Incidental Mutation 'IGL03076:Lrch3'
ID 417678
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrch3
Ensembl Gene ENSMUSG00000022801
Gene Name leucine-rich repeats and calponin homology (CH) domain containing 3
Synonyms LOC385628, 2210409B11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # IGL03076
Quality Score
Status
Chromosome 16
Chromosomal Location 32734470-32836017 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32802223 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 58 (V58A)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023491] [ENSMUST00000135193] [ENSMUST00000165616] [ENSMUST00000170899] [ENSMUST00000165826] [ENSMUST00000170201]
AlphaFold Q8BVU0
Predicted Effect probably benign
Transcript: ENSMUST00000023491
AA Change: V426A

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000023491
Gene: ENSMUSG00000022801
AA Change: V426A

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
low complexity region 31 44 N/A INTRINSIC
LRR 104 126 2.54e1 SMART
LRR 127 150 2.86e-1 SMART
LRR 172 194 4.44e0 SMART
LRR 195 218 4.33e1 SMART
LRR 240 263 2.76e1 SMART
low complexity region 482 493 N/A INTRINSIC
low complexity region 539 554 N/A INTRINSIC
CH 651 754 9.24e-15 SMART
low complexity region 759 774 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000105610
Predicted Effect probably benign
Transcript: ENSMUST00000135193
AA Change: V426A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000130708
Gene: ENSMUSG00000022801
AA Change: V426A

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
low complexity region 31 44 N/A INTRINSIC
LRR 104 126 2.54e1 SMART
LRR 127 150 2.86e-1 SMART
LRR 172 194 4.44e0 SMART
LRR 195 218 4.33e1 SMART
LRR 240 263 2.76e1 SMART
low complexity region 482 493 N/A INTRINSIC
low complexity region 539 554 N/A INTRINSIC
CH 651 755 6.79e-13 SMART
transmembrane domain 771 793 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142290
SMART Domains Protein: ENSMUSP00000117302
Gene: ENSMUSG00000022801

DomainStartEndE-ValueType
low complexity region 31 42 N/A INTRINSIC
low complexity region 88 103 N/A INTRINSIC
SCOP:d1h67a_ 201 253 1e-11 SMART
Blast:CH 205 253 6e-27 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156928
Predicted Effect possibly damaging
Transcript: ENSMUST00000163428
AA Change: V58A

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000133034
Gene: ENSMUSG00000022801
AA Change: V58A

DomainStartEndE-ValueType
low complexity region 122 137 N/A INTRINSIC
SCOP:d1h67a_ 230 265 9e-5 SMART
Blast:CH 234 265 7e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000165616
AA Change: V272A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000130009
Gene: ENSMUSG00000022801
AA Change: V272A

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
low complexity region 31 44 N/A INTRINSIC
Blast:LRR 89 113 1e-6 BLAST
Blast:LRR 114 137 3e-7 BLAST
low complexity region 328 339 N/A INTRINSIC
low complexity region 385 400 N/A INTRINSIC
CH 497 600 9.24e-15 SMART
low complexity region 605 620 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170899
AA Change: V426A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127547
Gene: ENSMUSG00000022801
AA Change: V426A

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
low complexity region 31 44 N/A INTRINSIC
LRR 104 126 2.54e1 SMART
LRR 127 150 2.86e-1 SMART
LRR 172 194 4.44e0 SMART
LRR 195 218 4.33e1 SMART
LRR 240 263 2.76e1 SMART
low complexity region 489 504 N/A INTRINSIC
CH 565 668 9.24e-15 SMART
low complexity region 673 688 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165826
AA Change: V49A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126308
Gene: ENSMUSG00000022801
AA Change: V49A

DomainStartEndE-ValueType
low complexity region 105 116 N/A INTRINSIC
low complexity region 162 177 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170201
AA Change: V426A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126964
Gene: ENSMUSG00000022801
AA Change: V426A

