Incidental Mutation 'R0323:Lrriq1'
ID 25666
Institutional Source Beutler Lab
Gene Symbol Lrriq1
Ensembl Gene ENSMUSG00000019892
Gene Name leucine-rich repeats and IQ motif containing 1
Synonyms Gm1557, LOC380658, 4930503E15Rik
MMRRC Submission 038533-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R0323 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 102881892-103072183 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103057150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 217 (C217S)
Ref Sequence ENSEMBL: ENSMUSP00000131419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020043] [ENSMUST00000123364] [ENSMUST00000166240]
AlphaFold Q0P5X1
Predicted Effect possibly damaging
Transcript: ENSMUST00000020043
AA Change: C217S

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020043
Gene: ENSMUSG00000019892
AA Change: C217S

DomainStartEndE-ValueType
coiled coil region 11 31 N/A INTRINSIC
low complexity region 35 48 N/A INTRINSIC
coiled coil region 183 286 N/A INTRINSIC
Blast:IQ 290 312 1e-6 BLAST
coiled coil region 314 390 N/A INTRINSIC
low complexity region 550 559 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000123364
AA Change: C217S

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119783
Gene: ENSMUSG00000019892
AA Change: C217S

DomainStartEndE-ValueType
coiled coil region 11 31 N/A INTRINSIC
low complexity region 35 48 N/A INTRINSIC
coiled coil region 183 286 N/A INTRINSIC
Blast:IQ 290 312 6e-6 BLAST
coiled coil region 314 390 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000166240
AA Change: C217S

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131419
Gene: ENSMUSG00000019892
AA Change: C217S

DomainStartEndE-ValueType
coiled coil region 11 31 N/A INTRINSIC
low complexity region 35 48 N/A INTRINSIC
coiled coil region 183 286 N/A INTRINSIC
IQ 290 312 9.78e1 SMART
coiled coil region 314 390 N/A INTRINSIC
low complexity region 550 559 N/A INTRINSIC
LRR 873 894 2.14e1 SMART
LRR 895 917 4.45e1 SMART
LRR 984 1005 2.03e2 SMART
LRR 1029 1052 3.65e0 SMART
low complexity region 1244 1258 N/A INTRINSIC
IQ 1279 1301 5.61e1 SMART
IQ 1339 1361 6.7e-3 SMART
low complexity region 1369 1394 N/A INTRINSIC
low complexity region 1502 1518 N/A INTRINSIC
low complexity region 1528 1543 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 94.2%
  • 20x: 86.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,446,674 (GRCm39) T816S possibly damaging Het
4930527J03Rik ACCC ACC 1: 178,276,503 (GRCm38) noncoding transcript Het
4931429P17Rik A C 13: 48,114,493 (GRCm39) noncoding transcript Het
Abca13 A C 11: 9,244,701 (GRCm39) D2188A probably benign Het
Accsl T A 2: 93,691,425 (GRCm39) Q351L probably benign Het
Acot6 A C 12: 84,155,953 (GRCm39) E300D probably benign Het
Adgre1 T A 17: 57,751,060 (GRCm39) I578N probably benign Het
