Mutagenetix > Incidental Mutation

Incidental Mutation 'R5012:Emx1'

390571

Institutional Source

Beutler Lab

Gene Symbol

Emx1

Ensembl Gene

ENSMUSG00000033726

Gene Name

empty spiracles homeobox 1

Synonyms

MMRRC Submission

042603-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5012 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85164913-85181445 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85180955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 224 (P224L)

Ref Sequence

ENSEMBL: ENSMUSP00000046026 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045942]

AlphaFold

Q04742

Predicted Effect

probably benign
Transcript: ENSMUST00000045942
AA Change: P224L

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000046026
Gene: ENSMUSG00000033726
AA Change: P224L

Domain	Start	End	E-Value	Type
low complexity region	20	33	N/A	INTRINSIC
low complexity region	68	75	N/A	INTRINSIC
HOX	159	221	9.33e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173919

Meta Mutation Damage Score

0.0763

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 90.9%

Validation Efficiency

98% (45/46)

MGI Phenotype

PHENOTYPE: Mice with this mutation are viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	A	19: 3,767,217 (GRCm39)	T268K	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Acsl1	A	G	8: 46,974,468 (GRCm39)	S314G	probably benign	Het
Aftph	G	A	11: 20,648,264 (GRCm39)		probably benign	Het
Ankrd34c	T	G	9: 89,611,709 (GRCm39)	I211L	probably benign	Het
Anks1b	A	G	10: 90,194,999 (GRCm39)	T560A	probably benign	Het
Carmil1	G	T	13: 24,208,403 (GRCm39)	S1247R	possibly damaging	Het
Elf1	T	A	14: 79,808,174 (GRCm39)	Y172N	probably damaging	Het
Fastkd2	A	T	1: 63,789,055 (GRCm39)		probably benign	Het
Fbxw27	C	A	9: 109,602,271 (GRCm39)	C234F	probably benign	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Igkv6-23	C	A	6: 70,237,529 (GRCm39)	A71S	probably damaging	Het
Igsf10	A	G	3: 59,226,143 (GRCm39)	L2510P	probably damaging	Het
Itgal	T	C	7: 126,898,802 (GRCm39)		probably null	Het
Kmt2c	C	A	5: 25,504,710 (GRCm39)	G122*	probably null	Het
Lamtor2	C	T	3: 88,460,163 (GRCm39)	R3H	possibly damaging	Het
Magi2	A	T	5: 20,670,618 (GRCm39)	T321S	probably damaging	Het
Mau2	A	G	8: 70,484,107 (GRCm39)		probably null	Het
Mcm7	A	T	5: 138,167,609 (GRCm39)		probably null	Het
Mitd1	A	T	1: 37,924,374 (GRCm39)	C59S	probably benign	Het
Muc6	A	G	7: 141,216,570 (GRCm39)	L2636P	possibly damaging	Het
Paip1	A	G	13: 119,584,338 (GRCm39)	M233V	probably benign	Het
Pcdhb11	C	A	18: 37,556,029 (GRCm39)	T453N	possibly damaging	Het
Plcb1	A	G	2: 135,175,320 (GRCm39)	N545S	probably null	Het
Prl8a9	A	T	13: 27,746,594 (GRCm39)		probably null	Het
Psmc2	A	G	5: 22,007,563 (GRCm39)	T308A	probably benign	Het
Rassf2	C	A	2: 131,851,610 (GRCm39)	R44L	probably damaging	Het
Scn11a	A	T	9: 119,609,944 (GRCm39)	M968K	probably benign	Het
Septin4	T	A	11: 87,475,230 (GRCm39)	S146T	possibly damaging	Het
Slc41a2	A	G	10: 83,137,127 (GRCm39)	I260T	probably benign	Het
Steap2	G	C	5: 5,727,784 (GRCm39)	L184V	possibly damaging	Het
Ttll5	G	A	12: 85,973,618 (GRCm39)	E776K	possibly damaging	Het
Vipr1	A	T	9: 121,487,111 (GRCm39)		probably null	Het
Yars2	T	C	16: 16,121,448 (GRCm39)	S201P	probably damaging	Het
Zfp386	T	A	12: 116,022,864 (GRCm39)	I194K	probably benign	Het
Zfp988	A	G	4: 147,416,060 (GRCm39)	I165V	probably benign	Het

Other mutations in Emx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02891:Emx1	APN	6	85,181,067 (GRCm39)	utr 3 prime	probably benign
R0943:Emx1	UTSW	6	85,180,901 (GRCm39)	nonsense	probably null
R1173:Emx1	UTSW	6	85,165,353 (GRCm39)	splice site	probably benign
R1959:Emx1	UTSW	6	85,180,916 (GRCm39)	missense	probably damaging	1.00
R2483:Emx1	UTSW	6	85,165,237 (GRCm39)	missense	probably benign
R2511:Emx1	UTSW	6	85,181,033 (GRCm39)	missense	probably benign	0.03
R6708:Emx1	UTSW	6	85,171,122 (GRCm39)	missense	probably damaging	0.99
R7170:Emx1	UTSW	6	85,164,983 (GRCm39)	missense	probably benign	0.32
R8315:Emx1	UTSW	6	85,171,088 (GRCm39)	missense	possibly damaging	0.90
R9458:Emx1	UTSW	6	85,181,042 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATTTGAAGGGTGGCAGATGC -3'
(R):5'- AGAACTACAGCAGGACCTGG -3'

Sequencing Primer
(F):5'- TGCCTGGAAGAGAGAGCCC -3'
(R):5'- TCCCTCTGACAGTGATGGC -3'

Posted On

2016-06-06