Incidental Mutation 'R9487:Lancl1'
ID 716633
Institutional Source Beutler Lab
Gene Symbol Lancl1
Ensembl Gene ENSMUSG00000026000
Gene Name LanC (bacterial lantibiotic synthetase component C)-like 1
Synonyms p40, Gpr69a, LanC-like protein 1
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R9487 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 67039676-67078031 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 67073381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 34 (H34P)
Ref Sequence ENSEMBL: ENSMUSP00000027149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027149] [ENSMUST00000113979] [ENSMUST00000119559] [ENSMUST00000149996]
AlphaFold O89112
Predicted Effect probably benign
Transcript: ENSMUST00000027149
AA Change: H34P

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000027149
Gene: ENSMUSG00000026000
AA Change: H34P

DomainStartEndE-ValueType
LANC_like 55 399 7.17e-144 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113979
AA Change: H34P

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109612
Gene: ENSMUSG00000026000
AA Change: H34P

DomainStartEndE-ValueType
LANC_like 55 399 7.17e-144 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119559
AA Change: H34P

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113080
Gene: ENSMUSG00000026000
AA Change: H34P

DomainStartEndE-ValueType
LANC_like 55 399 7.17e-144 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149996
AA Change: H34P

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000122752
Gene: ENSMUSG00000026000
AA Change: H34P

