Mutagenetix > Incidental Mutation

Incidental Mutation 'R0943:Emx1'

81962

Institutional Source

Beutler Lab

Gene Symbol

Emx1

Ensembl Gene

ENSMUSG00000033726

Gene Name

empty spiracles homeobox 1

Synonyms

MMRRC Submission

039082-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0943 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85164913-85181445 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 85180901 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 206 (W206*)

Ref Sequence

ENSEMBL: ENSMUSP00000046026 (fasta)

Gene Model

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

AlphaFold

Q04742

Predicted Effect

probably null
Transcript: ENSMUST00000045942
AA Change: W206*

SMART Domains

Protein: ENSMUSP00000046026
Gene: ENSMUSG00000033726
AA Change: W206*

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

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.5%

Validation Efficiency

97% (36/37)

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
Agtpbp1	T	C	13: 59,648,416 (GRCm39)	N468S	probably benign	Het
Card6	A	G	15: 5,129,768 (GRCm39)	S543P	probably damaging	Het
Celsr1	T	G	15: 85,787,489 (GRCm39)	T2750P	probably damaging	Het
Csmd3	A	G	15: 47,539,135 (GRCm39)	M2341T	probably damaging	Het
Dym	A	G	18: 75,419,840 (GRCm39)	*670W	probably null	Het
Ehbp1	T	C	11: 22,045,883 (GRCm39)	D597G	probably benign	Het
Esr1	A	G	10: 4,696,781 (GRCm39)	K210R	probably damaging	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,084,988 (GRCm39)		probably benign	Het
Fads2b	C	T	2: 85,319,109 (GRCm39)	D398N	probably damaging	Het
Fam72a	T	C	1: 131,456,517 (GRCm39)	S27P	possibly damaging	Het
Fanca	A	T	8: 124,000,925 (GRCm39)	C1152S	probably damaging	Het
Fras1	G	A	5: 96,874,402 (GRCm39)	V2276I	probably benign	Het
Hoxb13	A	G	11: 96,086,799 (GRCm39)	E202G	probably benign	Het
Lcmt1	T	G	7: 123,000,662 (GRCm39)		probably null	Het
Nars2	C	T	7: 96,605,138 (GRCm39)		probably benign	Het
Neil3	ATATTTATTTATTTATTTATTTATTTATTTATT	ATATTTATTTATTTATTTATTTATTTATTTATTTATT	8: 54,062,404 (GRCm39)		probably benign	Het
Nup153	T	C	13: 46,850,248 (GRCm39)		probably benign	Het
Or4c10b	T	C	2: 89,711,305 (GRCm39)	V45A	probably benign	Het
Or5b112	C	A	19: 13,319,157 (GRCm39)	H12N	probably benign	Het
Prkar2a	T	C	9: 108,610,475 (GRCm39)		probably benign	Het
Ptprc	T	C	1: 138,038,902 (GRCm39)	T209A	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf26rt	T	C	6: 76,473,398 (GRCm39)	H406R	probably benign	Het
Rprd2	C	T	3: 95,691,559 (GRCm39)	V239I	possibly damaging	Het
Sgo2b	A	G	8: 64,384,369 (GRCm39)	F209S	possibly damaging	Het
Shfl	A	T	9: 20,784,258 (GRCm39)	H160L	possibly damaging	Het
Spry2	T	C	14: 106,131,021 (GRCm39)	Y55C	probably damaging	Het
Tbc1d32	A	T	10: 56,037,243 (GRCm39)	V667E	probably benign	Het
Tbrg4	A	G	11: 6,569,008 (GRCm39)	F388L	probably damaging	Het
Tmt1a	T	C	15: 100,202,839 (GRCm39)	Y20H	probably benign	Het
Tshz1	T	C	18: 84,033,356 (GRCm39)	T351A	probably benign	Het
Usp48	A	G	4: 137,371,781 (GRCm39)	N969S	possibly damaging	Het
Vmn2r108	A	T	17: 20,691,397 (GRCm39)	C375*	probably null	Het
Vps45	T	A	3: 95,964,336 (GRCm39)	I62F	probably benign	Het
Xab2	A	G	8: 3,663,667 (GRCm39)	F388L	probably benign	Het
Zfp735	A	G	11: 73,602,909 (GRCm39)	T618A	probably benign	Het
Zswim2	T	A	2: 83,748,342 (GRCm39)	R279S	possibly damaging	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
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
R5012:Emx1	UTSW	6	85,180,955 (GRCm39)	missense	probably benign	0.14
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'- GGAAAACTGCCCTTATGTCTAGCCC -3'
(R):5'- TCTCTTGTCCCTCTGACAGTGATGG -3'

Sequencing Primer
(F):5'- CCCTTATGTCTAGCCCAGTCC -3'
(R):5'- TGACAGTGATGGCCCCAG -3'

Posted On

2013-11-08