Incidental Mutation 'IGL02452:Lrrtm3'
ID293715
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrtm3
Ensembl Gene ENSMUSG00000042846
Gene Nameleucine rich repeat transmembrane neuronal 3
Synonyms9630044H04Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02452
Quality Score
Status
Chromosome10
Chromosomal Location63928472-64090277 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 64088036 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 451 (K451E)
Ref Sequence ENSEMBL: ENSMUSP00000101079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075099] [ENSMUST00000105439] [ENSMUST00000105440] [ENSMUST00000105441]
Predicted Effect probably benign
Transcript: ENSMUST00000075099
SMART Domains Protein: ENSMUSP00000074606
Gene: ENSMUSG00000060843

DomainStartEndE-ValueType
Pfam:Vinculin 17 363 5.1e-66 PFAM
Pfam:Vinculin 324 856 1e-175 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105439
AA Change: K451E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101079
Gene: ENSMUSG00000042846
AA Change: K451E

DomainStartEndE-ValueType
low complexity region 13 27 N/A INTRINSIC
LRRNT 33 65 2.11e-3 SMART
LRR_TYP 84 107 2.09e-3 SMART
LRR 108 131 6.77e0 SMART
LRR_TYP 132 155 2.71e-2 SMART
LRR_TYP 156 179 1.47e-3 SMART
LRR 180 203 1.43e-1 SMART
LRR 204 227 1.29e1 SMART
LRR 228 251 2.14e1 SMART
LRR 252 276 1.45e1 SMART
LRR 277 300 2.02e-1 SMART
Blast:LRRCT 312 361 6e-16 BLAST
transmembrane domain 421 443 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105440
SMART Domains Protein: ENSMUSP00000101080
Gene: ENSMUSG00000060843

DomainStartEndE-ValueType
Pfam:Vinculin 17 363 5.1e-66 PFAM
Pfam:Vinculin 324 856 1e-175 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105441
SMART Domains Protein: ENSMUSP00000101081
Gene: ENSMUSG00000060843

DomainStartEndE-ValueType
Pfam:Vinculin 17 363 5.1e-66 PFAM
Pfam:Vinculin 324 856 1e-175 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131945
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133588
SMART Domains Protein: ENSMUSP00000114794
Gene: ENSMUSG00000042846

