Mutagenetix > Incidental Mutation

Incidental Mutation 'R4379:En1'

325223

Institutional Source

Beutler Lab

Gene Symbol

En1

Ensembl Gene

ENSMUSG00000058665

Gene Name

engrailed 1

Synonyms

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

MMRRC Submission

041677-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4379 (G1)

Quality Score

216

Status

Not validated

Chromosome

Chromosomal Location

120530246-120535719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120531084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 108 (N108S)

Ref Sequence

ENSEMBL: ENSMUSP00000078659 (fasta)

Gene Model

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

AlphaFold

P09065

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079721
AA Change: N108S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000078659
Gene: ENSMUSG00000058665
AA Change: N108S

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

95% (53/56)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	A	5: 8,915,875 (GRCm39)	H1252Q	probably benign	Het
Adcy3	T	C	12: 4,184,558 (GRCm39)	L78P	probably damaging	Het
Agmat	G	T	4: 141,484,802 (GRCm39)	A282S	probably benign	Het
Akap8	G	T	17: 32,525,534 (GRCm39)	T515K	probably damaging	Het
Akap8l	T	C	17: 32,540,488 (GRCm39)		probably benign	Het
Alpk1	C	T	3: 127,523,022 (GRCm39)	V7M	probably damaging	Het
AW209491	T	C	13: 14,812,412 (GRCm39)	*422Q	probably null	Het
Cdan1	A	G	2: 120,557,099 (GRCm39)	F576L	probably damaging	Het
Cers5	A	G	15: 99,649,134 (GRCm39)	F45L	probably damaging	Het
Dst	A	G	1: 34,267,056 (GRCm39)	I5011V	probably benign	Het
Dst	T	C	1: 34,202,316 (GRCm39)	S215P	probably damaging	Het
Entrep3	A	T	3: 89,093,064 (GRCm39)	D274V	probably damaging	Het
Fancd2	T	C	6: 113,538,677 (GRCm39)	S591P	probably benign	Het
Glt1d1	T	C	5: 127,771,346 (GRCm39)	V279A	possibly damaging	Het
Gm10051	C	T	5: 133,504,287 (GRCm39)		noncoding transcript	Het
Gpr158	G	T	2: 21,830,025 (GRCm39)	G690V	probably damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Grm7	T	A	6: 111,223,335 (GRCm39)	N458K	probably benign	Het
Hibadh	G	A	6: 52,597,027 (GRCm39)	S139L	probably damaging	Het
Hivep1	C	T	13: 42,308,906 (GRCm39)	S382F	probably damaging	Het
Ift74	A	G	4: 94,568,171 (GRCm39)	N403D	probably benign	Het
Igkv4-81	A	G	6: 68,967,933 (GRCm39)	L56S	probably damaging	Het
Igsf9b	G	A	9: 27,220,774 (GRCm39)	V47I	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lmbr1l	G	T	15: 98,807,144 (GRCm39)	C212*	probably null	Het
Lrp10	C	T	14: 54,705,823 (GRCm39)	R338C	probably damaging	Het
Lrrc34	A	G	3: 30,685,524 (GRCm39)	L275P	probably damaging	Het
Mgam2-ps	T	C	6: 40,810,793 (GRCm39)		noncoding transcript	Het
Mief1	T	G	15: 80,132,160 (GRCm39)	M77R	possibly damaging	Het
Neurod6	T	C	6: 55,656,257 (GRCm39)	T127A	probably damaging	Het
Nif3l1	A	C	1: 58,494,738 (GRCm39)		probably benign	Het
Nlrp12	T	A	7: 3,288,554 (GRCm39)	T653S	probably benign	Het
Nol7	G	T	13: 43,555,051 (GRCm39)	W228L	probably damaging	Het
Nrp1	G	A	8: 129,194,948 (GRCm39)	R468H	probably damaging	Het
Or5ac15	C	T	16: 58,940,027 (GRCm39)	M135I	probably benign	Het
Or7g34	A	G	9: 19,478,038 (GRCm39)	L211P	probably benign	Het
Pbrm1	A	T	14: 30,789,663 (GRCm39)	H785L	probably damaging	Het
Pus7	T	C	5: 23,953,864 (GRCm39)		probably benign	Het
Qser1	G	T	2: 104,596,404 (GRCm39)		probably null	Het
Rrm1	T	C	7: 102,095,800 (GRCm39)	V51A	probably damaging	Het
Setbp1	T	C	18: 79,129,896 (GRCm39)	N112S	probably damaging	Het
Svil	C	T	18: 5,046,909 (GRCm39)	H52Y	probably damaging	Het
Taf1d	T	A	9: 15,223,277 (GRCm39)		probably benign	Het
Tle1	ACAGGTTTCTTCAGGTTTCTT	ACAGGTTTCTT	4: 72,036,400 (GRCm39)		probably benign	Het
Treml1	A	G	17: 48,667,424 (GRCm39)	Y103C	probably damaging	Het
Trim28	A	T	7: 12,763,407 (GRCm39)	D516V	probably damaging	Het
Usp34	T	A	11: 23,334,499 (GRCm39)	N1164K	possibly damaging	Het
Vmn2r115	A	G	17: 23,564,197 (GRCm39)	Y123C	possibly damaging	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Zfp28	C	T	7: 6,396,441 (GRCm39)	T292I	probably benign	Het
Zmynd8	A	T	2: 165,649,858 (GRCm39)		probably null	Het
Zscan4d	A	G	7: 10,898,905 (GRCm39)	V124A	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
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'- AGCCTAAAAGTCAGCGCGAC -3'
(R):5'- CATCTGGAGCACACAAGAGC -3'

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

Posted On

2015-07-06