Incidental Mutation 'R7761:Luc7l2'
ID 597858
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 045817-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.305) question?
Stock # R7761 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 38528269-38586405 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 38531999 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057692] [ENSMUST00000159936] [ENSMUST00000160511] [ENSMUST00000161227] [ENSMUST00000161227] [ENSMUST00000161538] [ENSMUST00000162386] [ENSMUST00000163047] [ENSMUST00000163047]
AlphaFold Q7TNC4
Predicted Effect probably benign
Transcript: ENSMUST00000057692
SMART Domains Protein: ENSMUSP00000055254
Gene: ENSMUSG00000029823

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 probably benign
Transcript: ENSMUST00000159936
Predicted Effect probably benign
Transcript: ENSMUST00000160511
Predicted Effect probably null
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 null
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
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 null
Transcript: ENSMUST00000163047
SMART Domains Protein: ENSMUSP00000125394
Gene: ENSMUSG00000029823

DomainStartEndE-ValueType
Pfam:LUC7 1 257 3.2e-66 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000163047
SMART Domains Protein: ENSMUSP00000125394
Gene: ENSMUSG00000029823

DomainStartEndE-ValueType
Pfam:LUC7 1 257 3.2e-66 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 96% (72/75)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,369,447 (GRCm39) C378Y probably damaging Het
Adcy6 A C 15: 98,497,895 (GRCm39) L421R probably damaging Het
AI837181 A G 19: 5,476,319 (GRCm39) T161A probably benign Het
Ascl2 A G 7: 142,521,840 (GRCm39) S203P possibly damaging Het
Casq2 G T 3: 102,052,580 (GRCm39) W364L probably damaging Het
Cdc20 T C 4: 118,293,186 (GRCm39) T245A possibly damaging Het
Cfap99 C T 5: 34,480,774 (GRCm39) Q475* probably null Het
Chmp2b G A 16: 65,343,745 (GRCm39) T104I possibly damaging Het
Cimap1c A G 9: 56,759,822 (GRCm39) L16P unknown Het
Cln3 A T 7: 126,180,886 (GRCm39) Y52N probably damaging Het
Cpm A G 10: 117,519,340 (GRCm39) Y416C possibly damaging Het
Creb3l3 T C 10: 80,920,833 (GRCm39) D399G possibly damaging Het
Csnk2a1-ps3 A T 1: 156,352,707 (GRCm39) K303* probably null Het
Dbnl A G 11: 5,738,597 (GRCm39) Q13R probably benign Het
Dnah11 T A 12: 117,987,648 (GRCm39) Q2418L probably damaging Het
Echs1 A T 7: 139,692,378 (GRCm39) I123N probably damaging Het
Exd2 T C 12: 80,522,546 (GRCm39) S2P probably damaging Het
F2rl1 A G 13: 95,650,382 (GRCm39) F167L probably damaging Het
Fam83g C A 11: 61,575,584 (GRCm39) D75E possibly damaging Het
Fes T C 7: 80,030,615 (GRCm39) D558G probably damaging Het
Ggnbp2 A T 11: 84,730,803 (GRCm39) probably null Het
Gm10283 A T 8: 60,954,236 (GRCm39) probably null Het
Gm14410 T C 2: 176,885,527 (GRCm39) N246D probably benign Het
Gpr39 A T 1: 125,605,249 (GRCm39) Q59L probably damaging Het
Hic1 C T 11: 75,058,200 (GRCm39) A230T probably damaging Het
Hmcn1 A G 1: 150,598,196 (GRCm39) L1702P possibly damaging Het
Kif13a A T 13: 46,951,955 (GRCm39) Y773N probably benign Het
Lins1 A T 7: 66,363,853 (GRCm39) R583* probably null Het
