Mutagenetix > Incidental Mutation

Incidental Mutation 'R2007:En1'

222436

Institutional Source

Beutler Lab

Gene Symbol

En1

Ensembl Gene

ENSMUSG00000058665

Gene Name

engrailed 1

Synonyms

engrailed-1, En-1, Mo-en.1

MMRRC Submission

040016-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2007 (G1)

Quality Score

160

Status

Validated

Chromosome

Chromosomal Location

120530246-120535719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120531133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 124 (E124D)

Ref Sequence

ENSEMBL: ENSMUSP00000078659 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079721]

AlphaFold

P09065

Predicted Effect

probably benign
Transcript: ENSMUST00000079721
AA Change: E124D

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000078659
Gene: ENSMUSG00000058665
AA Change: E124D

Domain	Start	End	E-Value	Type
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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

96% (66/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,519,855 (GRCm39)	N1387K	probably benign	Het
Abca13	T	C	11: 9,141,987 (GRCm39)	F8L	probably benign	Het
Abcg5	G	T	17: 84,977,348 (GRCm39)	L270M	probably damaging	Het
Acad10	A	G	5: 121,772,814 (GRCm39)	L489S	probably damaging	Het
Acsf2	G	A	11: 94,462,466 (GRCm39)	T183I	possibly damaging	Het
Adamts7	A	T	9: 90,059,909 (GRCm39)	E282V	probably damaging	Het
Adcy4	C	T	14: 56,015,770 (GRCm39)	G440R	possibly damaging	Het
AI429214	G	A	8: 37,460,923 (GRCm39)	V24I	probably benign	Het
Angptl3	T	C	4: 98,925,634 (GRCm39)	I320T	probably damaging	Het
Apoa5	A	T	9: 46,181,665 (GRCm39)	Q247L	possibly damaging	Het
Astn1	T	G	1: 158,436,875 (GRCm39)	V811G	probably damaging	Het
Bard1	C	T	1: 71,070,562 (GRCm39)	V641I	probably benign	Het
Calb2	T	C	8: 110,894,702 (GRCm39)	E23G	probably benign	Het
Cdkl4	A	G	17: 80,863,730 (GRCm39)		probably benign	Het
Cep85l	A	G	10: 53,154,171 (GRCm39)		probably benign	Het
Cfap91	T	C	16: 38,118,616 (GRCm39)	I728V	probably benign	Het
Chd1	G	T	17: 15,951,268 (GRCm39)	G281V	probably damaging	Het
Col17a1	C	T	19: 47,656,141 (GRCm39)	G586E	probably damaging	Het
Cpne3	T	A	4: 19,553,833 (GRCm39)	D66V	probably damaging	Het
Csde1	A	T	3: 102,952,107 (GRCm39)	I204L	probably damaging	Het
Dchs1	A	T	7: 105,404,532 (GRCm39)	V2670E	probably damaging	Het
Ddx10	A	G	9: 53,124,578 (GRCm39)	V428A	probably benign	Het
Dgkh	T	A	14: 78,840,489 (GRCm39)	D530V	probably benign	Het
Dis3l	A	T	9: 64,215,558 (GRCm39)		probably null	Het
Dst	T	G	1: 34,265,093 (GRCm39)		probably benign	Het
Eml6	C	T	11: 29,798,814 (GRCm39)		probably null	Het
Exo1	G	A	1: 175,736,096 (GRCm39)	E827K	probably damaging	Het
Fktn	T	C	4: 53,735,099 (GRCm39)	F246L	possibly damaging	Het
