Incidental Mutation 'R8558:Lcn6'
ID 660823
Institutional Source Beutler Lab
Gene Symbol Lcn6
Ensembl Gene ENSMUSG00000045684
Gene Name lipocalin 6
Synonyms
MMRRC Submission 068521-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R8558 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 25676786-25681608 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 25680706 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Tyrosine at position 102 (S102Y)
Ref Sequence ENSEMBL: ENSMUSP00000109837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058912] [ENSMUST00000059693] [ENSMUST00000114197] [ENSMUST00000114199]
AlphaFold A2AJB9
Predicted Effect probably benign
Transcript: ENSMUST00000058912
SMART Domains Protein: ENSMUSP00000059353
Gene: ENSMUSG00000047356

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Lipocalin 36 169 1.6e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000059693
AA Change: S36Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000055660
Gene: ENSMUSG00000045684
AA Change: S36Y

DomainStartEndE-ValueType
Pfam:Lipocalin 7 106 1.4e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114197
AA Change: S36Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109835
Gene: ENSMUSG00000045684
AA Change: S36Y

DomainStartEndE-ValueType
Pfam:Lipocalin 7 106 4.8e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114199
AA Change: S102Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000109837
Gene: ENSMUSG00000045684
AA Change: S102Y

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Lipocalin 33 172 2.6e-12 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice with loss of expression in the testes show premature acrosome reaction and elevated intracellular calcium levels in sperm. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A T 10: 100,594,635 R51S probably benign Het
1700067P10Rik G T 17: 48,090,329 E45* probably null Het
4932438A13Rik T A 3: 37,048,601 M1443K Het
Abcb5 T C 12: 118,877,831 T960A probably benign Het
Abcc3 A G 11: 94,351,797 probably null Het
Adamtsl3 A T 7: 82,428,392 D95V possibly damaging Het
Ash1l T A 3: 88,984,406 S1197R probably damaging Het
BC034090 T A 1: 155,221,339 H671L possibly damaging Het
Btnl9 T C 11: 49,180,792 E68G probably benign Het
C1qtnf1 A T 11: 118,448,323 Y273F probably damaging Het
C4b A T 17: 34,736,567 C714S probably damaging Het
Carmil1 G A 13: 24,025,880 T1204I probably benign Het
Ccdc105 T C 10: 78,747,201 K450E probably damaging Het
Cdk12 T C 11: 98,211,089 L591P unknown Het
Ces2f T A 8: 104,953,126 L417* probably null Het
Chl1 T A 6: 103,708,429 S810R probably benign Het
Ckap2 A G 8: 22,168,795 V644A possibly damaging Het
Ctdsp2 T A 10: 126,993,877 V126E probably damaging Het
Dok6 G T 18: 89,473,942 H170Q probably damaging Het
Dynlrb1 T C 2: 155,242,808 probably null Het
Eif5b T C 1: 38,044,714 L757S probably damaging Het
Epas1 A C 17: 86,809,468 T189P possibly damaging Het
Epha10 C A 4: 124,894,984 N283K Het
Epha5 C A 5: 84,059,116 G853C probably damaging Het
Gapvd1 A T 2: 34,704,481 H831Q probably damaging Het
Gcnt3 T A 9: 70,034,714 K191* probably null Het
Gm14226 T A 2: 155,024,989 S289T probably benign Het
Gm4846 T A 1: 166,487,105 D323V probably damaging Het
Golga3 G T 5: 110,208,555 R1036L possibly damaging Het
Gopc T C 10: 52,353,484 Q213R probably damaging Het
Hrh1 G A 6: 114,480,603 V282M probably benign Het
Ighv5-4 T C 12: 113,597,458 Y114C probably damaging Het
Igkv10-94 A T 6: 68,704,652 I68N probably damaging Het
