Incidental Mutation 'R4709:En1'
ID 355453
Institutional Source Beutler Lab
Gene Symbol En1
Ensembl Gene ENSMUSG00000058665
Gene Name engrailed 1
Synonyms engrailed-1, En-1, Mo-en.1
MMRRC Submission 042018-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4709 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 120530246-120535719 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120534872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 387 (Y387F)
Ref Sequence ENSEMBL: ENSMUSP00000078659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079721]
AlphaFold P09065
Predicted Effect unknown
Transcript: ENSMUST00000079721
AA Change: Y387F
SMART Domains Protein: ENSMUSP00000078659
Gene: ENSMUSG00000058665
AA Change: Y387F

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 0.1617 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 97% (77/79)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 G A 17: 36,271,069 (GRCm39) T463M probably damaging Het
Arhgap35 C T 7: 16,297,511 (GRCm39) G518D probably damaging Het
Arhgdia A G 11: 120,470,517 (GRCm39) Y110H probably damaging Het
Atp8b3 T C 10: 80,372,604 (GRCm39) probably null Het
Bpifb6 T A 2: 153,750,436 (GRCm39) I309N possibly damaging Het
Cbr4 T C 8: 61,943,061 (GRCm39) V77A possibly damaging Het
Cers2 A G 3: 95,227,534 (GRCm39) Y54C possibly damaging Het
Cnbp A T 6: 87,821,120 (GRCm39) H145Q probably damaging Het
Csmd1 A T 8: 16,073,905 (GRCm39) I2030N possibly damaging Het
Csmd1 A G 8: 16,760,522 (GRCm39) probably null Het
Dhodh T C 8: 110,328,170 (GRCm39) probably null Het
Dnah11 T A 12: 117,982,495 (GRCm39) Y2558F probably benign Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
Ephb2 C A 4: 136,423,363 (GRCm39) C305F probably damaging Het
Fryl A G 5: 73,238,315 (GRCm39) V1477A probably benign Het
Gimap3 A T 6: 48,742,327 (GRCm39) L201Q probably benign Het
Gm10801 T G 2: 98,494,246 (GRCm39) probably null Het
Grhl1 A G 12: 24,636,132 (GRCm39) I283V possibly damaging Het
Grid2ip T A 5: 143,374,658 (GRCm39) L926H probably damaging Het
Gtf2h2 G T 13: 100,605,523 (GRCm39) C82* probably null Het
Gtf2ird1 T C 5: 134,433,588 (GRCm39) T280A probably benign Het
Gzmd T C 14: 56,367,698 (GRCm39) I192V probably null Het
Hectd1 A G 12: 51,834,695 (GRCm39) V855A possibly damaging Het
Hey1 A G 3: 8,730,963 (GRCm39) probably benign Het
Hpx A G 7: 105,249,243 (GRCm39) S19P probably benign Het
Incenp G A 19: 9,853,964 (GRCm39) R696W unknown Het
Itgam T C 7: 127,700,709 (GRCm39) V493A probably damaging Het
Ldlrad3 A G 2: 101,900,343 (GRCm39) I53T probably damaging Het
Map3k7 G T 4: 31,985,700 (GRCm39) E208* probably null Het
Myh9 A T 15: 77,671,717 (GRCm39) I458N probably damaging Het
Myo1c C T 11: 75,560,856 (GRCm39) R770* probably null Het
Nectin3 T A 16: 46,284,306 (GRCm39) Y126F possibly damaging Het
Nek5 A T 8: 22,573,443 (GRCm39) N504K probably damaging Het
Nlrp4c T A 7: 6,068,424 (GRCm39) H108Q probably benign Het
Or10d5 A T 9: 39,861,165 (GRCm39) L301M probably damaging Het
Or2ak4 T C 11: 58,649,013 (GRCm39) V174A possibly damaging Het
Or2at1 A T 7: 99,416,989 (GRCm39) I207F probably damaging Het
Or5h17 A T 16: 58,820,458 (GRCm39) T137S probably benign Het
Or9a2 G T 6: 41,748,442 (GRCm39) Q264K probably benign Het
Or9i14 T A 19: 13,792,814 (GRCm39) I47F possibly damaging Het
Parp6 T C 9: 59,549,052 (GRCm39) I507T probably damaging Het
Pcdhb12 A G 18: 37,570,548 (GRCm39) T565A probably benign Het
Pclo A G 5: 14,828,572 (GRCm39) N4676D unknown Het
Pdlim1 T A 19: 40,211,180 (GRCm39) H278L probably benign Het
Pfkfb3 G A 2: 11,498,719 (GRCm39) T46M probably damaging Het
Plscr2 A G 9: 92,173,067 (GRCm39) Y203C probably damaging Het
Plxna1 T C 6: 89,311,733 (GRCm39) D924G possibly damaging Het
Postn T A 3: 54,292,031 (GRCm39) probably benign Het
Ptpn23 A G 9: 110,217,924 (GRCm39) S674P possibly damaging Het
Ranbp6 C T 19: 29,788,984 (GRCm39) R456Q probably benign Het
Rbm43 A T 2: 51,819,728 (GRCm39) V46E probably damaging Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Rtn4r A G 16: 17,969,046 (GRCm39) Y158C probably damaging Het
Ryr2 A G 13: 11,731,884 (GRCm39) I2352T probably damaging Het
Sbk2 G T 7: 4,960,577 (GRCm39) R198S possibly damaging Het
Scube3 G A 17: 28,386,166 (GRCm39) probably null Het
Slc45a1 G A 4: 150,722,697 (GRCm39) P396S probably benign Het
Slc4a10 A G 2: 62,087,861 (GRCm39) D418G probably null Het
Smarcad1 A G 6: 65,052,099 (GRCm39) T411A probably benign Het
Smtn G A 11: 3,474,663 (GRCm39) S716F probably damaging Het
Stag1 G T 9: 100,620,092 (GRCm39) R65L probably damaging Het
Stat1 A T 1: 52,165,680 (GRCm39) D92V probably damaging Het
Ttn A G 2: 76,582,428 (GRCm39) Y22822H probably damaging Het
Vmn1r172 A G 7: 23,359,606 (GRCm39) T164A probably benign Het
Vmn2r118 A T 17: 55,917,860 (GRCm39) D217E probably damaging Het
Vmn2r26 A G 6: 124,030,924 (GRCm39) E553G probably damaging Het
Vmn2r96 T C 17: 18,803,088 (GRCm39) F333L probably benign Het
Ypel5 G A 17: 73,155,726 (GRCm39) R98H probably benign Het
Zfp719 C T 7: 43,239,656 (GRCm39) H415Y probably damaging Het
Zyg11a T C 4: 108,062,268 (GRCm39) S176G probably benign 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
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'- AGCAGCTGCAGAGACTCAAG -3'
(R):5'- ACTCGGAGGATTGCTTTCTC -3'

Sequencing Primer
(F):5'- ACTCAAGGCGGAGTTCCAG -3'
(R):5'- CGGAGGATTGCTTTCTCTTGCTC -3'
Posted On 2015-10-21