Mutagenetix > Incidental Mutation

Incidental Mutation 'R7324:Etnppl'

568732

Institutional Source

Beutler Lab

Gene Symbol

Etnppl

Ensembl Gene

ENSMUSG00000019232

Gene Name

ethanolamine phosphate phospholyase

Synonyms

Agxt2l1, 1300019H02Rik

MMRRC Submission

045418-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R7324 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130411097-130429399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130423224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 308 (N308D)

Ref Sequence

ENSEMBL: ENSMUSP00000072121 (fasta)

Gene Model

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

AlphaFold

Q8BWU8

Predicted Effect

probably damaging
Transcript: ENSMUST00000072271
AA Change: N308D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072121
Gene: ENSMUSG00000019232
AA Change: N308D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000163620
AA Change: N302D

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

SMART Domains

Protein: ENSMUSP00000129120
Gene: ENSMUSG00000019232
AA Change: N302D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000166187
AA Change: N308D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131294
Gene: ENSMUSG00000019232
AA Change: N308D

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000128425
Gene: ENSMUSG00000019232
AA Change: N113D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (81/82)

Allele List at MGI

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

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	C	17: 84,983,667 (GRCm39)	D124G	possibly damaging	Het
Ackr3	C	G	1: 90,141,923 (GRCm39)	N127K	probably damaging	Het
AL732309.1	A	C	2: 25,136,151 (GRCm39)	M21R	possibly damaging	Het
Ankrd52	C	A	10: 128,222,032 (GRCm39)	T552K	possibly damaging	Het
Arhgap28	T	C	17: 68,202,879 (GRCm39)		probably null	Het
Arid5b	A	T	10: 67,964,752 (GRCm39)	N306K	probably benign	Het
C1qtnf3	A	C	15: 10,952,707 (GRCm39)	K56N	probably benign	Het
C2	C	T	17: 35,100,664 (GRCm39)	G52D	probably benign	Het
Casz1	C	T	4: 149,031,490 (GRCm39)	T1247M	probably damaging	Het
Cc2d2b	A	G	19: 40,797,552 (GRCm39)	D778G	unknown	Het
Cdh5	A	G	8: 104,869,425 (GRCm39)	D717G	probably damaging	Het
Clca3a2	G	A	3: 144,514,372 (GRCm39)	A445V	probably damaging	Het
Clca3b	T	A	3: 144,547,181 (GRCm39)	M319L	possibly damaging	Het
Csmd1	G	A	8: 16,108,721 (GRCm39)	S1894L	probably damaging	Het
Csnk1g3	A	G	18: 54,052,090 (GRCm39)	T220A	probably damaging	Het
Cyp2d10	T	G	15: 82,287,961 (GRCm39)	T381P	probably damaging	Het
Ddb2	G	A	2: 91,067,229 (GRCm39)		probably benign	Het
Ddx24	C	A	12: 103,382,518 (GRCm39)	L688F	probably damaging	Het
Dennd4c	T	C	4: 86,747,975 (GRCm39)	L1615P	unknown	Het
Dnah8	T	A	17: 31,003,099 (GRCm39)	D3599E	probably benign	Het
Dst	T	C	1: 34,045,305 (GRCm39)	S13P	possibly damaging	Het
Efcab12	T	C	6: 115,800,555 (GRCm39)	D156G	probably benign	Het
Enpp2	A	G	15: 54,741,170 (GRCm39)		probably null	Het
Ephx2	A	G	14: 66,322,803 (GRCm39)	V490A	probably damaging	Het
F5	TCAGAAGACCTCCTCCCCAGACCTGGGCCAGGTGCCCCTTTCTCCAGATGACAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA	TCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA	1: 164,021,150 (GRCm39)		probably benign	Het