Fndc1	G	A	17: 7,997,580 (GRCm39)		probably benign	Het
Foxp2	G	A	6: 15,396,818 (GRCm39)	C381Y	probably damaging	Het
Galnt6	A	T	15: 100,595,047 (GRCm39)	Y485N	probably damaging	Het
Gemin4	G	A	11: 76,103,444 (GRCm39)	A439V	possibly damaging	Het
Gpatch8	A	G	11: 102,391,657 (GRCm39)	I155T	unknown	Het
Hmcn2	A	G	2: 31,328,267 (GRCm39)	D4316G	possibly damaging	Het
Hnrnpr	T	A	4: 136,046,824 (GRCm39)		probably benign	Het
Hpx	G	A	7: 105,244,781 (GRCm39)	R135C	probably damaging	Het
Khdrbs2	T	G	1: 32,559,629 (GRCm39)	E151A	probably benign	Het
Krt6b	A	T	15: 101,586,562 (GRCm39)	L309H	probably damaging	Het
Lce1c	G	T	3: 92,587,765 (GRCm39)	C64F	unknown	Het
Marchf6	C	T	15: 31,462,087 (GRCm39)		probably null	Het
Myt1	C	A	2: 181,437,552 (GRCm39)	R88S	probably benign	Het
Nemp1	A	G	10: 127,529,446 (GRCm39)	S194G	probably benign	Het
Nphp4	A	G	4: 152,639,111 (GRCm39)	K914R	probably damaging	Het
Or3a1	T	A	11: 74,225,212 (GRCm39)	T282S	possibly damaging	Het
Osbp	T	C	19: 11,951,265 (GRCm39)	M270T	probably benign	Het
Parg	T	C	14: 31,932,531 (GRCm39)	M457T	possibly damaging	Het
Phf20	T	C	2: 156,129,874 (GRCm39)	M482T	probably benign	Het
Pik3c2a	G	A	7: 115,941,472 (GRCm39)	T1598I	probably damaging	Het
Pkd1	T	C	17: 24,798,759 (GRCm39)	M2689T	probably damaging	Het
Plxnd1	A	T	6: 115,944,216 (GRCm39)	V1091E	probably damaging	Het
Ptcd2	A	T	13: 99,456,744 (GRCm39)	L360Q	probably damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Serpinc1	A	T	1: 160,821,110 (GRCm39)	T65S	probably benign	Het
Sipa1l2	G	A	8: 126,166,176 (GRCm39)	T1486I	probably damaging	Het
Snrnp200	T	C	2: 127,068,968 (GRCm39)	L949P	probably damaging	Het
Ssc5d	T	G	7: 4,931,628 (GRCm39)	C278W	probably damaging	Het
Tbc1d14	T	G	5: 36,728,718 (GRCm39)	H216P	possibly damaging	Het
Tmem183a	A	G	1: 134,277,861 (GRCm39)	F301S	probably damaging	Het
Tmem233	A	C	5: 116,189,496 (GRCm39)	N94K	possibly damaging	Het
Tmprss13	A	G	9: 45,243,843 (GRCm39)	D193G	probably damaging	Het
Tprkb	T	C	6: 85,910,030 (GRCm39)		probably benign	Het
Tram1l1	A	G	3: 124,115,488 (GRCm39)	H216R	possibly damaging	Het
Ttn	A	G	2: 76,564,484 (GRCm39)	V28551A	probably damaging	Het
Ubtfl1	A	G	9: 18,320,547 (GRCm39)	N25S	possibly damaging	Het
Unc80	C	A	1: 66,542,935 (GRCm39)	N396K	probably damaging	Het
Vmn1r171	T	C	7: 23,332,012 (GRCm39)	L79P	probably damaging	Het
Vmn2r115	G	T	17: 23,566,927 (GRCm39)	V480F	possibly damaging	Het
Xpo4	T	C	14: 57,824,101 (GRCm39)	I995V	probably null	Het

Other mutations in En1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- AGCCGGAGCCTAAAAGTCAG -3'
(R):5'- ATCTGGAGCACACAAGAGCG -3'

Sequencing Primer
(F):5'- TCAGTCTGAGTCTGAGCCCAG -3'
(R):5'- CACAAGAGCGAGGCAGCC -3'

Posted On

2014-08-25