Mutagenetix > Incidental Mutation

Incidental Mutation 'R8506:Etnppl'

655555

Institutional Source

Beutler Lab

Gene Symbol

Etnppl

Ensembl Gene

ENSMUSG00000019232

Gene Name

ethanolamine phosphate phospholyase

Synonyms

Agxt2l1, 1300019H02Rik

MMRRC Submission

067842-MU

Accession Numbers

Essential gene?

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

Stock #

R8506 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130411097-130429399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 130423122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 274 (V274I)

Ref Sequence

ENSEMBL: ENSMUSP00000072121 (fasta)

Gene Model

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

AlphaFold

Q8BWU8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072271
AA Change: V274I

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000072121
Gene: ENSMUSG00000019232
AA Change: V274I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000163620
AA Change: V268I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129120
Gene: ENSMUSG00000019232
AA Change: V268I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166187
AA Change: V274I

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131294
Gene: ENSMUSG00000019232
AA Change: V274I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000170664
AA Change: V79I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128425
Gene: ENSMUSG00000019232
AA Change: V79I

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: 99.1%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	A	T	9: 101,820,171 (GRCm39)	E197V	possibly damaging	Het
Alkbh8	C	T	9: 3,335,616 (GRCm39)		probably benign	Het
Ank1	G	A	8: 23,586,851 (GRCm39)	A498T	probably damaging	Het
Antxr1	T	A	6: 87,165,155 (GRCm39)	E427D	possibly damaging	Het
App	A	C	16: 84,879,704 (GRCm39)	V143G	unknown	Het
Bod1l	C	A	5: 41,976,398 (GRCm39)	E1639*	probably null	Het
C2cd2	T	C	16: 97,676,621 (GRCm39)	D122G		Het
Ccdc88b	G	T	19: 6,824,690 (GRCm39)	P1357T	probably damaging	Het
Ccnyl1	A	G	1: 64,753,821 (GRCm39)	T211A	possibly damaging	Het
Cdc25a	T	C	9: 109,720,820 (GRCm39)	Y434H	probably damaging	Het
Ceacam16	C	A	7: 19,586,195 (GRCm39)	A106S	unknown	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Chpf2	T	C	5: 24,793,295 (GRCm39)	L87P	probably damaging	Het
Col5a2	A	T	1: 45,481,944 (GRCm39)	I60N	unknown	Het
Cux1	T	A	5: 136,337,358 (GRCm39)	E718V	probably damaging	Het
Dchs2	A	T	3: 83,208,481 (GRCm39)	I1845L	probably benign	Het
Disp3	C	T	4: 148,326,027 (GRCm39)	V1244I	possibly damaging	Het
Dnah8	T	C	17: 30,940,108 (GRCm39)	S1685P	probably benign	Het
Evc2	T	C	5: 37,540,486 (GRCm39)	S561P	probably damaging	Het
Fga	A	G	3: 82,940,623 (GRCm39)	E759G	probably damaging	Het
Gdpd5	T	C	7: 99,103,157 (GRCm39)	F372S	probably benign	Het
Gpr155	T	C	2: 73,173,806 (GRCm39)	T868A	probably damaging	Het
Herc1	A	G	9: 66,380,863 (GRCm39)	D3580G	possibly damaging	Het
