Incidental Mutation 'IGL01862:Lrch4'
ID178371
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrch4
Ensembl Gene ENSMUSG00000093445
Gene Nameleucine-rich repeats and calponin homology (CH) domain containing 4
Synonyms2810008P14Rik, LRN, LRRN4, 2900069C24Rik, SAP25
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.321) question?
Stock #IGL01862
Quality Score
Status
Chromosome5
Chromosomal Location137629121-137641099 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 137637009 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 254 (I254F)
Ref Sequence ENSEMBL: ENSMUSP00000135832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031734] [ENSMUST00000166099] [ENSMUST00000175968] [ENSMUST00000176011] [ENSMUST00000176667] [ENSMUST00000177466] [ENSMUST00000177477] [ENSMUST00000177545]
Predicted Effect probably damaging
Transcript: ENSMUST00000031734
AA Change: I254F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031734
Gene: ENSMUSG00000093445
AA Change: I254F

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
LRR 90 112 4.84e1 SMART
LRR_TYP 113 136 4.61e-5 SMART
LRR 158 180 2.63e0 SMART
LRR_TYP 181 204 1.1e-2 SMART
LRR 226 249 3.98e1 SMART
low complexity region 389 405 N/A INTRINSIC
low complexity region 440 453 N/A INTRINSIC
low complexity region 474 479 N/A INTRINSIC
low complexity region 510 530 N/A INTRINSIC
CH 533 642 9.24e-15 SMART
transmembrane domain 656 678 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166099
SMART Domains Protein: ENSMUSP00000127076
Gene: ENSMUSG00000079165

DomainStartEndE-ValueType
Pfam:SAP25 76 261 1.8e-77 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000175968
AA Change: I200F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134767
Gene: ENSMUSG00000093445
AA Change: I200F

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
LRR 36 58 4.84e1 SMART
LRR_TYP 59 82 4.61e-5 SMART
LRR 104 126 2.63e0 SMART
LRR_TYP 127 150 1.1e-2 SMART
LRR 172 195 3.98e1 SMART
low complexity region 335 351 N/A INTRINSIC
low complexity region 386 399 N/A INTRINSIC
low complexity region 420 425 N/A INTRINSIC
low complexity region 456 476 N/A INTRINSIC
CH 479 588 9.24e-15 SMART
transmembrane domain 602 624 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176011
SMART Domains Protein: ENSMUSP00000135133
Gene: ENSMUSG00000093445

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176256
Predicted Effect probably damaging
Transcript: ENSMUST00000176667
AA Change: I254F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135832
Gene: ENSMUSG00000093445
AA Change: I254F

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
LRR 90 112 4.84e1 SMART
LRR_TYP 113 136 4.61e-5 SMART
LRR 158 180 2.63e0 SMART
LRR_TYP 181 204 1.1e-2 SMART
LRR 226 249 3.98e1 SMART
low complexity region 389 405 N/A INTRINSIC
low complexity region 440 453 N/A INTRINSIC
low complexity region 474 479 N/A INTRINSIC
low complexity region 510 530 N/A INTRINSIC
CH 533 648 4.73e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176768
Predicted Effect probably benign
Transcript: ENSMUST00000176871
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176988
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177354
Predicted Effect probably benign
Transcript: ENSMUST00000177466
Predicted Effect probably benign
Transcript: ENSMUST00000177477
SMART Domains Protein: ENSMUSP00000135724
Gene: ENSMUSG00000093445

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000177545
AA Change: I254F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135286
Gene: ENSMUSG00000029720
AA Change: I254F

