Incidental Mutation 'R9083:Lix1'
ID 690428
Institutional Source Beutler Lab
Gene Symbol Lix1
Ensembl Gene ENSMUSG00000047786
Gene Name limb and CNS expressed 1
Synonyms 5730466L18Rik
MMRRC Submission 068902-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9083 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 17622948-17679649 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17677392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 196 (Y196H)
Ref Sequence ENSEMBL: ENSMUSP00000111239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115576] [ENSMUST00000140134]
AlphaFold Q6P566
Predicted Effect possibly damaging
Transcript: ENSMUST00000115576
AA Change: Y196H

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000111239
Gene: ENSMUSG00000047786
AA Change: Y196H

DomainStartEndE-ValueType
Pfam:LIX1 10 258 1.2e-131 PFAM
low complexity region 261 271 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000140134
AA Change: Y69H

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
Meta Mutation Damage Score 0.0674 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 100% (61/61)
MGI Phenotype PHENOTYPE: A gene trap allele that eliminates the full length transcript, but permits expression of a rodent-specific shorter transcript, results in mice with no overt mutant phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,534,524 (GRCm39) S844R possibly damaging Het
Adig C A 2: 158,347,709 (GRCm39) probably benign Het
Aspm A G 1: 139,421,436 (GRCm39) N3106S possibly damaging Het
Bcas1 A T 2: 170,190,081 (GRCm39) probably benign Het
Bco1 A C 8: 117,844,143 (GRCm39) I286L probably benign Het
Bnc1 C T 7: 81,624,646 (GRCm39) V194I probably benign Het
Bptf G A 11: 106,959,176 (GRCm39) R1912W probably damaging Het
Cacna1a A G 8: 85,344,511 (GRCm39) I1858V probably benign Het
Chdh T C 14: 29,753,703 (GRCm39) F204S probably damaging Het
Cic A G 7: 24,985,470 (GRCm39) T1212A probably damaging Het
Cpne7 C T 8: 123,856,951 (GRCm39) P402L probably damaging Het
Cts8 A G 13: 61,397,036 (GRCm39) Y295H probably damaging Het
Cyp1a2 T C 9: 57,587,572 (GRCm39) T333A probably benign Het
Cyp2a12 T C 7: 26,735,944 (GRCm39) F451S probably damaging Het
Dmxl2 T C 9: 54,316,548 (GRCm39) I1613V probably benign Het
Eme1 A G 11: 94,540,958 (GRCm39) L260S probably damaging Het
Ermp1 A C 19: 29,623,415 (GRCm39) S192A probably benign Het
Fam186a T C 15: 99,843,079 (GRCm39) Q1055R probably benign Het
Fat1 C T 8: 45,466,127 (GRCm39) T1462M possibly damaging Het
Fat1 A G 8: 45,491,336 (GRCm39) N3822S probably benign Het
Gm973 A G 1: 59,675,317 (GRCm39) T225A Het
Gnl2 A G 4: 124,941,357 (GRCm39) Y367C probably damaging Het
Golga5 T A 12: 102,458,476 (GRCm39) S640T probably benign Het
Inafm1 A G 7: 16,007,196 (GRCm39) V7A unknown Het
Irx2 A G 13: 72,777,392 (GRCm39) D71G possibly damaging Het
Kash5 G A 7: 44,854,058 (GRCm39) R24C unknown Het
Kif13a T C 13: 46,966,263 (GRCm39) Y448C probably damaging Het
Lcor G T 19: 41,574,839 (GRCm39) R1198L probably damaging Het
