Incidental Mutation 'R4632:Lrriq1'
ID 349292
Institutional Source Beutler Lab
Gene Symbol Lrriq1
Ensembl Gene ENSMUSG00000019892
Gene Name leucine-rich repeats and IQ motif containing 1
Synonyms LOC380658, 4930503E15Rik, Gm1557
MMRRC Submission 041897-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R4632 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 103046031-103236322 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103221427 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 171 (V171I)
Ref Sequence ENSEMBL: ENSMUSP00000131419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020043] [ENSMUST00000123364] [ENSMUST00000166240]
AlphaFold Q0P5X1
Predicted Effect probably damaging
Transcript: ENSMUST00000020043
AA Change: V171I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020043
Gene: ENSMUSG00000019892
AA Change: V171I

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 probably damaging
Transcript: ENSMUST00000123364
AA Change: V171I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119783
Gene: ENSMUSG00000019892
AA Change: V171I

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 probably damaging
Transcript: ENSMUST00000166240
AA Change: V171I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131419
Gene: ENSMUSG00000019892
AA Change: V171I

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik T C 13: 63,068,092 (GRCm38) S393P probably benign Het
Abcg1 T C 17: 31,064,473 (GRCm38) V44A probably benign Het
Abr C T 11: 76,509,019 (GRCm38) G39R probably benign Het
Adora2b TGGACCACTCCAGGACCACTC TGGACCACTC 11: 62,265,382 (GRCm38) probably null Het
Agbl1 A G 7: 76,413,685 (GRCm38) T47A probably benign Het
Akap13 G T 7: 75,666,553 (GRCm38) A1389S possibly damaging Het
Alkbh2 C T 5: 114,124,226 (GRCm38) E148K probably damaging Het
Ankar T A 1: 72,647,184 (GRCm38) T1286S probably benign Het
Ankrd13c A G 3: 157,962,302 (GRCm38) H166R probably damaging Het
Arl16 A G 11: 120,465,784 (GRCm38) S130P probably damaging Het
Atp10a A T 7: 58,807,438 (GRCm38) Q895L possibly damaging Het
Atp13a5 T A 16: 29,348,719 (GRCm38) R138W probably damaging Het
Auts2 G A 5: 131,472,275 (GRCm38) T309M probably damaging Het
C6 A T 15: 4,759,868 (GRCm38) K265I probably benign Het
Casz1 A G 4: 148,951,855 (GRCm38) T1525A possibly damaging Het
Chpf2 A G 5: 24,591,831 (GRCm38) T592A probably benign Het
Cilp A T 9: 65,279,880 (GRCm38) T1086S probably benign Het
Cmip A G 8: 117,447,411 (GRCm38) Y410C possibly damaging Het
Csmd3 A G 15: 48,011,209 (GRCm38) C560R probably damaging Het
Dchs1 T A 7: 105,754,355 (GRCm38) E2993D probably benign Het
Dnah7a A G 1: 53,427,951 (GRCm38) F3585L probably damaging Het
Dspp A G 5: 104,177,406 (GRCm38) D545G unknown Het
Dusp7 T A 9: 106,370,766 (GRCm38) S198T possibly damaging Het
Ell2 A T 13: 75,769,574 (GRCm38) Q541L possibly damaging Het
Fzd1 A T 5: 4,755,865 (GRCm38) Y572* probably null Het
Galntl6 T A 8: 58,427,823 (GRCm38) I99F probably damaging Het