Kcnj3 A G 2: 55,446,863 D247G possibly damaging Het
Matk C A 10: 81,260,931 H232N probably benign Het
Mcm9 C T 10: 53,615,972 V366I probably benign Het
Mgea5 T C 19: 45,758,072 S763G probably benign Het
Nadk A G 4: 155,585,387 I176V probably benign Het
Nlrp12 A G 7: 3,249,481 L20P probably damaging Het
Olfr1118 A T 2: 87,309,239 Q170L probably benign Het
Olfr1245 A G 2: 89,574,985 L247P probably damaging Het
Olfr380 G A 11: 73,453,483 S243F probably damaging Het
Park2 T C 17: 11,237,585 S99P probably benign Het
Pcdhgb6 T A 18: 37,744,184 D648E probably damaging Het
Pkd1l3 A T 8: 109,635,380 N1018I probably damaging Het
Plch2 T C 4: 154,998,934 K516E probably damaging Het
Pmpca G C 2: 26,395,034 E424Q possibly damaging Het
Pnma2 C T 14: 66,916,523 A132V probably benign Het
Prune2 A G 19: 17,122,238 E1702G probably damaging Het
Qars T A 9: 108,515,223 H756Q probably benign Het
Rab5a A G 17: 53,483,849 probably benign Het
Rars2 A G 4: 34,657,199 D515G probably damaging Het
Rpe65 T A 3: 159,614,792 C329S probably damaging Het
Rps6ka2 G A 17: 7,255,917 V231M possibly damaging Het
Rsf1 GCG GCGACGGCGCCG 7: 97,579,907 probably benign Het
Scrt1 G T 15: 76,519,643 S49* probably null Het
Sec23b C G 2: 144,586,388 D640E possibly damaging Het
Setdb1 C T 3: 95,354,668 V96M possibly damaging Het
Sik3 C A 9: 46,155,448 A175E probably damaging Het
Smarcad1 A G 6: 65,083,924 K463E probably benign Het
Sobp A C 10: 43,127,892 C154G probably damaging Het
Sox6 A G 7: 115,541,798 S482P probably benign Het
Spen C T 4: 141,470,370 A3396T probably benign Het
Spink11 T A 18: 44,191,681 R75* probably null Het
Sptb T C 12: 76,612,787 H1113R probably benign Het
Sypl2 A T 3: 108,217,688 V119E probably damaging Het
Tbc1d24 T C 17: 24,208,929 S20G unknown Het
Top2a A T 11: 99,021,723 V106D probably damaging Het
Tspyl4 G C 10: 34,298,265 R251P probably damaging Het
Ttc21a T A 9: 119,958,769 L801Q probably damaging Het
Vgll3 A G 16: 65,827,958 E64G probably damaging Het
Vmn2r30 A G 7: 7,312,656 I726T possibly damaging Het
Vmn2r81 T C 10: 79,270,633 S482P possibly damaging Het
Wasf1 T G 10: 40,930,652 M97R possibly damaging Het
Wdr33 T A 18: 31,829,894 M98K probably benign Het
Wdr73 G A 7: 80,898,506 T95I probably damaging Het
Other mutations in Lcn6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01086:Lcn6 APN 2 25680780 missense probably benign 0.29
R0747:Lcn6 UTSW 2 25677172 missense probably damaging 1.00
R1387:Lcn6 UTSW 2 25677137 missense possibly damaging 0.86
R1500:Lcn6 UTSW 2 25677119 missense probably benign 0.00
R1654:Lcn6 UTSW 2 25680775 splice site probably null
R3005:Lcn6 UTSW 2 25677249 splice site probably null
R4821:Lcn6 UTSW 2 25680810 missense probably damaging 1.00
R4972:Lcn6 UTSW 2 25680067 missense probably damaging 1.00
R5011:Lcn6 UTSW 2 25677070 splice site probably null
R5013:Lcn6 UTSW 2 25677070 splice site probably null
R7779:Lcn6 UTSW 2 25680793 missense probably benign
R8034:Lcn6 UTSW 2 25676871 nonsense probably null
R8697:Lcn6 UTSW 2 25677154 missense probably benign 0.01
R9227:Lcn6 UTSW 2 25680095 missense probably damaging 1.00
R9312:Lcn6 UTSW 2 25680062 missense probably benign 0.23
R9740:Lcn6 UTSW 2 25681179 missense probably benign 0.00
R9749:Lcn6 UTSW 2 25680022 start codon destroyed probably benign
Predicted Primers PCR Primer
(F):5'- CTTGCTGGCACAATGTAGGG -3'
(R):5'- TGAATAGCTGCATGGCTTCG -3'

Sequencing Primer
(F):5'- ACCCCAGTTTTACACCTG -3'
(R):5'- CCAGAGTGTGGCTGTGATCC -3'
Posted On 2021-03-08