Incidental Mutation 'IGL01313:Lrrc6'
ID73751
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc6
Ensembl Gene ENSMUSG00000022375
Gene Nameleucine rich repeat containing 6 (testis)
SynonymsLRTP
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.157) question?
Stock #IGL01313
Quality Score
Status
Chromosome15
Chromosomal Location66379858-66500910 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 66380513 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 435 (S435T)
Ref Sequence ENSEMBL: ENSMUSP00000023006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023006]
Predicted Effect probably benign
Transcript: ENSMUST00000023006
AA Change: S435T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000023006
Gene: ENSMUSG00000022375
AA Change: S435T

DomainStartEndE-ValueType
internal_repeat_1 23 65 8.03e-6 PROSPERO
internal_repeat_1 68 109 8.03e-6 PROSPERO
LRRcap 128 146 2.42e-2 SMART
low complexity region 178 204 N/A INTRINSIC
low complexity region 277 290 N/A INTRINSIC
low complexity region 397 408 N/A INTRINSIC
low complexity region 449 471 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.] The protein encoded by this gene contains several leucine-rich repeat domains and appears to be involved in the motility of cilia. Defects in this gene are a cause of primary ciliary dyskinesia-19 (CILD19). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4, 11 and 22. [provided by RefSeq, Apr 2016]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,645,010 probably null Het
Abca7 T A 10: 80,003,123 probably benign Het
Acvr1c T G 2: 58,315,974 Q41H probably benign Het
Apob A T 12: 8,000,898 N1041Y probably damaging Het
Asb5 A T 8: 54,585,763 probably benign Het
Asxl3 A T 18: 22,517,459 E835V probably benign Het
Ccdc73 A T 2: 104,907,627 M23L probably benign Het
Cep170b G A 12: 112,735,652 R293H probably damaging Het
Chd8 C A 14: 52,210,575 L316F probably damaging Het
Cldn13 T C 5: 134,915,260 S24G possibly damaging Het
Cnot10 A T 9: 114,631,855 N82K probably benign Het
Colec10 G A 15: 54,459,761 V127M probably damaging Het
Cyp2d40 T C 15: 82,761,277 S130G unknown Het
Ddx60 T A 8: 61,982,526 H904Q probably damaging Het
Dnajc2 T C 5: 21,774,976 N177S possibly damaging Het
F5 G T 1: 164,193,612 V1219L probably benign Het
Fam47c G T X: 78,737,848 R12L probably damaging Het
Fat4 T C 3: 39,007,201 I4311T possibly damaging Het
Fbf1 A G 11: 116,151,081 V545A probably benign Het
Fhod3 G A 18: 25,020,720 E420K probably damaging Het
Ikzf2 T C 1: 69,539,430 K162E probably damaging Het
Insl6 C A 19: 29,321,553 S153I possibly damaging Het
Kcnh8 A G 17: 52,834,680 Y317C probably damaging Het
Lzts1 C A 8: 69,139,107 V130L probably benign Het
Mill1 T C 7: 18,264,633 I256T possibly damaging Het
Mycbpap A C 11: 94,509,319 probably null Het
Olfr808 A G 10: 129,767,595 Y33C probably damaging Het
Pdia6 T A 12: 17,270,541 probably benign Het
Pik3c2b C T 1: 133,071,631 Q406* probably null Het
Pkhd1 C A 1: 20,201,024 G3102C probably damaging Het
Polr3b T A 10: 84,725,743 I1122N probably damaging Het
Ryr2 T A 13: 11,638,485 probably null Het
Samhd1 A G 2: 157,116,401 I300T probably damaging Het
Skint5 T A 4: 113,805,164 I609F unknown Het
Slc27a3 G T 3: 90,386,554 T541K probably damaging Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Sv2c C T 13: 96,088,289 V171M probably damaging Het
Tenm2 A G 11: 36,024,248 V2154A probably damaging Het
Thoc1 A T 18: 9,987,158 I433F probably benign Het
Thoc2 A T X: 41,827,346 V865D probably benign Het
Trdn C A 10: 33,200,220 P282Q probably damaging Het
Twsg1 C A 17: 65,948,704 C25F probably damaging Het
Usp34 T A 11: 23,473,206 I3155N probably damaging Het
Vmn2r106 T A 17: 20,278,389 Q420L probably damaging Het
Vmn2r109 C T 17: 20,550,157 R523K probably damaging Het
Other mutations in Lrrc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01292:Lrrc6 APN 15 66481233 splice site probably benign
IGL01739:Lrrc6 APN 15 66449477 missense probably benign
IGL01863:Lrrc6 APN 15 66396974 splice site probably benign
IGL02074:Lrrc6 APN 15 66489490 missense probably damaging 1.00
IGL02146:Lrrc6 APN 15 66489525 nonsense probably null
IGL02146:Lrrc6 APN 15 66489526 missense probably benign 0.08
IGL03194:Lrrc6 APN 15 66442199 missense probably benign 0.03
droopy UTSW 15 66447676 splice site probably benign
R0087:Lrrc6 UTSW 15 66469975 missense probably benign 0.00
R0178:Lrrc6 UTSW 15 66454101 missense probably benign 0.05
R0463:Lrrc6 UTSW 15 66380474 missense probably benign
R0539:Lrrc6 UTSW 15 66447606 missense probably damaging 0.99
R0608:Lrrc6 UTSW 15 66380474 missense probably benign
R1124:Lrrc6 UTSW 15 66438415 missense possibly damaging 0.92
R2209:Lrrc6 UTSW 15 66449551 missense probably benign 0.00
R2257:Lrrc6 UTSW 15 66437587 splice site probably benign
R2844:Lrrc6 UTSW 15 66447676 splice site probably benign
R2867:Lrrc6 UTSW 15 66438408 nonsense probably null
R2867:Lrrc6 UTSW 15 66438408 nonsense probably null
R4281:Lrrc6 UTSW 15 66380529 missense probably benign 0.35
R5163:Lrrc6 UTSW 15 66442218 missense probably benign 0.01
R5636:Lrrc6 UTSW 15 66500816 utr 5 prime probably null
R6365:Lrrc6 UTSW 15 66454134 missense probably benign 0.00
R6567:Lrrc6 UTSW 15 66438379 missense probably benign 0.43
R7751:Lrrc6 UTSW 15 66449563 missense probably benign 0.00
R7774:Lrrc6 UTSW 15 66449552 missense probably benign 0.01
Posted On2013-10-07