Incidental Mutation 'R8865:En1'
ID 692924
Institutional Source Beutler Lab
Gene Symbol En1
Ensembl Gene ENSMUSG00000058665
Gene Name engrailed 1
Synonyms engrailed-1, En-1, Mo-en.1
MMRRC Submission 068681-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8865 (G1)
Quality Score 40.0075
Status Validated
Chromosome 1
Chromosomal Location 120530246-120535719 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) G to T at 120530729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000078659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079721]
AlphaFold P09065
Predicted Effect probably benign
Transcript: ENSMUST00000079721
SMART Domains Protein: ENSMUSP00000078659
Gene: ENSMUSG00000058665

low complexity region 13 104 N/A INTRINSIC
low complexity region 133 147 N/A INTRINSIC
low complexity region 197 250 N/A INTRINSIC
HOX 312 374 1.11e-24 SMART
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (72/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutant homozygotes usually die within 24 hours of birth. Mutants exhibit nervous system defects, including a lack of most of the colliculi, cerebellum, and the third and fourth cranial nerves in some lines. Skeletal anomalies have also been described. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 T A 11: 50,672,571 (GRCm39) Y606* probably null Het
Adgrb1 A G 15: 74,415,507 (GRCm39) I696V possibly damaging Het
Ass1 A G 2: 31,410,407 (GRCm39) Q406R probably benign Het
Ccdc148 T C 2: 58,719,832 (GRCm39) K409R possibly damaging Het
Ccnl1 A T 3: 65,854,269 (GRCm39) S451T probably benign Het
Cdc123 T C 2: 5,800,235 (GRCm39) probably benign Het
Cep192 T C 18: 67,967,703 (GRCm39) V729A probably benign Het
Chd6 G A 2: 160,862,989 (GRCm39) A444V probably benign Het
Chl1 A G 6: 103,685,822 (GRCm39) K898E probably damaging Het
Chrng T C 1: 87,135,219 (GRCm39) V154A probably damaging Het
Cog1 T G 11: 113,549,324 (GRCm39) M799R probably benign Het
Col4a3 G A 1: 82,647,483 (GRCm39) probably null Het
Coro6 C A 11: 77,359,917 (GRCm39) T366K probably damaging Het
Cwh43 G A 5: 73,598,702 (GRCm39) M640I probably benign Het
Cyp2c55 A G 19: 39,019,878 (GRCm39) E272G probably benign Het
Cyp4f39 A G 17: 32,702,271 (GRCm39) Y256C probably damaging Het
Dbx2 G A 15: 95,530,281 (GRCm39) R229* probably null Het
Dcdc2a C T 13: 25,386,266 (GRCm39) A380V probably benign Het
F3 T A 3: 121,523,060 (GRCm39) V90E probably damaging Het
Fam171a1 A G 2: 3,226,940 (GRCm39) K691R probably damaging Het
Foxp2 C T 6: 15,415,093 (GRCm39) A609V unknown Het
Hemgn A T 4: 46,396,682 (GRCm39) S185T possibly damaging Het
Hk1 C T 10: 62,151,294 (GRCm39) D33N probably benign Het
Igfbp1 T A 11: 7,151,929 (GRCm39) V244D probably damaging Het
Insr A T 8: 3,211,358 (GRCm39) D1160E probably damaging Het
Irs1 A T 1: 82,265,830 (GRCm39) Y795* probably null Het
Krtap28-10 T C 1: 83,019,808 (GRCm39) K111E unknown Het
Lbx1 T G 19: 45,223,605 (GRCm39) D21A probably benign Het
Map6 G T 7: 98,918,192 (GRCm39) A322S probably benign Het
Mat1a T C 14: 40,843,788 (GRCm39) Y336H probably damaging Het
Mcf2l A G 8: 12,930,003 (GRCm39) I8V probably benign Het
Med12l T C 3: 58,979,303 (GRCm39) V276A probably benign Het
Mettl17 A G 14: 52,122,308 (GRCm39) probably benign Het
Mllt1 T C 17: 57,207,295 (GRCm39) D183G possibly damaging Het
Msmb T A 14: 31,872,217 (GRCm39) C69* probably null Het
Mterf1a A G 5: 3,941,425 (GRCm39) S148P probably damaging Het
Mybl2 A G 2: 162,922,653 (GRCm39) I583V probably benign Het
Nbr1 T A 11: 101,455,520 (GRCm39) D91E probably benign Het