Gm609 T G 16: 45,417,908 (GRCm38) H181P probably benign Het
Gnat3 G A 5: 18,015,366 (GRCm38) probably null Het
Hykk T C 9: 54,946,516 (GRCm38) I374T probably benign Het
Kcnd3 C T 3: 105,658,766 (GRCm38) A421V probably damaging Het
Kcnt2 A G 1: 140,523,148 (GRCm38) I722V possibly damaging Het
Krt1 C T 15: 101,846,187 (GRCm38) G543S unknown Het
Krt13 A G 11: 100,121,224 (GRCm38) L91P possibly damaging Het
Krtap4-13 A C 11: 99,809,528 (GRCm38) S102A unknown Het
Lrp2 A G 2: 69,489,129 (GRCm38) probably null Het
Map3k4 C G 17: 12,232,504 (GRCm38) E1501Q probably damaging Het
Mapk11 C T 15: 89,146,376 (GRCm38) V105M probably damaging Het
Mlph G A 1: 90,939,386 (GRCm38) A377T probably damaging Het
Myo9a G A 9: 59,869,664 (GRCm38) C1115Y probably benign Het
Nabp1 A T 1: 51,474,602 (GRCm38) Y78* probably null Het
Nos2 T C 11: 78,957,591 (GRCm38) F1108S possibly damaging Het
Oas2 T C 5: 120,733,481 (GRCm38) K699R probably benign Het
Olfm5 T C 7: 104,160,893 (GRCm38) D87G probably benign Het
Olfr15 C T 16: 3,839,087 (GRCm38) T38M probably damaging Het
Oog3 A G 4: 144,158,128 (GRCm38) F413L probably benign Het
Pik3r4 A G 9: 105,654,899 (GRCm38) M557V probably benign Het
Pkhd1l1 A G 15: 44,484,400 (GRCm38) T224A probably benign Het
Pknox2 A G 9: 36,894,413 (GRCm38) S367P probably benign Het
Ppfia2 A G 10: 106,836,044 (GRCm38) probably null Het
Ppm1e G A 11: 87,231,530 (GRCm38) P534S probably damaging Het
Prepl T C 17: 85,083,231 (GRCm38) T100A probably benign Het
Ptpn13 A G 5: 103,569,860 (GRCm38) N1924S possibly damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,579,904 (GRCm38) probably benign Het
Samd12 T A 15: 53,719,671 (GRCm38) H89L possibly damaging Het
Sephs1 T A 2: 4,896,760 (GRCm38) V211E probably benign Het
Setx C T 2: 29,148,615 (GRCm38) T1704I probably benign Het
Sltm T C 9: 70,579,369 (GRCm38) S439P possibly damaging Het
Sort1 G T 3: 108,346,678 (GRCm38) Q553H probably damaging Het
Svs2 G T 2: 164,237,747 (GRCm38) T80N probably benign Het
Tanc1 C A 2: 59,795,835 (GRCm38) T512K probably damaging Het
Tas2r139 T A 6: 42,141,498 (GRCm38) V188E probably damaging Het
Tesk2 C T 4: 116,741,712 (GRCm38) R6W probably benign Het
Tex101 G T 7: 24,668,368 (GRCm38) C186* probably null Het
Timp2 C T 11: 118,303,772 (GRCm38) S197N probably benign Het
Tmem37 A T 1: 120,068,249 (GRCm38) C33S probably damaging Het
Tmem69 T C 4: 116,553,038 (GRCm38) D245G probably benign Het
Trak1 G A 9: 121,454,425 (GRCm38) R419Q probably benign Het
Ube2j2 T A 4: 155,955,258 (GRCm38) I14N probably damaging Het
Ush2a T A 1: 188,395,874 (GRCm38) N694K possibly damaging Het
Utp20 A G 10: 88,778,261 (GRCm38) V1277A probably damaging Het
Vmn2r100 C T 17: 19,531,954 (GRCm38) S753F probably damaging Het
Vmn2r103 T C 17: 19,793,696 (GRCm38) I250T probably benign Het
Zap70 G T 1: 36,778,458 (GRCm38) A261S probably benign Het
Zdhhc6 A G 19: 55,314,309 (GRCm38) W87R probably damaging Het
Zfp410 A T 12: 84,325,736 (GRCm38) D112V probably damaging Het