Agbl4 T C 4: 111,474,419 (GRCm39) S403P probably damaging Het
Agps T A 2: 75,724,505 (GRCm39) Y506* probably null Het
Appl1 A T 14: 26,664,695 (GRCm39) V446D possibly damaging Het
Arcn1 A T 9: 44,670,356 (GRCm39) I90N probably damaging Het
Aspscr1 G A 11: 120,569,246 (GRCm39) V15I probably damaging Het
Asxl2 A G 12: 3,492,487 (GRCm39) Y24C probably damaging Het
Atp8b1 A G 18: 64,701,323 (GRCm39) F345S possibly damaging Het
Barx1 A G 13: 48,819,430 (GRCm39) T243A probably benign Het
Bltp1 T A 3: 36,997,331 (GRCm39) C1129* probably null Het
Bmp2k A G 5: 97,235,682 (GRCm39) probably benign Het
Cacul1 A G 19: 60,531,498 (GRCm39) I257T probably benign Het
Chml A T 1: 175,514,650 (GRCm39) F424I probably benign Het
Clcn1 A T 6: 42,287,074 (GRCm39) E710D probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cylc2 T A 4: 51,228,477 (GRCm39) S183T unknown Het
Dhtkd1 T A 2: 5,919,699 (GRCm39) M561L probably benign Het
Dnajc13 A G 9: 104,034,091 (GRCm39) S2188P probably damaging Het
Dyrk1b C A 7: 27,884,781 (GRCm39) Q399K probably benign Het
Erc1 T C 6: 119,597,289 (GRCm39) K1003E probably damaging Het
Ezr G A 17: 7,022,164 (GRCm39) Q105* probably null Het
Fam83d T A 2: 158,627,467 (GRCm39) D385E probably benign Het
Fbn2 A G 18: 58,178,389 (GRCm39) C1950R probably damaging Het
Fbxo32 A T 15: 58,047,605 (GRCm39) I236N probably damaging Het
Fcgr1 T C 3: 96,193,145 (GRCm39) E284G possibly damaging Het
Foxe3 T C 4: 114,782,805 (GRCm39) N136D probably damaging Het
Fscn2 A T 11: 120,258,837 (GRCm39) I461F probably damaging Het
Fsip2 T C 2: 82,816,240 (GRCm39) I3991T probably benign Het
Galnt15 A T 14: 31,770,042 (GRCm39) H249L probably damaging Het
Gm10803 T A 2: 93,394,415 (GRCm39) Y62* probably null Het
Gm20730 G A 6: 43,058,449 (GRCm39) probably null Het
Gm4841 A G 18: 60,403,718 (GRCm39) L125S possibly damaging Het
Gmpr2 A G 14: 55,910,203 (GRCm39) D11G probably damaging Het
Gucy1b1 T A 3: 81,945,463 (GRCm39) probably null Het
Hhla1 C A 15: 65,820,352 (GRCm39) V133F probably benign Het
Hscb T C 5: 110,982,556 (GRCm39) E177G possibly damaging Het
Hyal4 A T 6: 24,756,193 (GRCm39) N137I probably benign Het
Lcp2 A G 11: 34,004,322 (GRCm39) D53G probably damaging Het
Ldb3 G A 14: 34,266,002 (GRCm39) T531I probably damaging Het
Llgl2 A G 11: 115,741,546 (GRCm39) K559E probably damaging Het
Loxhd1 A G 18: 77,456,833 (GRCm39) I499V probably benign Het
Lrp2 T C 2: 69,299,983 (GRCm39) Y3023C probably damaging Het
Lrrc59 A C 11: 94,534,248 (GRCm39) T269P probably damaging Het
Mmrn2 A T 14: 34,119,991 (GRCm39) Q287L probably damaging Het
Mplkip A G 13: 17,871,565 (GRCm39) I159V possibly damaging Het
Napg C T 18: 63,120,034 (GRCm39) R149C probably damaging Het
Nrxn1 A C 17: 91,008,170 (GRCm39) probably null Het
