Incidental Mutation 'R8111:Lrriq4'
ID 630854
Institutional Source Beutler Lab
Gene Symbol Lrriq4
Ensembl Gene ENSMUSG00000027703
Gene Name leucine-rich repeats and IQ motif containing 4
Synonyms 4930558O21Rik
MMRRC Submission 067540-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R8111 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 30698656-30726580 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30709930 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 425 (S425P)
Ref Sequence ENSEMBL: ENSMUSP00000103902 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108265] [ENSMUST00000108267] [ENSMUST00000172350]
AlphaFold A6H6A4
Predicted Effect possibly damaging
Transcript: ENSMUST00000108265
AA Change: S410P

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103900
Gene: ENSMUSG00000027703
AA Change: S410P

DomainStartEndE-ValueType
LRR 68 90 7.05e-1 SMART
LRR 91 114 1.19e1 SMART
Pfam:LRR_7 115 133 1.1e-1 PFAM
LRR 138 161 9.75e0 SMART
LRR 162 185 8.72e0 SMART
LRR 208 230 3.47e0 SMART
LRR 231 254 9.3e-1 SMART
LRR 255 276 1.22e2 SMART
LRR 277 300 4.83e0 SMART
LRR 323 345 6.22e0 SMART
LRR 346 368 6.4e0 SMART
LRR 369 392 1.51e0 SMART
LRR 418 440 2.03e1 SMART
LRR 441 464 2.82e0 SMART
IQ 524 546 8.84e-3 SMART
low complexity region 553 581 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108267
AA Change: S425P

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103902
Gene: ENSMUSG00000027703
AA Change: S425P

DomainStartEndE-ValueType
LRR 83 105 7.05e-1 SMART
LRR 106 129 1.19e1 SMART
Pfam:LRR_7 130 148 1.2e-1 PFAM
LRR 153 176 9.75e0 SMART
LRR 177 200 8.72e0 SMART
LRR 223 245 3.47e0 SMART
LRR 246 269 9.3e-1 SMART
LRR 270 291 1.22e2 SMART
LRR 292 315 4.83e0 SMART
LRR 338 360 6.22e0 SMART
LRR 361 383 6.4e0 SMART
LRR 384 407 1.51e0 SMART
LRR 433 455 2.03e1 SMART
LRR 456 479 2.82e0 SMART
IQ 539 561 8.84e-3 SMART
low complexity region 568 596 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000172350
AA Change: S425P

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127052
Gene: ENSMUSG00000027703
AA Change: S425P

