Incidental Mutation 'R6909:Lrrc43'
ID538917
Institutional Source Beutler Lab
Gene Symbol Lrrc43
Ensembl Gene ENSMUSG00000063409
Gene Nameleucine rich repeat containing 43
SynonymsLOC381741
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #R6909 (G1)
Quality Score225.009
Status Not validated
Chromosome5
Chromosomal Location123489305-123508205 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 123500419 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 363 (H363Q)
Ref Sequence ENSEMBL: ENSMUSP00000091885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094327] [ENSMUST00000121444] [ENSMUST00000196809]
Predicted Effect probably benign
Transcript: ENSMUST00000094327
AA Change: H363Q

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000091885
Gene: ENSMUSG00000063409
AA Change: H363Q

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 benign
Transcript: ENSMUST00000121444
AA Change: H363Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113933
Gene: ENSMUSG00000063409
AA Change: H363Q

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 benign
Transcript: ENSMUST00000196809
AA Change: H363Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000143602
Gene: ENSMUSG00000063409
AA Change: H363Q

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 G T 11: 110,115,497 Q1261K probably benign Het
Acpp T C 9: 104,300,965 Y329C probably damaging Het
Agrn G T 4: 156,177,007 H585N possibly damaging Het
Ano1 G A 7: 144,655,731 T211M probably damaging Het
Atic T G 1: 71,576,846 probably null Het
Catsperd T A 17: 56,650,781 S229R probably damaging Het
Ccdc173 A T 2: 69,781,848 probably null Het
Cmya5 T C 13: 93,091,252 T2443A probably benign Het
Dysf A T 6: 84,192,938 E1772V probably damaging Het
Eps8l1 T A 7: 4,469,900 L107* probably null Het
Fam92a T C 4: 12,168,309 T97A probably benign Het
Fpr3 T A 17: 17,971,167 F233L probably benign Het
Gjc2 A T 11: 59,177,092 V188E unknown Het
Gm45861 T A 8: 27,527,081 Y690N unknown Het
Gm8251 C T 1: 44,059,775 R721Q possibly damaging Het
Gsdma2 T A 11: 98,652,557 C224* probably null Het
Gucy2d T A 7: 98,467,625 Y881N probably damaging Het
Hcn3 A G 3: 89,152,629 probably null Het
Hectd1 G T 12: 51,764,162 probably null Het
Ifitm5 A G 7: 140,949,259 F146L probably benign Het
Impg2 T C 16: 56,204,584 F18S probably damaging Het
Ino80c T A 18: 24,108,755 probably benign Het
Itga10 A G 3: 96,662,599 H1109R probably benign Het
Kdm3b T A 18: 34,827,328 probably null Het
Klra8 T G 6: 130,125,160 N104T probably benign Het
Llgl2 G A 11: 115,850,799 C585Y probably damaging Het
Lmod2 T A 6: 24,604,158 D377E probably benign Het
Lrat G A 3: 82,903,654 S20F probably damaging Het
Lyst T G 13: 13,743,375 I3340S probably damaging Het
Magi1 C A 6: 93,697,320 G948W probably damaging Het
Map3k4 A C 17: 12,270,985 F520V probably damaging Het
Mcm4 A T 16: 15,628,697 N607K probably damaging Het
Mta3 T C 17: 83,766,551 V216A possibly damaging Het
Ncor1 C A 11: 62,329,486 G2131V probably damaging Het
Olfr1123 A G 2: 87,418,615 H189R probably damaging Het
Olfr1155 A G 2: 87,942,690 S313P probably benign Het
Olfr373 T A 8: 72,100,528 V256E possibly damaging Het
Olfr827 T A 10: 130,210,753 I126L probably benign Het
Pramef8 T C 4: 143,417,909 L275P probably damaging Het
Ptpn2 A T 18: 67,675,971 probably null Het
Scn10a A G 9: 119,609,790 I1671T probably damaging Het
Scyl2 A T 10: 89,645,742 S622T probably benign Het
Sim1 C T 10: 50,909,410 R192C possibly damaging Het
Skor2 A G 18: 76,860,557 H658R possibly damaging Het
Slc10a5 A G 3: 10,335,595 S2P possibly damaging Het
Slc37a4 A T 9: 44,400,034 K207N possibly damaging Het
Syne2 G T 12: 76,064,195 V5768L probably benign Het
Tdpoz3 T A 3: 93,826,465 V149E probably damaging Het
Tekt5 T C 16: 10,358,301 N460S probably damaging Het
Tk2 G T 8: 104,236,810 Y142* probably null Het
Tkfc T A 19: 10,596,266 Q236L probably benign Het
Tln2 G A 9: 67,392,532 T148I probably damaging Het
Trim62 A G 4: 128,884,228 D20G probably damaging Het
Tspan14 A C 14: 40,913,441 V166G probably benign Het
Ttn A T 2: 76,881,721 probably benign Het
Vmn1r217 T A 13: 23,113,938 M265L probably benign Het
Vmn2r117 C G 17: 23,479,505 Q31H possibly damaging Het
Wdr66 A G 5: 123,287,752 Y418C probably damaging Het
Zfp72 T C 13: 74,371,742 T406A possibly 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
R0019:Lrrc43 UTSW 5 123501315 missense probably damaging 1.00
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
R7023:Lrrc43 UTSW 5 123503763 missense probably damaging 1.00
R7910:Lrrc43 UTSW 5 123492407 missense probably damaging 1.00
R7910:Lrrc43 UTSW 5 123501021 missense probably benign 0.27
R8093:Lrrc43 UTSW 5 123501129 missense probably benign 0.41
R8127:Lrrc43 UTSW 5 123492271 missense probably damaging 1.00
X0024:Lrrc43 UTSW 5 123501318 missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- AGACCTTTTGGCACGTGAGG -3'
(R):5'- TGTCAGGGTCAGTTGAAACAG -3'

Sequencing Primer
(F):5'- ACGTGAGGCCCAGTTTG -3'
(R):5'- CTGCCTAGGGAAAGGGCTATC -3'
Posted On2018-11-06