Or10ag60 G A 2: 87,437,841 (GRCm39) M36I probably benign Het
Or1e17 A T 11: 73,831,773 (GRCm39) I234F probably benign Het
Or6c70 T A 10: 129,709,936 (GRCm39) Q230L probably damaging Het
Or6d15 A T 6: 116,559,562 (GRCm39) V115E probably damaging Het
Or6n2 A G 1: 173,896,893 (GRCm39) T10A probably benign Het
Orc4 A T 2: 48,827,479 (GRCm39) V38E possibly damaging Het
Palm3 T A 8: 84,755,349 (GRCm39) V287D probably damaging Het
Pde11a C T 2: 75,877,118 (GRCm39) probably null Het
Pdss2 T A 10: 43,248,172 (GRCm39) H225Q probably benign Het
Pkhd1 A T 1: 20,345,762 (GRCm39) D2755E probably benign Het
Pla2g5 C T 4: 138,527,967 (GRCm39) D100N probably benign Het
Polrmt T C 10: 79,577,832 (GRCm39) T287A probably benign Het
Ppfia2 A G 10: 106,732,281 (GRCm39) I943V possibly damaging Het
Pth2r A C 1: 65,427,775 (GRCm39) I483L probably benign Het
Qrsl1 A G 10: 43,772,003 (GRCm39) probably null Het
Ralgapa1 A T 12: 55,724,023 (GRCm39) I1548N probably damaging Het
Scn9a T C 2: 66,398,475 (GRCm39) E45G probably damaging Het
Sf3b1 T C 1: 55,058,416 (GRCm39) I58V probably damaging Het
Sh3d19 T A 3: 86,033,978 (GRCm39) M777K probably benign Het
Shc1 T C 3: 89,331,020 (GRCm39) L106P probably damaging Het
Skint5 T C 4: 113,794,818 (GRCm39) H255R probably benign Het
Slc28a3 C A 13: 58,711,866 (GRCm39) G487* probably null Het
Slc49a4 ACC AC 16: 35,539,730 (GRCm39) probably null Het
Slfn4 A T 11: 83,077,777 (GRCm39) R188S probably damaging Het
Slitrk5 A G 14: 111,919,055 (GRCm39) D893G probably damaging Het
Spta1 A G 1: 174,046,017 (GRCm39) T1594A probably damaging Het
Srarp G A 4: 141,160,690 (GRCm39) Q48* probably null Het
Srf T C 17: 46,860,415 (GRCm39) T456A possibly damaging Het
Stx2 C T 5: 129,065,967 (GRCm39) V230I probably benign Het
Tenm4 C A 7: 96,344,157 (GRCm39) P250Q possibly damaging Het
Tnrc6c A G 11: 117,630,707 (GRCm39) K1023E probably damaging Het
Trpc6 A T 9: 8,610,276 (GRCm39) H248L probably damaging Het
Trpc6 A G 9: 8,643,537 (GRCm39) K441E probably damaging Het
Uty T A Y: 1,169,979 (GRCm39) I326F probably damaging Het
Vmn1r63 A G 7: 5,806,335 (GRCm39) V99A probably benign Het
Wnt11 A G 7: 98,496,590 (GRCm39) K177E probably damaging Het
Wwc1 T A 11: 35,743,175 (GRCm39) E882V probably damaging Het
Zfhx2 C A 14: 55,303,436 (GRCm39) S1516I possibly damaging Het
Zmpste24 A G 4: 120,940,050 (GRCm39) Y199H probably damaging Het
Other mutations in Lrriq1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00988:Lrriq1 APN 10 102,997,757 (GRCm39) missense probably damaging 0.99
IGL01523:Lrriq1 APN 10 103,053,977 (GRCm39) nonsense probably null
IGL01637:Lrriq1 APN 10 103,051,489 (GRCm39) missense probably benign
IGL02019:Lrriq1 APN 10 103,014,661 (GRCm39) missense probably benign 0.02
IGL02153:Lrriq1 APN 10 103,006,340 (GRCm39) missense probably benign 0.01
