Mutagenetix > Incidental Mutation

Incidental Mutation 'R1352:Evx1'

156699

Institutional Source

Beutler Lab

Gene Symbol

Evx1

Ensembl Gene

ENSMUSG00000005503

Gene Name

even-skipped homeobox 1

Synonyms

Evx-1

MMRRC Submission

039417-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.523) question?

Stock #

R1352 (G1)

Quality Score

178

Status

Validated

Chromosome

Chromosomal Location

52290483-52295363 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52293995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 388 (S388P)

Ref Sequence

ENSEMBL: ENSMUSP00000031787 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031787] [ENSMUST00000129243]

AlphaFold

P23683

Predicted Effect

probably damaging
Transcript: ENSMUST00000031787
AA Change: S388P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000031787
Gene: ENSMUSG00000005503
AA Change: S388P

Domain	Start	End	E-Value	Type
low complexity region	58	68	N/A	INTRINSIC
low complexity region	72	82	N/A	INTRINSIC
low complexity region	162	173	N/A	INTRINSIC
HOX	183	245	1.07e-26	SMART
low complexity region	289	298	N/A	INTRINSIC
low complexity region	334	356	N/A	INTRINSIC
low complexity region	362	381	N/A	INTRINSIC
low complexity region	393	406	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125305

Predicted Effect

probably benign
Transcript: ENSMUST00000129243

SMART Domains

Protein: ENSMUSP00000119111
Gene: ENSMUSG00000005503

Domain	Start	End	E-Value	Type
low complexity region	58	68	N/A	INTRINSIC
low complexity region	72	82	N/A	INTRINSIC
low complexity region	131	162	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137258

Meta Mutation Damage Score

0.0889

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.5%

Validation Efficiency

95% (42/44)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the even-skipped homeobox family characterized by the presence of a homeodomain closely related to the Drosophila even-skipped (eve) segmentation gene of the pair-rule class. The encoded protein may play an important role as a transcriptional repressor during embryogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a particular targeted mutation are embryonic lethal. Another heritable cre-generated allele exhibits defects of the interneurons of the ventral spinal cord, and rarely, a kinked tail. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	G	7: 45,784,892 (GRCm39)		probably benign	Het
Acbd3	T	A	1: 180,566,095 (GRCm39)	Y263N	probably damaging	Het
Aldh4a1	T	C	4: 139,362,830 (GRCm39)	V142A	probably benign	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cass4	T	C	2: 172,258,415 (GRCm39)	S138P	probably damaging	Het
Cbln4	T	C	2: 171,879,376 (GRCm39)	K171E	possibly damaging	Het
Cd226	A	G	18: 89,265,298 (GRCm39)	Y79C	probably damaging	Het
Dclre1a	T	C	19: 56,533,595 (GRCm39)	D333G	probably damaging	Het
Dst	T	A	1: 34,268,329 (GRCm39)		probably null	Het
Eml5	A	G	12: 98,797,262 (GRCm39)		probably benign	Het
Gins1	T	A	2: 150,772,768 (GRCm39)	L177*	probably null	Het
Gm5422	A	C	10: 31,126,731 (GRCm39)		noncoding transcript	Het
Gmppa	T	A	1: 75,417,178 (GRCm39)	D204E	probably benign	Het
Ifna7	A	C	4: 88,734,897 (GRCm39)	T145P	possibly damaging	Het
Inhbb	T	C	1: 119,348,425 (GRCm39)	D131G	probably benign	Het
Itpr2	T	C	6: 146,013,240 (GRCm39)	K2679E	probably damaging	Het
Kif20b	C	A	19: 34,902,035 (GRCm39)	H4N	probably benign	Het
Kng1	G	T	16: 22,886,444 (GRCm39)		probably null	Het
Lrrfip1	C	T	1: 91,043,089 (GRCm39)	A498V	probably benign	Het
Myo3a	T	A	2: 22,328,486 (GRCm39)		probably null	Het
Nkapl	T	C	13: 21,652,230 (GRCm39)	R128G	unknown	Het
Or51v8	T	C	7: 103,319,518 (GRCm39)	H240R	probably damaging	Het
Or5bw2	A	T	7: 6,573,782 (GRCm39)	Y264F	probably benign	Het
Prlr	T	C	15: 10,328,872 (GRCm39)	V449A	probably benign	Het
Rbm44	C	A	1: 91,080,764 (GRCm39)	D317E	probably damaging	Het
Sirt5	T	C	13: 43,548,283 (GRCm39)	S310P	probably damaging	Het
Spice1	T	C	16: 44,207,185 (GRCm39)	S856P	probably damaging	Het
Sptan1	T	A	2: 29,911,199 (GRCm39)		probably benign	Het
St6gal1	A	G	16: 23,140,401 (GRCm39)	K191E	probably damaging	Het
Stat6	A	T	10: 127,486,680 (GRCm39)	Q152L	probably benign	Het
Stk3	T	C	15: 35,008,371 (GRCm39)	D253G	probably damaging	Het
Tas2r139	C	T	6: 42,117,874 (GRCm39)	A2V	probably benign	Het
Tfpi2	A	G	6: 3,968,281 (GRCm39)	L15P	probably damaging	Het
Topbp1	T	A	9: 103,224,207 (GRCm39)	C1445S	probably benign	Het
Trappc11	A	T	8: 47,978,081 (GRCm39)	H195Q	possibly damaging	Het
Ttc21a	A	T	9: 119,783,718 (GRCm39)	E600V	possibly damaging	Het
Ttn	T	C	2: 76,677,041 (GRCm39)		probably benign	Het
Vmn2r88	T	C	14: 51,656,007 (GRCm39)	S740P	probably damaging	Het
Wrn	A	C	8: 33,784,944 (GRCm39)	V476G	probably benign	Het
Zdbf2	C	A	1: 63,342,212 (GRCm39)	A197E	probably damaging	Het

