Incidental Mutation 'R4290:En1'
ID 322977
Institutional Source Beutler Lab
Gene Symbol En1
Ensembl Gene ENSMUSG00000058665
Gene Name engrailed 1
Synonyms engrailed-1, En-1, Mo-en.1
MMRRC Submission 041655-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4290 (G1)
Quality Score 202
Status Validated
Chromosome 1
Chromosomal Location 120530246-120535719 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 120531486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 242 (A242E)
Ref Sequence ENSEMBL: ENSMUSP00000078659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079721]
AlphaFold P09065
Predicted Effect unknown
Transcript: ENSMUST00000079721
AA Change: A242E
SMART Domains Protein: ENSMUSP00000078659
Gene: ENSMUSG00000058665
AA Change: A242E

DomainStartEndE-ValueType
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 0.0755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (73/73)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,539,738 (GRCm39) N1545S probably benign Het
Arid1b C A 17: 5,090,938 (GRCm39) S546R probably damaging Het
Arid3b A T 9: 57,697,713 (GRCm39) probably benign Het
Atf6b T A 17: 34,871,648 (GRCm39) M428K probably benign Het
Atpaf1 A T 4: 115,645,556 (GRCm39) M142L probably benign Het
Auts2 A G 5: 131,503,809 (GRCm39) S225P probably damaging Het
Bclaf1 A G 10: 20,199,524 (GRCm39) Q20R probably damaging Het
Bivm A T 1: 44,177,793 (GRCm39) R364S probably damaging Het
Brwd1 G A 16: 95,818,804 (GRCm39) P1343S probably damaging Het
Cckar A G 5: 53,863,839 (GRCm39) S41P probably benign Het
Cfap221 A G 1: 119,858,650 (GRCm39) S728P probably benign Het
Chrna9 A G 5: 66,134,481 (GRCm39) K444R probably benign Het
Cox10 A T 11: 63,855,081 (GRCm39) V400E probably benign Het
Dact2 C T 17: 14,416,833 (GRCm39) E456K probably benign Het
Ddr2 A G 1: 169,818,178 (GRCm39) V443A probably benign Het
Dlg3 A T X: 99,840,288 (GRCm39) probably benign Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Gm6124 A T 7: 38,872,195 (GRCm39) noncoding transcript Het
Gucy1a1 A T 3: 82,002,066 (GRCm39) F671Y possibly damaging Het
Hddc2 A T 10: 31,190,583 (GRCm39) M48L possibly damaging Het
Hepacam2 T A 6: 3,487,237 (GRCm39) Y40F probably benign Het
Ift80 A G 3: 68,871,023 (GRCm39) I191T probably damaging Het
Il19 T A 1: 130,862,750 (GRCm39) T58S possibly damaging Het
Itga2 G A 13: 115,002,709 (GRCm39) R594C probably damaging Het
Itga5 C T 15: 103,260,684 (GRCm39) probably null Het
Kcna1 T C 6: 126,618,838 (GRCm39) D494G probably damaging Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Kmt2b A T 7: 30,281,261 (GRCm39) probably null Het
Kmt5b T C 19: 3,852,193 (GRCm39) Y125H possibly damaging Het
Lbr C T 1: 181,648,267 (GRCm39) C398Y probably damaging Het
Lmf1 T C 17: 25,873,455 (GRCm39) L320P probably damaging Het
Man1c1 T A 4: 134,291,096 (GRCm39) D600V probably damaging Het
Mapkapk3 T C 9: 107,136,131 (GRCm39) probably benign Het
Mccc1 A G 3: 36,044,217 (GRCm39) V203A probably damaging Het
Mettl5 T C 2: 69,711,176 (GRCm39) N114S probably benign Het
Mindy2 T A 9: 70,538,376 (GRCm39) R320W probably damaging Het
Nrip1 A G 16: 76,088,876 (GRCm39) S894P probably benign Het
Nup210l A T 3: 90,114,633 (GRCm39) H1736L probably benign Het
Or14c46 A T 7: 85,918,968 (GRCm39) F10I probably damaging Het
Or2aj4 A T 16: 19,384,994 (GRCm39) M213K possibly damaging Het
Or2v2 T A 11: 49,004,254 (GRCm39) I100L probably benign Het
Or2z9 A G 8: 72,853,612 (GRCm39) T3A probably benign Het
Or4e1 T C 14: 52,701,442 (GRCm39) N8S probably damaging Het
Or6b6 A C 7: 106,570,918 (GRCm39) L211R probably damaging Het
Or8d2b A G 9: 38,788,609 (GRCm39) I46V probably damaging Het
Pcdhb5 T A 18: 37,455,734 (GRCm39) S705T possibly damaging Het
Phf14 C T 6: 11,987,096 (GRCm39) P559S probably damaging Het
Plpp4 A G 7: 128,909,356 (GRCm39) E22G probably damaging Het
Ppp4c A G 7: 126,391,231 (GRCm39) probably null Het
Rps15a-ps1 A G 10: 106,028,496 (GRCm39) noncoding transcript Het
Rps27a A G 11: 29,495,933 (GRCm39) Y140H probably benign Het
Sash1 A G 10: 8,606,006 (GRCm39) S795P possibly damaging Het
Slc22a21 T C 11: 53,860,329 (GRCm39) D34G probably damaging Het
Srsf6 T C 2: 162,776,636 (GRCm39) probably benign Het
Stk32c T C 7: 138,700,704 (GRCm39) probably null Het
Tmem237 A G 1: 59,158,995 (GRCm39) probably benign Het
Ttc19 A G 11: 62,176,753 (GRCm39) probably null Het
Ttf2 T C 3: 100,870,077 (GRCm39) D332G probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vcan A G 13: 89,873,605 (GRCm39) V83A probably damaging Het
Vmn1r192 T A 13: 22,371,465 (GRCm39) I252F probably damaging Het
Vmn2r101 A T 17: 19,832,303 (GRCm39) R766S probably damaging Het
Xndc1 T A 7: 101,730,694 (GRCm39) L288M possibly damaging Het
Zfa-ps A T 10: 52,419,807 (GRCm39) noncoding transcript 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
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
R8865:En1 UTSW 1 120,530,729 (GRCm39) start gained probably benign
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
(F):5'- CTCTTGTGTGCTCCAGATGC -3'
(R):5'- GCCTGGACACATATGCACATCC -3'

Sequencing Primer
(F):5'- TGCTCCAGATGCGAACTGTG -3'
(R):5'- ATATGCACATCCCGGCTCG -3'
Posted On 2015-06-20