IGL02341:Lrriq1 APN 10 103,060,802 (GRCm39) missense probably benign 0.03
IGL02343:Lrriq1 APN 10 103,070,024 (GRCm39) splice site probably benign
IGL02408:Lrriq1 APN 10 102,982,142 (GRCm39) missense probably benign 0.17
IGL02431:Lrriq1 APN 10 103,036,500 (GRCm39) missense probably damaging 1.00
IGL02540:Lrriq1 APN 10 103,050,880 (GRCm39) missense probably benign 0.02
IGL02558:Lrriq1 APN 10 102,982,144 (GRCm39) missense probably damaging 1.00
IGL02613:Lrriq1 APN 10 102,980,409 (GRCm39) missense probably damaging 0.99
IGL02642:Lrriq1 APN 10 103,057,322 (GRCm39) critical splice acceptor site probably null
IGL03027:Lrriq1 APN 10 103,063,057 (GRCm39) missense probably benign 0.35
PIT4362001:Lrriq1 UTSW 10 102,907,055 (GRCm39) missense probably benign 0.26
R0050:Lrriq1 UTSW 10 102,904,792 (GRCm39) missense probably damaging 0.99
R0050:Lrriq1 UTSW 10 102,904,792 (GRCm39) missense probably damaging 0.99
R0068:Lrriq1 UTSW 10 102,899,279 (GRCm39) missense probably benign 0.02
R0068:Lrriq1 UTSW 10 102,899,279 (GRCm39) missense probably benign 0.02
R0124:Lrriq1 UTSW 10 103,006,281 (GRCm39) critical splice donor site probably null
R0244:Lrriq1 UTSW 10 103,051,634 (GRCm39) missense probably damaging 0.98
R0515:Lrriq1 UTSW 10 102,904,829 (GRCm39) splice site probably null
R0522:Lrriq1 UTSW 10 102,997,638 (GRCm39) missense probably damaging 0.99
R0701:Lrriq1 UTSW 10 103,069,905 (GRCm39) missense probably benign
R1220:Lrriq1 UTSW 10 102,906,990 (GRCm39) missense probably benign 0.05
R1261:Lrriq1 UTSW 10 103,069,998 (GRCm39) missense possibly damaging 0.87
R1262:Lrriq1 UTSW 10 103,069,998 (GRCm39) missense possibly damaging 0.87
R1451:Lrriq1 UTSW 10 103,038,376 (GRCm39) splice site probably benign
R1642:Lrriq1 UTSW 10 103,050,317 (GRCm39) missense probably benign 0.13
R1643:Lrriq1 UTSW 10 103,050,685 (GRCm39) missense probably benign 0.00
R1647:Lrriq1 UTSW 10 103,006,509 (GRCm39) nonsense probably null
R1830:Lrriq1 UTSW 10 102,997,620 (GRCm39) missense probably benign
R1843:Lrriq1 UTSW 10 103,063,034 (GRCm39) splice site probably null
R2128:Lrriq1 UTSW 10 103,050,718 (GRCm39) missense probably benign 0.01
R2129:Lrriq1 UTSW 10 103,050,718 (GRCm39) missense probably benign 0.01
R2199:Lrriq1 UTSW 10 102,904,774 (GRCm39) missense probably damaging 1.00
R2354:Lrriq1 UTSW 10 103,025,848 (GRCm39) missense probably damaging 1.00
R2495:Lrriq1 UTSW 10 103,038,242 (GRCm39) missense probably damaging 0.97
R2897:Lrriq1 UTSW 10 103,063,111 (GRCm39) missense probably damaging 0.99
R2898:Lrriq1 UTSW 10 103,063,111 (GRCm39) missense probably damaging 0.99
R2922:Lrriq1 UTSW 10 103,050,536 (GRCm39) missense probably benign 0.00
R2939:Lrriq1 UTSW 10 102,980,750 (GRCm39) missense probably damaging 0.98
R2965:Lrriq1 UTSW 10 103,050,761 (GRCm39) missense probably benign 0.07
