Incidental Mutation 'IGL02398:Lrrc9'
ID291770
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc9
Ensembl Gene ENSMUSG00000021090
Gene Nameleucine rich repeat containing 9
Synonyms4930432K16Rik, 4921529O18Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.236) question?
Stock #IGL02398
Quality Score
Status
Chromosome12
Chromosomal Location72441866-72530750 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 72466903 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 513 (M513L)
Ref Sequence ENSEMBL: ENSMUSP00000152125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000161284] [ENSMUST00000162159] [ENSMUST00000221360]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161195
Predicted Effect probably benign
Transcript: ENSMUST00000161284
AA Change: M513L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124602
Gene: ENSMUSG00000021090
AA Change: M513L

DomainStartEndE-ValueType
Pfam:LRR_4 77 118 2.8e-11 PFAM
LRR 119 140 8.49e1 SMART
LRR 141 164 2.27e1 SMART
LRR 165 187 2.09e2 SMART
LRRcap 210 228 6.12e1 SMART
low complexity region 373 384 N/A INTRINSIC
low complexity region 424 436 N/A INTRINSIC
LRR 706 727 1.41e2 SMART
LRR 728 749 6.78e1 SMART
LRR 750 773 7.17e1 SMART
LRRcap 793 811 2.26e2 SMART
LRR 943 966 2.67e-1 SMART
LRR 967 992 1.22e1 SMART
LRRcap 1031 1049 4.37e0 SMART
low complexity region 1109 1120 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161957
Predicted Effect probably benign
Transcript: ENSMUST00000162159
AA Change: M512L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124394
Gene: ENSMUSG00000021090
AA Change: M512L

DomainStartEndE-ValueType
LRR 53 74 5.39e2 SMART
LRR 75 96 1.14e2 SMART
LRR 97 118 7.9e-4 SMART
LRR 119 140 2.75e-3 SMART
LRR 141 164 2.27e1 SMART
LRR 164 185 1.87e1 SMART
LRRcap 210 228 6.12e1 SMART
low complexity region 373 384 N/A INTRINSIC
low complexity region 424 436 N/A INTRINSIC
LRR 705 726 1.41e2 SMART
LRR 727 748 6.78e1 SMART
LRR 749 771 1.37e1 SMART
LRRcap 792 810 2.26e2 SMART
LRR 898 919 2.62e1 SMART
LRR 920 941 5.17e1 SMART
LRR 942 965 2.67e-1 SMART
LRR 966 991 1.22e1 SMART
LRR 1013 1032 4.42e2 SMART
LRRcap 1030 1048 4.37e0 SMART
low complexity region 1108 1119 N/A INTRINSIC
LRR 1128 1150 2.4e1 SMART
LRR 1191 1209 5.7e2 SMART
LRR 1215 1236 1.03e-2 SMART
LRR 1237 1260 8.48e0 SMART
LRR 1283 1304 2.67e-1 SMART
Blast:LRR 1308 1333 4e-6 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162179
Predicted Effect probably benign
Transcript: ENSMUST00000221360
AA Change: M513L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,402,824 C160* probably null Het
Alkbh8 C T 9: 3,345,870 P197S possibly damaging Het
Ankef1 A C 2: 136,555,782 N761T probably damaging Het
Ankrd7 A G 6: 18,866,697 Y72C probably damaging Het
Cfap36 T G 11: 29,222,833 M231L probably benign Het
Cog7 A G 7: 121,964,209 C227R probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cspg4 A T 9: 56,886,686 E568D probably benign Het
Cwc27 G A 13: 104,804,254 T199I possibly damaging Het
Cyp26a1 A G 19: 37,700,019 I330V probably benign Het
Dcaf7 T C 11: 106,053,753 V254A probably benign Het
Dhrs7 G A 12: 72,664,692 R24C probably damaging Het
Ehmt2 T A 17: 34,908,479 C838S probably damaging Het
Fn1 A T 1: 71,618,670 probably null Het
Gjb3 T A 4: 127,326,062 S226C probably benign Het
Gm14496 A G 2: 181,996,170 I346V probably benign Het
Gm5926 A G X: 32,651,386 D224G probably damaging Het
Gm8050 T C 14: 6,717,330 E172G probably damaging Het
Higd1a G A 9: 121,852,524 R22W probably damaging Het
Hmcn1 A G 1: 150,802,897 L491S possibly damaging Het
Igsf9b T C 9: 27,333,130 S794P possibly damaging Het
Irgm2 A T 11: 58,219,929 I161F probably damaging Het
Lrp8 G T 4: 107,847,494 V304F probably damaging Het
Lrp8 C A 4: 107,869,048 S850R probably damaging Het
Myo18b A T 5: 112,830,312 V1248E possibly damaging Het
Myo1b A T 1: 51,757,891 N945K probably damaging Het
Nipbl A G 15: 8,327,090 L1604P probably damaging Het
Oas1f A T 5: 120,851,505 Y169F probably benign Het
Ogfod3 G A 11: 121,203,025 T53I probably benign Het
Olfr1054 A T 2: 86,332,524 Y277* probably null Het
Olfr444 A T 6: 42,956,112 I205F probably benign Het
Olfr584 G A 7: 103,086,106 C191Y probably damaging Het
Parp8 A G 13: 116,910,863 probably null Het
Pde4dip T C 3: 97,766,781 Y273C probably benign Het
Pgbd5 C T 8: 124,384,518 A54T probably damaging Het
Pglyrp4 G A 3: 90,739,117 probably benign Het