DomainStartEndE-ValueType
LRR 83 105 7.05e-1 SMART
LRR 106 129 1.19e1 SMART
LRR 153 176 9.75e0 SMART
LRR 177 200 8.72e0 SMART
LRR 223 245 3.47e0 SMART
LRR 246 269 9.3e-1 SMART
LRR 270 291 1.22e2 SMART
LRR 292 315 4.83e0 SMART
LRR 338 360 6.22e0 SMART
LRR 361 383 6.4e0 SMART
LRR 384 407 1.51e0 SMART
LRR 433 455 2.03e1 SMART
LRR 456 479 2.82e0 SMART
IQ 539 561 8.84e-3 SMART
low complexity region 568 596 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 93.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik C T 14: 32,382,266 (GRCm39) W1233* probably null Het
4930590J08Rik A G 6: 91,894,691 (GRCm39) I247V probably benign Het
8030423J24Rik T A 13: 71,032,077 (GRCm39) C50S unknown Het
Adam29 T G 8: 56,324,585 (GRCm39) H623P probably benign Het
Adamts5 A G 16: 85,696,203 (GRCm39) V318A probably damaging Het
Ano3 T C 2: 110,614,058 (GRCm39) D215G possibly damaging Het
Ap3b2 A G 7: 81,113,530 (GRCm39) I893T unknown Het
Apob G A 12: 8,058,801 (GRCm39) A2428T probably benign Het
Armc3 T C 2: 19,301,674 (GRCm39) V660A probably benign Het
Atf7 G T 15: 102,471,769 (GRCm39) T42K probably damaging Het
Atg9a A T 1: 75,164,366 (GRCm39) I160N probably damaging Het
Atp2b1 T C 10: 98,832,786 (GRCm39) V429A possibly damaging Het
Bpifb3 A C 2: 153,764,609 (GRCm39) H167P probably benign Het
Cacna1f G T X: 7,487,326 (GRCm39) E921D probably damaging Het
Ccdc57 T A 11: 120,769,713 (GRCm39) L713F probably damaging Het
Chd1l C T 3: 97,494,526 (GRCm39) E385K possibly damaging Het
Csmd1 C T 8: 15,967,306 (GRCm39) V3186I probably benign Het
Dclre1c T A 2: 3,448,185 (GRCm39) D349E probably benign Het
Dlg1 C T 16: 31,661,620 (GRCm39) T657M possibly damaging Het
Dync2h1 T C 9: 7,148,688 (GRCm39) I919V probably benign Het
Dync2i2 C A 2: 29,921,859 (GRCm39) A501S possibly damaging Het
Eml5 A G 12: 98,758,773 (GRCm39) probably null Het
Epas1 C A 17: 87,125,860 (GRCm39) S286* probably null Het
Fat1 G A 8: 45,479,095 (GRCm39) V2714I possibly damaging Het
Fuca2 T C 10: 13,390,545 (GRCm39) M447T probably benign Het
Gm10800 CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA CAAGAAAACTGAAAATCA 2: 98,497,361 (GRCm39) probably null Het
Gm11110 A C 17: 57,410,427 (GRCm39) C24G probably null Het
Gm6176 T A 7: 21,750,593 (GRCm39) I113F probably benign Het
Gmcl1 G T 6: 86,698,408 (GRCm39) A163E probably damaging Het
Gpat2 G T 2: 127,275,777 (GRCm39) L518F probably damaging Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Hgsnat C T 8: 26,458,440 (GRCm39) V195I probably benign Het
Hivep3 T A 4: 119,955,583 (GRCm39) S1300T probably damaging Het
Hs3st2 A T 7: 120,992,362 (GRCm39) H137L probably damaging Het
Iffo1 T C 6: 125,122,781 (GRCm39) S188P possibly damaging Het
Itih1 T C 14: 30,654,225 (GRCm39) D684G probably damaging Het
Lrba C A 3: 86,235,012 (GRCm39) N852K probably damaging Het
Mdn1 T A 4: 32,674,003 (GRCm39) S562T possibly damaging Het
Mex3a T C 3: 88,444,064 (GRCm39) V380A probably benign Het
Mgat4d A T 8: 84,094,776 (GRCm39) N271I probably damaging Het
Mmp24 T A 2: 155,649,345 (GRCm39) V254E possibly damaging Het
Muc16 T A 9: 18,503,925 (GRCm39) R6455S possibly damaging Het
Npffr1 T A 10: 61,459,128 (GRCm39) V127E probably damaging Het
Obox5 T A 7: 15,492,541 (GRCm39) N165K probably damaging Het
Or10g3b G A 14: 52,587,344 (GRCm39) T53M possibly damaging Het