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
LRR 90 112 4.84e1 SMART
LRR_TYP 113 136 4.61e-5 SMART
LRR 158 180 2.63e0 SMART
LRR_TYP 181 204 1.1e-2 SMART
LRR 226 249 3.98e1 SMART
low complexity region 389 405 N/A INTRINSIC
low complexity region 440 453 N/A INTRINSIC
low complexity region 474 479 N/A INTRINSIC
low complexity region 510 530 N/A INTRINSIC
CH 533 642 9.24e-15 SMART
transmembrane domain 656 678 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains leucine-rich repeats (LRR) at its amino terminus and that is known to be involved in ligand binding. The carboxyl terminus may act as a membrane anchor. Identified structural elements suggest that the encoded protein resembles a receptor. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933406M09Rik G A 1: 134,390,611 V374I probably benign Het
Abca8b G T 11: 109,947,171 S1085* probably null Het
Akap9 T G 5: 3,951,705 S94A probably damaging Het
Akap9 T A 5: 4,065,856 N3425K probably damaging Het
Anapc7 T A 5: 122,440,119 I389N probably benign Het
Aqp7 G A 4: 41,045,321 R20* probably null Het
Cacna1h C T 17: 25,383,483 G1524R probably damaging Het
Cacng4 T C 11: 107,794,370 Y32C probably damaging Het
Ccdc130 G T 8: 84,260,534 probably benign Het
Cep120 A C 18: 53,714,767 S673R probably benign Het
Cep162 T C 9: 87,253,933 E19G possibly damaging Het
Cpxm2 C T 7: 132,059,811 V416I probably benign Het
Dapk1 A G 13: 60,726,610 T427A probably benign Het
Ecm1 A T 3: 95,734,273 D549E probably benign Het
Efemp1 T A 11: 28,921,428 N342K probably damaging Het
Erc2 T C 14: 28,271,569 probably benign Het
Fam160b2 C T 14: 70,587,690 R402H probably benign Het
Galnt13 T C 2: 54,857,914 V269A probably damaging Het
Gm6465 T G 5: 11,849,053 L171R probably damaging Het
Gpatch1 A G 7: 35,295,278 V521A probably benign Het
Heatr5b A T 17: 78,796,485 V1087E possibly damaging Het
Ikzf2 A T 1: 69,538,898 V484D probably damaging Het
Ints4 T A 7: 97,541,153 V953E probably damaging Het
Iqce T C 5: 140,699,725 D15G possibly damaging Het
Kif3a T A 11: 53,570,541 N4K possibly damaging Het
Ly75 A T 2: 60,299,172 V1623D probably damaging Het
Mapt T A 11: 104,290,002 probably benign Het
Mast1 A T 8: 84,913,246 probably null Het
Mcc G T 18: 44,759,296 Q84K probably benign Het
Mtfr2 G A 10: 20,348,403 V28M probably benign Het
Myh8 T A 11: 67,289,694 Y585* probably null Het
Napsa T C 7: 44,582,493 V202A probably damaging Het
Nsd2 A G 5: 33,843,736 K199R probably null Het
Ntpcr C T 8: 125,736,098 A18V probably benign Het
Olfr1009 G T 2: 85,722,128 C241F probably damaging Het
Olfr117 G T 17: 37,659,477 N285K probably damaging Het
Olfr169 A T 16: 19,566,676 M69K probably damaging Het
Olfr689 T A 7: 105,314,232 I76N probably damaging Het
Olfr877 A G 9: 37,855,181 D121G probably damaging Het
Os9 A G 10: 127,099,704 V299A probably benign Het
Pcdhb7 T C 18: 37,343,862 S684P possibly damaging Het
Phf19 A C 2: 34,897,055 probably null Het
Pkd1l3 G A 8: 109,631,276 probably null Het
Pkhd1 A G 1: 20,358,910 I2422T probably damaging Het
Plxna2 T A 1: 194,643,950 V64E possibly damaging Het
Psme4 T A 11: 30,812,038 C459* probably null Het
Ptk6 T C 2: 181,199,640 S159G probably benign Het
Rhd T C 4: 134,890,339 I329T possibly damaging Het
Scfd1 A G 12: 51,445,711 Y601C probably damaging Het
Shroom3 T C 5: 92,962,289 S1753P probably damaging Het
Slc8a1 A C 17: 81,442,201 probably null Het
Spg7 T A 8: 123,076,930 L233Q probably damaging Het
Strip1 C A 3: 107,621,882 R353L probably damaging Het
Ubr1 T C 2: 120,934,342 N544D possibly damaging Het
Ubr4 A G 4: 139,477,158 T4794A possibly damaging Het
Usp24 A G 4: 106,408,898 probably benign Het
Vmn1r193 A T 13: 22,219,814 C3S probably benign Het
Zdhhc5 C T 2: 84,690,492 R447H probably benign Het
Zfp202 A G 9: 40,211,828 I629V probably benign Het
Zfp462 T A 4: 55,023,441 C990S probably damaging Het
Other mutations in Lrch4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Lrch4 APN 5 137637747 missense possibly damaging 0.49
IGL03289:Lrch4 APN 5 137633577 missense probably damaging 1.00
R0144:Lrch4 UTSW 5 137638543 critical splice donor site probably null
R0724:Lrch4 UTSW 5 137637308 missense probably damaging 1.00
R1330:Lrch4 UTSW 5 137637789 missense probably damaging 0.99
R1557:Lrch4 UTSW 5 137637556 missense probably benign 0.00
R1694:Lrch4 UTSW 5 137638461 missense probably benign 0.00
R2358:Lrch4 UTSW 5 137638548 unclassified probably benign
R3755:Lrch4 UTSW 5 137637730 missense probably damaging 1.00
R3756:Lrch4 UTSW 5 137637730 missense probably damaging 1.00
R4608:Lrch4 UTSW 5 137639146 nonsense probably null
R5056:Lrch4 UTSW 5 137636851 missense probably damaging 1.00
R5114:Lrch4 UTSW 5 137637917 missense probably benign
R5181:Lrch4 UTSW 5 137629403 missense probably damaging 1.00
R5325:Lrch4 UTSW 5 137637906 missense probably damaging 1.00
R5430:Lrch4 UTSW 5 137638533 missense possibly damaging 0.46
R5712:Lrch4 UTSW 5 137637926 missense possibly damaging 0.57
R5846:Lrch4 UTSW 5 137633657 missense probably damaging 1.00
R5909:Lrch4 UTSW 5 137633865 missense possibly damaging 0.87
R7319:Lrch4 UTSW 5 137639715 missense
R7525:Lrch4 UTSW 5 137639465 missense probably damaging 1.00
R7761:Lrch4 UTSW 5 137639763 missense
RF009:Lrch4 UTSW 5 137637543 critical splice acceptor site probably null
Posted On2014-05-07