Incidental Mutation 'IGL01633:Lrrc73'
ID 93650
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc73
Ensembl Gene ENSMUSG00000071073
Gene Name leucine rich repeat containing 73
Synonyms LOC224813, Gm88
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.490) question?
Stock # IGL01633
Quality Score
Status
Chromosome 17
Chromosomal Location 46564896-46568242 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 46566657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 169 (V169E)
Ref Sequence ENSEMBL: ENSMUSP00000092896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012440] [ENSMUST00000095262] [ENSMUST00000095263] [ENSMUST00000123311] [ENSMUST00000164342] [ENSMUST00000225080] [ENSMUST00000225413] [ENSMUST00000180283]
AlphaFold B2RWC4
Predicted Effect probably benign
Transcript: ENSMUST00000012440
SMART Domains Protein: ENSMUSP00000012440
Gene: ENSMUSG00000012296

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
SCOP:d1fxkc_ 28 158 6e-3 SMART
low complexity region 204 215 N/A INTRINSIC
Pfam:Pilt 256 450 3.7e-83 PFAM
Pfam:Pilt 441 538 5.4e-31 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000095262
AA Change: V169E

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000092896
Gene: ENSMUSG00000071073
AA Change: V169E

DomainStartEndE-ValueType
LRR 27 54 2.42e1 SMART
LRR 84 111 3.47e1 SMART
LRR 112 139 1.84e0 SMART
LRR 143 171 1.66e2 SMART
LRR 172 199 5.41e0 SMART
LRR 200 227 3.54e0 SMART
LRR 229 256 5.48e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095263
SMART Domains Protein: ENSMUSP00000092897
Gene: ENSMUSG00000071074

DomainStartEndE-ValueType
low complexity region 59 75 N/A INTRINSIC
transmembrane domain 146 168 N/A INTRINSIC
transmembrane domain 183 205 N/A INTRINSIC
transmembrane domain 212 234 N/A INTRINSIC
transmembrane domain 238 260 N/A INTRINSIC
transmembrane domain 272 294 N/A INTRINSIC
low complexity region 320 332 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123311
SMART Domains Protein: ENSMUSP00000115951
Gene: ENSMUSG00000071074

DomainStartEndE-ValueType
transmembrane domain 51 73 N/A INTRINSIC
transmembrane domain 88 110 N/A INTRINSIC
transmembrane domain 117 139 N/A INTRINSIC
transmembrane domain 143 165 N/A INTRINSIC
transmembrane domain 177 199 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127378
SMART Domains Protein: ENSMUSP00000114937
Gene: ENSMUSG00000071074

DomainStartEndE-ValueType
Pfam:Yip1 30 178 4.6e-13 PFAM
low complexity region 189 201 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149989
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151488
Predicted Effect probably benign
Transcript: ENSMUST00000164342
SMART Domains Protein: ENSMUSP00000130710
Gene: ENSMUSG00000012296

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
SCOP:d1fxkc_ 28 158 6e-3 SMART
low complexity region 204 215 N/A INTRINSIC
Pfam:Pilt 262 447 1.5e-59 PFAM
Pfam:Pilt 442 538 1.1e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224404
Predicted Effect probably benign
Transcript: ENSMUST00000225080
Predicted Effect probably benign
Transcript: ENSMUST00000225413
Predicted Effect probably benign
Transcript: ENSMUST00000180283
SMART Domains Protein: ENSMUSP00000137220
Gene: ENSMUSG00000012296

