Incidental Mutation 'IGL02719:Lilra6'
ID 304882
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lilra6
Ensembl Gene ENSMUSG00000030427
Gene Name leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6
Synonyms Pira3, 7M1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock # IGL02719
Quality Score
Status
Chromosome 7
Chromosomal Location 3908280-3915503 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3912992 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 289 (H289Q)
Ref Sequence ENSEMBL: ENSMUSP00000042636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038176] [ENSMUST00000090689] [ENSMUST00000206077]
AlphaFold A0A0B4J1F3
Predicted Effect possibly damaging
Transcript: ENSMUST00000038176
AA Change: H289Q

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000042636
Gene: ENSMUSG00000030427
AA Change: H289Q

DomainStartEndE-ValueType
low complexity region 8 17 N/A INTRINSIC
IG_like 40 105 3.11e0 SMART
IG 129 315 4.53e-2 SMART
IG_like 237 302 1.54e-1 SMART
IG_like 328 415 1.79e1 SMART
IG_like 429 517 2.66e1 SMART
IG 529 618 8.59e-3 SMART
low complexity region 637 646 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000090689
SMART Domains Protein: ENSMUSP00000088188
Gene: ENSMUSG00000030427

DomainStartEndE-ValueType
low complexity region 8 17 N/A INTRINSIC
IG_like 34 118 7.25e0 SMART
IG_like 129 220 1.62e2 SMART
IG_like 290 377 1.79e1 SMART
IG_like 391 479 2.66e1 SMART
IG 491 580 8.59e-3 SMART
low complexity region 599 608 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131255
Predicted Effect possibly damaging
Transcript: ENSMUST00000206077
AA Change: H48Q