Otulin A C 15: 27,606,381 (GRCm39) V344G probably damaging Het
Pappa A G 4: 65,180,229 (GRCm39) D1030G probably damaging Het
Pdzd2 G A 15: 12,373,592 (GRCm39) S2181L probably benign Het
Ppp2r3c C A 12: 55,344,634 (GRCm39) M111I probably benign Het
Prss37 T C 6: 40,494,747 (GRCm39) T13A probably benign Het
Sfi1 TCGC TC 11: 3,096,254 (GRCm39) probably null Het
Sgo2b T A 8: 64,396,138 (GRCm39) K39N probably damaging Het
Sike1 T C 3: 102,909,123 (GRCm39) *208Q probably null Het
Spire1 A G 18: 67,652,391 (GRCm39) S229P probably damaging Het
Tmem132b A G 5: 125,699,857 (GRCm39) I132V probably benign Het
Umodl1 T C 17: 31,190,792 (GRCm39) V213A probably damaging Het
Washc1 C G 17: 66,423,033 (GRCm39) Q116E probably benign Het
Zfp553 T A 7: 126,836,093 (GRCm39) C549* probably null Het
Zfp9 G A 6: 118,441,561 (GRCm39) P367L probably damaging Het
Other mutations in Lrriq4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Lrriq4 APN 3 30,705,104 (GRCm39) splice site probably null
IGL01289:Lrriq4 APN 3 30,704,542 (GRCm39) missense probably damaging 1.00
IGL02130:Lrriq4 APN 3 30,704,896 (GRCm39) missense probably damaging 0.99
IGL02614:Lrriq4 APN 3 30,709,788 (GRCm39) missense probably damaging 1.00
R0329:Lrriq4 UTSW 3 30,709,873 (GRCm39) missense probably benign 0.03
R1340:Lrriq4 UTSW 3 30,704,472 (GRCm39) missense possibly damaging 0.46
R1440:Lrriq4 UTSW 3 30,704,910 (GRCm39) missense probably damaging 1.00
R1446:Lrriq4 UTSW 3 30,704,727 (GRCm39) missense probably benign 0.00
R1597:Lrriq4 UTSW 3 30,705,037 (GRCm39) missense probably damaging 1.00
R1763:Lrriq4 UTSW 3 30,704,401 (GRCm39) missense probably benign 0.19
R1923:Lrriq4 UTSW 3 30,713,242 (GRCm39) missense probably benign 0.13
R4024:Lrriq4 UTSW 3 30,704,422 (GRCm39) missense possibly damaging 0.46
R4026:Lrriq4 UTSW 3 30,704,422 (GRCm39) missense possibly damaging 0.46
R4645:Lrriq4 UTSW 3 30,704,892 (GRCm39) missense probably benign 0.20
R4816:Lrriq4 UTSW 3 30,714,196 (GRCm39) missense possibly damaging 0.73
R5049:Lrriq4 UTSW 3 30,705,086 (GRCm39) missense probably damaging 0.97
R5105:Lrriq4 UTSW 3 30,704,632 (GRCm39) missense probably damaging 1.00
R5298:Lrriq4 UTSW 3 30,699,481 (GRCm39) start codon destroyed probably null
R5487:Lrriq4 UTSW 3 30,714,144 (GRCm39) missense probably benign 0.16
R6147:Lrriq4 UTSW 3 30,713,228 (GRCm39) missense probably damaging 1.00
R6421:Lrriq4 UTSW 3 30,704,551 (GRCm39) missense probably damaging 1.00
R6452:Lrriq4 UTSW 3 30,709,882 (GRCm39) missense probably damaging 1.00
R6624:Lrriq4 UTSW 3 30,704,929 (GRCm39) missense probably benign 0.01
R7032:Lrriq4 UTSW 3 30,709,850 (GRCm39) nonsense probably null
R8786:Lrriq4 UTSW 3 30,704,752 (GRCm39) missense probably benign 0.02
R8862:Lrriq4 UTSW 3 30,705,088 (GRCm39) missense probably damaging 1.00
R8897:Lrriq4 UTSW 3 30,709,807 (GRCm39) missense probably damaging 1.00
R9021:Lrriq4 UTSW 3 30,704,401 (GRCm39) missense probably benign 0.29
R9720:Lrriq4 UTSW 3 30,714,077 (GRCm39) missense probably damaging 1.00
Z1177:Lrriq4 UTSW 3 30,704,145 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- GGTTCAAAGTCAAAAGCTCAAGC -3'
(R):5'- AGATGCATCCTTTACAGTGTGG -3'

Sequencing Primer
(F):5'- CACCCAGGCAGCTTATTATTGAGG -3'
(R):5'- CTTTACAGTGTGGAAAGCATCACCTC -3'
Posted On 2020-06-30