Incidental Mutation 'IGL02222:Lrrc63'
ID285195
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc63
Ensembl Gene ENSMUSG00000021997
Gene Nameleucine rich repeat containing 63
Synonyms4921509B22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #IGL02222
Quality Score
Status
Chromosome14
Chromosomal Location75084303-75130881 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 75086140 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 548 (Y548C)
Ref Sequence ENSEMBL: ENSMUSP00000022574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022574]
Predicted Effect probably damaging
Transcript: ENSMUST00000022574
AA Change: Y548C

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022574
Gene: ENSMUSG00000021997
AA Change: Y548C

DomainStartEndE-ValueType
low complexity region 15 37 N/A INTRINSIC
low complexity region 139 152 N/A INTRINSIC
low complexity region 276 310 N/A INTRINSIC
LRR 412 434 2.82e0 SMART
LRR 435 458 1.45e1 SMART
LRR 481 504 1.53e-1 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,282,886 R1682W probably benign Het
Angptl6 A T 9: 20,873,907 M450K probably damaging Het
Armc12 C A 17: 28,538,720 N275K probably damaging Het
Cd27 T C 6: 125,234,532 H144R probably damaging Het
Cenpf T C 1: 189,654,444 K1880E probably benign Het
Dchs1 A T 7: 105,764,887 I907N probably damaging Het
Dpy19l4 A C 4: 11,281,116 F443C possibly damaging Het
Eif3i C T 4: 129,592,088 D315N possibly damaging Het
Fam217a A G 13: 34,911,119 L128P probably damaging Het
Fam46b T C 4: 133,486,553 V245A probably damaging Het
Fetub C T 16: 22,932,328 L62F probably damaging Het
Fmn1 A T 2: 113,593,109 I1047F probably damaging Het
G2e3 A G 12: 51,363,233 H267R probably damaging Het
Gigyf2 A G 1: 87,410,863 probably null Het
Gm10650 T C 3: 128,040,140 noncoding transcript Het
Grip1 C T 10: 119,999,809 T470I probably damaging Het
Hmcn1 T G 1: 150,806,401 D466A probably benign Het
Naaa T C 5: 92,259,550 probably benign Het
Parpbp T A 10: 88,140,085 E55D possibly damaging Het
Pnpt1 G A 11: 29,130,842 A29T probably benign Het
Pnpt1 A T 11: 29,159,327 D691V possibly damaging Het
Pramef6 A G 4: 143,895,846 M313T possibly damaging Het
Psg25 T C 7: 18,529,727 N57S probably damaging Het
Selenbp2 T A 3: 94,699,962 V168E probably damaging Het
Syne2 G A 12: 75,952,843 E2337K probably damaging Het
Synj2 A G 17: 6,037,480 T1269A probably benign Het
Tnfrsf13c C A 15: 82,223,163 V144L probably damaging Het
Uspl1 G T 5: 149,194,044 V132L probably benign Het
Vmn2r58 T A 7: 41,864,025 Y398F possibly damaging Het
Vps13a T A 19: 16,682,175 T1663S probably benign Het
Ythdc1 G A 5: 86,828,043 R503H possibly damaging Het
Other mutations in Lrrc63
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01688:Lrrc63 APN 14 75084982 missense possibly damaging 0.73
IGL02385:Lrrc63 APN 14 75086200 missense probably benign
FR4548:Lrrc63 UTSW 14 75125182 small deletion probably benign
FR4589:Lrrc63 UTSW 14 75125182 small deletion probably benign
R0398:Lrrc63 UTSW 14 75126470 missense probably benign 0.06
R0637:Lrrc63 UTSW 14 75098220 splice site probably benign
R0669:Lrrc63 UTSW 14 75126110 missense probably benign 0.27
R1465:Lrrc63 UTSW 14 75107389 missense possibly damaging 0.92
R1465:Lrrc63 UTSW 14 75107389 missense possibly damaging 0.92
R1478:Lrrc63 UTSW 14 75125984 missense probably benign
R1591:Lrrc63 UTSW 14 75125892 missense possibly damaging 0.92
R1753:Lrrc63 UTSW 14 75086344 splice site probably null
R3713:Lrrc63 UTSW 14 75107336 missense probably benign 0.12
R4013:Lrrc63 UTSW 14 75098291 missense probably damaging 0.98
R4793:Lrrc63 UTSW 14 75126161 missense possibly damaging 0.93
R4888:Lrrc63 UTSW 14 75125966 missense probably benign
R4937:Lrrc63 UTSW 14 75084949 missense probably damaging 0.99
R5197:Lrrc63 UTSW 14 75084882 missense possibly damaging 0.68
R5747:Lrrc63 UTSW 14 75126464 missense probably benign
R5861:Lrrc63 UTSW 14 75107366 missense possibly damaging 0.83
R5905:Lrrc63 UTSW 14 75086174 missense possibly damaging 0.92
R6028:Lrrc63 UTSW 14 75086174 missense possibly damaging 0.92
R6661:Lrrc63 UTSW 14 75125193 missense unknown
R6982:Lrrc63 UTSW 14 75084771 missense probably benign 0.33
R7062:Lrrc63 UTSW 14 75086297 missense probably benign 0.00
R7439:Lrrc63 UTSW 14 75126257 missense possibly damaging 0.84
R7440:Lrrc63 UTSW 14 75121013 missense possibly damaging 0.91
R7441:Lrrc63 UTSW 14 75126257 missense possibly damaging 0.84
R7474:Lrrc63 UTSW 14 75126203 missense possibly damaging 0.83
R7604:Lrrc63 UTSW 14 75084969 missense possibly damaging 0.68
R7703:Lrrc63 UTSW 14 75123007 missense possibly damaging 0.91
R7819:Lrrc63 UTSW 14 75125221 small insertion probably benign
R8519:Lrrc63 UTSW 14 75125872 missense possibly damaging 0.96
Z1088:Lrrc63 UTSW 14 75125990 missense possibly damaging 0.91
Posted On2015-04-16