Incidental Mutation 'R6242:Lrrc59'
ID 505314
Institutional Source Beutler Lab
Gene Symbol Lrrc59
Ensembl Gene ENSMUSG00000020869
Gene Name leucine rich repeat containing 59
Synonyms C78668
MMRRC Submission 044434-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.266) question?
Stock # R6242 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 94520603-94536049 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 94525809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 132 (L132F)
Ref Sequence ENSEMBL: ENSMUSP00000021239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021239]
AlphaFold Q922Q8
Predicted Effect possibly damaging
Transcript: ENSMUST00000021239
AA Change: L132F

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000021239
Gene: ENSMUSG00000020869
AA Change: L132F

DomainStartEndE-ValueType
LRR 38 60 6.22e0 SMART
LRR 61 83 1.33e-1 SMART
LRR 84 106 3.75e0 SMART
LRR 107 131 1.09e2 SMART
coiled coil region 148 216 N/A INTRINSIC
transmembrane domain 244 266 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138782
Meta Mutation Damage Score 0.0892 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 99% (75/76)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy6 G T 15: 98,501,896 (GRCm39) C239* probably null Het
Akr1c6 A G 13: 4,486,361 (GRCm39) Q56R probably benign Het
Apaf1 T A 10: 90,898,025 (GRCm39) D244V probably damaging Het
Araf G T X: 20,726,339 (GRCm39) R601L probably damaging Homo
Arhgef11 C A 3: 87,635,385 (GRCm39) A898E probably benign Het
Asxl3 A T 18: 22,655,433 (GRCm39) N1148Y probably damaging Het
Atf6 T A 1: 170,621,545 (GRCm39) Q492L possibly damaging Het
Atrnl1 G T 19: 57,630,910 (GRCm39) V226F probably benign Het
Cfap68 C T 9: 50,675,215 (GRCm39) E148K probably benign Het
Cntnap1 A T 11: 101,073,364 (GRCm39) Y615F probably damaging Het
Crybg3 T C 16: 59,376,053 (GRCm39) T1734A probably benign Het
Ctdp1 A C 18: 80,502,427 (GRCm39) V161G probably damaging Het
Cyp4a30b T A 4: 115,311,587 (GRCm39) V85E possibly damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Epha6 A T 16: 59,503,025 (GRCm39) W961R probably damaging Het
Fam114a1 A G 5: 65,188,695 (GRCm39) E475G probably damaging Het
Fam186a A G 15: 99,837,788 (GRCm39) Y2819H unknown Het
Fancm A T 12: 65,163,216 (GRCm39) Q1460L probably benign Het
Fancm C A 12: 65,163,223 (GRCm39) N1462K probably benign Het
Fgf14 T C 14: 124,913,940 (GRCm39) K64E probably benign Het
Fndc5 T C 4: 129,033,688 (GRCm39) V152A probably benign Het
Garem1 C G 18: 21,262,229 (GRCm39) V862L possibly damaging Het
Grin3b G A 10: 79,812,013 (GRCm39) G814R probably damaging Het
Hacd4 A G 4: 88,332,524 (GRCm39) S226P probably benign Het
Htt A G 5: 35,003,356 (GRCm39) Y1277C probably damaging Het
Igkv1-131 T A 6: 67,743,062 (GRCm39) D107V probably damaging Het
Iqcc T C 4: 129,510,639 (GRCm39) D292G probably damaging Het
Krtap13 C T 16: 88,548,384 (GRCm39) V35I probably damaging Het
Liat1 T C 11: 75,890,981 (GRCm39) S32P probably damaging Het
Mcub T C 3: 129,709,444 (GRCm39) S290G probably benign Het
Mettl4 A G 17: 95,042,802 (GRCm39) W345R probably damaging Het
Msgn1 G A 12: 11,258,526 (GRCm39) R142W probably damaging Het
Myo5c A G 9: 75,180,893 (GRCm39) I761V probably benign Het
Neb T A 2: 52,066,824 (GRCm39) K5879M probably damaging Het
Nkd2 C T 13: 73,970,905 (GRCm39) V226M probably damaging Het
Nt5el T A 13: 105,246,048 (GRCm39) V203E probably benign Het
Or51a24 T G 7: 103,733,771 (GRCm39) H172P possibly damaging Het
Or5b106 T A 19: 13,123,450 (GRCm39) H191L probably benign Het
Parp4 T A 14: 56,832,856 (GRCm39) L393* probably null Het
Pcdhgb6 G A 18: 37,876,608 (GRCm39) V439I probably benign Het
