Mutagenetix > Incidental Mutation

Incidental Mutation 'R0279:Etnppl'

24530

Institutional Source

Beutler Lab

Gene Symbol

Etnppl

Ensembl Gene

ENSMUSG00000019232

Gene Name

ethanolamine phosphate phospholyase

Synonyms

Agxt2l1, 1300019H02Rik

MMRRC Submission

038501-MU

Accession Numbers

Essential gene?

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

Stock #

R0279 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130411097-130429399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130423062 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 248 (R248G)

Ref Sequence

ENSEMBL: ENSMUSP00000129120 (fasta)

Gene Model

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

AlphaFold

Q8BWU8

Predicted Effect

probably damaging
Transcript: ENSMUST00000072271
AA Change: R254G

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

SMART Domains

Protein: ENSMUSP00000072121
Gene: ENSMUSG00000019232
AA Change: R254G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000163620
AA Change: R248G

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

SMART Domains

Protein: ENSMUSP00000129120
Gene: ENSMUSG00000019232
AA Change: R248G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000166187
AA Change: R254G

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

SMART Domains

Protein: ENSMUSP00000131294
Gene: ENSMUSG00000019232
AA Change: R254G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000170664
AA Change: R59G

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

SMART Domains

Protein: ENSMUSP00000128425
Gene: ENSMUSG00000019232
AA Change: R59G

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

Meta Mutation Damage Score

0.9469

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 95.1%
20x: 89.6%

Validation Efficiency

99% (82/83)

