Mutagenetix > Incidental Mutations

Incidental Mutation 'R1117:Etnppl'

97394

Institutional Source

Beutler Lab

Gene Symbol

Etnppl

Ensembl Gene

ENSMUSG00000019232

Gene Name

ethanolamine phosphate phospholyase

Synonyms

1300019H02Rik, Agxt2l1

MMRRC Submission

039190-MU

Accession Numbers

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

Is this an essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R1117 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130617448-130637521 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130634563 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 462 (I462M)

Ref Sequence

ENSEMBL: ENSMUSP00000131294 (fasta)

Gene Model

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

AlphaFold

Q8BWU8

Predicted Effect

probably benign
Transcript: ENSMUST00000072271
AA Change: I462M

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000072121
Gene: ENSMUSG00000019232
AA Change: I462M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000163620
AA Change: I456M

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000129120
Gene: ENSMUSG00000019232
AA Change: I456M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000166187
AA Change: I462M

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000131294
Gene: ENSMUSG00000019232
AA Change: I462M

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: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.1%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	G	A	10: 83,508,623	T353I	probably benign	Het
Arpc1b	T	C	5: 145,125,754	V226A	possibly damaging	Het
Casz1	C	A	4: 148,934,595	T451K	probably damaging	Het
Ccr4	C	T	9: 114,492,017	V327M	probably benign	Het
Cntrl	A	G	2: 35,127,973	E465G	probably damaging	Het
Cpa1	A	G	6: 30,645,261	D412G	probably benign	Het
Crispld1	T	A	1: 17,749,622	N281K	probably benign	Het
Cul3	T	C	1: 80,280,924	Q465R	probably damaging	Het
Cyp2c68	G	A	19: 39,712,459	T305M	probably damaging	Het
Elp4	T	C	2: 105,842,311	D143G	probably benign	Het
Fmo4	A	G	1: 162,803,663	V245A	probably benign	Het
Gm4076	A	G	13: 85,127,318		noncoding transcript	Het
Gm9573	T	C	17: 35,620,028		probably benign	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Kcnj15	G	A	16: 95,295,625	M8I	probably benign	Het
Klk1b22	A	T	7: 44,116,859	M255L	probably benign	Het
Mmrn1	T	A	6: 60,976,325	I530K	possibly damaging	Het
Nid2	A	C	14: 19,763,664		probably null	Het
Olfr311	A	G	11: 58,841,815	K234E	possibly damaging	Het
Olfr63	C	T	17: 33,268,966	R81*	probably null	Het
Olfr981	T	C	9: 40,022,762	F123S	probably damaging	Het
Peak1	G	A	9: 56,258,418	T742M	probably benign	Het
Sel1l3	T	A	5: 53,172,607	T469S	probably benign	Het
Sez6	A	G	11: 77,974,514	Y659C	probably damaging	Het
Slc19a2	A	T	1: 164,263,456	I278F	possibly damaging	Het
Slc36a3	T	C	11: 55,146,180	I100V	possibly damaging	Het
Tcerg1	A	G	18: 42,574,652	D1079G	probably damaging	Het
Trim43c	T	C	9: 88,844,977	S286P	probably benign	Het
Umod	T	C	7: 119,477,306	N79S	possibly damaging	Het
Wdr43	A	G	17: 71,616,387	T43A	probably benign	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
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
R5862:Etnppl	UTSW	3	130631824	missense	possibly damaging	0.89
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
R8771:Etnppl	UTSW	3	130620375	missense	probably damaging	1.00
R8823:Etnppl	UTSW	3	130626546	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGATGTTGGTCGAGTCATTACACGG -3'
(R):5'- TGAGAAGCAAGGCACCCAGCTTAG -3'

Sequencing Primer
(F):5'- CACGGGTATAAAAGTTTGTCCTGG -3'
(R):5'- AAGGCACCCAGCTTAGTCTTG -3'

Posted On

2014-01-05