Incidental Mutation 'IGL02936:Llcfc1'
ID 364330
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Llcfc1
Ensembl Gene ENSMUSG00000029867
Gene Name LLLL and CFNLAS motif containing 1
Synonyms 1700034O15Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL02936
Quality Score
Status
Chromosome 6
Chromosomal Location 41661365-41662651 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 41661593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 48 (S48T)
Ref Sequence ENSEMBL: ENSMUSP00000031900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031899] [ENSMUST00000031900] [ENSMUST00000031901] [ENSMUST00000193503] [ENSMUST00000194597]
AlphaFold Q9D9P8
Predicted Effect probably benign
Transcript: ENSMUST00000031899
SMART Domains Protein: ENSMUSP00000031899
Gene: ENSMUSG00000029866

DomainStartEndE-ValueType
transmembrane domain 28 50 N/A INTRINSIC
Pfam:Peptidase_M13_N 81 463 1.5e-68 PFAM
Pfam:Peptidase_M13 521 712 2.1e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000031900
AA Change: S48T

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000031900
Gene: ENSMUSG00000029867
AA Change: S48T

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:DUF4717 37 107 7.8e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000031901
SMART Domains Protein: ENSMUSP00000031901
Gene: ENSMUSG00000036899

DomainStartEndE-ValueType
Blast:ANK 38 68 1e-7 BLAST
ANK 72 102 2.3e0 SMART
ANK 110 139 4.56e-4 SMART
ANK 156 185 1.85e-4 SMART
Blast:ANK 189 217 3e-10 BLAST
ANK 232 261 3.07e2 SMART
Pfam:Ion_trans 321 583 1.8e-19 PFAM
low complexity region 676 691 N/A INTRINSIC
low complexity region 708 719 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141502
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153760
Predicted Effect probably benign
Transcript: ENSMUST00000192118
Predicted Effect probably benign
Transcript: ENSMUST00000193503
SMART Domains Protein: ENSMUSP00000141421
Gene: ENSMUSG00000036899

DomainStartEndE-ValueType
Blast:ANK 38 68 1e-7 BLAST
ANK 72 102 1.5e-2 SMART
ANK 110 139 2.8e-6 SMART
ANK 156 185 1.2e-6 SMART
Blast:ANK 189 217 4e-10 BLAST
transmembrane domain 274 296 N/A INTRINSIC
Pfam:Ion_trans 335 522 2.7e-12 PFAM
low complexity region 627 642 N/A INTRINSIC
low complexity region 659 670 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194597
SMART Domains Protein: ENSMUSP00000142058
Gene: ENSMUSG00000029866

DomainStartEndE-ValueType
Pfam:Peptidase_M13 16 68 3.6e-10 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik G A 9: 57,165,687 (GRCm39) T229I possibly damaging Het
Acad11 T C 9: 103,990,711 (GRCm39) S439P probably benign Het
Acer2 A T 4: 86,818,796 (GRCm39) N148I possibly damaging Het
Adgre1 A G 17: 57,785,833 (GRCm39) I860V probably benign Het
Asb2 A G 12: 103,302,173 (GRCm39) I125T probably benign Het
Atp13a2 G T 4: 140,729,260 (GRCm39) L614F probably benign Het
Car7 A G 8: 105,274,854 (GRCm39) T132A possibly damaging Het
Cfap221 T C 1: 119,912,482 (GRCm39) D135G probably damaging Het
Crtc3 A G 7: 80,239,511 (GRCm39) F614L probably damaging Het
Csn3 T G 5: 88,077,992 (GRCm39) I166S possibly damaging Het
Dna2 T G 10: 62,792,879 (GRCm39) L298R probably damaging Het
Ece1 T C 4: 137,673,612 (GRCm39) S387P probably benign Het
Fbxo28 C T 1: 182,169,093 (GRCm39) G15D unknown Het
Fbxw24 A T 9: 109,454,026 (GRCm39) probably null Het
Foxd3 T A 4: 99,545,052 (GRCm39) V64E probably benign Het
Galnt7 A C 8: 58,037,248 (GRCm39) V47G probably benign Het
Gcc2 A T 10: 58,131,962 (GRCm39) L1453F probably damaging Het
Gcnt4 G A 13: 97,082,919 (GRCm39) V72I probably benign Het
Gm10269 A C 18: 20,816,010 (GRCm39) probably null Het
Hmcn1 T G 1: 150,573,273 (GRCm39) Q2125H probably damaging Het
Iho1 T C 9: 108,289,702 (GRCm39) I173M possibly damaging Het
Met G T 6: 17,553,396 (GRCm39) V1061F probably damaging Het
Mthfd2 G A 6: 83,288,342 (GRCm39) H138Y probably damaging Het
Mtus1 A T 8: 41,452,554 (GRCm39) D1041E possibly damaging Het
Mug2 G A 6: 122,058,346 (GRCm39) probably null Het
Nos3 C T 5: 24,585,991 (GRCm39) T878I probably damaging Het
Or4c15 A G 2: 88,760,128 (GRCm39) M177T probably benign Het
Or52b1 A T 7: 104,979,212 (GRCm39) Y62* probably null Het
Pbrm1 T A 14: 30,783,470 (GRCm39) V497D probably damaging Het
Plcd1 T C 9: 118,903,267 (GRCm39) E471G probably damaging Het
Poc1a A G 9: 106,162,226 (GRCm39) T84A probably damaging Het
Ppm1f A G 16: 16,733,100 (GRCm39) H209R probably damaging Het
Rccd1 T A 7: 79,966,794 (GRCm39) K329N probably damaging Het
Serpinb9g A T 13: 33,678,865 (GRCm39) N245I possibly damaging Het
Slc22a26 A C 19: 7,768,470 (GRCm39) F196V probably damaging Het
Tial1 G A 7: 128,044,387 (GRCm39) probably benign Het
Trpa1 A T 1: 14,946,193 (GRCm39) probably null Het
Vmn1r15 A T 6: 57,235,803 (GRCm39) K224* probably null Het
Wdr72 A T 9: 74,059,862 (GRCm39) D424V probably damaging Het
Wt1 A G 2: 104,999,384 (GRCm39) K308E probably damaging Het
Zwint T C 10: 72,492,956 (GRCm39) S193P probably damaging Het
Other mutations in Llcfc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01629:Llcfc1 APN 6 41,661,459 (GRCm39) missense possibly damaging 0.95
Emaciated UTSW 6 41,661,537 (GRCm39) missense probably damaging 0.98
gaunt UTSW 6 41,662,310 (GRCm39) missense probably benign
R1482:Llcfc1 UTSW 6 41,662,218 (GRCm39) missense probably damaging 1.00
R2148:Llcfc1 UTSW 6 41,662,155 (GRCm39) missense possibly damaging 0.79
R2888:Llcfc1 UTSW 6 41,661,537 (GRCm39) missense probably damaging 0.98
R5053:Llcfc1 UTSW 6 41,662,269 (GRCm39) missense possibly damaging 0.93
R5106:Llcfc1 UTSW 6 41,662,310 (GRCm39) missense probably benign
R7149:Llcfc1 UTSW 6 41,662,251 (GRCm39) missense possibly damaging 0.88
R8909:Llcfc1 UTSW 6 41,661,525 (GRCm39) missense probably benign 0.12
Posted On 2015-12-18