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
low complexity region 31 44 N/A INTRINSIC
LRR 104 126 2.54e1 SMART
LRR 127 150 2.86e-1 SMART
LRR 172 194 4.44e0 SMART
LRR 195 218 4.33e1 SMART
LRR 240 263 2.76e1 SMART
low complexity region 482 493 N/A INTRINSIC
low complexity region 539 554 N/A INTRINSIC
CH 615 718 9.24e-15 SMART
low complexity region 723 738 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankmy2 T C 12: 36,215,917 (GRCm39) V39A probably damaging Het
Bcl2 A G 1: 106,471,037 (GRCm39) V223A probably benign Het
Bsn T A 9: 107,982,581 (GRCm39) Y3724F unknown Het
Chd8 T C 14: 52,463,619 (GRCm39) probably benign Het
Cyp2a5 T C 7: 26,535,299 (GRCm39) V87A probably damaging Het
Dnah10 T C 5: 124,807,226 (GRCm39) probably null Het
Dync1h1 C T 12: 110,624,327 (GRCm39) R3652W probably damaging Het
Epha5 T A 5: 84,479,549 (GRCm39) T152S probably damaging Het
Flnb T G 14: 7,901,988 (GRCm38) N950K probably benign Het
Fmn1 A G 2: 113,414,437 (GRCm39) D1128G probably damaging Het
Fndc3a T A 14: 72,793,908 (GRCm39) T922S possibly damaging Het
Fsip2 A T 2: 82,812,482 (GRCm39) N2934Y possibly damaging Het
Gnptab T C 10: 88,276,151 (GRCm39) V1146A possibly damaging Het
Gsg1l A G 7: 125,522,665 (GRCm39) F188L probably benign Het
Kmt2c C A 5: 25,504,149 (GRCm39) E309* probably null Het
Krt71 C T 15: 101,643,032 (GRCm39) R492H probably benign Het
Lama1 T A 17: 68,023,794 (GRCm39) V63E possibly damaging Het
Lrrc8b T A 5: 105,629,415 (GRCm39) L587Q probably damaging Het
Lrrtm1 T C 6: 77,221,568 (GRCm39) C342R probably damaging Het
Mdm1 T C 10: 117,995,588 (GRCm39) S541P possibly damaging Het
Mdn1 T A 4: 32,735,564 (GRCm39) V3410D probably damaging Het
Neb G A 2: 52,059,100 (GRCm39) H213Y probably damaging Het
Or52p2 A T 7: 102,237,679 (GRCm39) N90K probably benign Het
Or7e175 T C 9: 20,049,023 (GRCm39) S204P probably benign Het
Pigt A G 2: 164,339,585 (GRCm39) E36G probably damaging Het
Plxnb1 T A 9: 108,935,970 (GRCm39) V1120D probably damaging Het
Rapgef6 T C 11: 54,516,793 (GRCm39) L350P probably damaging Het
Rasgef1c C A 11: 49,861,073 (GRCm39) T302K probably damaging Het
Riox2 C A 16: 59,311,575 (GRCm39) A386D possibly damaging Het
Semp2l1 A G 1: 32,584,626 (GRCm39) I428T probably damaging Het
Slc12a2 T C 18: 58,059,469 (GRCm39) probably benign Het
Trim24 T A 6: 37,942,567 (GRCm39) S992R probably damaging Het
Trpc3 T C 3: 36,694,804 (GRCm39) N717D probably damaging Het
Vwa5b1 T C 4: 138,327,499 (GRCm39) D359G probably damaging Het
Wapl A G 14: 34,414,046 (GRCm39) T303A probably benign Het
Zfp128 A G 7: 12,618,636 (GRCm39) T45A possibly damaging Het
Zfp280d T C 9: 72,219,944 (GRCm39) S240P probably damaging Het
Other mutations in Lrch3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01129:Lrch3 APN 16 32,815,335 (GRCm39) missense probably benign 0.10
IGL01400:Lrch3 APN 16 32,799,911 (GRCm39) missense probably damaging 1.00
IGL02565:Lrch3 APN 16 32,826,084 (GRCm39) missense probably benign 0.00
IGL03103:Lrch3 APN 16 32,772,507 (GRCm39) missense probably damaging 1.00
IGL03125:Lrch3 APN 16 32,734,647 (GRCm39) missense possibly damaging 0.83
IGL03349:Lrch3 APN 16 32,775,694 (GRCm39) missense probably damaging 1.00
eluted UTSW 16 32,806,377 (GRCm39) missense probably null
leached UTSW 16 32,779,833 (GRCm39) missense probably damaging 1.00