Fam162b	A	T	10: 51,466,282 (GRCm39)		probably null	Het
Fancl	A	G	11: 26,353,362 (GRCm39)	E86G	probably damaging	Het
Flii	G	A	11: 60,609,866 (GRCm39)	T615I	probably benign	Het
Fndc7	G	T	3: 108,779,537 (GRCm39)	Q336K	probably benign	Het
Gm26661	T	C	14: 7,791,911 (GRCm38)	C109R	unknown	Het
H2-DMb1	T	C	17: 34,378,436 (GRCm39)		probably null	Het
H2-T10	C	T	17: 36,430,189 (GRCm39)	G251R	probably damaging	Het
Harbi1	T	C	2: 91,551,044 (GRCm39)	I339T	probably benign	Het
Hsp90aa1	A	G	12: 110,661,659 (GRCm39)	M119T	unknown	Het
Ighe	T	A	12: 113,235,954 (GRCm39)	Y124F		Het
Ighv7-1	T	C	12: 113,860,149 (GRCm39)	Y81C	probably damaging	Het
Ilkap	A	T	1: 91,313,115 (GRCm39)		probably null	Het
Inpp5a	A	G	7: 139,105,586 (GRCm39)	D179G	probably damaging	Het
Itgad	A	T	7: 127,788,979 (GRCm39)	D510V	probably damaging	Het
Kcnn2	A	T	18: 45,693,138 (GRCm39)	H238L	probably benign	Het
Kctd17	T	A	15: 78,319,842 (GRCm39)	C189S	probably damaging	Het
Larp4b	C	A	13: 9,208,616 (GRCm39)	A423E	probably benign	Het
Llgl2	A	G	11: 115,741,556 (GRCm39)	E562G	possibly damaging	Het
Macf1	T	C	4: 123,268,218 (GRCm39)	T6734A	probably benign	Het
Maz	G	A	7: 126,623,765 (GRCm39)	T377M	probably damaging	Het
Mmrn1	G	T	6: 60,921,917 (GRCm39)	G125*	probably null	Het
Mvp	A	G	7: 126,592,781 (GRCm39)	S377P	probably benign	Het
Nin	C	T	12: 70,090,508 (GRCm39)	R969Q		Het
Nktr	C	T	9: 121,556,427 (GRCm39)	T35I	probably damaging	Het
Nktr	T	A	9: 121,577,357 (GRCm39)	M475K	possibly damaging	Het
Nod2	T	A	8: 89,379,694 (GRCm39)	V65D	probably damaging	Het
Opa1	A	T	16: 29,405,799 (GRCm39)	E121D	probably benign	Het
Or10w3	C	T	19: 13,704,270 (GRCm39)	A215V	probably benign	Het
Or1r1	A	G	11: 73,874,669 (GRCm39)	V255A	probably benign	Het
Or2n1c	T	C	17: 38,519,607 (GRCm39)	V157A	probably benign	Het
Or4a76	A	T	2: 89,460,447 (GRCm39)	I265N	possibly damaging	Het
Or5ac21	T	C	16: 59,123,611 (GRCm39)	F32L	probably benign	Het
Or5b123	A	G	19: 13,596,942 (GRCm39)	I96V	probably benign	Het
Or6c88	T	A	10: 129,406,718 (GRCm39)	S65T	probably damaging	Het
Or7e174	A	T	9: 20,012,726 (GRCm39)	I224F	possibly damaging	Het
Osbpl2	A	G	2: 179,791,994 (GRCm39)	T233A	probably benign	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Plekhh3	T	A	11: 101,061,600 (GRCm39)	D38V	possibly damaging	Het
Prtg	C	T	9: 72,798,122 (GRCm39)	A696V	probably damaging	Het
Ptpn14	T	G	1: 189,595,621 (GRCm39)	V748G	possibly damaging	Het
Reg2	A	T	6: 78,383,137 (GRCm39)	D28V	probably benign	Het
Rhpn1	A	T	15: 75,576,246 (GRCm39)	I2F	possibly damaging	Het
Rundc3a	A	G	11: 102,290,799 (GRCm39)	E294G	possibly damaging	Het
Scara3	T	A	14: 66,168,865 (GRCm39)	I251L	probably benign	Het
Slc23a2	G	A	2: 131,931,043 (GRCm39)	T152I	probably damaging	Het
Slc39a2	T	G	14: 52,131,650 (GRCm39)	S74A	possibly damaging	Het
Tmprss15	T	C	16: 78,758,907 (GRCm39)	Y937C	probably damaging	Het
Tpp2	T	C	1: 44,017,938 (GRCm39)	L779S	probably damaging	Het
Tssk2	T	C	16: 17,717,227 (GRCm39)	V210A	possibly damaging	Het
Ttn	T	A	2: 76,725,937 (GRCm39)	T6100S	unknown	Het
Tufm	G	A	7: 126,088,759 (GRCm39)	E317K	possibly damaging	Het
Vinac1	T	C	2: 128,879,772 (GRCm39)	D718G	unknown	Het
Wdfy4	A	G	14: 32,769,271 (GRCm39)	S2219P		Het
Wtap	T	C	17: 13,199,833 (GRCm39)	N50S	possibly damaging	Het