Pde1a T A 2: 79,959,136 (GRCm39) T15S probably benign Het
Pgr T A 9: 8,900,980 (GRCm39) I171N probably benign Het
Podxl T A 6: 31,503,180 (GRCm39) D296V probably benign Het
Polr3e A T 7: 120,539,690 (GRCm39) E479V possibly damaging Het
Prdm10 A T 9: 31,252,548 (GRCm39) H427L possibly damaging Het
Prl5a1 A T 13: 28,326,538 (GRCm39) K5* probably null Het
Prph A G 15: 98,955,004 (GRCm39) S325G probably damaging Het
Rabl2 C A 15: 89,468,555 (GRCm39) W49L probably benign Het
Rbbp8nl T A 2: 179,922,767 (GRCm39) I209F probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Scn7a T C 2: 66,531,110 (GRCm39) D589G probably benign Het
Sdr42e1 A T 8: 118,389,936 (GRCm39) L235Q possibly damaging Het
Serpina3a T C 12: 104,082,260 (GRCm39) M11T probably benign Het
Slc6a4 A T 11: 76,909,184 (GRCm39) K399* probably null Het
Slco4c1 T A 1: 96,767,008 (GRCm39) T337S probably damaging Het
Spc25 A T 2: 69,027,555 (GRCm39) F112L probably damaging Het
Swt1 A G 1: 151,283,365 (GRCm39) S331P probably benign Het
Tab1 A T 15: 80,039,971 (GRCm39) K264* probably null Het
Tagln3 T A 16: 45,544,701 (GRCm39) probably benign Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tbck A G 3: 132,400,189 (GRCm39) D80G probably benign Het
Tcim A T 8: 24,928,911 (GRCm39) M1K probably null Het
Thap2 A G 10: 115,208,831 (GRCm39) S37P unknown Het
Tjp2 A T 19: 24,076,967 (GRCm39) probably null Het
Tln1 G A 4: 43,533,145 (GRCm39) S2390L probably damaging Het
Trpm5 T G 7: 142,626,919 (GRCm39) I1101L probably benign Het
Ttc3 T G 16: 94,243,554 (GRCm39) M831R probably benign Het
Tulp3 A G 6: 128,300,050 (GRCm39) C459R probably damaging Het
Uaca G A 9: 60,777,326 (GRCm39) R571Q probably damaging Het
Unc13b A T 4: 43,165,800 (GRCm39) T195S possibly damaging Het
Urgcp A G 11: 5,666,691 (GRCm39) L549P probably benign Het
Usp10 G T 8: 120,668,577 (GRCm39) A293S probably benign Het
Vmn2r23 A G 6: 123,681,359 (GRCm39) E89G possibly damaging Het
Vmn2r75 A C 7: 85,814,592 (GRCm39) D300E probably damaging Het
Wif1 T C 10: 120,870,366 (GRCm39) I40T possibly damaging Het
Zmynd8 G A 2: 165,740,867 (GRCm39) R6C possibly damaging Het
Other mutations in Lrrc59
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01321:Lrrc59 APN 11 94,529,426 (GRCm39) nonsense probably null
IGL01525:Lrrc59 APN 11 94,525,522 (GRCm39) missense probably damaging 0.99
IGL01929:Lrrc59 APN 11 94,534,342 (GRCm39) missense possibly damaging 0.69
IGL01958:Lrrc59 APN 11 94,529,354 (GRCm39) splice site probably null
IGL02635:Lrrc59 APN 11 94,534,282 (GRCm39) missense probably damaging 1.00
R0277:Lrrc59 UTSW 11 94,534,248 (GRCm39) missense probably damaging 1.00
R0323:Lrrc59 UTSW 11 94,534,248 (GRCm39) missense probably damaging 1.00
R1794:Lrrc59 UTSW 11 94,529,421 (GRCm39) missense probably benign
R4833:Lrrc59 UTSW 11 94,525,498 (GRCm39) missense probably benign 0.00
R6817:Lrrc59 UTSW 11 94,520,891 (GRCm39) missense probably damaging 1.00
R7709:Lrrc59 UTSW 11 94,525,811 (GRCm39) missense probably damaging 1.00
R7724:Lrrc59 UTSW 11 94,534,170 (GRCm39) missense probably damaging 0.99
R8066:Lrrc59 UTSW 11 94,525,426 (GRCm39) missense possibly damaging 0.88
R9143:Lrrc59 UTSW 11 94,525,456 (GRCm39) missense probably damaging 1.00
R9166:Lrrc59 UTSW 11 94,522,959 (GRCm39) missense probably benign 0.00
R9266:Lrrc59 UTSW 11 94,532,044 (GRCm39) critical splice acceptor site probably null
Z1176:Lrrc59 UTSW 11 94,534,147 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- GGTCAAGGGCTTAGGAACTGTG -3'
(R):5'- ACAGACCTCTCCATCAGGCT -3'

Sequencing Primer
(F):5'- CTTAGGAACTGTGGGAGCAC -3'
(R):5'- ATCAGGCTCAGCTCGCTG -3'
Posted On 2018-02-28