Mutagenetix > Incidental Mutation

Incidental Mutation 'R4655:Evx1'

352350

Institutional Source

Beutler Lab

Gene Symbol

Evx1

Ensembl Gene

ENSMUSG00000005503

Gene Name

even-skipped homeobox 1

Synonyms

Evx-1

MMRRC Submission

041915-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.497) question?

Stock #

R4655 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52290483-52295363 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52291182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 118 (D118V)

Ref Sequence

ENSEMBL: ENSMUSP00000119111 (fasta)

Gene Model

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

AlphaFold

P23683

Predicted Effect

probably damaging
Transcript: ENSMUST00000031787
AA Change: D118V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031787
Gene: ENSMUSG00000005503
AA Change: D118V

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 damaging
Transcript: ENSMUST00000129243
AA Change: D118V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119111
Gene: ENSMUSG00000005503
AA Change: D118V

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

0.2725

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

96% (79/82)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,314,778 (GRCm39)	V300A	probably benign	Het
Aadacl4fm2	A	T	4: 144,281,645 (GRCm39)	F382L	probably benign	Het
Abca4	A	G	3: 121,941,147 (GRCm39)	N405S	possibly damaging	Het
Acsl3	A	G	1: 78,668,063 (GRCm39)	T212A	probably damaging	Het
Ahnak	A	G	19: 8,986,065 (GRCm39)	K2450E	probably damaging	Het
Akap9	G	A	5: 4,096,403 (GRCm39)	R2426H	probably benign	Het
Akr1c6	T	C	13: 4,499,428 (GRCm39)	V266A	probably damaging	Het
Ccs	A	G	19: 4,889,232 (GRCm39)	V11A	probably benign	Het
Cdc14a	T	A	3: 116,122,136 (GRCm39)	H228L	probably damaging	Het
Cgn	G	A	3: 94,686,559 (GRCm39)	Q248*	probably null	Het
Cux2	G	A	5: 122,023,997 (GRCm39)	T92M	possibly damaging	Het
Cyb5r4	A	G	9: 86,941,482 (GRCm39)	K68E	probably benign	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Dnah9	T	C	11: 65,846,558 (GRCm39)	N2918S	probably benign	Het
Dyrk1b	T	C	7: 27,885,176 (GRCm39)	V438A	probably damaging	Het
Eml1	G	A	12: 108,500,972 (GRCm39)	D625N	probably damaging	Het
Eno2	T	C	6: 124,740,889 (GRCm39)		probably null	Het
Ephb3	G	A	16: 21,040,958 (GRCm39)	G672D	probably damaging	Het
Fbxl13	A	G	5: 21,787,037 (GRCm39)	L300S	probably damaging	Het
Fbxo30	T	C	10: 11,166,837 (GRCm39)	F520L	probably damaging	Het
Flt3	G	A	5: 147,286,403 (GRCm39)	P728S	possibly damaging	Het
Gas2l2	T	C	11: 83,314,001 (GRCm39)	E437G	possibly damaging	Het
Gldc	A	T	19: 30,138,102 (GRCm39)		probably benign	Het
Gm18856	T	C	13: 14,140,232 (GRCm39)		probably benign	Het
Gm7358	A	T	17: 14,279,410 (GRCm39)		noncoding transcript	Het
Grifin	A	G	5: 140,550,300 (GRCm39)	V47A	possibly damaging	Het
H3c7	T	C	13: 23,728,923 (GRCm39)	V90A	probably benign	Het
Hddc2	G	T	10: 31,204,016 (GRCm39)		probably benign	Het
Hkdc1	T	A	10: 62,236,242 (GRCm39)	R433S	probably benign	Het
Htt	A	G	5: 35,063,476 (GRCm39)	D2918G	probably benign	Het
Itga2	A	C	13: 115,009,805 (GRCm39)	D383E	probably benign	Het