R2966:Lrriq1 UTSW 10 103,050,761 (GRCm39) missense probably benign 0.07
R3081:Lrriq1 UTSW 10 102,980,750 (GRCm39) missense probably damaging 0.98
R3115:Lrriq1 UTSW 10 103,006,294 (GRCm39) missense probably benign 0.00
R3745:Lrriq1 UTSW 10 103,006,717 (GRCm39) missense probably damaging 0.99
R3813:Lrriq1 UTSW 10 103,051,972 (GRCm39) missense probably damaging 1.00
R3814:Lrriq1 UTSW 10 103,051,972 (GRCm39) missense probably damaging 1.00
R3885:Lrriq1 UTSW 10 103,051,967 (GRCm39) missense probably damaging 0.96
R4378:Lrriq1 UTSW 10 103,038,225 (GRCm39) missense probably damaging 1.00
R4632:Lrriq1 UTSW 10 103,057,288 (GRCm39) missense probably damaging 1.00
R4633:Lrriq1 UTSW 10 103,036,424 (GRCm39) nonsense probably null
R4663:Lrriq1 UTSW 10 102,899,273 (GRCm39) missense possibly damaging 0.88
R4702:Lrriq1 UTSW 10 103,051,610 (GRCm39) missense possibly damaging 0.65
R4793:Lrriq1 UTSW 10 103,006,327 (GRCm39) missense probably benign 0.25
R4801:Lrriq1 UTSW 10 103,057,179 (GRCm39) missense probably benign 0.02
R4802:Lrriq1 UTSW 10 103,057,179 (GRCm39) missense probably benign 0.02
R4815:Lrriq1 UTSW 10 102,980,739 (GRCm39) missense probably benign 0.10
R4872:Lrriq1 UTSW 10 103,014,649 (GRCm39) missense possibly damaging 0.56
R4877:Lrriq1 UTSW 10 103,069,899 (GRCm39) missense possibly damaging 0.88
R4894:Lrriq1 UTSW 10 102,997,613 (GRCm39) missense possibly damaging 0.86
R4990:Lrriq1 UTSW 10 103,036,420 (GRCm39) missense probably damaging 1.00
R4991:Lrriq1 UTSW 10 103,036,420 (GRCm39) missense probably damaging 1.00
R5011:Lrriq1 UTSW 10 103,025,784 (GRCm39) missense probably damaging 1.00
R5013:Lrriq1 UTSW 10 103,025,784 (GRCm39) missense probably damaging 1.00
R5122:Lrriq1 UTSW 10 103,023,314 (GRCm39) missense probably damaging 1.00
R5282:Lrriq1 UTSW 10 103,051,206 (GRCm39) missense probably benign 0.01
R5311:Lrriq1 UTSW 10 103,050,448 (GRCm39) missense probably damaging 1.00
R5567:Lrriq1 UTSW 10 103,006,457 (GRCm39) missense possibly damaging 0.56
R5643:Lrriq1 UTSW 10 103,051,301 (GRCm39) missense probably benign 0.00
R5683:Lrriq1 UTSW 10 103,009,236 (GRCm39) missense probably damaging 1.00
R5916:Lrriq1 UTSW 10 103,057,243 (GRCm39) nonsense probably null
R6008:Lrriq1 UTSW 10 103,006,325 (GRCm39) missense probably damaging 1.00
R6022:Lrriq1 UTSW 10 103,051,395 (GRCm39) missense possibly damaging 0.90
R6224:Lrriq1 UTSW 10 103,051,618 (GRCm39) missense probably damaging 1.00
R6254:Lrriq1 UTSW 10 103,051,312 (GRCm39) missense probably benign 0.15
R6311:Lrriq1 UTSW 10 103,009,254 (GRCm39) missense probably benign 0.03
R6460:Lrriq1 UTSW 10 103,036,559 (GRCm39) missense probably damaging 1.00
R6502:Lrriq1 UTSW 10 103,063,045 (GRCm39) missense probably damaging 0.99
R6637:Lrriq1 UTSW 10 103,057,293 (GRCm39) missense probably benign 0.06