DomainStartEndE-ValueType
Pfam:LANC_like 55 173 2.3e-29 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a loosely associated peripheral membrane protein related to the LanC family of bacterial membrane-associated proteins involved in the biosynthesis of antimicrobial peptides. This protein may play a role as a peptide-modifying enzyme component in eukaryotic cells. Previously considered a member of the G-protein-coupled receptor superfamily, this protein is now in the LanC family. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008]
PHENOTYPE: Mice homozygous for a null mutation display postnatal neurodegeneration with increased oxidative stress and mitochondrial impairment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik C T 1: 53,221,665 (GRCm39) D55N possibly damaging Het
Abcc2 G A 19: 43,806,471 (GRCm39) G762S probably damaging Het
Acta2 C A 19: 34,225,865 (GRCm39) A110S probably damaging Het
Adam26a T C 8: 44,022,456 (GRCm39) T345A possibly damaging Het
Anapc11 T C 11: 120,496,250 (GRCm39) *85R probably null Het
Ang2 A C 14: 51,433,071 (GRCm39) C104G probably damaging Het
Ankzf1 G A 1: 75,174,596 (GRCm39) V529I probably benign Het
Aox4 G T 1: 58,288,097 (GRCm39) V737F probably benign Het
Aqr T C 2: 113,934,528 (GRCm39) N1371S probably benign Het
Bach1 T A 16: 87,526,733 (GRCm39) S732T probably benign Het
Bcr T A 10: 74,967,431 (GRCm39) I555N probably damaging Het
Bicra T C 7: 15,705,717 (GRCm39) T1575A probably damaging Het
Bop1 A G 15: 76,338,076 (GRCm39) L598P probably damaging Het
Cacna1d A T 14: 29,845,419 (GRCm39) F605L possibly damaging Het
Capn15 C T 17: 26,184,353 (GRCm39) V109I possibly damaging Het
Cdkn1b T C 6: 134,897,815 (GRCm39) probably benign Het
Dnah2 T C 11: 69,406,617 (GRCm39) T542A possibly damaging Het
Dsc2 A T 18: 20,180,276 (GRCm39) I159N probably damaging Het
Ecel1 A T 1: 87,075,716 (GRCm39) V774E probably damaging Het
Eif5b T G 1: 38,084,560 (GRCm39) C849W probably damaging Het
Eif5b T A 1: 38,058,451 (GRCm39) L251* probably null Het
Ext2 T C 2: 93,592,956 (GRCm39) D416G probably damaging Het
Fancm G A 12: 65,153,388 (GRCm39) W1281* probably null Het
Flvcr1 A T 1: 190,743,829 (GRCm39) I409K possibly damaging Het
Foxk1 T C 5: 142,437,389 (GRCm39) probably null Het
Frem2 T A 3: 53,560,905 (GRCm39) I1201F possibly damaging Het
Gabra5 A G 7: 57,157,873 (GRCm39) probably benign Het
Gmpr2 G A 14: 55,915,778 (GRCm39) V319I probably damaging Het
Gna12 A T 5: 140,746,338 (GRCm39) L369Q probably damaging Het
Gpr160 A G 3: 30,950,914 (GRCm39) R329G probably benign Het
H2-M10.3 T C 17: 36,677,423 (GRCm39) H285R probably benign Het
H2-M2 A T 17: 37,793,424 (GRCm39) V194E probably benign Het
Hephl1 G A 9: 14,995,830 (GRCm39) R431W possibly damaging Het
Hr A G 14: 70,793,877 (GRCm39) T46A probably benign Het
Hr A G 14: 70,794,205 (GRCm39) H126R possibly damaging Het
Hsf1 T G 15: 76,382,398 (GRCm39) D256E probably benign Het
Ifi208 C T 1: 173,510,961 (GRCm39) T372I probably damaging Het
Ifi47 T G 11: 48,986,620 (GRCm39) F129C probably damaging Het
Il1rl2 CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT 1: 40,366,470 (GRCm39) probably benign Het
Irag2 A G 6: 145,120,257 (GRCm39) I491V probably benign Het
Itga11 A T 9: 62,670,171 (GRCm39) N765I probably benign Het
Klhl22 T A 16: 17,589,663 (GRCm39) I108K probably benign Het
Lcor C A 19: 41,573,685 (GRCm39) N813K probably damaging Het
Mbd3l1 G A 9: 18,396,274 (GRCm39) G133D probably benign Het
Med12l T C 3: 59,155,353 (GRCm39) F1178L probably benign Het
Mrm1 A T 11: 84,705,531 (GRCm39) N289K probably damaging Het
Myf6 A G 10: 107,330,073 (GRCm39) Y165H probably benign Het
Myo1g C A 11: 6,456,913 (GRCm39) C971F probably benign Het
Myo3a T C 2: 22,245,862 (GRCm39) M3T probably benign Het
Nsrp1 G A 11: 76,937,114 (GRCm39) R361* probably null Het
Or10d4 A C 9: 39,580,611 (GRCm39) Q86P possibly damaging Het
Or10h1b C A 17: 33,395,548 (GRCm39) H57Q possibly damaging Het
