Incidental Mutation 'R7296:Mixl1'
ID 571591
Institutional Source Beutler Lab
Gene Symbol Mixl1
Ensembl Gene ENSMUSG00000026497
Gene Name Mix1 homeobox-like 1 (Xenopus laevis)
Synonyms Mml
MMRRC Submission 045400-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7296 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 180693043-180697034 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 180696958 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 19 (I19V)
Ref Sequence ENSEMBL: ENSMUSP00000027778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027778]
AlphaFold Q9WUI0
Predicted Effect probably benign
Transcript: ENSMUST00000027778
AA Change: I19V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027778
Gene: ENSMUSG00000026497
AA Change: I19V

low complexity region 72 85 N/A INTRINSIC
HOX 86 148 1.58e-24 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 98% (85/87)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Homeodomain proteins, such as MIXL1, are transcription factors that regulate cell fate during development (Hart et al., 2005 [PubMed 15982639]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous null embryos are mostly arrested in development by E9 exhibiting abnormalities in primitive streak and node formation, disorganized head folds, foreshortened body axis, absence of heart tube and gut, deficient paraxial mesoderm, abnormal notochord morphology, and an enlarged allantois. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik T A 1: 57,383,143 (GRCm38) M226K probably benign Het
4921524L21Rik T G 18: 6,626,385 (GRCm38) S132R probably damaging Het
A4gnt T G 9: 99,620,282 (GRCm38) I165S probably damaging Het
Abca14 G A 7: 120,278,311 (GRCm38) D1061N probably benign Het
Abcc9 G A 6: 142,671,593 (GRCm38) P582S probably damaging Het
Abhd5 G A 9: 122,379,573 (GRCm38) V343I probably benign Het
Adam6a C T 12: 113,545,572 (GRCm38) R522C probably damaging Het
Ankle2 G A 5: 110,237,724 (GRCm38) R313H probably damaging Het
Aplf G A 6: 87,646,215 (GRCm38) T315I probably damaging Het
Asic5 C T 3: 82,021,076 (GRCm38) P491S probably benign Het
Atp5f1b T C 10: 128,085,522 (GRCm38) Y230H probably benign Het
B4galt6 A T 18: 20,728,042 (GRCm38) I51N probably damaging Het
Bmal2 G A 6: 146,822,134 (GRCm38) V321I not run Het
C4b A G 17: 34,743,659 (GRCm38) L23S probably damaging Het
Cables2 A G 2: 180,260,336 (GRCm38) V410A Het
Ccdc168 T A 1: 44,060,916 (GRCm38) K341* probably null Het
Cdyl A G 13: 35,863,395 (GRCm38) M489V probably damaging Het
Clip4 T C 17: 71,790,001 (GRCm38) M40T probably damaging Het
Col12a1 T C 9: 79,682,066 (GRCm38) Y1069C probably damaging Het
Col6a3 T C 1: 90,827,986 (GRCm38) M194V probably benign Het
Colec11 T A 12: 28,594,715 (GRCm38) D260V probably damaging Het
Cracdl T C 1: 37,614,618 (GRCm38) T1036A possibly damaging Het
Cux2 T C 5: 121,861,256 (GRCm38) D1207G probably benign Het
Cyp2d34 G T 15: 82,617,235 (GRCm38) N297K possibly damaging Het
Dmbt1 A G 7: 131,112,132 (GRCm38) Y1643C unknown Het
Dnmt3c A G 2: 153,715,026 (GRCm38) T288A probably benign Het
Dock8 T A 19: 25,184,881 (GRCm38) F1842I probably benign Het
Dysf A G 6: 84,106,898 (GRCm38) I740V probably benign Het
Epha6 T A 16: 59,915,838 (GRCm38) M778L probably benign Het
Eri2 A T 7: 119,786,516 (GRCm38) L254* probably null Het
Fam43b A G 4: 138,395,841 (GRCm38) F56S probably damaging Het
Fat4 C A 3: 38,889,145 (GRCm38) S729* probably null Het
Fbxw22 C A 9: 109,382,075 (GRCm38) W386L probably benign Het
Fgd6 C A 10: 94,139,881 (GRCm38) T1386K probably benign Het
Fgd6 T A 10: 94,044,047 (GRCm38) C254* probably null Het
Fkbp7 G T 2: 76,671,764 (GRCm38) D98E possibly damaging Het
Hectd1 C T 12: 51,785,852 (GRCm38) C913Y possibly damaging Het
Hgf T A 5: 16,564,843 (GRCm38) M105K probably benign Het
Icam1 A C 9: 21,019,015 (GRCm38) D55A probably benign Het
Itga2 A C 13: 114,857,394 (GRCm38) probably null Het
Kcnj5 A C 9: 32,322,749 (GRCm38) L90R probably damaging Het
Klra17 T A 6: 129,831,592 (GRCm38) N226I possibly damaging Het