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
SCOP:d1fxkc_ 28 158 6e-3 SMART
low complexity region 204 215 N/A INTRINSIC
Pfam:Pilt 256 450 3.7e-83 PFAM
Pfam:Pilt 441 538 5.4e-31 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T A 2: 25,334,406 (GRCm39) S1868T possibly damaging Het
Abca3 G A 17: 24,616,327 (GRCm39) W923* probably null Het
Abca8b A G 11: 109,827,580 (GRCm39) M1476T probably damaging Het
Abi3bp T C 16: 56,498,163 (GRCm39) F729S probably damaging Het
Acacb T C 5: 114,356,919 (GRCm39) probably benign Het
Aldh3a2 A G 11: 61,139,731 (GRCm39) L467P probably benign Het
Appl1 T C 14: 26,684,795 (GRCm39) T85A probably damaging Het
Aspm T A 1: 139,408,574 (GRCm39) I2487N possibly damaging Het
Bcl2a1c G A 9: 114,159,290 (GRCm39) V23I probably benign Het
C2cd2 T A 16: 97,676,323 (GRCm39) probably benign Het
Carmil3 A T 14: 55,731,684 (GRCm39) H170L possibly damaging Het
Ccdc141 C T 2: 76,919,593 (GRCm39) V305I probably benign Het
Ccdc174 G A 6: 91,857,343 (GRCm39) probably null Het
Cep126 T G 9: 8,103,320 (GRCm39) Q230P possibly damaging Het
Chrm1 T C 19: 8,655,859 (GRCm39) I188T probably benign Het
Depdc5 T C 5: 33,081,544 (GRCm39) S569P probably damaging Het
Drc1 G A 5: 30,503,007 (GRCm39) E177K probably damaging Het
Duox1 A G 2: 122,164,279 (GRCm39) E913G probably benign Het
Fbxw9 T C 8: 85,791,055 (GRCm39) S241P probably damaging Het
Fez2 C A 17: 78,712,147 (GRCm39) probably benign Het
Fga G T 3: 82,937,606 (GRCm39) R161L possibly damaging Het
Fn3krp G T 11: 121,320,533 (GRCm39) G293* probably null Het
Gfra1 C T 19: 58,255,479 (GRCm39) E318K probably benign Het
Gli3 C T 13: 15,823,219 (GRCm39) P314S probably damaging Het
Gm5114 A T 7: 39,057,490 (GRCm39) S710T probably benign Het
Gpr141 T C 13: 19,936,769 (GRCm39) D2G probably benign Het
Inppl1 G A 7: 101,483,041 (GRCm39) Q63* probably null Het
Lsm11 C T 11: 45,824,615 (GRCm39) R304Q probably benign Het
Macf1 T C 4: 123,395,964 (GRCm39) D788G probably damaging Het
Nbas T A 12: 13,533,898 (GRCm39) D1844E probably damaging Het
Nt5c A G 11: 115,382,161 (GRCm39) F73L probably damaging Het
Osmr A T 15: 6,854,085 (GRCm39) I541N probably damaging Het
Phrf1 A G 7: 140,840,413 (GRCm39) I1203V probably benign Het
Pram1 C A 17: 33,861,109 (GRCm39) P510Q possibly damaging Het
Prepl A G 17: 85,379,444 (GRCm39) Y415H probably benign Het
Prss27 A T 17: 24,264,650 (GRCm39) H271L probably damaging Het
Ptpn18 A G 1: 34,510,989 (GRCm39) S287G probably benign Het
Ptprq T C 10: 107,535,584 (GRCm39) probably benign Het
Sars2 A G 7: 28,446,974 (GRCm39) K218E probably benign Het
Senp6 G T 9: 79,999,676 (GRCm39) S31I probably damaging Het
Shld2 G T 14: 33,971,136 (GRCm39) T31K probably damaging Het
Skint6 C A 4: 113,095,246 (GRCm39) V138F probably damaging Het
Slc4a8 C A 15: 100,685,128 (GRCm39) H168N probably damaging Het
Tbx15 T G 3: 99,220,358 (GRCm39) I150S probably damaging Het
Tbxas1 A G 6: 38,959,125 (GRCm39) N103D probably benign Het
Tmc5 A G 7: 118,222,809 (GRCm39) N170D probably damaging Het
Tmem108 A T 9: 103,361,950 (GRCm39) N545K probably benign Het
Trub1 A G 19: 57,441,616 (GRCm39) K80E possibly damaging Het
Tulp3 A T 6: 128,302,923 (GRCm39) Y299N probably damaging Het
Other mutations in Lrrc73
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02499:Lrrc73 APN 17 46,567,915 (GRCm39) unclassified probably benign
R1643:Lrrc73 UTSW 17 46,566,266 (GRCm39) critical splice donor site probably null
R1748:Lrrc73 UTSW 17 46,566,621 (GRCm39) missense probably damaging 1.00
R7164:Lrrc73 UTSW 17 46,567,169 (GRCm39) missense probably damaging 1.00
R7238:Lrrc73 UTSW 17 46,565,488 (GRCm39) missense probably damaging 1.00
R7432:Lrrc73 UTSW 17 46,566,709 (GRCm39) critical splice donor site probably null
R8859:Lrrc73 UTSW 17 46,565,455 (GRCm39) missense probably benign 0.11
R9035:Lrrc73 UTSW 17 46,565,293 (GRCm39) missense probably damaging 0.98
R9177:Lrrc73 UTSW 17 46,565,535 (GRCm39) missense probably benign 0.01
R9268:Lrrc73 UTSW 17 46,565,535 (GRCm39) missense probably benign 0.01
Posted On 2013-12-09