Incidental Mutation 'R5760:Lix1'
ID445266
Institutional Source Beutler Lab
Gene Symbol Lix1
Ensembl Gene ENSMUSG00000047786
Gene Namelimb and CNS expressed 1
Synonyms
MMRRC Submission 043362-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5760 (G1)
Quality Score225
Status Not validated
Chromosome17
Chromosomal Location17402672-17459387 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 17427237 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 55 (V55D)
Ref Sequence ENSEMBL: ENSMUSP00000111239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115576]
Predicted Effect possibly damaging
Transcript: ENSMUST00000115576
AA Change: V55D

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111239
Gene: ENSMUSG00000047786
AA Change: V55D

DomainStartEndE-ValueType
Pfam:LIX1 10 258 1.2e-131 PFAM
low complexity region 261 271 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447A16Rik T C 15: 37,439,591 probably benign Het
Abl2 C T 1: 156,641,857 T793M probably benign Het
Accs A C 2: 93,845,760 L90R probably damaging Het
Ahnak A T 19: 9,013,562 D4070V probably damaging Het
Apbb2 A G 5: 66,362,757 V475A probably benign Het
Atp10d T A 5: 72,260,937 V602E probably benign Het
Cdh23 C T 10: 60,406,392 V1088M probably damaging Het
Dennd6a A T 14: 26,612,040 I144L probably damaging Het
Dnajc6 G A 4: 101,618,642 A571T probably benign Het
Drap1 A G 19: 5,424,363 I18T probably damaging Het
En2 C A 5: 28,166,999 A158D probably benign Het
Fbn1 C T 2: 125,361,247 G1219R probably damaging Het
Fkbpl G A 17: 34,645,329 A24T probably benign Het
Gm7535 C T 17: 17,911,818 probably benign Het
Hao2 A T 3: 98,880,432 L227* probably null Het
Hdlbp C T 1: 93,440,777 probably benign Het
Hivep3 A G 4: 120,095,011 K175E possibly damaging Het
Hmcn2 G A 2: 31,414,568 A3075T possibly damaging Het
Igkv6-15 A T 6: 70,406,532 I95N probably damaging Het
Itgad A T 7: 128,203,365 Q1001L probably benign Het
Jaml T A 9: 45,097,754 M151K probably benign Het
Macf1 A G 4: 123,513,884 S179P probably damaging Het
Matn2 T A 15: 34,355,607 Q33L possibly damaging Het
Mcm3 CT CTT 1: 20,808,748 probably null Het
Mroh5 A C 15: 73,821,507 I28S probably damaging Het
Naip5 T G 13: 100,242,838 K231N probably damaging Het
Neb A C 2: 52,183,818 Y5683D probably damaging Het
Npc1l1 A T 11: 6,229,031 H126Q probably benign Het
Npm2 A G 14: 70,649,495 F110L probably damaging Het
Nsd3 A T 8: 25,659,756 H319L probably damaging Het
Nup205 G A 6: 35,247,343 R2039Q probably damaging Het
Olfr1406 C A 1: 173,183,751 A228S probably benign Het
Olfr1415 A G 1: 92,491,200 L185P possibly damaging Het
Olfr77 A C 9: 19,920,754 T182P probably benign Het
Pcdhac2 G A 18: 37,146,400 G811E probably damaging Het
Pkhd1 T A 1: 20,073,554 R3849S probably benign Het
Pmfbp1 A T 8: 109,521,023 D317V probably damaging Het
Sall1 T C 8: 89,028,650 N1234D possibly damaging Het
Slc12a7 T A 13: 73,813,622 V1037D probably damaging Het
Slc12a8 G T 16: 33,624,785 E404* probably null Het
Tchhl1 C G 3: 93,471,556 S522R probably damaging Het
Tgif1 A G 17: 70,845,001 V152A probably damaging Het
Tshz3 C A 7: 36,771,569 H994Q probably damaging Het
Ubash3b T G 9: 41,077,423 K62T probably benign Het
Ushbp1 G T 8: 71,387,368 D546E probably damaging Het
Zfp458 A C 13: 67,257,789 C192W probably damaging Het
Zfp808 A T 13: 62,171,926 H323L probably damaging Het
Other mutations in Lix1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1278:Lix1 UTSW 17 17427207 missense probably benign
R1630:Lix1 UTSW 17 17457158 missense probably damaging 0.99
R1711:Lix1 UTSW 17 17446058 missense possibly damaging 0.95
R6058:Lix1 UTSW 17 17443750 missense probably damaging 1.00
R6357:Lix1 UTSW 17 17445993 missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TCTTCACAGTTGAGAGCGGC -3'
(R):5'- GCTTTATCCACTATATCCAGAAGCCC -3'

Sequencing Primer
(F):5'- ATTCTGTTTAAAATGGCCACTGG -3'
(R):5'- GAAGCCCCTCATAGCTATTTTGTGAG -3'
Posted On2016-11-21