Incidental Mutation 'IGL01137:Lrch1'
ID 52722
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrch1
Ensembl Gene ENSMUSG00000068015
Gene Name leucine-rich repeats and calponin homology (CH) domain containing 1
Synonyms 4832412D13Rik, Chdc1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01137
Quality Score
Status
Chromosome 14
Chromosomal Location 74992115-75185316 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 74994532 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 691 (V691M)
Ref Sequence ENSEMBL: ENSMUSP00000086363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088970] [ENSMUST00000228252]
AlphaFold P62046
Predicted Effect probably damaging
Transcript: ENSMUST00000088970
AA Change: V691M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000086363
Gene: ENSMUSG00000068015
AA Change: V691M

DomainStartEndE-ValueType
low complexity region 25 44 N/A INTRINSIC
LRR 109 131 1.86e1 SMART
LRR_TYP 132 155 3.39e-3 SMART
LRR 177 199 1.41e1 SMART
LRR 200 223 4.34e-1 SMART
LRR 245 268 1.66e1 SMART
low complexity region 306 322 N/A INTRINSIC
CH 591 698 1.71e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228134
Predicted Effect probably damaging
Transcript: ENSMUST00000228252
AA Change: V664M

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
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 with a leucine-rich repeat and a calponin homology domain. Polymorphism in this gene may be associated with susceptibililty to knee osteoarthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygous knockout leads to increased susceptibility to experimental autoimmune encephalomyelitis as a result of increased migration of T cells into the central nervous system. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 C A 15: 94,292,492 (GRCm39) probably null Het
Ankrd11 T C 8: 123,611,075 (GRCm39) T2583A probably damaging Het
Anxa7 G A 14: 20,506,648 (GRCm39) Q431* probably null Het
Asb15 T A 6: 24,556,521 (GRCm39) D5E probably benign Het
Bex1 C A X: 135,115,243 (GRCm39) D29Y probably damaging Het
Cadm2 G A 16: 66,612,238 (GRCm39) T108I probably damaging Het
Cecr2 T G 6: 120,738,989 (GRCm39) L1211V probably damaging Het
Cntn2 T C 1: 132,449,035 (GRCm39) probably benign Het
Ctrc C A 4: 141,566,065 (GRCm39) V198L possibly damaging Het
Cyp2g1 A G 7: 26,513,684 (GRCm39) S208G possibly damaging Het
Ddx46 T A 13: 55,817,530 (GRCm39) Y718* probably null Het
Dlec1 T C 9: 118,966,379 (GRCm39) I1116T probably damaging Het
Dnajc13 A G 9: 104,037,689 (GRCm39) Y2177H probably benign Het
Dpp6 T C 5: 27,919,486 (GRCm39) F661S probably damaging Het
Dpy19l2 G A 9: 24,569,858 (GRCm39) T365I possibly damaging Het
Flot2 T C 11: 77,940,333 (GRCm39) Y27H probably damaging Het
Gsta4 T C 9: 78,113,204 (GRCm39) Y95H possibly damaging Het
Kir3dl1 A G X: 135,427,360 (GRCm39) T192A probably damaging Het
Llgl1 T A 11: 60,600,825 (GRCm39) N640K probably benign Het
Myh9 T C 15: 77,653,742 (GRCm39) D1302G probably benign Het
Myo18a T G 11: 77,718,655 (GRCm39) F935V probably damaging Het
Mypn T C 10: 62,988,633 (GRCm39) E464G probably benign Het
Or52l1 A G 7: 104,829,695 (GRCm39) V290A probably benign Het
Or5ac25 A C 16: 59,182,335 (GRCm39) M82R probably benign Het
Or5b101 A T 19: 13,005,394 (GRCm39) F100I possibly damaging Het
Or8k38 A T 2: 86,488,055 (GRCm39) I249N possibly damaging Het
R3hdm1 C T 1: 128,109,612 (GRCm39) R39C probably damaging Het
Rps3a3 A T 13: 108,807,666 (GRCm39) probably benign Het
Sec24b C T 3: 129,801,093 (GRCm39) S401N probably benign Het
Slc22a22 C A 15: 57,117,674 (GRCm39) G289V probably damaging Het
