Incidental Mutation 'IGL01886:Lrrc69'
ID 179151
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc69
Ensembl Gene ENSMUSG00000023151
Gene Name leucine rich repeat containing 69
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock # IGL01886
Quality Score
Status
Chromosome 4
Chromosomal Location 14623620-14796060 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 14703984 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 279 (V279I)
Ref Sequence ENSEMBL: ENSMUSP00000103911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023917] [ENSMUST00000108276]
AlphaFold Q9D9Q0
Predicted Effect probably benign
Transcript: ENSMUST00000023917
AA Change: V279I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000023917
Gene: ENSMUSG00000023151
AA Change: V279I

DomainStartEndE-ValueType
LRR 36 58 4.57e0 SMART
LRR 59 81 2.82e0 SMART
LRR 82 105 7.55e-1 SMART
LRR 106 128 7.79e0 SMART
LRR 129 151 1.99e0 SMART
LRR 152 174 5.72e0 SMART
LRR 175 197 3.86e0 SMART
LRR 198 220 8.24e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108276
AA Change: V279I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000103911
Gene: ENSMUSG00000023151
AA Change: V279I

DomainStartEndE-ValueType
LRR 36 58 4.57e0 SMART
LRR 59 81 2.82e0 SMART
LRR 82 105 7.55e-1 SMART
LRR 106 128 7.79e0 SMART
LRR 129 151 1.99e0 SMART
LRR 152 174 5.72e0 SMART
LRR 175 197 3.86e0 SMART
LRR 198 220 8.24e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143565
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt1 C T 12: 112,659,158 V136M probably benign Het
Ankrd34c A T 9: 89,730,265 L8M possibly damaging Het
Anks6 C A 4: 47,044,850 W352L probably damaging Het
Arhgap12 A T 18: 6,027,613 N768K probably damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Clec7a A T 6: 129,463,177 probably benign Het
Cyp3a13 G A 5: 137,898,820 P411S probably damaging Het
Elavl2 A G 4: 91,264,093 V129A probably damaging Het
Ercc6 T A 14: 32,569,580 S994T possibly damaging Het
Esco1 T A 18: 10,595,262 K8I probably damaging Het
Esr1 T A 10: 4,856,861 I259K probably damaging Het
Filip1l A G 16: 57,571,250 I734V possibly damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Grin3a T A 4: 49,702,814 I891F probably damaging Het
Kat7 T C 11: 95,306,133 T27A probably benign Het
Kdm1a A G 4: 136,561,016 probably null Het
Kifc5b T C 17: 26,932,117 V663A probably damaging Het
Lama1 T G 17: 67,807,797 S2314A probably benign Het
Mast3 A T 8: 70,782,139 L774Q possibly damaging Het
Med27 C A 2: 29,413,482 P9Q probably damaging Het
Myo5a C A 9: 75,169,090 probably benign Het
Myoz1 T C 14: 20,655,309 K14E probably damaging Het
Neb T C 2: 52,183,845 probably benign Het
Nlrp1a T C 11: 71,123,501 T308A probably benign Het
Olfr364-ps1 A G 2: 37,146,509 Y99C probably damaging Het
Olfr926 G T 9: 38,877,548 C124F probably damaging Het
Orc1 T A 4: 108,603,957 probably null Het
Pnkp G A 7: 44,862,207 A76T probably damaging Het
Polr3h T C 15: 81,917,390 E95G probably damaging Het
Prpf40b T A 15: 99,304,447 M62K unknown Het
Prpf8 C A 11: 75,495,744 Q1075K probably benign Het
Ptprg A G 14: 12,179,280 K766E probably benign Het
Rabgap1l A T 1: 160,342,042 N778K probably damaging Het
Riok3 T A 18: 12,139,385 N204K probably damaging Het
Shank3 A G 15: 89,531,663 K650E probably damaging Het
Sim1 T A 10: 50,984,315 S758T probably damaging Het
Slu7 T G 11: 43,439,260 N171K probably damaging Het
Sult6b2 A G 6: 142,790,126 probably null Het
Taf6l C T 19: 8,778,086 probably null Het
Ubtfl1 G A 9: 18,409,721 V182M possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Lrrc69
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01300:Lrrc69 APN 4 14773663 splice site probably benign
IGL03084:Lrrc69 APN 4 14708631 missense probably damaging 1.00
R0588:Lrrc69 UTSW 4 14704001 missense possibly damaging 0.71
R1664:Lrrc69 UTSW 4 14775079 missense probably damaging 1.00
R1956:Lrrc69 UTSW 4 14665986 missense possibly damaging 0.50
R1984:Lrrc69 UTSW 4 14708669 missense possibly damaging 0.93
R1985:Lrrc69 UTSW 4 14708669 missense possibly damaging 0.93
R1986:Lrrc69 UTSW 4 14708669 missense possibly damaging 0.93
R2229:Lrrc69 UTSW 4 14773694 missense probably benign 0.00
R3691:Lrrc69 UTSW 4 14795980 missense possibly damaging 0.94
R5691:Lrrc69 UTSW 4 14769648 missense probably damaging 1.00
R5882:Lrrc69 UTSW 4 14708690 missense probably damaging 1.00
R6113:Lrrc69 UTSW 4 14708673 missense probably benign 0.00
R7228:Lrrc69 UTSW 4 14775027 missense probably damaging 1.00
R7880:Lrrc69 UTSW 4 14703946 missense possibly damaging 0.90
R8047:Lrrc69 UTSW 4 14773726 missense probably benign 0.07
R8375:Lrrc69 UTSW 4 14795994 missense probably benign 0.36
R8547:Lrrc69 UTSW 4 14704014 missense probably benign 0.00
R9332:Lrrc69 UTSW 4 14774987 missense probably damaging 1.00
Posted On 2014-05-07