Ldlrad4 A T 18: 68,197,746 (GRCm39) N10I probably benign Het
Lrrc37 A C 11: 103,509,830 (GRCm39) S713A unknown Het
Mon1a A G 9: 107,779,835 (GRCm39) Y468C probably damaging Het
Mroh4 A T 15: 74,498,140 (GRCm39) I177N probably damaging Het
Mterf4 A T 1: 93,229,515 (GRCm39) Y236* probably null Het
Myo1f T A 17: 33,813,036 (GRCm39) I614N probably damaging Het
Nbas T A 12: 13,385,856 (GRCm39) S707T possibly damaging Het
Ncl A T 1: 86,279,183 (GRCm39) S577T possibly damaging Het
Or10al4 T A 17: 38,037,060 (GRCm39) N48K probably damaging Het
Or52d13 T C 7: 103,109,896 (GRCm39) D173G Het
Or6c2b A T 10: 128,947,892 (GRCm39) M134K probably damaging Het
Or6c69c A T 10: 129,910,941 (GRCm39) M221L probably benign Het
Or6c69c G C 10: 129,910,969 (GRCm39) S230T probably benign Het
Or7g17 A T 9: 18,768,550 (GRCm39) I201F probably benign Het
Or8g17 A G 9: 38,930,016 (GRCm39) S274P probably damaging Het
Padi1 C A 4: 140,559,602 (GRCm39) probably null Het
Patj G A 4: 98,401,871 (GRCm39) V1004M probably benign Het
Pcdhb9 A T 18: 37,535,770 (GRCm39) D588V probably damaging Het
Pdzph1 C A 17: 59,261,395 (GRCm39) R879L possibly damaging Het
Pla2g2c G A 4: 138,463,378 (GRCm39) V91I probably benign Het
Plin4 T C 17: 56,416,345 (GRCm39) D53G possibly damaging Het
Poll T C 19: 45,546,317 (GRCm39) Q241R probably benign Het
Recql5 A T 11: 115,785,475 (GRCm39) L674M possibly damaging Het
Shroom3 G A 5: 93,098,533 (GRCm39) G1338S probably damaging Het
Slc38a8 C T 8: 120,212,780 (GRCm39) V294I probably benign Het
Slc4a1ap T C 5: 31,684,457 (GRCm39) V31A probably benign Het
Tln2 G A 9: 67,269,927 (GRCm39) P489S probably damaging Het
Trappc9 G A 15: 72,608,626 (GRCm39) R928* probably null Het
Uba7 C A 9: 107,855,166 (GRCm39) T343N probably benign Het
Vasn C T 16: 4,467,871 (GRCm39) T606I probably benign Het
Xrn2 T A 2: 146,880,199 (GRCm39) D507E probably damaging Het
Zfp592 T A 7: 80,674,644 (GRCm39) M536K possibly damaging Het
Zfp932 A T 5: 110,157,100 (GRCm39) H266L probably damaging Het
Other mutations in Lix1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1278:Lix1 UTSW 17 17,647,469 (GRCm39) missense probably benign
R1630:Lix1 UTSW 17 17,677,420 (GRCm39) missense probably damaging 0.99
R1711:Lix1 UTSW 17 17,666,320 (GRCm39) missense possibly damaging 0.95
R5760:Lix1 UTSW 17 17,647,499 (GRCm39) missense possibly damaging 0.82
R6058:Lix1 UTSW 17 17,664,012 (GRCm39) missense probably damaging 1.00
R6357:Lix1 UTSW 17 17,666,255 (GRCm39) missense probably benign 0.02
R7331:Lix1 UTSW 17 17,647,474 (GRCm39) missense probably benign 0.02
R8061:Lix1 UTSW 17 17,663,938 (GRCm39) missense probably damaging 0.99
R8848:Lix1 UTSW 17 17,663,955 (GRCm39) missense probably damaging 1.00
R9278:Lix1 UTSW 17 17,623,211 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCTTTGCAAGACCAGATTAGTTC -3'
(R):5'- AGATCTGAGTCAGGGCCAAG -3'

Sequencing Primer
(F):5'- CAGATCCCTTTAGAGATGATGGC -3'
(R):5'- TCAGGGCCAAGCTCAGGATTTC -3'
Posted On 2021-12-30