Krt1 T A 15: 101,850,629 (GRCm38) R33S unknown Het
L3mbtl3 T A 10: 26,282,830 (GRCm38) D615V unknown Het
Lrp2 T A 2: 69,482,381 (GRCm38) Y2521F probably benign Het
Megf10 A T 18: 57,275,753 (GRCm38) N589I probably damaging Het
Metap1d G C 2: 71,506,785 (GRCm38) G14A probably benign Het
Mfap5 T A 6: 122,528,422 (GRCm38) D162E probably benign Het
Mtrr G T 13: 68,568,860 (GRCm38) Y411* probably null Het
Myh7 T C 14: 54,990,025 (GRCm38) T318A probably benign Het
Nbeal1 T A 1: 60,310,224 (GRCm38) Y2348* probably null Het
Nhsl3 A G 4: 129,225,418 (GRCm38) Y170H probably damaging Het
Niban2 T C 2: 32,922,642 (GRCm38) S468P possibly damaging Het
Nlrc3 T C 16: 3,963,590 (GRCm38) S668G probably damaging Het
Nutm1 G A 2: 112,250,056 (GRCm38) R505C probably damaging Het
Or10ag59 T A 2: 87,575,708 (GRCm38) V208E probably damaging Het
Or12j2 A T 7: 140,336,741 (GRCm38) D293V possibly damaging Het
Or4c117 C A 2: 89,124,836 (GRCm38) R298S probably benign Het
Pcna A G 2: 132,252,877 (GRCm38) S54P probably benign Het
Pde6a A G 18: 61,258,293 (GRCm38) T570A probably damaging Het
Phf21b A T 15: 84,855,717 (GRCm38) M1K probably null Het
Prob1 A G 18: 35,653,299 (GRCm38) F634S possibly damaging Het
Prss50 A G 9: 110,861,289 (GRCm38) T167A probably damaging Het
Ptpn1 T C 2: 167,974,772 (GRCm38) V249A probably damaging Het
Rai1 G A 11: 60,188,673 (GRCm38) V1188I probably benign Het
Ric1 G A 19: 29,584,578 (GRCm38) probably null Het
Robo1 C T 16: 72,989,631 (GRCm38) Q844* probably null Het
Rpn1 A G 6: 88,084,637 (GRCm38) D36G possibly damaging Het
Serpinb1b A T 13: 33,093,827 (GRCm38) M348L probably benign Het
Setd4 T C 16: 93,583,942 (GRCm38) probably null Het
Setd5 T G 6: 113,147,557 (GRCm38) S1124A probably benign Het
Slc35c1 C A 2: 92,458,739 (GRCm38) V154F probably damaging Het
Slc7a6os G T 8: 106,210,489 (GRCm38) S113* probably null Het
Syne2 T A 12: 76,103,036 (GRCm38) D1787E probably benign Het
Tas2r144 A C 6: 42,215,439 (GRCm38) I38L probably damaging Het
Tepsin G T 11: 120,091,708 (GRCm38) T512K possibly damaging Het
Utp20 A G 10: 88,770,724 (GRCm38) V1662A probably benign Het
Vmn1r201 C T 13: 22,475,339 (GRCm38) A241V possibly damaging Het
Vmn2r60 T A 7: 42,136,402 (GRCm38) S210T probably benign Het
Wdr6 G T 9: 108,574,585 (GRCm38) H700N probably damaging Het
Zdhhc8 T C 16: 18,234,926 (GRCm38) T29A probably benign Het
Zfp335 A G 2: 164,900,132 (GRCm38) I614T probably damaging Het
Zfp54 T A 17: 21,433,582 (GRCm38) S113T probably benign Het
Zfp873 T A 10: 82,061,237 (GRCm38) C601S probably damaging Het
Zfyve26 T C 12: 79,278,372 (GRCm38) probably null Het
Zmynd8 T C 2: 165,840,009 (GRCm38) T201A probably damaging Het
Other mutations in Mixl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02548:Mixl1 APN 1 180,694,704 (GRCm38) missense probably benign 0.03
IGL03371:Mixl1 APN 1 180,694,626 (GRCm38) missense probably benign 0.00
R0453:Mixl1 UTSW 1 180,696,646 (GRCm38) missense probably damaging 1.00
R0838:Mixl1 UTSW 1 180,696,800 (GRCm38) missense probably benign 0.45
R1832:Mixl1 UTSW 1 180,694,731 (GRCm38) missense probably benign 0.11
R4870:Mixl1 UTSW 1 180,694,672 (GRCm38) missense probably benign 0.06
R6046:Mixl1 UTSW 1 180,696,771 (GRCm38) missense possibly damaging 0.94
R6918:Mixl1 UTSW 1 180,694,678 (GRCm38) missense probably benign 0.02
R6980:Mixl1 UTSW 1 180,696,888 (GRCm38) missense possibly damaging 0.51
R7047:Mixl1 UTSW 1 180,696,618 (GRCm38) critical splice donor site probably null
R8108:Mixl1 UTSW 1 180,696,702 (GRCm38) missense probably damaging 1.00
R8237:Mixl1 UTSW 1 180,696,757 (GRCm38) nonsense probably null
R9074:Mixl1 UTSW 1 180,694,680 (GRCm38) missense probably damaging 1.00
R9095:Mixl1 UTSW 1 180,696,837 (GRCm38) missense probably benign
R9254:Mixl1 UTSW 1 180,694,693 (GRCm38) missense probably benign 0.00
R9379:Mixl1 UTSW 1 180,694,693 (GRCm38) missense probably benign 0.00
R9749:Mixl1 UTSW 1 180,694,746 (GRCm38) missense probably benign 0.00
X0065:Mixl1 UTSW 1 180,694,701 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-09-13