Incidental Mutation 'R5474:Lrit1'
ID 433987
Institutional Source Beutler Lab
Gene Symbol Lrit1
Ensembl Gene ENSMUSG00000041044
Gene Name leucine-rich repeat, immunoglobulin-like and transmembrane domains 1
Synonyms Lrrc21
MMRRC Submission 043035-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R5474 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 36776787-36786903 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36783943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 424 (S424T)
Ref Sequence ENSEMBL: ENSMUSP00000113964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120052]
AlphaFold Q8K099
Predicted Effect probably benign
Transcript: ENSMUST00000120052
AA Change: S424T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113964
Gene: ENSMUSG00000041044
AA Change: S424T

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
  • 1x: 98.2%
  • 3x: 97.2%
  • 10x: 95.0%
  • 20x: 90.1%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 C T 12: 118,904,425 (GRCm39) G122S probably null Het
Ankmy1 T C 1: 92,812,926 (GRCm39) D461G possibly damaging Het
Ascc3 T C 10: 50,725,634 (GRCm39) I2119T probably benign Het
Bud13 G C 9: 46,199,251 (GRCm39) R204T probably damaging Het
Clec4a4 T C 6: 122,989,706 (GRCm39) S116P probably damaging Het
Cnga1 T C 5: 72,762,536 (GRCm39) Y326C probably damaging Het
Cngb1 A T 8: 95,978,597 (GRCm39) I588N probably damaging Het
Cspg5 A T 9: 110,080,076 (GRCm39) I334F probably damaging Het
Cyp2c29 G A 19: 39,313,436 (GRCm39) A350T probably damaging Het
D5Ertd579e G T 5: 36,772,601 (GRCm39) S598Y probably damaging Het
Dgkq A G 5: 108,797,009 (GRCm39) probably null Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dock4 T C 12: 40,795,730 (GRCm39) I849T probably benign Het
Drd4 T C 7: 140,873,641 (GRCm39) W98R probably damaging Het
Duox1 A T 2: 122,177,106 (GRCm39) Q1511L probably benign Het
Gtdc1 A T 2: 44,646,379 (GRCm39) L83Q probably damaging Het
H2-T3 G A 17: 36,500,999 (GRCm39) P6S probably damaging Het
H6pd A G 4: 150,080,546 (GRCm39) C92R probably damaging Het
Ide A G 19: 37,249,583 (GRCm39) V923A unknown Het
Kcnc4 A T 3: 107,355,207 (GRCm39) S414T possibly damaging Het
Krt14 A T 11: 100,095,571 (GRCm39) M278K probably damaging Het
Muc4 G A 16: 32,581,635 (GRCm39) S2500N unknown Het
Ncs1 A T 2: 31,170,796 (GRCm39) N70Y probably damaging Het
Nemf C A 12: 69,363,109 (GRCm39) R923L probably benign Het
Nrros T C 16: 31,963,170 (GRCm39) I246M probably benign Het
Or5w13 G A 2: 87,523,401 (GRCm39) S275F probably damaging Het
Or6a2 T A 7: 106,600,296 (GRCm39) Y257F probably damaging Het
Or8g51 T A 9: 38,609,609 (GRCm39) T18S possibly damaging Het
Polb A G 8: 23,120,386 (GRCm39) Y296H probably benign Het
Prrc2a A T 17: 35,378,189 (GRCm39) F440L unknown Het
Prrc2c T C 1: 162,537,213 (GRCm39) probably benign Het
Ptprk C T 10: 28,372,926 (GRCm39) R726* probably null Het
Rnpc3 A T 3: 113,409,158 (GRCm39) L247* probably null Het
Scfd2 C T 5: 74,692,025 (GRCm39) V86I probably benign Het
Sec14l5 A G 16: 4,996,382 (GRCm39) T443A possibly damaging Het
Slc22a29 A G 19: 8,195,221 (GRCm39) V138A probably damaging Het
