Incidental Mutation 'IGL02026:Lrrtm3'
ID184186
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 #IGL02026
Quality Score
Status
Chromosome10
Chromosomal Location63928472-64090277 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 64088452 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 312 (N312S)
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: N312S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101079
Gene: ENSMUSG00000042846
AA Change: N312S

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 A T 14: 68,571,802 V237E possibly damaging Het
Amh T C 10: 80,805,408 L54P probably damaging Het
Aoc3 T C 11: 101,337,595 S743P probably benign Het
Arhgap23 T A 11: 97,451,581 W19R probably damaging Het
Atm C T 9: 53,442,417 probably null Het
BC100530 C A 16: 36,367,486 V6F possibly damaging Het
Ccdc47 T C 11: 106,205,027 E281G probably damaging Het
Col7a1 A C 9: 108,968,029 K1650N probably damaging Het
Evi2b T C 11: 79,515,787 S321G probably damaging Het
Fancm T G 12: 65,105,734 V988G probably benign Het
Gbp2 A G 3: 142,633,480 Y431C probably damaging Het
Gclc T C 9: 77,792,060 V530A probably benign Het
Gm4985 T G X: 23,957,994 H314P probably damaging Het
Gm5885 T C 6: 133,531,328 noncoding transcript Het
Hlcs A T 16: 94,134,705 I576N probably damaging Het
Hnrnpul1 A T 7: 25,745,162 F240L probably damaging Het
Itgb6 C A 2: 60,628,066 V448F possibly damaging Het
Lama1 A G 17: 67,809,292 T2385A possibly damaging Het
Lamc2 C T 1: 153,144,736 probably benign Het
Lrrc32 C T 7: 98,499,560 R516C probably benign Het
Ltbp4 G A 7: 27,327,417 R468* probably null Het
Man1a T C 10: 54,014,473 E373G probably damaging Het
Myo1h A T 5: 114,323,444 Q250L probably null Het
Myo9a T C 9: 59,905,962 V2077A probably damaging Het
Olfr114 A G 17: 37,589,407 probably benign Het
Otud5 C T X: 7,871,993 probably benign Het
Pcsk1 A G 13: 75,112,653 S332G probably benign Het
Pde8b A G 13: 95,034,361 V549A probably damaging Het
Pgap1 A T 1: 54,494,819 M645K probably benign Het
Pm20d1 A T 1: 131,801,759 R175* probably null Het
Polr2b A G 5: 77,332,252 N585S probably benign Het
Recql T A 6: 142,366,668 K41* probably null Het
Sccpdh A T 1: 179,678,069 H138L possibly damaging Het
Sec31a A T 5: 100,369,626 S951T probably benign Het
Slc44a4 A T 17: 34,921,856 probably benign Het
Tchhl1 G T 3: 93,470,555 A189S probably damaging Het
Tdrd12 G A 7: 35,504,233 probably benign Het
Trbv12-1 A G 6: 41,113,994 D100G probably damaging Het
Ttll13 T A 7: 80,260,379 S757T probably benign Het
Vipas39 T A 12: 87,251,709 probably benign Het
Vmn1r64 G A 7: 5,883,650 P298L possibly damaging Het
Vmn1r81 A G 7: 12,260,505 S59P probably damaging Het
Vsx1 A T 2: 150,688,527 V145D probably benign Het
Wdfy4 T A 14: 33,093,300 N1586I probably damaging Het
Zan T A 5: 137,405,464 probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zzef1 T A 11: 72,881,338 M1707K probably benign Het
Other mutations in Lrrtm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Lrrtm3 APN 10 64089209 missense probably damaging 1.00
IGL02452:Lrrtm3 APN 10 64088036 missense probably damaging 0.98
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 On2014-05-07