Piezo1 A T 8: 122,486,563 S1819R probably benign Het
Polr1a T C 6: 71,936,556 probably benign Het
Polr1b A G 2: 129,102,966 I61V probably benign Het
Prlhr G T 19: 60,467,315 A271E probably damaging Het
Rad23b C T 4: 55,350,360 probably benign Het
Rad51ap1 A T 6: 126,928,151 S132R probably damaging Het
Ros1 T A 10: 52,144,884 probably benign Het
Ryr3 T C 2: 112,847,422 D1327G probably benign Het
Slit1 A C 19: 41,602,237 V1332G probably damaging Het
Tmem178b A G 6: 40,207,527 M120V probably damaging Het
Trim25 T C 11: 88,999,804 C106R probably damaging Het
Trim35 A G 14: 66,309,248 Y488C probably damaging Het
Tsc2 A T 17: 24,621,729 H326Q probably damaging Het
Yap1 A T 9: 7,950,535 I315K probably benign Het
Zfp654 A G 16: 64,786,018 V607A probably benign Het
Other mutations in Lrrc9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Lrrc9 APN 12 72486243 missense possibly damaging 0.63
IGL00843:Lrrc9 APN 12 72463417 missense possibly damaging 0.78
IGL01923:Lrrc9 APN 12 72510412 missense possibly damaging 0.93
IGL02027:Lrrc9 APN 12 72470334 splice site probably benign
IGL02271:Lrrc9 APN 12 72510381 missense probably benign 0.06
IGL02795:Lrrc9 APN 12 72478768 missense probably damaging 1.00
IGL02931:Lrrc9 APN 12 72454149 missense probably damaging 1.00
IGL03257:Lrrc9 APN 12 72449768 missense probably benign
IGL02799:Lrrc9 UTSW 12 72506404 missense probably damaging 1.00
R0172:Lrrc9 UTSW 12 72463486 missense possibly damaging 0.50
R0315:Lrrc9 UTSW 12 72456028 missense probably damaging 0.96
R0492:Lrrc9 UTSW 12 72478763 missense possibly damaging 0.47
R0617:Lrrc9 UTSW 12 72483014 missense probably damaging 1.00
R0639:Lrrc9 UTSW 12 72486288 missense probably damaging 1.00
R0987:Lrrc9 UTSW 12 72510382 missense probably benign 0.00
R1325:Lrrc9 UTSW 12 72497104 missense probably damaging 0.99
R1465:Lrrc9 UTSW 12 72500759 missense probably benign 0.05
R1465:Lrrc9 UTSW 12 72500759 missense probably benign 0.05
R1479:Lrrc9 UTSW 12 72460825 nonsense probably null
R1564:Lrrc9 UTSW 12 72487053 missense probably damaging 1.00
R1626:Lrrc9 UTSW 12 72495661 unclassified probably null
R1632:Lrrc9 UTSW 12 72460020 splice site probably null
R1715:Lrrc9 UTSW 12 72477299 missense probably damaging 1.00
R1743:Lrrc9 UTSW 12 72456117 missense probably damaging 1.00
R1779:Lrrc9 UTSW 12 72455998 nonsense probably null
R1866:Lrrc9 UTSW 12 72497138 missense probably damaging 0.97
R1878:Lrrc9 UTSW 12 72476164 critical splice donor site probably null
R1990:Lrrc9 UTSW 12 72497861 missense probably damaging 0.99
R2361:Lrrc9 UTSW 12 72463470 missense possibly damaging 0.52
R3752:Lrrc9 UTSW 12 72460806 nonsense probably null
R3833:Lrrc9 UTSW 12 72482991 missense probably damaging 1.00
R4134:Lrrc9 UTSW 12 72466966 missense probably benign 0.00
R4651:Lrrc9 UTSW 12 72477386 missense probably damaging 1.00
R4652:Lrrc9 UTSW 12 72477386 missense probably damaging 1.00
R4659:Lrrc9 UTSW 12 72470264 missense probably damaging 1.00
R4831:Lrrc9 UTSW 12 72499679 missense probably damaging 1.00
R4857:Lrrc9 UTSW 12 72499692 missense possibly damaging 0.94
R5017:Lrrc9 UTSW 12 72506325 missense possibly damaging 0.86
R5163:Lrrc9 UTSW 12 72449389 missense probably damaging 1.00
R5279:Lrrc9 UTSW 12 72495594 missense possibly damaging 0.80
R5434:Lrrc9 UTSW 12 72454088 missense probably damaging 0.98
R5783:Lrrc9 UTSW 12 72456053 missense possibly damaging 0.62
R6021:Lrrc9 UTSW 12 72469231 missense probably damaging 0.97
R6214:Lrrc9 UTSW 12 72459853 missense probably damaging 1.00
R6255:Lrrc9 UTSW 12 72487023 missense probably benign 0.33
R6538:Lrrc9 UTSW 12 72500929 missense probably benign 0.08
R6563:Lrrc9 UTSW 12 72486395 splice site probably null
R6672:Lrrc9 UTSW 12 72473936 missense possibly damaging 0.88
R6919:Lrrc9 UTSW 12 72506393 missense probably benign 0.01
R6929:Lrrc9 UTSW 12 72450772 missense probably benign 0.41
R7092:Lrrc9 UTSW 12 72463464 missense possibly damaging 0.81
R7150:Lrrc9 UTSW 12 72466952 missense probably benign 0.00
R7338:Lrrc9 UTSW 12 72463531 intron probably null
R7398:Lrrc9 UTSW 12 72500816 missense probably damaging 0.98
R7477:Lrrc9 UTSW 12 72503527 critical splice donor site probably null
R7501:Lrrc9 UTSW 12 72449716 missense probably damaging 1.00
R7542:Lrrc9 UTSW 12 72506320 missense probably damaging 0.96
R7816:Lrrc9 UTSW 12 72495692 missense probably damaging 1.00
X0025:Lrrc9 UTSW 12 72497060 missense probably damaging 1.00
Posted On2015-04-16