Or4a69 T C 2: 89,312,756 (GRCm39) H241R probably damaging Het
Or4a77 T C 2: 89,487,731 (GRCm39) D18G probably damaging Het
Or5p6 A T 7: 107,631,163 (GRCm39) I129N possibly damaging Het
Or8b41 G A 9: 38,054,866 (GRCm39) C140Y probably benign Het
Or8k53 T A 2: 86,177,846 (GRCm39) D88V probably benign Het
Oscar T G 7: 3,614,663 (GRCm39) Y103S probably damaging Het
Pdpr A G 8: 111,852,925 (GRCm39) N610S probably benign Het
Ppp4r3b T C 11: 29,124,697 (GRCm39) I56T probably damaging Het
Pxdn T A 12: 30,044,552 (GRCm39) V510D possibly damaging Het
Rab11fip5 T C 6: 85,324,913 (GRCm39) S465G possibly damaging Het
Rasgrf2 T C 13: 92,267,759 (GRCm39) T82A probably benign Het
Scmh1 G A 4: 120,320,284 (GRCm39) W30* probably null Het
Sema4g T C 19: 44,981,071 (GRCm39) Y40H probably benign Het
Serpinf2 A T 11: 75,323,494 (GRCm39) M404K probably damaging Het
Sgk3 T C 1: 9,950,616 (GRCm39) probably null Het
Slc16a5 A T 11: 115,360,738 (GRCm39) Y307F possibly damaging Het
Slc39a5 G A 10: 128,233,628 (GRCm39) L290F probably damaging Het
Snx32 A C 19: 5,547,736 (GRCm39) D191E probably damaging Het
Sp4 T C 12: 118,262,859 (GRCm39) I396V probably benign Het
Srrd A G 5: 112,490,765 (GRCm39) V42A unknown Het
Stim1 A G 7: 102,080,257 (GRCm39) H547R unknown Het
Svep1 G A 4: 58,070,517 (GRCm39) A2423V probably benign Het
Tep1 A G 14: 51,066,687 (GRCm39) S2304P possibly damaging Het
Tkt C G 14: 30,281,795 (GRCm39) S104R probably benign Het
Tkt T C 14: 30,281,796 (GRCm39) S105P probably damaging Het
Tln1 A T 4: 43,542,893 (GRCm39) N1365K probably damaging Het
Topaz1 G T 9: 122,604,707 (GRCm39) A1104S probably benign Het
Trmt2a A G 16: 18,068,814 (GRCm39) H270R probably damaging Het
Ttll10 G T 4: 156,127,616 (GRCm39) T389K probably benign Het
Tubal3 A G 13: 3,980,674 (GRCm39) I129V probably benign Het
Ucp3 A G 7: 100,131,123 (GRCm39) E192G probably damaging Het
Usp47 A G 7: 111,677,063 (GRCm39) D448G probably damaging Het
Vmn2r98 T A 17: 19,301,496 (GRCm39) L833M possibly damaging Het
Vps13d A G 4: 144,807,869 (GRCm39) probably null Het
Wdr7 A G 18: 63,910,939 (GRCm39) D777G possibly damaging Het
Zcchc8 A G 5: 123,847,300 (GRCm39) I213T probably damaging Het
Zfp281 T C 1: 136,555,143 (GRCm39) I707T probably damaging Het
Zfp335 T C 2: 164,735,395 (GRCm39) H1158R probably damaging Het
Zfp692 C T 11: 58,199,765 (GRCm39) T118M probably damaging Het
Zfr2 T A 10: 81,075,969 (GRCm39) L192Q probably benign Het
Other mutations in Lancl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00852:Lancl1 APN 1 67,043,996 (GRCm39) missense probably damaging 1.00
IGL01727:Lancl1 APN 1 67,060,101 (GRCm39) missense probably damaging 1.00
IGL01800:Lancl1 APN 1 67,060,029 (GRCm39) missense probably benign 0.08
IGL03036:Lancl1 APN 1 67,046,074 (GRCm39) missense probably damaging 1.00
IGL03329:Lancl1 APN 1 67,060,209 (GRCm39) missense probably damaging 1.00
R0535:Lancl1 UTSW 1 67,049,065 (GRCm39) unclassified probably benign
R0731:Lancl1 UTSW 1 67,049,069 (GRCm39) critical splice donor site probably null
R3798:Lancl1 UTSW 1 67,073,303 (GRCm39) missense probably damaging 1.00
R4405:Lancl1 UTSW 1 67,060,015 (GRCm39) critical splice donor site probably null
R4933:Lancl1 UTSW 1 67,060,193 (GRCm39) missense probably benign 0.08
R4980:Lancl1 UTSW 1 67,043,968 (GRCm39) missense probably benign 0.17
R5193:Lancl1 UTSW 1 67,060,173 (GRCm39) missense probably benign 0.02
R6643:Lancl1 UTSW 1 67,043,542 (GRCm39) missense probably benign 0.07
R7235:Lancl1 UTSW 1 67,077,694 (GRCm39) missense probably benign 0.00
R7250:Lancl1 UTSW 1 67,048,458 (GRCm39) missense possibly damaging 0.54
R8854:Lancl1 UTSW 1 67,073,358 (GRCm39) missense possibly damaging 0.86
R9105:Lancl1 UTSW 1 67,043,962 (GRCm39) missense possibly damaging 0.74
R9323:Lancl1 UTSW 1 67,077,794 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- TCACAGTTCTGGAAAGGTCC -3'
(R):5'- ACTCTCCACTTCCAGGAAGG -3'

Sequencing Primer
(F):5'- TTCTGGAAAGGTCCTGCCCTG -3'
(R):5'- ATTTCCAGCACTTAGGAGGC -3'
Posted On 2022-07-18