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206851
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A G 5: 3,582,150 D160G probably damaging Het
Aak1 A G 6: 86,959,170 probably benign Het
Anp32e A G 3: 95,937,912 probably benign Het
Aspscr1 T A 11: 120,677,579 L61Q probably damaging Het
Btrc A G 19: 45,503,150 I89M probably damaging Het
Ccdc175 G A 12: 72,175,125 T141M probably damaging Het
Cep70 G A 9: 99,275,722 V225I probably damaging Het
Col4a1 T C 8: 11,231,950 probably benign Het
Cpne1 T C 2: 156,078,217 Y214C probably damaging Het
Crtc3 T C 7: 80,618,658 probably null Het
Cul2 C T 18: 3,434,052 A683V probably damaging Het
Ddx47 A G 6: 135,017,151 N131D probably benign Het
Dnah7b T G 1: 46,099,608 probably benign Het
Dnaic2 T C 11: 114,751,911 L446P probably damaging Het
Ergic2 T C 6: 148,204,819 T58A possibly damaging Het
Erlin2 A G 8: 27,029,675 probably benign Het
Fermt2 T C 14: 45,504,656 T78A probably damaging Het
Flg2 G T 3: 93,220,131 G97* probably null Het
Gm7356 A G 17: 14,001,275 I164T probably damaging Het
Gucy1a2 T A 9: 3,894,719 probably benign Het
Heatr5b C T 17: 78,815,540 R670H probably damaging Het
Hspa4l T C 3: 40,772,658 V476A possibly damaging Het
Ick A G 9: 78,140,019 E67G probably damaging Het
Itpkc A T 7: 27,228,050 D146E possibly damaging Het
Kcnk3 T C 5: 30,621,980 F125L probably damaging Het
Kif12 T A 4: 63,167,796 M411L probably benign Het
Krtap24-1 T C 16: 88,612,206 S11G probably benign Het
Musk A C 4: 58,356,496 N469H probably benign Het
Myom1 A G 17: 71,106,354 probably benign Het
Nagpa A G 16: 5,201,493 V46A possibly damaging Het
Olfr1281 T A 2: 111,329,245 Y275* probably null Het
Olfr146 T C 9: 39,019,016 N175S probably benign Het
Olfr193 T A 16: 59,110,173 T146S probably benign Het
Parp6 T A 9: 59,630,738 V222E probably benign Het
Pde3b T A 7: 114,506,248 S472T probably damaging Het
Peak1 A G 9: 56,227,206 S1314P probably damaging Het
Pgc A G 17: 47,728,867 Y62C probably damaging Het
Pitpnm2 A G 5: 124,140,602 C189R probably damaging Het
Pla2g15 G T 8: 106,160,196 Q106H probably benign Het
Pla2g4c T A 7: 13,330,094 S93T probably damaging Het
Rbks G T 5: 31,651,801 probably benign Het
Retsat A G 6: 72,603,659 T207A possibly damaging Het
Slc25a32 A G 15: 39,099,905 Y174H probably benign Het
Slc35f2 T A 9: 53,809,742 probably benign Het
Snx19 A G 9: 30,432,260 N572S possibly damaging Het
Sos2 A G 12: 69,617,184 Y476H probably benign Het
Ssh2 A T 11: 77,425,587 N296I probably damaging Het
Sspo G T 6: 48,482,667 R3320L probably benign Het
Synj2 A G 17: 5,996,917 I166V probably benign Het
Tpp2 T C 1: 43,940,231 V96A probably benign Het
Vmn2r3 A T 3: 64,275,610 W223R probably damaging Het
Wdr17 T C 8: 54,693,054 probably null Het
Zfr2 T A 10: 81,244,712 C407S probably damaging Het
Other mutations in Lilra6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Lilra6 APN 7 3911554 missense probably benign 0.04
IGL00569:Lilra6 APN 7 3914589 missense probably damaging 0.99
IGL00899:Lilra6 APN 7 3913057 missense probably damaging 1.00
IGL00955:Lilra6 APN 7 3911404 splice site probably benign
IGL01585:Lilra6 APN 7 3914499 missense probably benign 0.01
IGL02195:Lilra6 APN 7 3914550 missense probably benign 0.00
IGL02586:Lilra6 APN 7 3908820 missense probably benign 0.36
IGL03166:Lilra6 APN 7 3912627 missense possibly damaging 0.69
IGL03329:Lilra6 APN 7 3914648 splice site probably benign
R0233:Lilra6 UTSW 7 3914936 missense possibly damaging 0.69
R0233:Lilra6 UTSW 7 3914936 missense possibly damaging 0.69
R0423:Lilra6 UTSW 7 3914775 splice site probably benign
R0483:Lilra6 UTSW 7 3913139 missense probably benign 0.02
R0511:Lilra6 UTSW 7 3912785 missense possibly damaging 0.77
R1472:Lilra6 UTSW 7 3912719 missense probably damaging 1.00
R1560:Lilra6 UTSW 7 3911408 critical splice donor site probably null
R1584:Lilra6 UTSW 7 3912662 missense probably damaging 1.00
R1781:Lilra6 UTSW 7 3915067 missense probably benign 0.28
R2411:Lilra6 UTSW 7 3911454 missense probably damaging 1.00
R2420:Lilra6 UTSW 7 3914858 missense probably damaging 1.00
R4021:Lilra6 UTSW 7 3911418 missense probably benign 0.20
R4074:Lilra6 UTSW 7 3914890 missense probably benign 0.23
R4284:Lilra6 UTSW 7 3908804 missense possibly damaging 0.76
R4508:Lilra6 UTSW 7 3912029 nonsense probably null
R4894:Lilra6 UTSW 7 3912531 missense probably benign 0.01
R4977:Lilra6 UTSW 7 3914383 missense probably benign 0.01
R5048:Lilra6 UTSW 7 3915441 critical splice donor site probably null
R5164:Lilra6 UTSW 7 3914881 missense probably damaging 1.00
R5185:Lilra6 UTSW 7 3914636 missense probably benign 0.00
R5527:Lilra6 UTSW 7 3914587 start gained probably benign
R6281:Lilra6 UTSW 7 3911973 missense probably damaging 1.00
R6480:Lilra6 UTSW 7 3912933 missense probably damaging 1.00
R6512:Lilra6 UTSW 7 3914388 missense probably benign 0.06
R6565:Lilra6 UTSW 7 3915020 missense probably benign
R7017:Lilra6 UTSW 7 3908708 missense possibly damaging 0.93
R7095:Lilra6 UTSW 7 3913197 missense probably damaging 1.00
R7747:Lilra6 UTSW 7 3912996 missense probably benign 0.16
R8056:Lilra6 UTSW 7 3912552 missense probably damaging 1.00
R8280:Lilra6 UTSW 7 3913047 missense probably benign 0.01
R9197:Lilra6 UTSW 7 3912717 missense possibly damaging 0.94
R9354:Lilra6 UTSW 7 3911629 missense probably damaging 1.00
R9379:Lilra6 UTSW 7 3913167 missense probably damaging 1.00
R9406:Lilra6 UTSW 7 3914854 missense probably benign
Z1176:Lilra6 UTSW 7 3915074 critical splice acceptor site probably null
Z1177:Lilra6 UTSW 7 3912581 missense possibly damaging 0.48
Posted On 2015-04-16