R6719:Lrriq1 UTSW 10 102,906,977 (GRCm39) missense probably damaging 1.00
R6736:Lrriq1 UTSW 10 103,017,750 (GRCm39) critical splice acceptor site probably null
R6928:Lrriq1 UTSW 10 103,050,800 (GRCm39) missense possibly damaging 0.95
R6991:Lrriq1 UTSW 10 103,023,319 (GRCm39) missense probably damaging 1.00
R7174:Lrriq1 UTSW 10 103,060,826 (GRCm39) missense probably benign
R7241:Lrriq1 UTSW 10 103,051,834 (GRCm39) missense probably damaging 1.00
R7248:Lrriq1 UTSW 10 103,059,611 (GRCm39) missense possibly damaging 0.85
R7287:Lrriq1 UTSW 10 103,051,877 (GRCm39) missense probably benign 0.00
R7402:Lrriq1 UTSW 10 103,057,185 (GRCm39) missense possibly damaging 0.87
R7439:Lrriq1 UTSW 10 103,050,380 (GRCm39) missense probably benign 0.21
R7585:Lrriq1 UTSW 10 103,050,807 (GRCm39) missense possibly damaging 0.93
R7611:Lrriq1 UTSW 10 103,036,432 (GRCm39) missense possibly damaging 0.54
R7634:Lrriq1 UTSW 10 103,036,462 (GRCm39) missense probably damaging 1.00
R7767:Lrriq1 UTSW 10 103,051,815 (GRCm39) missense probably damaging 0.99
R7809:Lrriq1 UTSW 10 103,051,678 (GRCm39) missense probably damaging 0.99
R7910:Lrriq1 UTSW 10 103,051,055 (GRCm39) nonsense probably null
R8131:Lrriq1 UTSW 10 103,051,572 (GRCm39) missense possibly damaging 0.57
R8156:Lrriq1 UTSW 10 102,992,196 (GRCm39) critical splice donor site probably null
R8211:Lrriq1 UTSW 10 103,006,408 (GRCm39) missense probably damaging 1.00
R8304:Lrriq1 UTSW 10 103,069,929 (GRCm39) missense possibly damaging 0.57
R8487:Lrriq1 UTSW 10 103,050,914 (GRCm39) missense probably damaging 0.98
R8500:Lrriq1 UTSW 10 102,882,016 (GRCm39) missense
R9013:Lrriq1 UTSW 10 103,050,931 (GRCm39) missense probably damaging 1.00
R9099:Lrriq1 UTSW 10 103,051,864 (GRCm39) missense probably damaging 0.98
R9155:Lrriq1 UTSW 10 103,050,640 (GRCm39) missense probably benign 0.03
R9320:Lrriq1 UTSW 10 103,057,144 (GRCm39) missense probably benign
R9384:Lrriq1 UTSW 10 103,006,458 (GRCm39) missense probably benign 0.00
R9469:Lrriq1 UTSW 10 103,050,761 (GRCm39) missense probably benign 0.07
R9585:Lrriq1 UTSW 10 103,051,250 (GRCm39) missense probably benign
R9706:Lrriq1 UTSW 10 102,881,902 (GRCm39) missense
R9780:Lrriq1 UTSW 10 103,025,824 (GRCm39) missense probably damaging 1.00
X0026:Lrriq1 UTSW 10 103,051,565 (GRCm39) nonsense probably null
Z1088:Lrriq1 UTSW 10 103,038,307 (GRCm39) missense probably damaging 1.00
Z1176:Lrriq1 UTSW 10 103,069,946 (GRCm39) missense probably damaging 0.99
Z1176:Lrriq1 UTSW 10 103,038,221 (GRCm39) missense probably damaging 1.00
Z1176:Lrriq1 UTSW 10 103,038,220 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGCCTCCAGGATCAAGAGTTCAC -3'
(R):5'- CACGCTTGTTTCTCTGAACGAATGC -3'

Sequencing Primer
(F):5'- TGAAGACTTACTCCATGAGCAG -3'
(R):5'- GTTTCTCTGAACGAATGCAGATGAG -3'
Posted On 2013-04-16