Mutagenetix > Incidental Mutation

Incidental Mutation 'R5400:En1'

429909

Institutional Source

Beutler Lab

Gene Symbol

En1

Ensembl Gene

ENSMUSG00000058665

Gene Name

engrailed 1

Synonyms

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

MMRRC Submission

042971-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5400 (G1)

Quality Score

149

Status

Validated

Chromosome

Chromosomal Location

120530246-120535719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120531324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 188 (D188G)

Ref Sequence

ENSEMBL: ENSMUSP00000078659 (fasta)

Gene Model

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

AlphaFold

P09065

Predicted Effect

probably damaging
Transcript: ENSMUST00000079721
AA Change: D188G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078659
Gene: ENSMUSG00000058665
AA Change: D188G

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

0.0597

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (64/65)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	T	C	2: 93,689,767 (GRCm39)	D380G	probably damaging	Het
Afm	T	C	5: 90,699,257 (GRCm39)	L567P	possibly damaging	Het
Anks1b	A	T	10: 90,348,686 (GRCm39)	I785L	probably damaging	Het
Arpc5l	G	A	2: 38,903,747 (GRCm39)	G79S	probably benign	Het
Arvcf	G	T	16: 18,217,820 (GRCm39)	R440L	probably benign	Het
Atm	T	C	9: 53,414,318 (GRCm39)	D924G	probably damaging	Het
Atp8b1	A	T	18: 64,679,060 (GRCm39)		probably null	Het
Cd19	C	T	7: 126,013,624 (GRCm39)	G55D	probably benign	Het
Cd34	A	G	1: 194,621,266 (GRCm39)		probably benign	Het
Cd69	T	A	6: 129,246,954 (GRCm39)	M88L	probably benign	Het
Ces2h	A	G	8: 105,745,057 (GRCm39)	E397G	probably benign	Het
Ddx60	T	C	8: 62,463,036 (GRCm39)	F1306L	possibly damaging	Het
Dennd5b	T	C	6: 148,901,514 (GRCm39)	E1124G	probably damaging	Het
Dio1	A	T	4: 107,164,185 (GRCm39)	M44K	probably damaging	Het
Elapor2	A	T	5: 9,529,247 (GRCm39)	N1027Y	probably damaging	Het
Epha10	C	T	4: 124,807,914 (GRCm39)		probably benign	Het
Fam120b	A	T	17: 15,623,388 (GRCm39)	L455F	possibly damaging	Het
Flt4	AC	ACC	11: 49,541,861 (GRCm39)		probably null	Het
Incenp	A	G	19: 9,855,039 (GRCm39)		probably null	Het
Kansl3	A	G	1: 36,397,230 (GRCm39)	V86A	possibly damaging	Het
Klhl7	C	G	5: 24,331,918 (GRCm39)	F73L	probably damaging	Het
Med28	T	A	5: 45,682,541 (GRCm39)	V69D	probably damaging	Het
Mknk1	C	A	4: 115,721,749 (GRCm39)	L98M	probably damaging	Het
Mknk1	T	A	4: 115,721,750 (GRCm39)	L98Q	probably damaging	Het
Myo3b	T	A	2: 69,935,724 (GRCm39)	C97S	probably damaging	Het
Neto1	A	G	18: 86,414,033 (GRCm39)	H9R	possibly damaging	Het
Omd	A	T	13: 49,745,703 (GRCm39)	E371V	probably benign	Het
Or1n2	A	T	2: 36,797,833 (GRCm39)	I292F	probably damaging	Het
Or2w3b	T	C	11: 58,623,146 (GRCm39)	T282A	possibly damaging	Het
Or4c123	T	C	2: 89,127,257 (GRCm39)	D119G	probably damaging	Het
Or51e2	G	A	7: 102,391,637 (GRCm39)	T191I	probably benign	Het
Osbpl9	G	T	4: 108,919,497 (GRCm39)	Y733*	probably null	Het
Pcdh12	A	T	18: 38,401,951 (GRCm39)	S91R	probably damaging	Het
Pxk	C	A	14: 8,136,911 (GRCm38)	P144Q	probably benign	Het
Qser1	A	G	2: 104,620,219 (GRCm39)	S198P	probably damaging	Het
Recql	T	G	6: 142,308,073 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,184,712 (GRCm39)	D1601G	probably damaging	Het
Scn10a	T	C	9: 119,438,100 (GRCm39)	D1922G	probably damaging	Het
Scn11a	T	A	9: 119,598,974 (GRCm39)	R1185S	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Shoc1	A	G	4: 59,082,432 (GRCm39)	S399P	possibly damaging	Het
Slc13a4	A	T	6: 35,278,777 (GRCm39)	C37*	probably null	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc9a9	T	A	9: 94,594,954 (GRCm39)	F155I	probably damaging	Het
Spef2	T	A	15: 9,614,367 (GRCm39)	K1193M	probably damaging	Het
Swt1	T	C	1: 151,288,585 (GRCm39)	T80A	probably benign	Het
Tmc1	A	G	19: 20,781,966 (GRCm39)	I584T	probably damaging	Het
Tsc22d1	C	A	14: 76,654,494 (GRCm39)	F324L	probably benign	Het
Usp19	T	C	9: 108,377,392 (GRCm39)	V1236A	probably damaging	Het
Vmn2r63	T	C	7: 42,577,635 (GRCm39)	N301S	probably benign	Het
Wrn	C	T	8: 33,784,945 (GRCm39)	V476I	probably benign	Het
Zbed6	G	A	1: 133,585,879 (GRCm39)	T486I	probably damaging	Het
Zbtb25	C	A	12: 76,396,476 (GRCm39)	E249*	probably null	Het
Zfp54	C	A	17: 21,653,962 (GRCm39)	T152K	probably benign	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
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
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'- ACATCCTAAGGCCCGATTTCG -3'
(R):5'- CATGAGTAGGATCGCAGGGTTG -3'

Sequencing Primer
(F):5'- CGATTTCGGTTGCAAAAAGGAAC -3'
(R):5'- GTTCCGGGAACTTGGCG -3'

Posted On

2016-09-06