Incidental Mutation 'R0019:Lrrc43'
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ID19049
Institutional Source Beutler Lab
Gene Symbol Lrrc43
Ensembl Gene ENSMUSG00000063409
Gene Nameleucine rich repeat containing 43
SynonymsLOC381741
MMRRC Submission 038314-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #R0019 (G1)
Quality Score
Status Validated
Chromosome5
Chromosomal Location123489305-123508205 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 123501315 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 469 (L469P)
Ref Sequence ENSEMBL: ENSMUSP00000143602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094327] [ENSMUST00000121444] [ENSMUST00000196809]
Predicted Effect probably damaging
Transcript: ENSMUST00000094327
AA Change: L469P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091885
Gene: ENSMUSG00000063409
AA Change: L469P

DomainStartEndE-ValueType
low complexity region 63 80 N/A INTRINSIC
SCOP:d1a9na_ 117 262 3e-16 SMART
low complexity region 389 402 N/A INTRINSIC
low complexity region 537 565 N/A INTRINSIC
low complexity region 614 629 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121444
AA Change: L469P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113933
Gene: ENSMUSG00000063409
AA Change: L469P

DomainStartEndE-ValueType
low complexity region 63 80 N/A INTRINSIC
SCOP:d1a9na_ 117 262 4e-16 SMART
low complexity region 389 402 N/A INTRINSIC
low complexity region 530 558 N/A INTRINSIC
low complexity region 607 622 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000196809
AA Change: L469P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143602
Gene: ENSMUSG00000063409
AA Change: L469P

DomainStartEndE-ValueType
low complexity region 63 80 N/A INTRINSIC
SCOP:d1a9na_ 117 262 2e-16 SMART
low complexity region 389 402 N/A INTRINSIC
low complexity region 537 565 N/A INTRINSIC
low complexity region 635 652 N/A INTRINSIC
Meta Mutation Damage Score 0.2954 question?
Coding Region Coverage
  • 1x: 83.5%
  • 3x: 78.2%
  • 10x: 64.4%
  • 20x: 48.4%
Validation Efficiency 91% (93/102)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13a T A 5: 114,786,081 probably benign Het
Arhgef12 A T 9: 42,978,233 W1029R probably damaging Het
Aunip T A 4: 134,523,512 L256* probably null Het
Bahcc1 T A 11: 120,289,771 M2607K probably damaging Het
Cacng6 G T 7: 3,431,868 M152I possibly damaging Het
Cep120 A G 18: 53,709,047 probably benign Het
D130043K22Rik T A 13: 24,880,812 V737D probably damaging Het
Dock10 A G 1: 80,605,925 S187P probably damaging Het
Eogt C T 6: 97,134,273 probably benign Het
Fasn A T 11: 120,807,998 probably benign Het
Frem2 C T 3: 53,523,678 V2745M probably damaging Het
Fshb T C 2: 107,057,345 S110G probably benign Het
Gpi1 A G 7: 34,220,899 Y144H probably damaging Het
Gsap T C 5: 21,270,622 probably benign Het
Helz2 C A 2: 181,232,759 G1981C probably damaging Het
Herc3 T C 6: 58,885,065 probably benign Het
Il1r2 C T 1: 40,125,050 T359M probably damaging Het
Il6st T C 13: 112,501,148 C563R possibly damaging Het
Irs1 T A 1: 82,287,256 K1080* probably null Het
Itpr1 T C 6: 108,354,626 V182A probably damaging Het
Kalrn C T 16: 34,198,514 probably benign Het
Kcnj11 G A 7: 46,098,939 A320V probably benign Het
Lrig1 T A 6: 94,607,349 R905* probably null Het
Med29 A T 7: 28,391,076 probably benign Het
Mroh7 T C 4: 106,721,426 I18M probably benign Het
Nalcn A C 14: 123,507,489 C376G probably benign Het
Ncor2 C T 5: 125,119,481 probably null Het
Nek1 T A 8: 61,089,734 M786K probably benign Het
Nrxn2 A G 19: 6,509,957 probably benign Het
Nxpe2 T C 9: 48,319,780 I430V probably benign Het
Pcolce2 A G 9: 95,694,964 probably null Het
Pdcl A T 2: 37,351,920 L273M probably damaging Het
Pml A T 9: 58,220,493 S610R probably damaging Het
Polk C A 13: 96,504,616 R144S probably damaging Het
Rlf A G 4: 121,146,572 V1737A possibly damaging Het
Rubcnl T A 14: 75,048,263 probably benign Het
Scn3a A T 2: 65,461,701 V1567E probably damaging Het
Scyl2 A G 10: 89,659,321 I296T probably benign Het
Slc15a3 A G 19: 10,856,040 I474V probably damaging Het
Sstr1 T C 12: 58,213,149 L186S probably damaging Het
Tmem108 A T 9: 103,489,340 V484D possibly damaging Het
Trim69 A T 2: 122,174,477 probably null Het
Trim80 T G 11: 115,447,942 Y533D probably damaging Het
Uhrf1bp1l A G 10: 89,775,969 T5A probably damaging Het
Unc13b T C 4: 43,096,990 I121T possibly damaging Het
Usp40 T C 1: 87,978,411 T701A probably benign Het
Xpr1 A G 1: 155,332,399 probably benign Het
Ywhab T A 2: 164,016,170 I219N probably damaging Het
Zfp219 G T 14: 52,009,028 T169K probably damaging Het
Other mutations in Lrrc43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02123:Lrrc43 APN 5 123494279 missense probably damaging 1.00
IGL02364:Lrrc43 APN 5 123501212 missense possibly damaging 0.77
PIT4520001:Lrrc43 UTSW 5 123492467 missense possibly damaging 0.93
R0279:Lrrc43 UTSW 5 123497022 splice site probably null
R0523:Lrrc43 UTSW 5 123501242 missense probably damaging 1.00
R1723:Lrrc43 UTSW 5 123492213 unclassified probably benign
R2104:Lrrc43 UTSW 5 123501114 missense probably benign 0.00
R2213:Lrrc43 UTSW 5 123503577 missense possibly damaging 0.94
R2269:Lrrc43 UTSW 5 123503291 missense probably damaging 1.00
R4591:Lrrc43 UTSW 5 123501164 missense probably benign 0.00
R4629:Lrrc43 UTSW 5 123499520 missense probably damaging 1.00
R4727:Lrrc43 UTSW 5 123494303 missense probably damaging 1.00
R4941:Lrrc43 UTSW 5 123501063 missense probably benign 0.01
R4960:Lrrc43 UTSW 5 123499612 missense probably benign 0.19
R5028:Lrrc43 UTSW 5 123508113 missense probably damaging 1.00
R5387:Lrrc43 UTSW 5 123499671 splice site probably null
R5653:Lrrc43 UTSW 5 123499580 missense probably damaging 1.00
R6266:Lrrc43 UTSW 5 123503277 missense probably damaging 1.00
R6323:Lrrc43 UTSW 5 123503886 missense probably damaging 1.00
R6703:Lrrc43 UTSW 5 123499469 missense possibly damaging 0.94
R6869:Lrrc43 UTSW 5 123504276 critical splice donor site probably null
R6909:Lrrc43 UTSW 5 123500419 missense probably benign 0.14
R7023:Lrrc43 UTSW 5 123503763 missense probably damaging 1.00
X0024:Lrrc43 UTSW 5 123501318 missense probably benign 0.04
Posted On2013-03-25