Incidental Mutation 'IGL01676:Lrit1'
ID103639
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrit1
Ensembl Gene ENSMUSG00000041044
Gene Nameleucine-rich repeat, immunoglobulin-like and transmembrane domains 1
SynonymsLrrc21
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL01676
Quality Score
Status
Chromosome14
Chromosomal Location37054830-37064946 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 37057437 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 109 (L109Q)
Ref Sequence ENSEMBL: ENSMUSP00000113964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120052]
Predicted Effect probably damaging
Transcript: ENSMUST00000120052
AA Change: L109Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113964
Gene: ENSMUSG00000041044
AA Change: L109Q

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
LRRNT 22 63 1.97e-3 SMART
LRR 82 105 1.03e1 SMART
LRR 106 129 3e1 SMART
LRR 130 152 1.12e1 SMART
LRR_TYP 154 177 4.47e-3 SMART
LRRCT 201 253 2.04e-7 SMART
IGc2 267 336 6.55e-8 SMART
FN3 429 506 2.22e0 SMART
transmembrane domain 531 553 N/A INTRINSIC
low complexity region 581 595 N/A INTRINSIC
low complexity region 597 608 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired synaptic communication of cone photoreceptors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A T 7: 119,708,643 R334S probably benign Het
Adamts3 A T 5: 89,677,754 F1075L probably benign Het
Adamts3 A G 5: 89,881,543 V30A possibly damaging Het
Bpifb5 A G 2: 154,229,049 N223D possibly damaging Het
Cacna1e T C 1: 154,398,476 R2228G probably damaging Het
Cacna1e T C 1: 154,412,450 E1894G probably damaging Het
Calr4 A G 4: 109,244,250 K110E probably damaging Het
Catsperz G T 19: 6,925,053 Y24* probably null Het
Clec9a T G 6: 129,421,155 S219A probably benign Het
Csrnp3 T A 2: 65,948,992 I16N probably damaging Het
Ddx19a A G 8: 110,980,989 probably null Het
Diaph1 G A 18: 37,856,188 Q905* probably null Het
Dnah10 T C 5: 124,803,328 M2743T possibly damaging Het
Ears2 A T 7: 122,044,558 D392E probably benign Het
Fsip1 T C 2: 118,240,384 probably benign Het
Gm9268 A G 7: 43,024,709 N397S probably damaging Het
Ighv1-74 T C 12: 115,802,703 Y98C possibly damaging Het
Igsf10 T C 3: 59,326,011 K1767R probably benign Het
Igsf10 C T 3: 59,329,335 A1142T probably benign Het
Lpar6 A G 14: 73,239,570 N324D probably benign Het
Nlrp4f A T 13: 65,195,119 D237E possibly damaging Het
Oas1h G T 5: 120,871,834 G324V probably damaging Het
Pak1 T G 7: 97,883,531 D179E probably benign Het
Prop1 T A 11: 50,952,129 Q77L probably damaging Het
Scn10a A T 9: 119,672,165 Y184* probably null Het
Sdk1 T C 5: 142,127,836 F1546S probably damaging Het
Trim67 A T 8: 124,815,160 I366F possibly damaging Het
Vmn2r94 T G 17: 18,257,010 M380L probably benign Het
Zfand3 T G 17: 30,135,363 S51R possibly damaging Het
Zfp36l3 T C X: 53,775,657 S197G probably benign Het
Other mutations in Lrit1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01621:Lrit1 APN 14 37060155 missense probably damaging 0.98
IGL02011:Lrit1 APN 14 37062323 missense probably damaging 1.00
PIT4142001:Lrit1 UTSW 14 37062041 missense probably damaging 1.00
R0194:Lrit1 UTSW 14 37061720 missense probably damaging 1.00
R0348:Lrit1 UTSW 14 37060225 missense probably damaging 1.00
R1444:Lrit1 UTSW 14 37061971 missense probably benign
R1500:Lrit1 UTSW 14 37062134 missense probably benign 0.23
R1884:Lrit1 UTSW 14 37061753 missense possibly damaging 0.94
R2880:Lrit1 UTSW 14 37057437 missense probably damaging 1.00
R4784:Lrit1 UTSW 14 37062236 missense possibly damaging 0.79
R4855:Lrit1 UTSW 14 37061816 missense possibly damaging 0.75
R5100:Lrit1 UTSW 14 37062214 missense possibly damaging 0.74
R5365:Lrit1 UTSW 14 37062142 missense probably benign 0.00
R5474:Lrit1 UTSW 14 37061986 missense probably benign
R5475:Lrit1 UTSW 14 37055001 missense probably benign 0.00
R5614:Lrit1 UTSW 14 37061954 missense probably benign 0.39
R5688:Lrit1 UTSW 14 37062428 missense possibly damaging 0.66
R5926:Lrit1 UTSW 14 37055009 missense probably damaging 1.00
R6063:Lrit1 UTSW 14 37054988 missense probably benign 0.05
R6920:Lrit1 UTSW 14 37060095 missense probably damaging 0.99
R6940:Lrit1 UTSW 14 37060095 missense probably damaging 0.99
R6941:Lrit1 UTSW 14 37060095 missense probably damaging 0.99
R6943:Lrit1 UTSW 14 37060095 missense probably damaging 0.99
R6945:Lrit1 UTSW 14 37060095 missense probably damaging 0.99
R6957:Lrit1 UTSW 14 37060095 missense probably damaging 0.99
R6958:Lrit1 UTSW 14 37060095 missense probably damaging 0.99
R6959:Lrit1 UTSW 14 37060095 missense probably damaging 0.99
R6960:Lrit1 UTSW 14 37060095 missense probably damaging 0.99
R6962:Lrit1 UTSW 14 37060095 missense probably damaging 0.99
R7784:Lrit1 UTSW 14 37061780 missense probably benign
Posted On2014-01-21