Other mutations in Evx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03048:Evx1	UTSW	6	52,292,739 (GRCm39)	missense	probably benign	0.03
PIT4802001:Evx1	UTSW	6	52,291,175 (GRCm39)	nonsense	probably null
R3552:Evx1	UTSW	6	52,293,908 (GRCm39)	missense	probably damaging	0.99
R3880:Evx1	UTSW	6	52,290,846 (GRCm39)	missense	probably damaging	1.00
R4351:Evx1	UTSW	6	52,290,846 (GRCm39)	missense	probably damaging	1.00
R4655:Evx1	UTSW	6	52,291,182 (GRCm39)	missense	probably damaging	1.00
R5356:Evx1	UTSW	6	52,293,602 (GRCm39)	missense	probably benign	0.03
R5637:Evx1	UTSW	6	52,292,751 (GRCm39)	missense	possibly damaging	0.46
R5834:Evx1	UTSW	6	52,292,975 (GRCm39)	missense	probably damaging	1.00
R6186:Evx1	UTSW	6	52,291,203 (GRCm39)	critical splice donor site	probably null
R6221:Evx1	UTSW	6	52,293,768 (GRCm39)	missense	probably damaging	0.99
R6390:Evx1	UTSW	6	52,292,842 (GRCm39)	missense	probably benign	0.01
R7085:Evx1	UTSW	6	52,293,677 (GRCm39)	missense	possibly damaging	0.70
R8127:Evx1	UTSW	6	52,290,902 (GRCm39)	missense	possibly damaging	0.87
R8907:Evx1	UTSW	6	52,293,746 (GRCm39)	missense	probably damaging	1.00
R8910:Evx1	UTSW	6	52,293,746 (GRCm39)	missense	probably damaging	1.00
X0018:Evx1	UTSW	6	52,292,981 (GRCm39)	critical splice donor site	probably null
Z1177:Evx1	UTSW	6	52,293,672 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GCCTTCTACACCTACATGATGAGCC -3'
(R):5'- TCCTAAGCAGCCAATGTCGCTTC -3'

Sequencing Primer
(F):5'- TACATGATGAGCCACGCGG -3'
(R):5'- TCCCCTGTGCATCTGAGAAG -3'

Posted On

2014-02-11