: 171,416,653 (GRCm39) T537N possibly damaging Het
Mamstr G T 7: 45,293,956 (GRCm39) R20L probably damaging Het
Nav1 C A 1: 135,398,862 (GRCm39) K573N possibly damaging Het
Or5b104 T C 19: 13,072,277 (GRCm39) H245R probably damaging Het
Or8b12c C T 9: 37,715,465 (GRCm39) S86L probably benign Het
Or8b40 A T 9: 38,027,922 (GRCm39) T277S possibly damaging Het
Or8b55 A G 9: 38,727,722 (GRCm39) K308E possibly damaging Het
Palld T A 8: 62,002,871 (GRCm39) probably benign Het
Pcdha2 A G 18: 37,074,748 (GRCm39) Y793C probably benign Het
Pcdhb4 A T 18: 37,441,065 (GRCm39) D125V probably damaging Het
Pomgnt1 T A 4: 116,011,139 (GRCm39) probably null Het
Ppp1r9b A T 11: 94,883,359 (GRCm39) E329V probably damaging Het
Rarres1 T A 3: 67,422,654 (GRCm39) D32V probably benign Het
Rhobtb1 A G 10: 69,121,523 (GRCm39) H53R possibly damaging Het
Ryr1 A T 7: 28,772,327 (GRCm39) S2494T probably damaging Het
Sapcd2 G A 2: 25,263,518 (GRCm39) probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Senp1 A C 15: 97,954,713 (GRCm39) D490E probably damaging Het
Sfrp5 C T 19: 42,187,230 (GRCm39) R280H probably benign Het
Skint5 A G 4: 113,486,319 (GRCm39) probably benign Het
Skint5 G A 4: 113,703,496 (GRCm39) T499I possibly damaging Het
Smad1 G A 8: 80,070,359 (GRCm39) A393V probably benign Het
Sorl1 A G 9: 41,975,345 (GRCm39) L487P possibly damaging Het
Spire1 G T 18: 67,639,733 (GRCm39) T273K probably benign Het
Tep1 T C 14: 51,105,772 (GRCm39) T83A possibly damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ttn T A 2: 76,552,077 (GRCm39) R29441* probably null Het
Wdr37 A G 13: 8,903,632 (GRCm39) probably benign 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
IGL00785:Luc7l2 APN 6 38,575,721 (GRCm39) missense possibly damaging 0.73
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
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
Predicted Primers PCR Primer
(F):5'- TGCAGTACATAGACTGCAACTG -3'
(R):5'- TGACCCTGTGAGAACATGCC -3'

Sequencing Primer
(F):5'- GCAACTGCATGCTGTCTAAAATAG -3'
(R):5'- TGTGAGAACATGCCCCTGG -3'
Posted On 2015-04-02