Zfp462 T C 4: 55,012,981 (GRCm38) F501S probably damaging Het
Other mutations in Lrriq1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00988:Lrriq1 APN 10 103,161,896 (GRCm38) missense probably damaging 0.99
IGL01523:Lrriq1 APN 10 103,218,116 (GRCm38) nonsense probably null
IGL01637:Lrriq1 APN 10 103,215,628 (GRCm38) missense probably benign
IGL02019:Lrriq1 APN 10 103,178,800 (GRCm38) missense probably benign 0.02
IGL02153:Lrriq1 APN 10 103,170,479 (GRCm38) missense probably benign 0.01
IGL02341:Lrriq1 APN 10 103,224,941 (GRCm38) missense probably benign 0.03
IGL02343:Lrriq1 APN 10 103,234,163 (GRCm38) splice site probably benign
IGL02408:Lrriq1 APN 10 103,146,281 (GRCm38) missense probably benign 0.17
IGL02431:Lrriq1 APN 10 103,200,639 (GRCm38) missense probably damaging 1.00
IGL02540:Lrriq1 APN 10 103,215,019 (GRCm38) missense probably benign 0.02
IGL02558:Lrriq1 APN 10 103,146,283 (GRCm38) missense probably damaging 1.00
IGL02613:Lrriq1 APN 10 103,144,548 (GRCm38) missense probably damaging 0.99
IGL02642:Lrriq1 APN 10 103,221,461 (GRCm38) critical splice acceptor site probably null
IGL03027:Lrriq1 APN 10 103,227,196 (GRCm38) missense probably benign 0.35
PIT4362001:Lrriq1 UTSW 10 103,071,194 (GRCm38) missense probably benign 0.26
R0050:Lrriq1 UTSW 10 103,068,931 (GRCm38) missense probably damaging 0.99
R0050:Lrriq1 UTSW 10 103,068,931 (GRCm38) missense probably damaging 0.99
R0068:Lrriq1 UTSW 10 103,063,418 (GRCm38) missense probably benign 0.02
R0068:Lrriq1 UTSW 10 103,063,418 (GRCm38) missense probably benign 0.02
R0124:Lrriq1 UTSW 10 103,170,420 (GRCm38) critical splice donor site probably null
R0244:Lrriq1 UTSW 10 103,215,773 (GRCm38) missense probably damaging 0.98
R0323:Lrriq1 UTSW 10 103,221,289 (GRCm38) missense possibly damaging 0.91
R0515:Lrriq1 UTSW 10 103,068,968 (GRCm38) splice site probably null
R0522:Lrriq1 UTSW 10 103,161,777 (GRCm38) missense probably damaging 0.99
R0701:Lrriq1 UTSW 10 103,234,044 (GRCm38) missense probably benign
R1220:Lrriq1 UTSW 10 103,071,129 (GRCm38) missense probably benign 0.05
R1261:Lrriq1 UTSW 10 103,234,137 (GRCm38) missense possibly damaging 0.87
R1262:Lrriq1 UTSW 10 103,234,137 (GRCm38) missense possibly damaging 0.87
R1451:Lrriq1 UTSW 10 103,202,515 (GRCm38) splice site probably benign
R1642:Lrriq1 UTSW 10 103,214,456 (GRCm38) missense probably benign 0.13
R1643:Lrriq1 UTSW 10 103,214,824 (GRCm38) missense probably benign 0.00
R1647:Lrriq1 UTSW 10 103,170,648 (GRCm38) nonsense probably null
R1830:Lrriq1 UTSW 10 103,161,759 (GRCm38) missense probably benign
R1843:Lrriq1 UTSW 10 103,227,173 (GRCm38) splice site probably null
R2128:Lrriq1 UTSW 10 103,214,857 (GRCm38) missense probably benign 0.01
R2129:Lrriq1 UTSW 10 103,214,857 (GRCm38) missense probably benign 0.01
R2199:Lrriq1 UTSW 10 103,068,913 (GRCm38) missense probably damaging 1.00
R2354:Lrriq1 UTSW 10 103,189,987 (GRCm38) missense probably damaging 1.00
