Incidental Mutation 'R6918:Mixl1'
ID 539427
Institutional Source Beutler Lab
Gene Symbol Mixl1
Ensembl Gene ENSMUSG00000026497
Gene Name Mix paired-like homeobox
Synonyms Mml
MMRRC Submission 045005-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6918 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 180520608-180524599 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 180522243 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 213 (I213F)
Ref Sequence ENSEMBL: ENSMUSP00000027778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027778] [ENSMUST00000192561] [ENSMUST00000192725] [ENSMUST00000193892]
AlphaFold Q9WUI0
Predicted Effect probably benign
Transcript: ENSMUST00000027778
AA Change: I213F

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000027778
Gene: ENSMUSG00000026497
AA Change: I213F

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 100% (48/48)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A C 17: 24,627,632 (GRCm39) K1359Q probably damaging Het
Ace T C 11: 105,863,769 (GRCm39) Y406H probably damaging Het
Acsl6 A G 11: 54,232,582 (GRCm39) probably null Het
Alms1 T A 6: 85,599,643 (GRCm39) Y1959N possibly damaging Het
Chrna7 T A 7: 62,809,299 (GRCm39) I76F probably benign Het
Cuedc1 C T 11: 88,077,899 (GRCm39) T296I probably benign Het
Ddc A G 11: 11,769,307 (GRCm39) V409A probably damaging Het
Dhx8 T A 11: 101,629,247 (GRCm39) Y212* probably null Het
Dnah6 T A 6: 73,158,738 (GRCm39) K622* probably null Het
Dscaml1 A G 9: 45,341,805 (GRCm39) H72R probably benign Het
Dyrk1b A G 7: 27,885,350 (GRCm39) D396G probably damaging Het
Gstm2 A G 3: 107,892,557 (GRCm39) probably null Het
Hsd3b1 A G 3: 98,760,425 (GRCm39) Y189H probably damaging Het
Kif1c G A 11: 70,597,813 (GRCm39) E356K probably damaging Het
Kirrel2 A C 7: 30,150,239 (GRCm39) C17G probably damaging Het
Klhl12 A G 1: 134,403,584 (GRCm39) H259R possibly damaging Het
Krt1 A G 15: 101,758,612 (GRCm39) V184A probably damaging Het
Lmod2 A T 6: 24,603,594 (GRCm39) N190Y probably benign Het
Lrp2 A C 2: 69,319,649 (GRCm39) V1958G probably damaging Het
Ly6h T C 15: 75,437,507 (GRCm39) S37G probably damaging Het
Man2a2 A T 7: 80,002,940 (GRCm39) H1056Q possibly damaging Het
Misp3 T G 8: 84,738,313 (GRCm39) M1L probably benign Het
Morc3 T C 16: 93,650,023 (GRCm39) I268T probably benign Het
Mtx2 C T 2: 74,706,697 (GRCm39) T224I probably damaging Het
Or8c15 G A 9: 38,120,948 (GRCm39) V198M possibly damaging Het
Oscp1 A C 4: 125,970,571 (GRCm39) D120A possibly damaging Het
Parp1 G A 1: 180,416,235 (GRCm39) V545I possibly damaging Het
Pipox A G 11: 77,772,380 (GRCm39) I330T probably damaging Het
Pkp2 A G 16: 16,090,082 (GRCm39) Y790C probably damaging Het
Pomt1 T A 2: 32,142,873 (GRCm39) probably null Het
Pp2d1 G A 17: 53,822,487 (GRCm39) T193M probably damaging Het
Prkra G T 2: 76,460,797 (GRCm39) H300Q probably damaging Het
Ror2 T G 13: 53,265,487 (GRCm39) N523T probably damaging Het
Rp1 A T 1: 4,069,831 (GRCm39) D1355E unknown Het
Rsph4a T C 10: 33,781,272 (GRCm39) Y41H probably benign Het
Scn1a T A 2: 66,162,557 (GRCm39) I230F probably damaging Het
Taar7e T A 10: 23,913,513 (GRCm39) M1K probably null Het
Tex15 T G 8: 34,063,212 (GRCm39) L1155V probably benign Het
Tmprss3 T C 17: 31,407,331 (GRCm39) K321E probably benign Het
Trappc14 A G 5: 138,258,926 (GRCm39) V211A probably benign Het
Tsc2 A T 17: 24,832,203 (GRCm39) C728S probably damaging Het
Ube2e3 A T 2: 78,750,383 (GRCm39) K203M probably damaging Het
Unc50 A T 1: 37,477,783 (GRCm39) T222S probably damaging Het
Vmn1r236 A T 17: 21,507,878 (GRCm39) H332L probably benign Het
Vmn2r7 G A 3: 64,598,760 (GRCm39) T599I probably benign Het
Zfp334 A T 2: 165,223,799 (GRCm39) D81E possibly damaging Het
Zfp710 A G 7: 79,731,788 (GRCm39) I322V possibly damaging Het
Other mutations in Mixl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02548:Mixl1 APN 1 180,522,269 (GRCm39) missense probably benign 0.03
IGL03371:Mixl1 APN 1 180,522,191 (GRCm39) missense probably benign 0.00
R0453:Mixl1 UTSW 1 180,524,211 (GRCm39) missense probably damaging 1.00
R0838:Mixl1 UTSW 1 180,524,365 (GRCm39) missense probably benign 0.45
R1832:Mixl1 UTSW 1 180,522,296 (GRCm39) missense probably benign 0.11
R4870:Mixl1 UTSW 1 180,522,237 (GRCm39) missense probably benign 0.06
R6046:Mixl1 UTSW 1 180,524,336 (GRCm39) missense possibly damaging 0.94
R6980:Mixl1 UTSW 1 180,524,453 (GRCm39) missense possibly damaging 0.51
R7047:Mixl1 UTSW 1 180,524,183 (GRCm39) critical splice donor site probably null
R7296:Mixl1 UTSW 1 180,524,523 (GRCm39) missense probably benign
R8108:Mixl1 UTSW 1 180,524,267 (GRCm39) missense probably damaging 1.00
R8237:Mixl1 UTSW 1 180,524,322 (GRCm39) nonsense probably null
R9074:Mixl1 UTSW 1 180,522,245 (GRCm39) missense probably damaging 1.00
R9095:Mixl1 UTSW 1 180,524,402 (GRCm39) missense probably benign
R9254:Mixl1 UTSW 1 180,522,258 (GRCm39) missense probably benign 0.00
R9379:Mixl1 UTSW 1 180,522,258 (GRCm39) missense probably benign 0.00
R9749:Mixl1 UTSW 1 180,522,311 (GRCm39) missense probably benign 0.00
X0065:Mixl1 UTSW 1 180,522,266 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCAGTAAAGGCTCAGTGTCAG -3'
(R):5'- AGAGTGGGAAGTCATTTCAGC -3'

Sequencing Primer
(F):5'- CTCAGTGTCAGAGAAGGGAACC -3'
(R):5'- AGTGGGAAGTCATTTCAGCCCTTATC -3'
Posted On 2018-11-06