Itpr1	G	A	6: 108,458,254 (GRCm39)	C2007Y	probably damaging	Het
Krt42	C	A	11: 100,160,671 (GRCm39)	Q9H	probably damaging	Het
Lyrm7	T	C	11: 54,739,434 (GRCm39)	Q72R	probably damaging	Het
Mmp9	A	G	2: 164,793,122 (GRCm39)	S424G	probably benign	Het
Mtr	A	G	13: 12,242,679 (GRCm39)	V457A	probably damaging	Het
Myo15b	T	C	11: 115,781,523 (GRCm39)	L1359P	probably damaging	Het
Neb	A	G	2: 52,117,311 (GRCm39)	L4087P	probably damaging	Het
Npl	T	C	1: 153,391,152 (GRCm39)	D201G	probably damaging	Het
Or1af1	A	G	2: 37,109,885 (GRCm39)	N128S	probably benign	Het
Or8b1c	C	A	9: 38,384,120 (GRCm39)	P26T	probably damaging	Het
Or8k3	A	G	2: 86,059,037 (GRCm39)	S93P	probably benign	Het
Pclo	T	C	5: 14,732,397 (GRCm39)		probably benign	Het
Pdp2	A	G	8: 105,321,168 (GRCm39)	D339G	probably benign	Het
Pfdn6	A	T	17: 34,159,014 (GRCm39)	Y16*	probably null	Het
Pilra	C	T	5: 137,833,588 (GRCm39)		probably null	Het
Prrc2a	A	T	17: 35,374,590 (GRCm39)	N1353K	probably benign	Het
Prss3l	T	A	6: 41,422,984 (GRCm39)	I6F	probably benign	Het
Ptger4	C	A	15: 5,272,545 (GRCm39)	A50S	probably benign	Het
Pus10	T	C	11: 23,622,707 (GRCm39)	V109A	probably benign	Het
Pus3	A	C	9: 35,476,228 (GRCm39)	D39A	probably benign	Het
Rab44	A	G	17: 29,358,168 (GRCm39)	N119D	probably benign	Het
Rasgrp2	T	C	19: 6,454,876 (GRCm39)		probably benign	Het
Rhobtb2	T	A	14: 70,033,438 (GRCm39)	I511F	probably damaging	Het
Sfxn1	C	A	13: 54,246,457 (GRCm39)	A167D	probably benign	Het
Slc12a6	A	G	2: 112,188,111 (GRCm39)		probably null	Het
Smyd4	C	T	11: 75,281,558 (GRCm39)	L344F	probably damaging	Het
Srsf11	A	G	3: 157,728,972 (GRCm39)	V93A	probably benign	Het
Tle1	A	G	4: 72,063,581 (GRCm39)	I224T	possibly damaging	Het
Tmc6	A	T	11: 117,663,868 (GRCm39)	S479R	possibly damaging	Het
Tmprss4	T	C	9: 45,087,702 (GRCm39)	M296V	probably benign	Het
Togaram1	A	G	12: 65,013,894 (GRCm39)	N382D	possibly damaging	Het
Tpcn1	A	G	5: 120,677,322 (GRCm39)	S662P	probably damaging	Het
Tppp	G	T	13: 74,178,983 (GRCm39)	R141S	probably benign	Het
Ttc21a	A	G	9: 119,790,828 (GRCm39)	D858G	possibly damaging	Het
Tuba3a	A	G	6: 125,258,130 (GRCm39)	S287P	possibly damaging	Het
Unc80	T	G	1: 66,710,821 (GRCm39)	S2697A	probably benign	Het
Vmn1r69	A	G	7: 10,314,026 (GRCm39)	V235A	probably benign	Het
Vmn2r26	T	A	6: 124,038,375 (GRCm39)	I650N	probably damaging	Het
Vmn2r53	G	A	7: 12,315,932 (GRCm39)	T629I	possibly damaging	Het
Vmn2r74	T	C	7: 85,610,555 (GRCm39)	T46A	probably benign	Het
Vmn2r84	A	T	10: 130,229,973 (GRCm39)	C46*	probably null	Het
Vps13b	T	C	15: 35,770,835 (GRCm39)	S2093P	probably benign	Het
Wdfy4	T	C	14: 32,711,893 (GRCm39)	R2375G	probably damaging	Het
Wnk2	T	G	13: 49,210,359 (GRCm39)	E1820A	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
R1352:Evx1	UTSW	6	52,293,995 (GRCm39)	missense	probably damaging	1.00
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
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'- CTGAACCGCCAGAGAAGATG -3'
(R):5'- AAAGAGTTGTTCAGGTGCCCC -3'

Sequencing Primer
(F):5'- CAGAGAAGATGGTGCCCCAC -3'
(R):5'- AACCCCCAGCCATCCTG -3'

Posted On

2015-10-08