Allele List at MGI

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

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610528J11Rik	A	T	4: 118,386,490 (GRCm39)	M1L	probably benign	Het
5730596B20Rik	T	A	6: 52,156,182 (GRCm39)		probably benign	Het
Acrbp	T	C	6: 125,030,917 (GRCm39)		probably null	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Acss3	A	G	10: 106,920,732 (GRCm39)	I126T	possibly damaging	Het
Aff3	T	C	1: 38,574,650 (GRCm39)	E110G	probably damaging	Het
Aldh1a3	T	C	7: 66,059,000 (GRCm39)	I113V	probably benign	Het
Aplp2	T	C	9: 31,069,086 (GRCm39)	E525G	probably damaging	Het
Atp2b4	A	G	1: 133,657,440 (GRCm39)		probably benign	Het
Atp8a1	C	T	5: 67,970,435 (GRCm39)		probably null	Het
Bhmt	A	G	13: 93,761,972 (GRCm39)	C104R	probably damaging	Het
Cct5	T	G	15: 31,591,177 (GRCm39)	E508A	probably damaging	Het
Celsr1	T	A	15: 85,787,065 (GRCm39)	E2761D	probably benign	Het
Clstn1	T	C	4: 149,728,131 (GRCm39)	S600P	probably damaging	Het
Cnppd1	A	G	1: 75,113,573 (GRCm39)	S232P	probably damaging	Het
Crybb3	T	C	5: 113,227,619 (GRCm39)		probably null	Het
Csmd1	A	G	8: 16,273,249 (GRCm39)	I861T	probably damaging	Het
Cyp2d10	A	C	15: 82,289,540 (GRCm39)	S191A	possibly damaging	Het
Ddx10	T	C	9: 53,146,604 (GRCm39)	D206G	probably damaging	Het
Dnah1	G	T	14: 31,024,332 (GRCm39)	H916N	possibly damaging	Het
Dnah9	A	G	11: 65,802,615 (GRCm39)		probably null	Het
Epb42	G	A	2: 120,859,525 (GRCm39)		probably benign	Het
Eya3	T	C	4: 132,446,558 (GRCm39)	F369L	probably damaging	Het
Fam170b	T	C	14: 32,556,025 (GRCm39)		probably benign	Het
Fli1	A	T	9: 32,372,723 (GRCm39)	V105D	probably damaging	Het
Fmo1	T	C	1: 162,657,841 (GRCm39)	I433M	possibly damaging	Het
Fndc3b	C	A	3: 27,511,155 (GRCm39)	C785F	probably benign	Het
Foxe3	T	C	4: 114,782,765 (GRCm39)	D149G	probably damaging	Het
Gk5	T	C	9: 96,056,857 (GRCm39)		probably benign	Het
Gm14226	A	G	2: 154,867,372 (GRCm39)	D443G	possibly damaging	Het
Gm9796	C	T	11: 95,588,821 (GRCm39)		noncoding transcript	Het
Golga4	A	T	9: 118,398,061 (GRCm39)	R52S	probably benign	Het
Hey2	C	A	10: 30,710,006 (GRCm39)	C249F	probably damaging	Het
Ipo9	A	T	1: 135,348,101 (GRCm39)		probably benign	Het
Ireb2	C	A	9: 54,793,877 (GRCm39)	T269K	probably benign	Het
Kansl3	A	G	1: 36,391,050 (GRCm39)	V274A	probably damaging	Het
Kcnk2	C	T	1: 188,942,169 (GRCm39)	A352T	possibly damaging	Het
Lamc2	T	C	1: 153,006,442 (GRCm39)	E903G	probably benign	Het
Lepr	A	G	4: 101,607,541 (GRCm39)	K253R	probably benign	Het
Lmntd2	T	C	7: 140,793,536 (GRCm39)		probably benign	Het
Lrrc39	A	T	3: 116,371,952 (GRCm39)	T240S	probably benign	Het
Lrrc43	A	G	5: 123,635,085 (GRCm39)		probably null	Het
Maf	T	C	8: 116,432,495 (GRCm39)	M370V	possibly damaging	Het
Mib2	G	A	4: 155,745,673 (GRCm39)	S46L	possibly damaging	Het
Mms22l	C	T	4: 24,497,867 (GRCm39)	T63I	probably damaging	Het
Morc2a	T	A	11: 3,633,989 (GRCm39)	S700R	probably benign	Het
Mpz	A	G	1: 170,987,498 (GRCm39)		probably benign	Het
Ncam2	T	C	16: 81,420,225 (GRCm39)		probably benign	Het
Niban1	T	C	1: 151,584,957 (GRCm39)		probably null	Het
Nudt14	C	T	12: 112,902,037 (GRCm39)	A123T	probably damaging	Het
Odad3	A	G	9: 21,901,543 (GRCm39)		probably benign	Het
Or10h1	C	T	17: 33,418,298 (GRCm39)	T92I	probably benign	Het
Or2a7	G	A	6: 43,151,692 (GRCm39)	M257I	probably benign	Het
Or9g20	A	T	2: 85,629,879 (GRCm39)	I245N	possibly damaging	Het
Otoa	T	C	7: 120,710,302 (GRCm39)		probably benign	Het
Pik3cg	G	A	12: 32,254,790 (GRCm39)	T399I	probably damaging	Het
Pkn3	C	T	2: 29,973,309 (GRCm39)	A377V	probably benign	Het
Ppan	A	G	9: 20,802,825 (GRCm39)	N327S	probably benign	Het
Prkca	T	C	11: 107,944,937 (GRCm39)		probably benign	Het
Prrc2c	A	T	1: 162,543,033 (GRCm39)	V320E	probably damaging	Het
Ptprq	A	G	10: 107,444,278 (GRCm39)	V1442A	probably damaging	Het
Rapgef1	C	T	2: 29,616,239 (GRCm39)	R834C	probably damaging	Het
Rbms1	G	T	2: 60,672,754 (GRCm39)	N44K	probably damaging	Het
Rfwd3	A	C	8: 112,009,365 (GRCm39)	F404V	probably benign	Het
Rimbp3	G	T	16: 17,027,317 (GRCm39)	R247L	probably benign	Het
Serpinb1b	T	C	13: 33,277,696 (GRCm39)	S310P	possibly damaging	Het
Smtn	C	A	11: 3,480,235 (GRCm39)	V329L	probably damaging	Het
Snapc2	T	C	8: 4,304,979 (GRCm39)		probably benign	Het
Spam1	A	T	6: 24,800,418 (GRCm39)	M386L	probably benign	Het
Syne2	A	G	12: 76,142,387 (GRCm39)	E6208G	probably damaging	Het
Teddm1a	T	C	1: 153,768,369 (GRCm39)	Y278H	probably damaging	Het
Tnfaip6	A	T	2: 51,945,928 (GRCm39)	N258I	possibly damaging	Het
Trpm4	C	T	7: 44,971,472 (GRCm39)	R188Q	probably damaging	Het
Ttbk2	A	T	2: 120,579,441 (GRCm39)	H491Q	probably benign	Het
Urgcp	C	T	11: 5,666,989 (GRCm39)	E450K	probably benign	Het
Vmn1r228	T	C	17: 20,996,637 (GRCm39)	N294D	probably benign	Het
Wdfy3	A	T	5: 102,015,958 (GRCm39)	C2606S	probably damaging	Het
Wdr33	T	A	18: 32,021,377 (GRCm39)	H642Q	unknown	Het
Zbtb46	A	G	2: 181,053,567 (GRCm39)	S382P	possibly damaging	Het
Zfp217	A	G	2: 169,961,700 (GRCm39)	I209T	probably benign	Het
Zranb3	T	A	1: 127,891,510 (GRCm39)	N822I	probably benign	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
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
R7324:Etnppl	UTSW	3	130,423,224 (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'- AAGCATCCTGTCTCATTGGCTCATC -3'
(R):5'- TATTCCATGCCCGAGCTGCTGAAG -3'

Sequencing Primer
(F):5'- CCTTGCCAATGAGTAAACCTGTG -3'
(R):5'- GCTGAAGGCTTCTGCAATTTC -3'

Posted On

2013-04-16