Incidental Mutation 'R9420:Luc7l2'
ID 712270
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.317) question?
Stock # R9420 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 38528269-38586405 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38547489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 36 (C36R)
Ref Sequence ENSEMBL: ENSMUSP00000055254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057692] [ENSMUST00000159936] [ENSMUST00000160511] [ENSMUST00000161227] [ENSMUST00000161538] [ENSMUST00000162386] [ENSMUST00000163047]
AlphaFold Q7TNC4
Predicted Effect probably damaging
Transcript: ENSMUST00000057692
AA Change: C36R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055254
Gene: ENSMUSG00000029823
AA Change: C36R

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 silent
Transcript: ENSMUST00000159936
Predicted Effect silent
Transcript: ENSMUST00000160511
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 damaging
Transcript: ENSMUST00000161538
AA Change: C36R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124010
Gene: ENSMUSG00000029823
AA Change: C36R

DomainStartEndE-ValueType
Pfam:LUC7 4 309 3.3e-93 PFAM
Predicted Effect silent
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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 119,912,277 (GRCm39) I56T probably benign Het
Adissp T C 2: 130,993,682 (GRCm39) probably null Het
Akr1c12 A G 13: 4,325,796 (GRCm39) L99S probably damaging Het
Azin1 C A 15: 38,493,871 (GRCm39) V251F possibly damaging Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
C2cd3 A T 7: 100,065,262 (GRCm39) M305L Het
Casz1 A G 4: 149,023,320 (GRCm39) T742A probably damaging Het
Cbfa2t2 A G 2: 154,352,426 (GRCm39) probably null Het
Clec2e T A 6: 129,071,420 (GRCm39) Y139F possibly damaging Het
Crisp2 T A 17: 41,094,724 (GRCm39) N117I possibly damaging Het
Ddx52 A T 11: 83,833,008 (GRCm39) D2V probably damaging Het
Dmpk T A 7: 18,824,946 (GRCm39) V442E probably benign Het
Dnah2 A T 11: 69,368,942 (GRCm39) M1654K probably benign Het
Eln AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC 5: 134,739,935 (GRCm39) probably benign Het
Erlec1 A G 11: 30,885,054 (GRCm39) V411A probably damaging Het
Fktn G A 4: 53,734,854 (GRCm39) G125D probably benign Het
Fry A G 5: 150,356,994 (GRCm39) E1847G possibly damaging Het
Gck A G 11: 5,899,553 (GRCm39) probably null Het
Gga2 T C 7: 121,603,195 (GRCm39) D167G probably damaging Het
Gprc6a A G 10: 51,491,506 (GRCm39) S748P probably damaging Het
H2-M10.2 T C 17: 36,595,643 (GRCm39) R216G probably benign Het
H2-M2 T A 17: 37,792,215 (GRCm39) I312F probably benign Het
Havcr2 A T 11: 46,347,350 (GRCm39) Y109F probably damaging Het
Hoga1 T C 19: 42,048,333 (GRCm39) V67A Het
Ift70b T A 2: 75,768,391 (GRCm39) I121F possibly damaging Het
Kcnk12 C A 17: 88,104,507 (GRCm39) V126L possibly damaging Het
Klc1 A G 12: 111,738,950 (GRCm39) E66G probably damaging Het
Klhl2 A T 8: 65,205,870 (GRCm39) Y350* probably null Het
Letm1 T C 5: 33,926,802 (GRCm39) H165R probably damaging Het
Mab21l1 A G 3: 55,690,674 (GRCm39) N87S probably damaging Het
Mdn1 A G 4: 32,678,414 (GRCm39) T681A probably damaging Het
Mrc1 C T 2: 14,312,790 (GRCm39) T904I possibly damaging Het
Mrpl38 A G 11: 116,023,276 (GRCm39) S326P probably damaging Het
Mtr T G 13: 12,268,764 (GRCm39) K32N probably benign Het
Mybpc3 T A 2: 90,965,478 (GRCm39) C1128* probably null Het
Ncdn T C 4: 126,645,762 (GRCm39) D49G probably damaging Het
Nfkbiz G A 16: 55,642,337 (GRCm39) T27I probably damaging Het
Npnt A T 3: 132,653,866 (GRCm39) Y38* probably null Het
Nrxn2 A G 19: 6,581,931 (GRCm39) E1622G probably benign Het
Nutm2 T C 13: 50,626,964 (GRCm39) I373T probably damaging Het
Or4c58 T C 2: 89,674,715 (GRCm39) I201V probably benign Het
Or51m1 T C 7: 103,578,980 (GRCm39) S317P possibly damaging Het
Osbp2 A G 11: 3,662,170 (GRCm39) S228P probably damaging Het
Pbx3 C T 2: 34,103,348 (GRCm39) R208Q probably damaging Het
Pcdhgb5 T C 18: 37,864,838 (GRCm39) V211A probably benign Het
Pi16 C T 17: 29,544,899 (GRCm39) T151M probably damaging Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Ptpro T C 6: 137,420,933 (GRCm39) I1068T probably benign Het
Rbl1 A T 2: 157,035,154 (GRCm39) Y309N probably damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,134 (GRCm39) probably benign Het
Serpina3g G C 12: 104,206,518 (GRCm39) E106D probably benign Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Son G C 16: 91,454,508 (GRCm39) R1085P probably damaging Het
Tasor A T 14: 27,163,927 (GRCm39) I238F probably damaging Het
Tbx18 C A 9: 87,612,675 (GRCm39) A75S probably benign Het
Tmem232 C A 17: 65,792,881 (GRCm39) Q105H probably damaging Het
Ttc29 A G 8: 79,060,390 (GRCm39) I437V probably benign Het
Ttn T A 2: 76,621,887 (GRCm39) I15552L probably damaging Het
Ttn T A 2: 76,750,313 (GRCm39) T3579S probably benign Het
Vps11 A G 9: 44,267,719 (GRCm39) F298L probably benign Het
Wbp11 T C 6: 136,791,259 (GRCm39) T625A unknown Het
Xylb T A 9: 119,215,428 (GRCm39) N460K probably damaging Het
Znrf4 C A 17: 56,819,218 (GRCm39) V30F 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
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
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
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'- GCAACTGCATGCTGTCTAAAATAG -3'
(R):5'- CCATGTACAAACAATAGTCCTGTG -3'

Sequencing Primer
(F):5'- GGGTGGTTTATAAGAAACTAATCCC -3'
(R):5'- ATAGTCCTGTGTACTAGTTGATCCAC -3'
Posted On 2022-05-16