Mutagenetix > Incidental Mutations

Incidental Mutation 'R5862:Etnppl'

453958

Institutional Source

Beutler Lab

Gene Symbol

Etnppl

Ensembl Gene

ENSMUSG00000019232

Gene Name

ethanolamine phosphate phospholyase

Synonyms

1300019H02Rik, Agxt2l1

MMRRC Submission

043231-MU

Accession Numbers

Genbank: NM_027907.3, NM_001163587.1; Ensembl: ENSMUST00000072271

Is this an essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R5862 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130617448-130637521 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130631824 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 426 (V426A)

Ref Sequence

ENSEMBL: ENSMUSP00000131294 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072271] [ENSMUST00000163620] [ENSMUST00000166187]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072271
AA Change: V426A

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072121
Gene: ENSMUSG00000019232
AA Change: V426A

Domain	Start	End	E-Value	Type
Pfam:Aminotran_3	32	373	2.6e-81	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163620
AA Change: V420A

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129120
Gene: ENSMUSG00000019232
AA Change: V420A

Domain	Start	End	E-Value	Type
Pfam:Aminotran_3	32	367	1.6e-73	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166187
AA Change: V426A

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131294
Gene: ENSMUSG00000019232
AA Change: V426A

Domain	Start	End	E-Value	Type
Pfam:Aminotran_3	26	433	1.3e-91	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170664

SMART Domains

Protein: ENSMUSP00000128425
Gene: ENSMUSG00000019232

Domain	Start	End	E-Value	Type
Pfam:Aminotran_3	2	120	4.4e-29	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	A	G	1: 179,788,330	Y326H	probably damaging	Het
Alpk2	T	A	18: 65,307,289	K811N	probably damaging	Het
Ap3b1	T	A	13: 94,547,770	M1014K	unknown	Het
Bphl	G	A	13: 34,063,984	V247I	possibly damaging	Het
C6	A	T	15: 4,735,263	D147V	possibly damaging	Het
Clec18a	G	A	8: 111,081,558	H71Y	possibly damaging	Het
Cse1l	A	G	2: 166,915,207	T10A	probably benign	Het
Cyp2b9	G	T	7: 26,187,807	G214C	probably benign	Het
Dctn6	A	T	8: 34,108,417		probably null	Het
Dnaja4	G	T	9: 54,699,341		probably benign	Het
Dpp8	A	T	9: 65,045,722	S227C	probably benign	Het
Ecel1	T	C	1: 87,149,596	N630S	probably benign	Het
Golgb1	A	T	16: 36,926,091		silent	Het
H2afy	T	A	13: 56,074,271	I359L	probably damaging	Het
Hapln3	A	T	7: 79,121,891	H83Q	possibly damaging	Het
Hmgxb4	A	G	8: 75,001,055	K222R	probably damaging	Het
Hsf5	C	A	11: 87,622,991	T294K	probably damaging	Het
Ighv12-2	A	G	12: 114,127,937		noncoding transcript	Het
Lrch3	A	T	16: 32,995,809	H587L	probably damaging	Het
Mboat1	C	T	13: 30,235,697	T339M	probably damaging	Het
Mief1	G	A	15: 80,248,385	R156Q	probably benign	Het
Ms4a6b	T	A	19: 11,521,803	F94I	probably benign	Het
Neb	T	A	2: 52,179,542	R307*	probably null	Het
Neu4	A	G	1: 94,022,930	I147V	probably benign	Het
Olfr1036	T	C	2: 86,075,646	I302T	probably benign	Het
Pcyox1	A	G	6: 86,391,674		probably null	Het
Pik3ap1	T	A	19: 41,332,345	D145V	probably damaging	Het
Pja2	T	C	17: 64,297,826	D454G	probably benign	Het
Plekhg1	C	T	10: 3,937,914	T281M	probably damaging	Het
Ptprq	T	C	10: 107,565,878	I1918V	probably benign	Het
Rasgef1a	A	C	6: 118,080,444	R35S	probably benign	Het
Rnf167	A	G	11: 70,651,092	T308A	probably damaging	Het
Sfmbt2	C	T	2: 10,402,052	T54I	possibly damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Shkbp1	G	T	7: 27,343,404	S536*	probably null	Het
Taf2	C	A	15: 55,048,323	V566L	possibly damaging	Het
Tmed6	G	T	8: 107,064,154	T87K	probably damaging	Het
Tyms	A	T	5: 30,063,410	D97E	probably damaging	Het
Usp20	T	A	2: 31,006,449	L188*	probably null	Het
Zbtb10	T	A	3: 9,265,216	S545T	probably damaging	Het
Zscan29	G	T	2: 121,164,037	T489N	probably damaging	Het

Other mutations in Etnppl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01784:Etnppl	APN	3	130631778	missense	possibly damaging	0.81
IGL02087:Etnppl	APN	3	130626545	missense	probably benign
IGL02524:Etnppl	APN	3	130630671	unclassified	probably benign
IGL03101:Etnppl	APN	3	130622318	missense	probably damaging	1.00
IGL03120:Etnppl	APN	3	130620692	missense	probably damaging	1.00
1mM(1):Etnppl	UTSW	3	130628830	splice site	probably benign
PIT4810001:Etnppl	UTSW	3	130620714	missense	probably benign	0.35
R0279:Etnppl	UTSW	3	130629413	missense	probably damaging	1.00
R1075:Etnppl	UTSW	3	130629563	missense	probably benign	0.01
R1117:Etnppl	UTSW	3	130634563	missense	probably benign	0.00
R1502:Etnppl	UTSW	3	130628789	missense	probably benign	0.01
R1581:Etnppl	UTSW	3	130628744	missense	possibly damaging	0.80
R1730:Etnppl	UTSW	3	130620749	missense	probably damaging	1.00
R1783:Etnppl	UTSW	3	130620749	missense	probably damaging	1.00
R1816:Etnppl	UTSW	3	130634562	missense	probably benign
R1855:Etnppl	UTSW	3	130620722	missense	probably benign	0.40
R1885:Etnppl	UTSW	3	130629462	missense	probably benign	0.04
R2330:Etnppl	UTSW	3	130630575	missense	probably damaging	1.00
R4067:Etnppl	UTSW	3	130631793	missense	probably damaging	1.00
R6183:Etnppl	UTSW	3	130620317	missense	probably damaging	1.00
R6374:Etnppl	UTSW	3	130620693	missense	probably damaging	1.00
R7169:Etnppl	UTSW	3	130620696	missense	probably damaging	1.00
R7324:Etnppl	UTSW	3	130629575	missense	probably damaging	1.00
R7654:Etnppl	UTSW	3	130629511	missense	probably benign	0.00
R7990:Etnppl	UTSW	3	130630659	missense	possibly damaging	0.73
R8348:Etnppl	UTSW	3	130629492	missense	probably benign	0.22
R8506:Etnppl	UTSW	3	130629473	missense	possibly damaging	0.57

Predicted Primers

PCR Primer
(F):5'- AAGTACCCATGGCCCTTCATC -3'
(R):5'- CGAACTAAGAGTCCATGTCGC -3'

Sequencing Primer
(F):5'- ATCCCCCACTGCATGTGC -3'
(R):5'- AGAGTCCATGTCGCTAATTTTTGCAG -3'

Posted On

2017-02-10