Lrch4 T A 5: 137,638,025 (GRCm39) H102Q Het
Ltn1 T C 16: 87,208,681 (GRCm39) T806A probably benign Het
Mdfic T C 6: 15,728,055 (GRCm39) I25T unknown Het
Muc16 G T 9: 18,491,870 (GRCm39) T6727N probably damaging Het
Nalcn C A 14: 123,531,791 (GRCm39) G1353V probably damaging Het
Nalcn C G 14: 123,531,792 (GRCm39) G1353R probably damaging Het
Nbeal1 C T 1: 60,358,500 (GRCm39) P2476S probably benign Het
Nell2 T C 15: 95,330,550 (GRCm39) T233A probably damaging Het
Nobox G A 6: 43,281,125 (GRCm39) Q450* probably null Het
Nostrin T G 2: 68,991,466 (GRCm39) L153R possibly damaging Het
Nup160 T C 2: 90,533,456 (GRCm39) V635A probably benign Het
Opn4 T A 14: 34,320,809 (GRCm39) M84L probably benign Het
Or4f14 T A 2: 111,743,222 (GRCm39) T18S probably benign Het
Or4f53 T C 2: 111,087,519 (GRCm39) S20P possibly damaging Het
Or4k77 C T 2: 111,199,138 (GRCm39) H54Y probably benign Het
Or56a42-ps1 A G 7: 104,775,926 (GRCm39) I184T probably benign Het
Papolg T C 11: 23,841,884 (GRCm39) Q13R probably benign Het
Pax6 T G 2: 105,522,036 (GRCm39) F231C probably damaging Het
Pcdha3 T C 18: 37,079,347 (GRCm39) Y30H probably damaging Het
Pkhd1l1 A G 15: 44,393,280 (GRCm39) T1872A probably benign Het
Pln T C 10: 53,220,005 (GRCm39) S16P probably damaging Het
Ppp4r3a C T 12: 101,022,080 (GRCm39) E308K probably damaging Het
Prp2 C T 6: 132,577,306 (GRCm39) Q198* probably null Het
Ptpn20 T A 14: 33,344,509 (GRCm39) S144R probably benign Het
Pum3 A T 19: 27,404,492 (GRCm39) F10L probably benign Het
Rapgefl1 A T 11: 98,728,485 (GRCm39) D169V probably benign Het
Rbm12b1 T C 4: 12,146,460 (GRCm39) Y811H possibly damaging Het
Rcor1 T A 12: 111,076,297 (GRCm39) F418L Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,127 (GRCm39) probably benign Het
Samd11 T C 4: 156,332,282 (GRCm39) T520A probably benign Het
Scn3a T A 2: 65,359,798 (GRCm39) T137S possibly damaging Het
Sgo2b T C 8: 64,379,946 (GRCm39) N962S probably benign Het
Slc39a12 T A 2: 14,439,141 (GRCm39) I465N probably benign Het
Spcs1 T A 14: 30,723,607 (GRCm39) probably benign Het
Stard9 T C 2: 120,529,860 (GRCm39) V2039A probably benign Het
Syt11 G T 3: 88,669,778 (GRCm39) T38K possibly damaging Het
Tcf7l2 T A 19: 55,914,468 (GRCm39) C454S probably damaging Het
Tfap2a G C 13: 40,878,656 (GRCm39) H155D probably benign Het
Trim46 T C 3: 89,149,565 (GRCm39) K273R probably damaging Het
Trim60 A T 8: 65,453,964 (GRCm39) V95E possibly damaging Het
Ttc39d G A 17: 80,524,741 (GRCm39) A467T probably damaging Het
Ttn T C 2: 76,550,274 (GRCm39) T31636A probably benign Het
U2surp A G 9: 95,370,814 (GRCm39) V420A probably damaging Het
Vps26b T C 9: 26,940,826 (GRCm39) D31G probably benign Het
Vps35 T C 8: 86,010,707 (GRCm39) E212G possibly damaging Het
Zfp1010 T C 2: 176,957,310 (GRCm39) I63V possibly 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
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
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
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'- TGGGCATTGGGAGGATAATC -3'
(R):5'- TTACCATCTGGAATATGCTCAGGG -3'

Sequencing Primer
(F):5'- CATTGGGAGGATAATCAGGAGGTG -3'
(R):5'- AGGTTATGTGACTTACCCAAGC -3'
Posted On 2019-11-26