R0054:Lrch3 UTSW 16 32,816,222 (GRCm39) intron probably benign
R0123:Lrch3 UTSW 16 32,782,124 (GRCm39) splice site probably benign
R0225:Lrch3 UTSW 16 32,782,124 (GRCm39) splice site probably benign
R0326:Lrch3 UTSW 16 32,799,870 (GRCm39) missense probably damaging 1.00
R0455:Lrch3 UTSW 16 32,807,250 (GRCm39) missense probably damaging 0.99
R0734:Lrch3 UTSW 16 32,817,853 (GRCm39) nonsense probably null
R1204:Lrch3 UTSW 16 32,829,584 (GRCm39) missense probably damaging 1.00
R1470:Lrch3 UTSW 16 32,808,865 (GRCm39) splice site probably benign
R1526:Lrch3 UTSW 16 32,770,746 (GRCm39) missense probably damaging 1.00
R1597:Lrch3 UTSW 16 32,770,781 (GRCm39) nonsense probably null
R1850:Lrch3 UTSW 16 32,807,163 (GRCm39) missense probably benign 0.01
R1966:Lrch3 UTSW 16 32,734,755 (GRCm39) missense possibly damaging 0.94
R2241:Lrch3 UTSW 16 32,816,211 (GRCm39) missense probably damaging 0.99
R2313:Lrch3 UTSW 16 32,782,045 (GRCm39) missense probably damaging 1.00
R2902:Lrch3 UTSW 16 32,770,766 (GRCm39) missense probably damaging 1.00
R4723:Lrch3 UTSW 16 32,808,854 (GRCm39) splice site probably null
R4795:Lrch3 UTSW 16 32,826,074 (GRCm39) missense probably damaging 1.00
R4970:Lrch3 UTSW 16 32,818,883 (GRCm39) missense probably damaging 1.00
R5223:Lrch3 UTSW 16 32,734,767 (GRCm39) missense probably damaging 0.99
R5292:Lrch3 UTSW 16 32,796,177 (GRCm39) missense probably damaging 1.00
R5414:Lrch3 UTSW 16 32,806,335 (GRCm39) splice site probably null
R5470:Lrch3 UTSW 16 32,818,960 (GRCm39) missense probably damaging 1.00
R5594:Lrch3 UTSW 16 32,734,554 (GRCm39) missense probably damaging 0.99
R5843:Lrch3 UTSW 16 32,818,896 (GRCm39) missense probably damaging 1.00
R5862:Lrch3 UTSW 16 32,816,179 (GRCm39) missense probably damaging 1.00
R5911:Lrch3 UTSW 16 32,779,833 (GRCm39) missense probably damaging 1.00
R5932:Lrch3 UTSW 16 32,796,106 (GRCm39) missense probably damaging 1.00
R6519:Lrch3 UTSW 16 32,815,367 (GRCm39) critical splice donor site probably benign
R6731:Lrch3 UTSW 16 32,770,790 (GRCm39) missense probably damaging 1.00
R7182:Lrch3 UTSW 16 32,814,149 (GRCm39) missense probably benign 0.05
R7197:Lrch3 UTSW 16 32,810,665 (GRCm39) missense probably damaging 1.00
R7319:Lrch3 UTSW 16 32,815,363 (GRCm39) missense probably benign 0.19
R7392:Lrch3 UTSW 16 32,807,125 (GRCm39) nonsense probably null
R7408:Lrch3 UTSW 16 32,807,113 (GRCm39) nonsense probably null
R7414:Lrch3 UTSW 16 32,818,883 (GRCm39) missense probably damaging 1.00
R7425:Lrch3 UTSW 16 32,826,077 (GRCm39) missense probably damaging 1.00
R7909:Lrch3 UTSW 16 32,829,663 (GRCm39) missense probably benign 0.00
R7956:Lrch3 UTSW 16 32,806,377 (GRCm39) missense probably null
R8009:Lrch3 UTSW 16 32,826,083 (GRCm39) missense possibly damaging 0.72
R8247:Lrch3 UTSW 16 32,829,713 (GRCm39) nonsense probably null
R8408:Lrch3 UTSW 16 32,775,750 (GRCm39) missense probably damaging 1.00
R8686:Lrch3 UTSW 16 32,802,223 (GRCm39) missense possibly damaging 0.52
R8756:Lrch3 UTSW 16 32,808,810 (GRCm39) missense probably benign 0.33
R8947:Lrch3 UTSW 16 32,802,199 (GRCm39) missense possibly damaging 0.66
R9459:Lrch3 UTSW 16 32,799,775 (GRCm39) missense probably damaging 0.99
R9710:Lrch3 UTSW 16 32,796,108 (GRCm39) nonsense probably null
Z1176:Lrch3 UTSW 16 32,734,686 (GRCm39) missense possibly damaging 0.89
Posted On 2016-08-02