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
LRRNT 40 72 2.11e-3 SMART
LRR_TYP 91 114 2.09e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148712
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm C A 3: 153,941,970 V11F probably damaging Het
Alk A T 17: 71,902,625 Y941* probably null Het
Armc4 C T 18: 7,129,461 E906K probably damaging Het
Blm A T 7: 80,503,377 probably null Het
Blvrb T C 7: 27,459,340 V55A possibly damaging Het
Cdh23 T A 10: 60,317,942 T2288S probably damaging Het
Csnk1g1 T A 9: 66,007,785 M242K probably damaging Het
Cyp2c29 G A 19: 39,290,847 G96D possibly damaging Het
Cyp2d26 T A 15: 82,792,626 H173L probably benign Het
Cyp2g1 T A 7: 26,811,446 S131T probably benign Het
Dupd1 G A 14: 21,702,922 T52I probably damaging Het
Dzip3 T A 16: 48,938,537 probably benign Het
Espl1 T C 15: 102,299,839 S427P probably damaging Het
Fasn A T 11: 120,808,180 D2424E probably benign Het
Flrt2 G A 12: 95,779,483 M198I probably benign Het
Gen1 A T 12: 11,242,575 S404R probably benign Het
Gm11596 A T 11: 99,792,980 C105S unknown Het
Gm8765 A T 13: 50,703,077 H917L probably damaging Het
Hdlbp A T 1: 93,417,511 V714D probably damaging Het
Igkv4-80 A G 6: 69,016,832 V25A probably benign Het
Igkv8-27 C T 6: 70,171,941 W76* probably null Het
Ikzf1 T C 11: 11,748,545 L132P probably damaging Het
Kcna6 C A 6: 126,738,480 C482F possibly damaging Het
Lhx9 A T 1: 138,841,842 L47Q probably damaging Het
Lrp4 T A 2: 91,474,002 D175E probably damaging Het
Mcm9 C T 10: 53,541,557 V17M probably damaging Het
Mios T A 6: 8,222,492 S475R probably benign Het
Mmp24 C T 2: 155,815,788 R533C probably damaging Het
Moxd1 C T 10: 24,282,752 P435S probably damaging Het
Mta2 T A 19: 8,950,306 I497N probably benign Het
Mtus2 T C 5: 148,077,663 V422A probably benign Het
Ndufaf1 A T 2: 119,656,426 F260Y probably damaging Het
Nfasc C T 1: 132,620,924 probably null Het
Nid1 A T 13: 13,508,720 T1128S probably benign Het
Olfr583 A G 7: 103,051,931 D211G probably benign Het
Pcdh12 G A 18: 38,281,693 P793L probably benign Het
Pclo A T 5: 14,676,966 probably benign Het
Prpf31 T A 7: 3,634,186 N161K possibly damaging Het
Prpf6 T G 2: 181,649,085 N656K probably benign Het
Ptprn T A 1: 75,258,169 H258L probably benign Het
Rab19 A G 6: 39,389,798 T216A probably benign Het
Ryr3 A C 2: 112,833,990 L1652W probably damaging Het
Six2 A C 17: 85,685,378 S232R possibly damaging Het
Spag17 T C 3: 100,027,391 V663A probably benign Het
Spag5 A G 11: 78,304,623 N252S probably benign Het
Sptb C T 12: 76,609,036 probably null Het
Synj1 A G 16: 90,961,365 probably benign Het
Tekt2 T C 4: 126,324,852 H36R possibly damaging Het
Tjp1 A T 7: 65,312,655 M1258K probably damaging Het
Txnrd3 T C 6: 89,674,795 *502Q probably null Het
Other mutations in Lrrtm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Lrrtm3 APN 10 64089209 missense probably damaging 1.00
IGL02026:Lrrtm3 APN 10 64088452 missense probably damaging 1.00
IGL03145:Lrrtm3 APN 10 64089020 missense probably benign 0.00
R1511:Lrrtm3 UTSW 10 64089025 missense probably damaging 1.00
R1556:Lrrtm3 UTSW 10 64088149 missense probably damaging 0.97
R1921:Lrrtm3 UTSW 10 64088378 missense probably benign 0.37
R1933:Lrrtm3 UTSW 10 64088513 missense possibly damaging 0.81
R2849:Lrrtm3 UTSW 10 64089031 missense probably damaging 1.00
R4707:Lrrtm3 UTSW 10 64088002 missense probably benign 0.42
R4785:Lrrtm3 UTSW 10 64088002 missense probably benign 0.42
R5423:Lrrtm3 UTSW 10 64088152 missense possibly damaging 0.81
R5559:Lrrtm3 UTSW 10 63930266 missense probably benign 0.35
R6295:Lrrtm3 UTSW 10 63930134 missense probably benign
R6301:Lrrtm3 UTSW 10 64089222 missense probably benign 0.26
R6356:Lrrtm3 UTSW 10 63930164 missense probably benign 0.13
R6799:Lrrtm3 UTSW 10 64087851 nonsense probably null
R7419:Lrrtm3 UTSW 10 64088146 missense probably damaging 1.00
R7494:Lrrtm3 UTSW 10 64089179 missense probably damaging 1.00
R7694:Lrrtm3 UTSW 10 64088039 missense probably benign 0.03
R7723:Lrrtm3 UTSW 10 64088648 missense possibly damaging 0.69
R8197:Lrrtm3 UTSW 10 64088516 missense possibly damaging 0.65
R8310:Lrrtm3 UTSW 10 64089708 critical splice donor site probably null
Z1176:Lrrtm3 UTSW 10 64089355 missense probably damaging 1.00
Posted On2015-04-16