R2495:Lrriq1 UTSW 10 103,202,381 (GRCm38) missense probably damaging 0.97
R2897:Lrriq1 UTSW 10 103,227,250 (GRCm38) missense probably damaging 0.99
R2898:Lrriq1 UTSW 10 103,227,250 (GRCm38) missense probably damaging 0.99
R2922:Lrriq1 UTSW 10 103,214,675 (GRCm38) missense probably benign 0.00
R2939:Lrriq1 UTSW 10 103,144,889 (GRCm38) missense probably damaging 0.98
R2965:Lrriq1 UTSW 10 103,214,900 (GRCm38) missense probably benign 0.07
R2966:Lrriq1 UTSW 10 103,214,900 (GRCm38) missense probably benign 0.07
R3081:Lrriq1 UTSW 10 103,144,889 (GRCm38) missense probably damaging 0.98
R3115:Lrriq1 UTSW 10 103,170,433 (GRCm38) missense probably benign 0.00
R3745:Lrriq1 UTSW 10 103,170,856 (GRCm38) missense probably damaging 0.99
R3813:Lrriq1 UTSW 10 103,216,111 (GRCm38) missense probably damaging 1.00
R3814:Lrriq1 UTSW 10 103,216,111 (GRCm38) missense probably damaging 1.00
R3885:Lrriq1 UTSW 10 103,216,106 (GRCm38) missense probably damaging 0.96
R4378:Lrriq1 UTSW 10 103,202,364 (GRCm38) missense probably damaging 1.00
R4633:Lrriq1 UTSW 10 103,200,563 (GRCm38) nonsense probably null
R4663:Lrriq1 UTSW 10 103,063,412 (GRCm38) missense possibly damaging 0.88
R4702:Lrriq1 UTSW 10 103,215,749 (GRCm38) missense possibly damaging 0.65
R4793:Lrriq1 UTSW 10 103,170,466 (GRCm38) missense probably benign 0.25
R4801:Lrriq1 UTSW 10 103,221,318 (GRCm38) missense probably benign 0.02
R4802:Lrriq1 UTSW 10 103,221,318 (GRCm38) missense probably benign 0.02
R4815:Lrriq1 UTSW 10 103,144,878 (GRCm38) missense probably benign 0.10
R4872:Lrriq1 UTSW 10 103,178,788 (GRCm38) missense possibly damaging 0.56
R4877:Lrriq1 UTSW 10 103,234,038 (GRCm38) missense possibly damaging 0.88
R4894:Lrriq1 UTSW 10 103,161,752 (GRCm38) missense possibly damaging 0.86
R4990:Lrriq1 UTSW 10 103,200,559 (GRCm38) missense probably damaging 1.00
R4991:Lrriq1 UTSW 10 103,200,559 (GRCm38) missense probably damaging 1.00
R5011:Lrriq1 UTSW 10 103,189,923 (GRCm38) missense probably damaging 1.00
R5013:Lrriq1 UTSW 10 103,189,923 (GRCm38) missense probably damaging 1.00
R5122:Lrriq1 UTSW 10 103,187,453 (GRCm38) missense probably damaging 1.00
R5282:Lrriq1 UTSW 10 103,215,345 (GRCm38) missense probably benign 0.01
R5311:Lrriq1 UTSW 10 103,214,587 (GRCm38) missense probably damaging 1.00
R5567:Lrriq1 UTSW 10 103,170,596 (GRCm38) missense possibly damaging 0.56
R5643:Lrriq1 UTSW 10 103,215,440 (GRCm38) missense probably benign 0.00
R5683:Lrriq1 UTSW 10 103,173,375 (GRCm38) missense probably damaging 1.00
R5916:Lrriq1 UTSW 10 103,221,382 (GRCm38) nonsense probably null
R6008:Lrriq1 UTSW 10 103,170,464 (GRCm38) missense probably damaging 1.00
R6022:Lrriq1 UTSW 10 103,215,534 (GRCm38) missense possibly damaging 0.90
R6224:Lrriq1 UTSW 10 103,215,757 (GRCm38) missense probably damaging 1.00
R6254:Lrriq1 UTSW 10 103,215,451 (GRCm38) missense probably benign 0.15
R6311:Lrriq1 UTSW 10 103,173,393 (GRCm38) missense probably benign 0.03
R6460:Lrriq1 UTSW 10 103,200,698 (GRCm38) missense probably damaging 1.00