Other mutations in Etnppl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01784:Etnppl	APN	3	130,425,427 (GRCm39)	missense	possibly damaging	0.81
IGL02087:Etnppl	APN	3	130,420,194 (GRCm39)	missense	probably benign
IGL02524:Etnppl	APN	3	130,424,320 (GRCm39)	unclassified	probably benign
IGL03101:Etnppl	APN	3	130,415,967 (GRCm39)	missense	probably damaging	1.00
IGL03120:Etnppl	APN	3	130,414,341 (GRCm39)	missense	probably damaging	1.00
1mM(1):Etnppl	UTSW	3	130,422,479 (GRCm39)	splice site	probably benign
PIT4810001:Etnppl	UTSW	3	130,414,363 (GRCm39)	missense	probably benign	0.35
R0279:Etnppl	UTSW	3	130,423,062 (GRCm39)	missense	probably damaging	1.00
R1075:Etnppl	UTSW	3	130,423,212 (GRCm39)	missense	probably benign	0.01
R1117:Etnppl	UTSW	3	130,428,212 (GRCm39)	missense	probably benign	0.00
R1502:Etnppl	UTSW	3	130,422,438 (GRCm39)	missense	probably benign	0.01
R1581:Etnppl	UTSW	3	130,422,393 (GRCm39)	missense	possibly damaging	0.80
R1730:Etnppl	UTSW	3	130,414,398 (GRCm39)	missense	probably damaging	1.00
R1783:Etnppl	UTSW	3	130,414,398 (GRCm39)	missense	probably damaging	1.00
R1816:Etnppl	UTSW	3	130,428,211 (GRCm39)	missense	probably benign
R1855:Etnppl	UTSW	3	130,414,371 (GRCm39)	missense	probably benign	0.40
R1885:Etnppl	UTSW	3	130,423,111 (GRCm39)	missense	probably benign	0.04
R2330:Etnppl	UTSW	3	130,424,224 (GRCm39)	missense	probably damaging	1.00
R4067:Etnppl	UTSW	3	130,425,442 (GRCm39)	missense	probably damaging	1.00
R5862:Etnppl	UTSW	3	130,425,473 (GRCm39)	missense	possibly damaging	0.89
R6183:Etnppl	UTSW	3	130,413,966 (GRCm39)	missense	probably damaging	1.00
R6374:Etnppl	UTSW	3	130,414,342 (GRCm39)	missense	probably damaging	1.00
R7169:Etnppl	UTSW	3	130,414,345 (GRCm39)	missense	probably damaging	1.00
R7654:Etnppl	UTSW	3	130,423,160 (GRCm39)	missense	probably benign	0.00
R7990:Etnppl	UTSW	3	130,424,308 (GRCm39)	missense	possibly damaging	0.73
R8348:Etnppl	UTSW	3	130,423,141 (GRCm39)	missense	probably benign	0.22
R8506:Etnppl	UTSW	3	130,423,122 (GRCm39)	missense	possibly damaging	0.57
R8771:Etnppl	UTSW	3	130,414,024 (GRCm39)	missense	probably damaging	1.00
R8823:Etnppl	UTSW	3	130,420,195 (GRCm39)	missense	probably damaging	1.00
R9730:Etnppl	UTSW	3	130,415,958 (GRCm39)	missense	probably damaging	0.99
R9748:Etnppl	UTSW	3	130,414,002 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAAGTAGGCTTTGGCAGAGTTG -3'
(R):5'- AACCACTGAAGTTTAGCAGAGTG -3'

Sequencing Primer
(F):5'- GGGAGGTACTTCTGGAGCTTCC -3'
(R):5'- GAGTGACTGTCTGTTATTAGAAAACC -3'

Posted On

2019-09-13