Incidental Mutation 'R4872:Lrriq1'
ID 376670
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 042482-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R4872 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 102881892-103072183 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103014649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1053 (N1053S)
Ref Sequence ENSEMBL: ENSMUSP00000131419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166240]
AlphaFold Q0P5X1
Predicted Effect possibly damaging
Transcript: ENSMUST00000166240
AA Change: N1053S

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000131419
Gene: ENSMUSG00000019892
AA Change: N1053S

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 98% (81/83)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 C A 15: 91,075,514 (GRCm39) V100L probably benign Het
Acad11 G A 9: 103,963,465 (GRCm39) probably benign Het
Actb C T 5: 142,891,307 (GRCm39) probably benign Het
Ano9 G A 7: 140,687,117 (GRCm39) A374V probably damaging Het
Baz2b T C 2: 59,773,103 (GRCm39) probably null Het
Bltp3a G T 17: 28,109,110 (GRCm39) D1110Y probably benign Het
Bpifb9b T A 2: 154,155,551 (GRCm39) L350Q probably damaging Het
Cd27 T A 6: 125,211,281 (GRCm39) probably null Het
Cd72 A G 4: 43,449,563 (GRCm39) probably benign Het
Cdadc1 A T 14: 59,801,973 (GRCm39) S516T probably benign Het
Chst5 T A 8: 112,617,192 (GRCm39) I143F possibly damaging Het
Col20a1 T C 2: 180,639,156 (GRCm39) V452A possibly damaging Het
Cox11 C A 11: 90,535,229 (GRCm39) Q227K probably benign Het
Cpa6 A G 1: 10,665,843 (GRCm39) probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dpm2 T C 2: 32,461,203 (GRCm39) probably benign Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Frem1 A C 4: 82,881,387 (GRCm39) N1273K probably damaging Het
Fry T C 5: 150,317,704 (GRCm39) probably null Het
Gm10306 G T 4: 94,445,069 (GRCm39) probably benign Het
Gm5565 T C 5: 146,094,913 (GRCm39) T278A probably benign Het
Gm8180 A G 14: 44,019,802 (GRCm39) I40T probably benign Het
Iah1 T C 12: 21,367,426 (GRCm39) V44A probably benign Het
Iqgap3 C T 3: 88,020,435 (GRCm39) P360S probably damaging Het
Klhl28 T A 12: 65,003,896 (GRCm39) I206F possibly damaging Het
Krt13 A G 11: 100,012,332 (GRCm39) probably benign Het
Lipo2 T A 19: 33,726,914 (GRCm39) D41V probably benign Het
Lrig2 C G 3: 104,398,842 (GRCm39) V229L possibly damaging Het
Lrrc32 C T 7: 98,147,727 (GRCm39) T169I probably damaging Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Mgat4c G C 10: 102,224,599 (GRCm39) R271P probably damaging Het
Mylk A G 16: 34,735,360 (GRCm39) N780S possibly damaging Het
N4bp1 T C 8: 87,587,676 (GRCm39) T421A probably benign Het
Nat8f1 T C 6: 85,887,295 (GRCm39) T222A probably benign Het
Nsun2 T C 13: 69,691,992 (GRCm39) probably benign Het
Oas2 T A 5: 120,876,599 (GRCm39) D448V probably damaging Het
Or10al7 C A 17: 38,366,467 (GRCm39) V6F probably benign Het
Or2l13b A T 16: 19,349,383 (GRCm39) C96S probably damaging Het
Or5ak22 T C 2: 85,230,772 (GRCm39) Y35C probably damaging Het
Pgm2l1 T A 7: 99,877,204 (GRCm39) L25Q probably damaging Het
Pigp A T 16: 94,166,309 (GRCm39) V133D probably benign Het
Pnkp C T 7: 44,511,827 (GRCm39) S113L probably damaging Het
Pomt2 C T 12: 87,156,881 (GRCm39) D752N possibly damaging Het
Ppat T C 5: 77,074,640 (GRCm39) K65E probably damaging Het
Ptprn2 T C 12: 117,125,314 (GRCm39) L616P probably damaging Het
Rad54l2 A G 9: 106,595,091 (GRCm39) S289P probably damaging Het
Rbm39 G A 2: 156,019,266 (GRCm39) R31C possibly damaging Het
Rhbdf2 C A 11: 116,492,771 (GRCm39) V417L probably benign Het
Rnf157 T A 11: 116,246,298 (GRCm39) E255D possibly damaging Het
Rpl6l A T 10: 110,962,304 (GRCm39) noncoding transcript Het
Sec24c A G 14: 20,743,813 (GRCm39) D1006G probably damaging Het
Sh3bp1 G T 15: 78,792,237 (GRCm39) A401S probably benign Het
Slc17a8 A T 10: 89,412,367 (GRCm39) D539E probably benign Het
Slc38a9 T A 13: 112,826,098 (GRCm39) S136R probably damaging Het
Smoc2 A C 17: 14,589,295 (GRCm39) T255P probably benign Het
Smyd2 T C 1: 189,628,847 (GRCm39) D152G probably damaging Het
Stab1 A G 14: 30,862,350 (GRCm39) V2328A probably damaging Het
Taar2 A G 10: 23,816,591 (GRCm39) I44V probably benign Het
Tbc1d4 T C 14: 101,682,144 (GRCm39) K1251E probably benign Het
Thada G A 17: 84,754,027 (GRCm39) L315F probably damaging Het
Trbv14 T C 6: 41,112,259 (GRCm39) S19P probably benign Het
Ttc39c T C 18: 12,820,173 (GRCm39) probably benign Het
Ttc39d A G 17: 80,524,527 (GRCm39) I395M probably benign Het
Ttn T C 2: 76,548,728 (GRCm39) E31891G probably damaging Het
Ubr3 T C 2: 69,800,527 (GRCm39) V950A probably damaging Het
Usp9y T A Y: 1,307,920 (GRCm39) K2305N probably damaging Het
Vmn1r158 G A 7: 22,490,179 (GRCm39) T10I possibly damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vmn2r78 T A 7: 86,603,916 (GRCm39) I698K possibly damaging Het
Vmn2r86 G T 10: 130,289,460 (GRCm39) T145K probably damaging Het
Zfp51 T C 17: 21,684,933 (GRCm39) V516A probably benign Het
Zfp654 A T 16: 64,606,145 (GRCm39) S686T probably benign Het
Zfp846 T A 9: 20,502,111 (GRCm39) C55S probably benign 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
R0323:Lrriq1 UTSW 10 103,057,150 (GRCm39) missense possibly damaging 0.91
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
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'- GAACTGCTTTTACGACACTCAAAG -3'
(R):5'- TTCTAGTCCTCACACATCAAGACAG -3'

Sequencing Primer
(F):5'- CAGCATTTGGCAAAATGAA -3'
(R):5'- GCGTAAGTTCACACAGTTGC -3'
Posted On 2016-03-17