Incidental Mutation 'IGL02191:Lrtm1'
ID283863
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrtm1
Ensembl Gene ENSMUSG00000045776
Gene Nameleucine-rich repeats and transmembrane domains 1
SynonymsA930016D02Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL02191
Quality Score
Status
Chromosome14
Chromosomal Location29018208-29033645 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 29021949 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 125 (I125L)
Ref Sequence ENSEMBL: ENSMUSP00000153372 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022567] [ENSMUST00000055662] [ENSMUST00000224708] [ENSMUST00000224760]
Predicted Effect probably benign
Transcript: ENSMUST00000022567
SMART Domains Protein: ENSMUSP00000022567
Gene: ENSMUSG00000021991

DomainStartEndE-ValueType
low complexity region 14 27 N/A INTRINSIC
Blast:WNT1 28 103 2e-33 BLAST
Pfam:VWA_N 113 229 6.8e-40 PFAM
VWA 254 439 4.13e-24 SMART
Pfam:Cache_1 452 548 3e-32 PFAM
low complexity region 1070 1088 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000055662
AA Change: I125L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000061828
Gene: ENSMUSG00000045776
AA Change: I125L

DomainStartEndE-ValueType
LRRNT 32 66 4.41e-6 SMART
LRR 65 84 2.33e2 SMART
LRR 85 108 2.67e-1 SMART
LRR 109 131 1.15e1 SMART
LRR_TYP 133 156 3.89e-3 SMART
LRRCT 192 245 8.63e-6 SMART
transmembrane domain 297 319 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000224708
AA Change: I152L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000224760
AA Change: I125L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T C 12: 80,174,109 I642V probably benign Het
Adam5 G A 8: 24,812,423 R185* probably null Het
C2 T C 17: 34,866,563 I122V probably damaging Het
Camsap1 A G 2: 25,929,880 I1531T probably damaging Het
Celsr1 T C 15: 85,979,004 T1276A possibly damaging Het
Cnot7 A T 8: 40,510,027 N35K probably benign Het
Cyp2a12 A G 7: 27,036,611 I482V probably benign Het
Cyp3a57 A G 5: 145,365,685 E97G probably damaging Het
Cyp51 C A 5: 4,100,147 R192I probably benign Het
Ddx59 T C 1: 136,417,158 L189P probably damaging Het
Dnah6 A G 6: 73,017,797 I4127T probably benign Het
Dock3 C T 9: 106,938,141 V1217I probably benign Het
Ergic2 T C 6: 148,204,821 D57G probably null Het
Flvcr2 A T 12: 85,786,192 K329* probably null Het
Foxp1 T C 6: 98,945,600 S327G probably damaging Het
Gen1 A C 12: 11,242,296 H562Q probably benign Het
Gjc2 A G 11: 59,177,560 V32A probably damaging Het
Grk4 C T 5: 34,755,189 H574Y probably benign Het
Kif15 T A 9: 122,975,679 C93S probably damaging Het
Mrgprb8 A G 7: 48,388,779 Y66C probably damaging Het
Pfn1 G A 11: 70,654,383 A33V probably damaging Het
Scnn1b A C 7: 121,917,513 K492Q probably damaging Het
Slc22a29 G A 19: 8,218,681 probably benign Het
Spocd1 A G 4: 129,953,587 D523G probably damaging Het
Tmem144 A T 3: 79,826,852 D181E possibly damaging Het
Tmem220 G A 11: 67,031,107 C101Y probably damaging Het
Tmpo A G 10: 91,161,879 V682A probably benign Het
Wdr93 A G 7: 79,749,220 K34R probably damaging Het
Zdhhc16 C A 19: 41,937,691 C8* probably null Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Lrtm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0102:Lrtm1 UTSW 14 29022227 splice site probably benign
R0102:Lrtm1 UTSW 14 29022227 splice site probably benign
R0602:Lrtm1 UTSW 14 29022222 splice site probably benign
R5214:Lrtm1 UTSW 14 29021694 missense possibly damaging 0.58
R5253:Lrtm1 UTSW 14 29021844 missense probably benign 0.13
R5787:Lrtm1 UTSW 14 29021990 missense possibly damaging 0.89
R5937:Lrtm1 UTSW 14 29021830 missense possibly damaging 0.90
R6238:Lrtm1 UTSW 14 29027671 missense probably benign 0.02
R6850:Lrtm1 UTSW 14 29027450 missense probably benign 0.00
R7304:Lrtm1 UTSW 14 29022118 missense probably damaging 0.97
R7363:Lrtm1 UTSW 14 29021893 missense probably damaging 1.00
R7385:Lrtm1 UTSW 14 29027716 missense probably benign 0.00
Posted On2015-04-16