R6502:Lrriq1 UTSW 10 103,227,184 (GRCm38) missense probably damaging 0.99
R6637:Lrriq1 UTSW 10 103,221,432 (GRCm38) missense probably benign 0.06
R6719:Lrriq1 UTSW 10 103,071,116 (GRCm38) missense probably damaging 1.00
R6736:Lrriq1 UTSW 10 103,181,889 (GRCm38) critical splice acceptor site probably null
R6928:Lrriq1 UTSW 10 103,214,939 (GRCm38) missense possibly damaging 0.95
R6991:Lrriq1 UTSW 10 103,187,458 (GRCm38) missense probably damaging 1.00
R7174:Lrriq1 UTSW 10 103,224,965 (GRCm38) missense probably benign
R7241:Lrriq1 UTSW 10 103,215,973 (GRCm38) missense probably damaging 1.00
R7248:Lrriq1 UTSW 10 103,223,750 (GRCm38) missense possibly damaging 0.85
R7287:Lrriq1 UTSW 10 103,216,016 (GRCm38) missense probably benign 0.00
R7402:Lrriq1 UTSW 10 103,221,324 (GRCm38) missense possibly damaging 0.87
R7439:Lrriq1 UTSW 10 103,214,519 (GRCm38) missense probably benign 0.21
R7585:Lrriq1 UTSW 10 103,214,946 (GRCm38) missense possibly damaging 0.93
R7611:Lrriq1 UTSW 10 103,200,571 (GRCm38) missense possibly damaging 0.54
R7634:Lrriq1 UTSW 10 103,200,601 (GRCm38) missense probably damaging 1.00
R7767:Lrriq1 UTSW 10 103,215,954 (GRCm38) missense probably damaging 0.99
R7809:Lrriq1 UTSW 10 103,215,817 (GRCm38) missense probably damaging 0.99
R7910:Lrriq1 UTSW 10 103,215,194 (GRCm38) nonsense probably null
R8131:Lrriq1 UTSW 10 103,215,711 (GRCm38) missense possibly damaging 0.57
R8156:Lrriq1 UTSW 10 103,156,335 (GRCm38) critical splice donor site probably null
R8211:Lrriq1 UTSW 10 103,170,547 (GRCm38) missense probably damaging 1.00
R8304:Lrriq1 UTSW 10 103,234,068 (GRCm38) missense possibly damaging 0.57
R8487:Lrriq1 UTSW 10 103,215,053 (GRCm38) missense probably damaging 0.98
R8500:Lrriq1 UTSW 10 103,046,155 (GRCm38) missense
R9013:Lrriq1 UTSW 10 103,215,070 (GRCm38) missense probably damaging 1.00
R9099:Lrriq1 UTSW 10 103,216,003 (GRCm38) missense probably damaging 0.98
R9155:Lrriq1 UTSW 10 103,214,779 (GRCm38) missense probably benign 0.03
R9320:Lrriq1 UTSW 10 103,221,283 (GRCm38) missense probably benign
R9384:Lrriq1 UTSW 10 103,170,597 (GRCm38) missense probably benign 0.00
R9469:Lrriq1 UTSW 10 103,214,900 (GRCm38) missense probably benign 0.07
R9585:Lrriq1 UTSW 10 103,215,389 (GRCm38) missense probably benign
R9706:Lrriq1 UTSW 10 103,046,041 (GRCm38) missense
R9780:Lrriq1 UTSW 10 103,189,963 (GRCm38) missense probably damaging 1.00
X0026:Lrriq1 UTSW 10 103,215,704 (GRCm38) nonsense probably null
Z1088:Lrriq1 UTSW 10 103,202,446 (GRCm38) missense probably damaging 1.00
Z1176:Lrriq1 UTSW 10 103,234,085 (GRCm38) missense probably damaging 0.99
Z1176:Lrriq1 UTSW 10 103,202,360 (GRCm38) missense probably damaging 1.00
Z1176:Lrriq1 UTSW 10 103,202,359 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTTTAGCGCGAGGTGAGAAAG -3'
(R):5'- GCATATCTGCTAAGTTGACATCAG -3'

Sequencing Primer
(F):5'- CGAACCTTCTGAAGATCCTCTAAGTG -3'
(R):5'- ATCTGCTAAGTTGACATCAGTTTAC -3'
Posted On 2015-10-08