Incidental Mutation 'IGL02105:Lrrc17'
ID279934
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc17
Ensembl Gene ENSMUSG00000039883
Gene Nameleucine rich repeat containing 17
Synonyms6130400C22Rik, 37kDa, 4833425M04Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02105
Quality Score
Status
Chromosome5
Chromosomal Location21543559-21575904 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 21570257 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 272 (I272M)
Ref Sequence ENSEMBL: ENSMUSP00000038569 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035651] [ENSMUST00000051358] [ENSMUST00000115234]
Predicted Effect probably benign
Transcript: ENSMUST00000035651
AA Change: I272M

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000038569
Gene: ENSMUSG00000039883
AA Change: I272M

DomainStartEndE-ValueType
low complexity region 33 45 N/A INTRINSIC
Blast:LRR 83 105 8e-6 BLAST
LRR 106 129 9.96e-1 SMART
LRR 130 153 1.07e0 SMART
LRRCT 165 215 8.98e-4 SMART
LRR 270 292 8.73e1 SMART
LRR 293 316 3.52e-1 SMART
LRR 317 340 7.55e-1 SMART
LRRCT 352 403 8.95e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000051358
SMART Domains Protein: ENSMUSP00000052716
Gene: ENSMUSG00000048520

DomainStartEndE-ValueType
low complexity region 160 173 N/A INTRINSIC
FBOX 243 283 3.73e-4 SMART
LRR_CC 328 353 6.62e-6 SMART
LRR 354 378 3.67e2 SMART
LRR 379 404 2.75e-3 SMART
LRR 407 425 4.51e2 SMART
LRR 426 451 2.63e0 SMART
LRR 476 501 4.15e1 SMART
LRR 502 526 1.82e1 SMART
LRR 529 554 1.76e-1 SMART
LRR_CC 555 580 4.61e-5 SMART
LRR 604 629 8.81e-2 SMART
LRR 630 655 2.37e1 SMART
LRR 656 681 3.21e-4 SMART
LRR 682 707 6.57e-1 SMART
LRR 708 733 9.47e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115234
SMART Domains Protein: ENSMUSP00000110889
Gene: ENSMUSG00000048520

DomainStartEndE-ValueType
low complexity region 160 173 N/A INTRINSIC
FBOX 243 283 3.73e-4 SMART
LRR_CC 328 353 6.62e-6 SMART
LRR 354 378 3.67e2 SMART
LRR 379 404 2.75e-3 SMART
LRR 407 432 6.88e-4 SMART
Blast:LRR 433 458 7e-8 BLAST
LRR 459 484 2.63e0 SMART
LRR 509 534 4.15e1 SMART
LRR 535 559 1.82e1 SMART
LRR 562 587 1.76e-1 SMART
LRR_CC 588 613 4.61e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137788
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted allele exhibit normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 G T 3: 95,680,064 P734H probably damaging Het
Arfip2 A T 7: 105,639,383 I14N probably damaging Het
Asap3 G T 4: 136,228,474 probably null Het
Atg2a T A 19: 6,250,403 probably benign Het
Bbs12 T C 3: 37,320,147 L248P probably damaging Het
Brd3 A T 2: 27,459,776 I255N probably damaging Het
Ccdc141 A G 2: 77,049,577 probably null Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Chd9 T A 8: 90,932,488 D25E probably damaging Het
Cobl T C 11: 12,249,651 K1325R probably damaging Het
Dnmt1 T A 9: 20,907,882 E1486V unknown Het
Dock2 T C 11: 34,714,525 N256D probably damaging Het
Dpp3 G A 19: 4,916,771 S408L probably damaging Het
Dync2h1 C T 9: 7,075,892 G2992R probably damaging Het
Eef1a1 T C 9: 78,480,551 D35G probably benign Het
Fntb A G 12: 76,862,489 K84E probably benign Het
Gfi1 A G 5: 107,723,722 probably null Het
Glb1l3 T A 9: 26,818,527 I516F probably damaging Het
Hltf A G 3: 20,092,757 N560S probably damaging Het
Kif21b A G 1: 136,171,303 N1443S probably benign Het
Knl1 T A 2: 119,071,808 I1330K probably benign Het
Krt20 C T 11: 99,438,001 V33M probably benign Het
Lao1 A G 4: 118,968,443 T487A probably damaging Het
Larp4 A G 15: 99,986,071 E63G probably damaging Het
Lrp1 A G 10: 127,544,579 V3901A probably damaging Het
Malrd1 A T 2: 16,127,863 Q1865L unknown Het
Mtg1 T C 7: 140,150,206 L305P probably damaging Het
Mylk4 T A 13: 32,720,562 E427D probably benign Het
Myom1 G T 17: 71,047,716 probably benign Het
Nbeal1 A G 1: 60,253,501 E1104G probably damaging Het
Obox5 A G 7: 15,758,575 M152V probably benign Het
Olfm2 C T 9: 20,672,180 V203M probably damaging Het
Olfr166 T G 16: 19,487,261 L141R probably benign Het
Olfr876 A T 9: 37,804,595 H228L possibly damaging Het
Pf4 A G 5: 90,773,255 S105G probably damaging Het
Phlpp2 T A 8: 109,904,408 I228N probably damaging Het
Sall1 T G 8: 89,032,568 S303R probably damaging Het
Setd5 A G 6: 113,117,580 E486G probably damaging Het
Slc9a5 C T 8: 105,349,443 P23S probably damaging Het
Tbc1d9b T A 11: 50,149,826 I390N probably damaging Het
Trp53 T C 11: 69,588,503 V169A probably damaging Het
Usp4 A G 9: 108,384,932 D791G probably damaging Het
Vmn1r76 A G 7: 11,930,490 S266P possibly damaging Het
Vmn2r27 A G 6: 124,197,349 probably benign Het
Xirp1 C T 9: 120,016,997 G940E probably damaging Het
Zfp407 A T 18: 84,562,720 C89* probably null Het
Other mutations in Lrrc17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01098:Lrrc17 APN 5 21575271 missense probably benign 0.05
IGL01289:Lrrc17 APN 5 21560901 missense probably damaging 1.00
IGL01549:Lrrc17 APN 5 21570290 missense probably benign 0.00
IGL02371:Lrrc17 APN 5 21560996 missense probably damaging 1.00
IGL02412:Lrrc17 APN 5 21560879 missense possibly damaging 0.68
IGL02587:Lrrc17 APN 5 21561080 missense probably damaging 1.00
R0255:Lrrc17 UTSW 5 21560969 missense probably benign 0.09
R0504:Lrrc17 UTSW 5 21560530 missense probably benign 0.05
R0883:Lrrc17 UTSW 5 21561278 missense probably benign 0.06
R1875:Lrrc17 UTSW 5 21560652 missense possibly damaging 0.85
R2168:Lrrc17 UTSW 5 21575048 missense probably damaging 0.97
R5057:Lrrc17 UTSW 5 21575309 missense probably benign 0.25
R5326:Lrrc17 UTSW 5 21575158 missense probably damaging 0.99
R5542:Lrrc17 UTSW 5 21575158 missense probably damaging 0.99
R5574:Lrrc17 UTSW 5 21570357 missense possibly damaging 0.90
R5872:Lrrc17 UTSW 5 21575266 missense probably benign 0.01
R7108:Lrrc17 UTSW 5 21575339 missense possibly damaging 0.93
R7715:Lrrc17 UTSW 5 21561080 missense probably damaging 1.00
R7766:Lrrc17 UTSW 5 21561044 missense probably benign 0.03
X0026:Lrrc17 UTSW 5 21561020 missense probably damaging 1.00
Posted On2015-04-16