Incidental Mutation 'IGL02548:Mixl1'
ID297929
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mixl1
Ensembl Gene ENSMUSG00000026497
Gene NameMix1 homeobox-like 1 (Xenopus laevis)
SynonymsMml
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02548
Quality Score
Status
Chromosome1
Chromosomal Location180693043-180697034 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 180694704 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 204 (E204G)
Ref Sequence ENSEMBL: ENSMUSP00000027778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027778] [ENSMUST00000192561] [ENSMUST00000192725] [ENSMUST00000193892]
Predicted Effect probably benign
Transcript: ENSMUST00000027778
AA Change: E204G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000027778
Gene: ENSMUSG00000026497
AA Change: E204G

DomainStartEndE-ValueType
low complexity region 72 85 N/A INTRINSIC
HOX 86 148 1.58e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192561
SMART Domains Protein: ENSMUSP00000141331
Gene: ENSMUSG00000058729

DomainStartEndE-ValueType
DIRP 143 248 2.2e-71 SMART
coiled coil region 370 428 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192725
SMART Domains Protein: ENSMUSP00000141503
Gene: ENSMUSG00000058729

DomainStartEndE-ValueType
DIRP 103 208 2.2e-71 SMART
coiled coil region 330 388 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193892
SMART Domains Protein: ENSMUSP00000141530
Gene: ENSMUSG00000058729

DomainStartEndE-ValueType
DIRP 127 232 2.2e-71 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194847
Coding Region Coverage
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 G A 7: 46,005,262 A545V probably damaging Het
Adam29 A T 8: 55,872,867 L184* probably null Het
Ap1g1 C T 8: 109,849,622 A432V probably damaging Het
Atrn C T 2: 130,972,282 T716I probably damaging Het
B020004J07Rik T A 4: 101,835,573 Y410F probably damaging Het
Bahd1 C A 2: 118,917,045 Q382K possibly damaging Het
Barhl2 A G 5: 106,455,525 V256A probably benign Het
Camta2 A G 11: 70,670,685 F1113L probably damaging Het
Cdh23 G T 10: 60,650,122 T38K probably benign Het
Cmtm3 T C 8: 104,344,805 L111P probably damaging Het
Col27a1 T C 4: 63,318,255 probably benign Het
Cyp2c29 G A 19: 39,290,847 G96D possibly damaging Het
Flt1 C A 5: 147,639,248 R650L probably benign Het
Fpr1 T A 17: 17,876,653 E358V probably benign Het
Ggnbp2 A T 11: 84,862,286 N42K possibly damaging Het
Gldc T C 19: 30,099,899 T958A probably benign Het
Gm3573 A G 14: 42,187,495 probably null Het
Hspbp1 T C 7: 4,681,841 probably benign Het
Jhy G T 9: 40,917,175 Y478* probably null Het
Kiz A G 2: 146,870,770 E118G probably damaging Het
Klhdc1 A G 12: 69,253,718 Y144C probably benign Het
Lamc3 A T 2: 31,920,662 Y848F probably benign Het
Muc2 T A 7: 141,751,857 C202S probably damaging Het
Nfatc1 T C 18: 80,697,898 S282G probably damaging Het
Olfr1465 T C 19: 13,313,938 M116V probably damaging Het
Olfr175-ps1 C A 16: 58,824,328 C127F probably benign Het
Olfr531 T A 7: 140,400,662 Y128F probably damaging Het
Orc2 A T 1: 58,466,122 probably benign Het
Pcdhb10 T C 18: 37,412,690 I273T probably benign Het
Pdzph1 G A 17: 58,973,391 T632I probably benign Het
Phf1 A G 17: 26,935,626 Y225C probably damaging Het
Prcp T C 7: 92,901,174 F60L probably damaging Het
Psg21 C T 7: 18,655,036 V44I possibly damaging Het
Ptgdr C T 14: 44,858,614 V214M probably damaging Het
Pth1r G A 9: 110,727,680 R181W probably damaging Het
Ralgapb A G 2: 158,444,665 I343M probably damaging Het
Retreg1 C T 15: 25,895,118 Q128* probably null Het
Rrbp1 T C 2: 143,949,759 probably benign Het
Skint5 T A 4: 113,731,076 M726L unknown Het
Slc6a18 T C 13: 73,669,995 Y301C probably damaging Het
Slc8a3 G A 12: 81,204,156 probably benign Het
Tacr3 C A 3: 134,829,471 Q67K probably damaging Het
Tfrc A T 16: 32,624,822 K534* probably null Het
Timp3 T A 10: 86,338,451 M67K probably benign Het
Tmem120a C T 5: 135,736,774 E179K probably damaging Het
Tomm40l G A 1: 171,221,647 probably benign Het
Tubal3 A G 13: 3,930,554 R89G probably benign Het
Wdr35 A T 12: 9,024,297 N976I probably benign Het
Zfp292 T C 4: 34,805,416 T2543A probably damaging Het
Zfp976 T A 7: 42,612,529 H628L unknown Het
Zmynd8 A G 2: 165,833,405 V301A probably damaging Het
Other mutations in Mixl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03371:Mixl1 APN 1 180694626 missense probably benign 0.00
R0453:Mixl1 UTSW 1 180696646 missense probably damaging 1.00
R0838:Mixl1 UTSW 1 180696800 missense probably benign 0.45
R1832:Mixl1 UTSW 1 180694731 missense probably benign 0.11
R4870:Mixl1 UTSW 1 180694672 missense probably benign 0.06
R6046:Mixl1 UTSW 1 180696771 missense possibly damaging 0.94
R6918:Mixl1 UTSW 1 180694678 missense probably benign 0.02
R6980:Mixl1 UTSW 1 180696888 missense possibly damaging 0.51
R7047:Mixl1 UTSW 1 180696618 critical splice donor site probably null
R7296:Mixl1 UTSW 1 180696958 missense probably benign
X0065:Mixl1 UTSW 1 180694701 missense probably damaging 1.00
Posted On2015-04-16