Notch3 A G 17: 32,341,090 (GRCm39) Y2221H probably benign Het
Npat C A 9: 53,481,940 (GRCm39) T1216N probably benign Het
Or14j6 T C 17: 38,215,115 (GRCm39) L226P probably damaging Het
Or2j3 T A 17: 38,615,872 (GRCm39) H160L probably damaging Het
Or8k35 C A 2: 86,424,744 (GRCm39) V143F possibly damaging Het
Pawr T A 10: 108,218,603 (GRCm39) Y170N probably damaging Het
Pde12 T C 14: 26,390,280 (GRCm39) D143G possibly damaging Het
Phactr2 A G 10: 13,129,476 (GRCm39) I264T probably benign Het
Pip5k1b A G 19: 24,374,422 (GRCm39) L53P probably damaging Het
Pknox1 T C 17: 31,818,520 (GRCm39) I251T probably benign Het
Plcxd1 A T 5: 110,249,841 (GRCm39) probably benign Het
Polr3c C T 3: 96,622,517 (GRCm39) probably benign Het
Pramel4 G C 4: 143,795,052 (GRCm39) G483R probably damaging Het
Prdm10 T C 9: 31,238,693 (GRCm39) L195P probably damaging Het
Prss16 A T 13: 22,187,175 (GRCm39) L465Q possibly damaging Het
Psg25 G T 7: 18,263,519 (GRCm39) H101Q possibly damaging Het
Pstpip2 A G 18: 77,934,108 (GRCm39) D55G possibly damaging Het
Rfc1 A T 5: 65,436,135 (GRCm39) D636E possibly damaging Het
Scarf2 G T 16: 17,620,974 (GRCm39) C214F probably damaging Het
Sirt4 T C 5: 115,620,704 (GRCm39) E156G probably damaging Het
Spag6 C T 2: 18,738,928 (GRCm39) S286L probably benign Het
Stx17 T A 4: 48,183,444 (GRCm39) H267Q unknown Het
Tekt3 T C 11: 62,961,058 (GRCm39) C76R probably benign Het
Tln1 A T 4: 43,538,281 (GRCm39) V1807E possibly damaging Het
Tnfrsf21 A G 17: 43,396,372 (GRCm39) D552G probably damaging Het
Ttn C A 2: 76,560,664 (GRCm39) V29246L possibly damaging Het
Usp43 C A 11: 67,789,788 (GRCm39) C252F probably damaging Het
Vmn2r16 T C 5: 109,487,910 (GRCm39) I261T probably benign Het
Vwa5b1 T C 4: 138,308,530 (GRCm39) E769G probably benign Het
Xrn1 T A 9: 95,873,246 (GRCm39) F670Y probably benign Het
Ypel1 T C 16: 16,915,269 (GRCm39) N113S probably benign Het
Zc3h7b G A 15: 81,656,681 (GRCm39) R166Q probably benign Het
Zdhhc14 A T 17: 5,775,570 (GRCm39) Y274F possibly damaging Het
Zeb2 T A 2: 44,886,139 (GRCm39) M973L probably benign Het
Zfp638 T C 6: 83,954,035 (GRCm39) V1380A possibly damaging Het
Other mutations in En1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00672:En1 APN 1 120,534,667 (GRCm39) missense unknown
R1728:En1 UTSW 1 120,531,350 (GRCm39) missense unknown
R1730:En1 UTSW 1 120,531,350 (GRCm39) missense unknown
R1739:En1 UTSW 1 120,531,350 (GRCm39) missense unknown
R1783:En1 UTSW 1 120,531,350 (GRCm39) missense unknown
R1785:En1 UTSW 1 120,531,350 (GRCm39) missense unknown
R1881:En1 UTSW 1 120,530,904 (GRCm39) missense unknown
R1971:En1 UTSW 1 120,534,742 (GRCm39) missense unknown
R2007:En1 UTSW 1 120,531,133 (GRCm39) missense probably benign 0.33
R2279:En1 UTSW 1 120,534,916 (GRCm39) makesense probably null
R4290:En1 UTSW 1 120,531,486 (GRCm39) missense unknown
R4379:En1 UTSW 1 120,531,084 (GRCm39) missense possibly damaging 0.53
R4709:En1 UTSW 1 120,534,872 (GRCm39) missense unknown
R5400:En1 UTSW 1 120,531,324 (GRCm39) missense probably damaging 0.99
R6257:En1 UTSW 1 120,531,636 (GRCm39) missense unknown
R7024:En1 UTSW 1 120,531,051 (GRCm39) missense unknown
R7359:En1 UTSW 1 120,534,817 (GRCm39) missense unknown
R8807:En1 UTSW 1 120,531,090 (GRCm39) missense possibly damaging 0.53
R9168:En1 UTSW 1 120,530,892 (GRCm39) missense unknown
R9339:En1 UTSW 1 120,534,893 (GRCm39) missense unknown
Z1177:En1 UTSW 1 120,534,734 (GRCm39) missense unknown
Z1177:En1 UTSW 1 120,531,392 (GRCm39) missense unknown
Z1177:En1 UTSW 1 120,531,182 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-01-07