Incidental Mutation 'IGL02191:Lrtm1'
ID 283863
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrtm1
Ensembl Gene ENSMUSG00000045776
Gene Name leucine-rich repeats and transmembrane domains 1
Synonyms A930016D02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # IGL02191
Quality Score
Status
Chromosome 14
Chromosomal Location 28740165-28755599 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 28743906 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8BXQ3
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: 80,220,883 (GRCm39) I642V probably benign Het
Adam5 G A 8: 25,302,439 (GRCm39) R185* probably null Het
C2 T C 17: 35,085,539 (GRCm39) I122V probably damaging Het
Camsap1 A G 2: 25,819,892 (GRCm39) I1531T probably damaging Het
Celsr1 T C 15: 85,863,205 (GRCm39) T1276A possibly damaging Het
Cnot7 A T 8: 40,963,068 (GRCm39) N35K probably benign Het
Cyp2a12 A G 7: 26,736,036 (GRCm39) I482V probably benign Het
Cyp3a57 A G 5: 145,302,495 (GRCm39) E97G probably damaging Het
Cyp51 C A 5: 4,150,147 (GRCm39) R192I probably benign Het
Ddx59 T C 1: 136,344,896 (GRCm39) L189P probably damaging Het
Dnah6 A G 6: 72,994,780 (GRCm39) I4127T probably benign Het
Dock3 C T 9: 106,815,340 (GRCm39) V1217I probably benign Het
Ergic2 T C 6: 148,106,319 (GRCm39) D57G probably null Het
Flvcr2 A T 12: 85,832,966 (GRCm39) K329* probably null Het
Foxp1 T C 6: 98,922,561 (GRCm39) S327G probably damaging Het
Gen1 A C 12: 11,292,297 (GRCm39) H562Q probably benign Het
Gjc2 A G 11: 59,068,386 (GRCm39) V32A probably damaging Het
Grk4 C T 5: 34,912,533 (GRCm39) H574Y probably benign Het
Kif15 T A 9: 122,804,744 (GRCm39) C93S probably damaging Het
Mrgprb8 A G 7: 48,038,527 (GRCm39) Y66C probably damaging Het
Pfn1 G A 11: 70,545,209 (GRCm39) A33V probably damaging Het
Scnn1b A C 7: 121,516,736 (GRCm39) K492Q probably damaging Het
Slc22a29 G A 19: 8,196,045 (GRCm39) probably benign Het
Spocd1 A G 4: 129,847,380 (GRCm39) D523G probably damaging Het
Tmem144 A T 3: 79,734,159 (GRCm39) D181E possibly damaging Het
Tmem220 G A 11: 66,921,933 (GRCm39) C101Y probably damaging Het
Tmpo A G 10: 90,997,741 (GRCm39) V682A probably benign Het
Wdr93 A G 7: 79,398,968 (GRCm39) K34R probably damaging Het
Zdhhc16 C A 19: 41,926,130 (GRCm39) C8* probably null Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Lrtm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0102:Lrtm1 UTSW 14 28,744,184 (GRCm39) splice site probably benign
R0102:Lrtm1 UTSW 14 28,744,184 (GRCm39) splice site probably benign
R0602:Lrtm1 UTSW 14 28,744,179 (GRCm39) splice site probably benign
R5214:Lrtm1 UTSW 14 28,743,651 (GRCm39) missense possibly damaging 0.58
R5253:Lrtm1 UTSW 14 28,743,801 (GRCm39) missense probably benign 0.13
R5787:Lrtm1 UTSW 14 28,743,947 (GRCm39) missense possibly damaging 0.89
R5937:Lrtm1 UTSW 14 28,743,787 (GRCm39) missense possibly damaging 0.90
R6238:Lrtm1 UTSW 14 28,749,628 (GRCm39) missense probably benign 0.02
R6850:Lrtm1 UTSW 14 28,749,407 (GRCm39) missense probably benign 0.00
R7304:Lrtm1 UTSW 14 28,744,075 (GRCm39) missense probably damaging 0.97
R7363:Lrtm1 UTSW 14 28,743,850 (GRCm39) missense probably damaging 1.00
R7385:Lrtm1 UTSW 14 28,749,673 (GRCm39) missense probably benign 0.00
R8181:Lrtm1 UTSW 14 28,743,894 (GRCm39) missense probably damaging 1.00
R9299:Lrtm1 UTSW 14 28,743,714 (GRCm39) missense probably damaging 1.00
RF036:Lrtm1 UTSW 14 28,743,400 (GRCm39) frame shift probably null
RF063:Lrtm1 UTSW 14 28,743,400 (GRCm39) frame shift probably null
Posted On 2015-04-16