Hmbs	A	G	9: 44,252,921 (GRCm39)		probably null	Het
Ibsp	A	T	5: 104,457,947 (GRCm39)	E161D	probably damaging	Het
Ighv8-4	A	G	12: 114,987,728 (GRCm39)	V90A	possibly damaging	Het
Itpr2	A	G	6: 146,319,914 (GRCm39)		probably null	Het
Kcnc2	T	A	10: 112,291,537 (GRCm39)	F242I	probably damaging	Het
Kcnj5	A	G	9: 32,233,628 (GRCm39)	I229T	probably damaging	Het
Lamb1	A	T	12: 31,379,360 (GRCm39)	L1791F	probably damaging	Het
Med6	A	T	12: 81,641,734 (GRCm39)	M1K	probably null	Het
Mei4	A	G	9: 81,861,291 (GRCm39)	D294G	probably benign	Het
Nat10	T	C	2: 103,562,582 (GRCm39)	I585V	probably benign	Het
Nid1	T	C	13: 13,650,759 (GRCm39)	V432A	probably damaging	Het
Nlrp4c	G	T	7: 6,103,775 (GRCm39)	G903V	possibly damaging	Het
Nrf1	G	A	6: 30,126,256 (GRCm39)	A416T	probably benign	Het
Nsl1	G	C	1: 190,808,832 (GRCm39)	C173S	unknown	Het
Obsl1	G	A	1: 75,482,300 (GRCm39)	A190V	probably benign	Het
Or13a22	G	A	7: 140,073,336 (GRCm39)	V262I	probably benign	Het
Or51f1d	T	A	7: 102,700,709 (GRCm39)	M68K	probably damaging	Het
Or5b3	A	G	19: 13,388,604 (GRCm39)	T224A	possibly damaging	Het
Or5w8	A	T	2: 87,688,181 (GRCm39)	I221F	probably damaging	Het
Or8k3	A	G	2: 86,058,922 (GRCm39)	L131P	possibly damaging	Het
Or8k38	T	C	2: 86,488,745 (GRCm39)	D19G	probably benign	Het
Osbpl1a	G	A	18: 12,901,643 (GRCm39)	T621I	probably benign	Het
Pabpc4l	G	A	3: 46,400,832 (GRCm39)	R271*	probably null	Het
Paics	A	T	5: 77,112,437 (GRCm39)	D307V	possibly damaging	Het
Pcdhga9	A	G	18: 37,871,737 (GRCm39)	D522G	probably damaging	Het
Pclo	T	A	5: 14,590,759 (GRCm39)	C1020S	unknown	Het
Pfkfb4	T	G	9: 108,834,667 (GRCm39)	D113E	possibly damaging	Het
Plod3	A	G	5: 137,017,830 (GRCm39)	Y202C	probably damaging	Het
Pmp22	T	A	11: 63,049,090 (GRCm39)	M111K	probably damaging	Het
Pole2	A	C	12: 69,255,734 (GRCm39)	S344A	probably benign	Het
Pom121l2	A	G	13: 22,167,789 (GRCm39)	T687A	probably benign	Het
Psmd6	A	G	14: 14,114,181 (GRCm38)	S313P	probably damaging	Het
Rd3	T	G	1: 191,715,228 (GRCm39)	M1R	probably null	Het
Rtn4ip1	G	A	10: 43,804,352 (GRCm39)	V235I	probably benign	Het
Senp5	T	C	16: 31,787,719 (GRCm39)	I635V	probably damaging	Het
Stox2	T	C	8: 47,645,108 (GRCm39)	E784G	possibly damaging	Het
Syce2	A	T	8: 85,613,795 (GRCm39)	D168V	probably benign	Het
Taar6	A	G	10: 23,861,529 (GRCm39)	S6P	probably benign	Het
Tbc1d16	A	C	11: 119,039,784 (GRCm39)	H675Q	probably damaging	Het
Tmem151b	A	T	17: 45,856,327 (GRCm39)	I371N	probably damaging	Het
Trim31	A	T	17: 37,218,150 (GRCm39)		probably null	Het
Usp48	A	G	4: 137,338,029 (GRCm39)	Y268C	probably damaging	Het
Vmn2r11	A	G	5: 109,207,270 (GRCm39)	S17P	probably benign	Het
Vmn2r110	T	A	17: 20,804,627 (GRCm39)	N98Y	probably benign	Het
Vps13b	T	A	15: 35,446,891 (GRCm39)	D515E	probably benign	Het
Yeats2	T	G	16: 19,971,684 (GRCm39)	I42M	probably 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
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
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

Posted On

2020-10-20