Mutagenetix > Incidental Mutation

Incidental Mutation 'R7024:En1'

545818

Institutional Source

Beutler Lab

Gene Symbol

En1

Ensembl Gene

ENSMUSG00000058665

Gene Name

engrailed 1

Synonyms

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

MMRRC Submission

045125-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7024 (G1)

Quality Score

201.009

Status

Not validated

Chromosome

Chromosomal Location

120530246-120535719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 120531051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 97 (P97L)

Ref Sequence

ENSEMBL: ENSMUSP00000078659 (fasta)

Gene Model

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

AlphaFold

P09065

Predicted Effect

unknown
Transcript: ENSMUST00000079721
AA Change: P97L

SMART Domains

Protein: ENSMUSP00000078659
Gene: ENSMUSG00000058665
AA Change: P97L

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (61/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	A	G	16: 88,424,108 (GRCm39)	S128P	probably damaging	Het
Abcc1	G	C	16: 14,231,247 (GRCm39)		probably null	Het
Atg2a	G	A	19: 6,300,249 (GRCm39)	G686S	possibly damaging	Het
Atrnl1	A	T	19: 57,626,882 (GRCm39)		probably null	Het
Brd4	T	C	17: 32,440,884 (GRCm39)		probably benign	Het
Camsap3	A	G	8: 3,658,242 (GRCm39)	E688G	probably damaging	Het
Cc2d2a	T	A	5: 43,891,271 (GRCm39)	S1402R	probably benign	Het
Ccnb1	A	G	13: 100,922,888 (GRCm39)		probably null	Het
Cdc42bpb	G	A	12: 111,292,519 (GRCm39)	H339Y	probably damaging	Het
Ciart	T	A	3: 95,786,392 (GRCm39)	T94S	probably benign	Het
Col6a5	T	A	9: 105,789,674 (GRCm39)	K1540*	probably null	Het
Csmd3	A	T	15: 47,574,387 (GRCm39)	V1969E	probably damaging	Het
Dgka	T	G	10: 128,556,356 (GRCm39)	N710T	probably damaging	Het
Dock6	A	G	9: 21,731,666 (GRCm39)	V1212A	probably benign	Het
Dync2i2	A	G	2: 29,928,278 (GRCm39)	V116A	possibly damaging	Het
Esd	T	A	14: 74,982,102 (GRCm39)	F172L	probably damaging	Het
Gfer	C	A	17: 24,914,942 (GRCm39)	D34Y	probably damaging	Het
Gm2832	G	A	14: 41,001,696 (GRCm39)	M68I		Het
Hmgcr	A	G	13: 96,795,418 (GRCm39)	S384P	probably benign	Het
Hsp90aa1	T	C	12: 110,660,546 (GRCm39)	T299A	possibly damaging	Het
Igsf10	A	G	3: 59,239,122 (GRCm39)	M353T	probably benign	Het
Ino80b	T	C	6: 83,099,306 (GRCm39)	T211A	probably benign	Het
Lamb2	C	A	9: 108,366,687 (GRCm39)	T1607K	probably benign	Het
Lhfpl5	A	G	17: 28,801,957 (GRCm39)	E218G	probably benign	Het
Lpo	C	A	11: 87,707,269 (GRCm39)	C248F	probably damaging	Het
Lrrc3	C	T	10: 77,736,825 (GRCm39)	D204N	probably damaging	Het
Mavs	C	A	2: 131,085,051 (GRCm39)	L160I	probably benign	Het
Morn4	C	T	19: 42,066,483 (GRCm39)	D35N	possibly damaging	Het
Mroh8	G	A	2: 157,063,183 (GRCm39)	H813Y	probably benign	Het
Myf6	T	C	10: 107,330,390 (GRCm39)	E59G	probably damaging	Het
Nhsl3	T	A	4: 129,119,201 (GRCm39)	E173V	probably null	Het
Nlrp10	T	A	7: 108,524,405 (GRCm39)	E358D	possibly damaging	Het
Odad2	A	C	18: 7,211,593 (GRCm39)	D760E	probably benign	Het
Optn	T	C	2: 5,057,648 (GRCm39)		probably null	Het
Or12e8	A	G	2: 87,188,066 (GRCm39)	T93A	probably benign	Het
Or13a19	T	C	7: 139,902,759 (GRCm39)	I49T	possibly damaging	Het
Or1e1d-ps1	T	A	11: 73,819,332 (GRCm39)	L94*	probably null	Het
Or1o1	T	C	17: 37,717,095 (GRCm39)	F219L	probably benign	Het
Or5g9	T	A	2: 85,551,952 (GRCm39)	F68I	probably damaging	Het
Or7g28	T	C	9: 19,272,579 (GRCm39)	E24G	possibly damaging	Het
Plxna4	T	A	6: 32,169,204 (GRCm39)	H1331L	probably damaging	Het
Poli	A	T	18: 70,649,920 (GRCm39)	M357K	possibly damaging	Het
Psd4	T	G	2: 24,284,555 (GRCm39)	C140G	possibly damaging	Het
Rab3gap1	T	A	1: 127,818,835 (GRCm39)		probably null	Het
Rasa3	T	C	8: 13,681,826 (GRCm39)	N41S	probably benign	Het
Rps6kc1	A	G	1: 190,532,407 (GRCm39)	S532P	probably benign	Het
S100a3	T	A	3: 90,509,747 (GRCm39)		probably null	Het
Sfrp5	T	C	19: 42,190,204 (GRCm39)	K83E	possibly damaging	Het
Slco1a4	T	C	6: 141,780,434 (GRCm39)	I119V	probably benign	Het
Snx15	T	A	19: 6,170,626 (GRCm39)	Q271L	probably damaging	Het
Sorcs2	C	A	5: 36,178,605 (GRCm39)	S1128I	probably damaging	Het
Tbc1d7	A	T	13: 43,308,211 (GRCm39)	F85I	probably damaging	Het
Thoc7	A	G	14: 13,953,528 (GRCm38)	Y46H	probably damaging	Het
Top1mt	T	A	15: 75,539,297 (GRCm39)	Y366F	probably damaging	Het
Trpv2	C	A	11: 62,475,287 (GRCm39)	S233R	probably benign	Het
Vav1	C	A	17: 57,586,268 (GRCm39)	T24N	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdfy4	G	T	14: 32,686,583 (GRCm39)		probably null	Het
Wdr3	A	G	3: 100,062,313 (GRCm39)	S201P	probably benign	Het
Wfs1	C	T	5: 37,124,294 (GRCm39)	D866N	probably damaging	Het
Wnk1	A	T	6: 119,942,687 (GRCm39)		probably benign	Het
Xpot	G	T	10: 121,438,304 (GRCm39)	Q762K	probably benign	Het
Zfp287	A	T	11: 62,605,764 (GRCm39)	L370H	possibly damaging	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
R5400:En1	UTSW	1	120,531,324 (GRCm39)	missense	probably damaging	0.99
R6257:En1	UTSW	1	120,531,636 (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'- ATCTGGAGCACACAAGAGC -3'

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

Posted On

2019-05-13