Usp15 T C 10: 122,963,950 (GRCm39) D524G probably damaging Het
Vav3 A G 3: 109,571,737 (GRCm39) T220A probably benign Het
Vmn2r17 G A 5: 109,582,150 (GRCm39) S513N probably damaging Het
Zfp84 C T 7: 29,476,514 (GRCm39) S402L probably damaging Het
Zfta A T 19: 7,397,524 (GRCm39) R24W probably damaging Het
Other mutations in Lrit1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01621:Lrit1 APN 14 36,782,112 (GRCm39) missense probably damaging 0.98
IGL01676:Lrit1 APN 14 36,779,394 (GRCm39) missense probably damaging 1.00
IGL02011:Lrit1 APN 14 36,784,280 (GRCm39) missense probably damaging 1.00
PIT4142001:Lrit1 UTSW 14 36,783,998 (GRCm39) missense probably damaging 1.00
R0194:Lrit1 UTSW 14 36,783,677 (GRCm39) missense probably damaging 1.00
R0348:Lrit1 UTSW 14 36,782,182 (GRCm39) missense probably damaging 1.00
R1444:Lrit1 UTSW 14 36,783,928 (GRCm39) missense probably benign
R1500:Lrit1 UTSW 14 36,784,091 (GRCm39) missense probably benign 0.23
R1884:Lrit1 UTSW 14 36,783,710 (GRCm39) missense possibly damaging 0.94
R2880:Lrit1 UTSW 14 36,779,394 (GRCm39) missense probably damaging 1.00
R4784:Lrit1 UTSW 14 36,784,193 (GRCm39) missense possibly damaging 0.79
R4855:Lrit1 UTSW 14 36,783,773 (GRCm39) missense possibly damaging 0.75
R5100:Lrit1 UTSW 14 36,784,171 (GRCm39) missense possibly damaging 0.74
R5365:Lrit1 UTSW 14 36,784,099 (GRCm39) missense probably benign 0.00
R5475:Lrit1 UTSW 14 36,776,958 (GRCm39) missense probably benign 0.00
R5614:Lrit1 UTSW 14 36,783,911 (GRCm39) missense probably benign 0.39
R5688:Lrit1 UTSW 14 36,784,385 (GRCm39) missense possibly damaging 0.66
R5926:Lrit1 UTSW 14 36,776,966 (GRCm39) missense probably damaging 1.00
R6063:Lrit1 UTSW 14 36,776,945 (GRCm39) missense probably benign 0.05
R6920:Lrit1 UTSW 14 36,782,052 (GRCm39) missense probably damaging 0.99
R6940:Lrit1 UTSW 14 36,782,052 (GRCm39) missense probably damaging 0.99
R6941:Lrit1 UTSW 14 36,782,052 (GRCm39) missense probably damaging 0.99
R6943:Lrit1 UTSW 14 36,782,052 (GRCm39) missense probably damaging 0.99
R6945:Lrit1 UTSW 14 36,782,052 (GRCm39) missense probably damaging 0.99
R6957:Lrit1 UTSW 14 36,782,052 (GRCm39) missense probably damaging 0.99
R6958:Lrit1 UTSW 14 36,782,052 (GRCm39) missense probably damaging 0.99
R6959:Lrit1 UTSW 14 36,782,052 (GRCm39) missense probably damaging 0.99
R6960:Lrit1 UTSW 14 36,782,052 (GRCm39) missense probably damaging 0.99
R6962:Lrit1 UTSW 14 36,782,052 (GRCm39) missense probably damaging 0.99
R7784:Lrit1 UTSW 14 36,783,737 (GRCm39) missense probably benign
R8124:Lrit1 UTSW 14 36,784,005 (GRCm39) missense probably benign 0.06
R8952:Lrit1 UTSW 14 36,783,664 (GRCm39) missense probably damaging 1.00
R9106:Lrit1 UTSW 14 36,776,891 (GRCm39) missense unknown
R9297:Lrit1 UTSW 14 36,783,993 (GRCm39) missense probably damaging 1.00
R9425:Lrit1 UTSW 14 36,784,208 (GRCm39) missense possibly damaging 0.89
R9712:Lrit1 UTSW 14 36,782,084 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACTTCTACCGGATACAGTGGG -3'
(R):5'- AGTGACACTAGTCTTCCCAGGC -3'

Sequencing Primer
(F):5'- TCTACCGGATACAGTGGGATTCC -3'
(R):5'- AGTCTTCCCAGGCTCCACAG -3'
Posted On 2016-10-06