Stk33 T C 7: 108,928,775 (GRCm39) I246V probably benign Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Timmdc1 A T 16: 38,338,747 (GRCm39) H114Q probably benign Het
Tlcd2 T C 11: 75,360,337 (GRCm39) Y127H probably damaging Het
Tnfrsf11a G A 1: 105,737,147 (GRCm39) D85N possibly damaging Het
Trbc2 T C 6: 41,524,751 (GRCm39) probably benign Het
Unc13b G A 4: 43,091,291 (GRCm39) R39H probably damaging Het
Vwa8 T C 14: 79,341,087 (GRCm39) L1521P probably damaging Het
Zbtb17 T A 4: 141,193,678 (GRCm39) C607* probably null Het
Other mutations in Lrch1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01124:Lrch1 APN 14 74,994,503 (GRCm39) missense probably benign 0.22
IGL01978:Lrch1 APN 14 75,023,782 (GRCm39) missense probably damaging 1.00
IGL01988:Lrch1 APN 14 75,032,813 (GRCm39) splice site probably benign
IGL02036:Lrch1 APN 14 75,032,733 (GRCm39) splice site probably benign
IGL02650:Lrch1 APN 14 75,051,138 (GRCm39) missense probably damaging 1.00
IGL03006:Lrch1 APN 14 75,051,060 (GRCm39) missense probably damaging 0.99
IGL03106:Lrch1 APN 14 75,073,202 (GRCm39) missense possibly damaging 0.84
IGL03353:Lrch1 APN 14 75,095,482 (GRCm39) missense probably damaging 1.00
FR4304:Lrch1 UTSW 14 75,057,005 (GRCm39) missense possibly damaging 0.81
LCD18:Lrch1 UTSW 14 75,142,461 (GRCm39) intron probably benign
R0129:Lrch1 UTSW 14 75,073,186 (GRCm39) missense probably benign 0.13
R0312:Lrch1 UTSW 14 75,185,034 (GRCm39) missense possibly damaging 0.82
R0441:Lrch1 UTSW 14 75,184,985 (GRCm39) missense possibly damaging 0.95
R0622:Lrch1 UTSW 14 75,033,491 (GRCm39) missense probably benign 0.00
R1418:Lrch1 UTSW 14 75,041,709 (GRCm39) splice site probably benign
R1618:Lrch1 UTSW 14 75,051,144 (GRCm39) missense probably damaging 1.00
R2116:Lrch1 UTSW 14 75,022,971 (GRCm39) missense probably damaging 1.00
R2428:Lrch1 UTSW 14 75,044,985 (GRCm39) splice site probably benign
R3707:Lrch1 UTSW 14 75,095,437 (GRCm39) missense probably damaging 0.99
R4352:Lrch1 UTSW 14 75,056,018 (GRCm39) missense probably damaging 0.98
R5689:Lrch1 UTSW 14 75,023,764 (GRCm39) missense probably damaging 1.00
R5754:Lrch1 UTSW 14 75,054,558 (GRCm39) missense probably damaging 1.00
R6142:Lrch1 UTSW 14 75,184,940 (GRCm39) missense probably damaging 1.00
R6469:Lrch1 UTSW 14 75,054,525 (GRCm39) missense probably damaging 1.00
R6740:Lrch1 UTSW 14 75,049,063 (GRCm39) missense probably benign
R6871:Lrch1 UTSW 14 75,049,063 (GRCm39) missense probably benign
R7051:Lrch1 UTSW 14 75,022,962 (GRCm39) missense probably damaging 1.00
R7438:Lrch1 UTSW 14 74,994,477 (GRCm39) missense possibly damaging 0.88
R7509:Lrch1 UTSW 14 75,185,048 (GRCm39) missense probably benign 0.25
R8037:Lrch1 UTSW 14 75,023,794 (GRCm39) missense probably damaging 1.00
R8262:Lrch1 UTSW 14 75,055,935 (GRCm39) missense probably damaging 0.97
R8302:Lrch1 UTSW 14 75,032,772 (GRCm39) missense probably benign 0.01
R8943:Lrch1 UTSW 14 75,032,808 (GRCm39) missense probably benign 0.06
R9427:Lrch1 UTSW 14 75,032,787 (GRCm39) missense probably benign
RF002:Lrch1 UTSW 14 75,185,014 (GRCm39) small deletion probably benign
RF009:Lrch1 UTSW 14 75,185,014 (GRCm39) small deletion probably benign
RF018:Lrch1 UTSW 14 75,184,995 (GRCm39) frame shift probably null
RF022:Lrch1 UTSW 14 75,185,014 (GRCm39) small deletion probably benign
RF023:Lrch1 UTSW 14 75,185,006 (GRCm39) frame shift probably null
RF037:Lrch1 UTSW 14 75,184,989 (GRCm39) small deletion probably benign
RF039:Lrch1 UTSW 14 75,184,989 (GRCm39) small deletion probably benign
RF043:Lrch1 UTSW 14 75,185,015 (GRCm39) frame shift probably null
RF061:Lrch1 UTSW 14 75,185,007 (GRCm39) frame shift probably null
RF061:Lrch1 UTSW 14 75,184,995 (GRCm39) frame shift probably null
Posted On 2013-06-21