Mutagenetix > Incidental Mutation

Incidental Mutation 'R9486:Etnk1'

716581

Institutional Source

Beutler Lab

Gene Symbol

Etnk1

Ensembl Gene

ENSMUSG00000030275

Gene Name

ethanolamine kinase 1

Synonyms

1110061E11Rik, D6Ertd3e, EKI1, 4930555L11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9486 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

143112592-143154272 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 143130310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 143 (R143H)

Ref Sequence

ENSEMBL: ENSMUSP00000145041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032413] [ENSMUST00000204947] [ENSMUST00000205256]

AlphaFold

Q9D4V0

Predicted Effect

probably benign
Transcript: ENSMUST00000032413
AA Change: R143H

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000032413
Gene: ENSMUSG00000030275
AA Change: R143H

Domain	Start	End	E-Value	Type
Pfam:APH	50	296	1.8e-16	PFAM
Pfam:Choline_kinase	71	276	2.8e-64	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000204947
AA Change: R143H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000145041
Gene: ENSMUSG00000030275
AA Change: R143H

Domain	Start	End	E-Value	Type
Pfam:APH	50	296	2.3e-14	PFAM
Pfam:Choline_kinase	71	276	2.7e-61	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000205256
AA Change: R143H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144903
Gene: ENSMUSG00000030275
AA Change: R143H

Domain	Start	End	E-Value	Type
Pfam:APH	50	296	1.7e-14	PFAM
Pfam:Choline_kinase	71	276	2.1e-61	PFAM
Pfam:EcKinase	184	260	3e-4	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an ethanolamine kinase, which functions in the first committed step of the phosphatidylethanolamine synthesis pathway. This cytosolic enzyme is specific for ethanolamine and exhibits negligible kinase activity on choline. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,546,942 (GRCm39)	F396L	probably damaging	Het
Abca13	T	C	11: 9,240,621 (GRCm39)	I828T	possibly damaging	Het
Ace3	A	T	11: 105,896,219 (GRCm39)	T722S	probably benign	Het
Acot2	A	G	12: 84,039,426 (GRCm39)	T312A	probably benign	Het
Adra2a	A	G	19: 54,035,963 (GRCm39)	I440V	probably damaging	Het
Arhgap22	T	A	14: 33,073,303 (GRCm39)	M4K	probably benign	Het
Atp8b3	C	T	10: 80,366,821 (GRCm39)	C259Y	probably damaging	Het
Bcl2	T	A	1: 106,471,109 (GRCm39)	Y199F	probably benign	Het
Brca1	A	T	11: 101,414,520 (GRCm39)	C1205S	probably benign	Het
Col7a1	T	C	9: 108,811,396 (GRCm39)	V2743A	unknown	Het
Crybg1	A	G	10: 43,880,145 (GRCm39)		probably benign	Het
Cyp2c40	T	A	19: 39,755,808 (GRCm39)	H502L	probably benign	Het
Cyp2c40	A	T	19: 39,796,050 (GRCm39)	Y109*	probably null	Het
Cyp4a29	T	C	4: 115,106,916 (GRCm39)	M191T	probably damaging	Het
Dcaf1	A	G	9: 106,735,916 (GRCm39)	R955G	possibly damaging	Het
Dcaf4	G	T	12: 83,582,726 (GRCm39)	A274S	probably damaging	Het
Dlx1	A	G	2: 71,362,828 (GRCm39)	H245R	probably damaging	Het
Dnah14	A	G	1: 181,508,494 (GRCm39)	N1891D	possibly damaging	Het
Dock10	A	T	1: 80,479,452 (GRCm39)	V2167D	unknown	Het
Epyc	A	G	10: 97,511,697 (GRCm39)	Q230R	probably benign	Het
Fhip2b	T	C	14: 70,826,479 (GRCm39)	D203G	probably benign	Het
Fmo2	T	C	1: 162,708,292 (GRCm39)	E281G	probably damaging	Het
Gm2042	T	A	12: 87,925,963 (GRCm39)	Y304N	possibly damaging	Het
Hecw2	T	C	1: 53,852,466 (GRCm39)	D1551G	probably damaging	Het
Hgd	A	T	16: 37,413,811 (GRCm39)	D91V	probably benign	Het
Hspa12a	A	G	19: 58,797,891 (GRCm39)	F276L	probably benign	Het
Ifitm10	C	T	7: 141,909,812 (GRCm39)	V95M	probably damaging	Het
Ints3	G	A	3: 90,313,579 (GRCm39)	R350*	probably null	Het
Kdm4c	T	A	4: 74,252,966 (GRCm39)	I511K	probably benign	Het
Kif27	A	G	13: 58,492,348 (GRCm39)	S264P	probably damaging	Het
L1td1	A	G	4: 98,624,899 (GRCm39)	T365A	probably benign	Het
Ltbp2	T	A	12: 84,878,648 (GRCm39)	T304S	possibly damaging	Het
Mamdc4	T	A	2: 25,455,164 (GRCm39)	Y962F	probably benign	Het
Map3k4	C	T	17: 12,489,860 (GRCm39)	A524T	probably damaging	Het
Mfsd8	C	T	3: 40,789,627 (GRCm39)	R140H	probably damaging	Het
Mmp3	A	G	9: 7,451,256 (GRCm39)	I331V	possibly damaging	Het
Mpdz	T	A	4: 81,254,043 (GRCm39)	I1030F	probably damaging	Het
Mtx1	A	T	3: 89,120,163 (GRCm39)	C62S		Het
Muc20	A	T	16: 32,615,248 (GRCm39)	V43E	possibly damaging	Het
Naa25	A	G	5: 121,577,958 (GRCm39)	E955G	probably damaging	Het
Nelfcd	A	G	2: 174,268,635 (GRCm39)	Y562C	probably damaging	Het
Nsd2	T	A	5: 34,018,493 (GRCm39)	M509K	probably benign	Het
Obscn	T	C	11: 58,918,272 (GRCm39)	T207A		Het
Or1ad1	T	A	11: 50,875,691 (GRCm39)	H54Q	possibly damaging	Het
Or4a39	C	T	2: 89,236,959 (GRCm39)	V155M	possibly damaging	Het
Or4k5	T	A	14: 50,385,672 (GRCm39)	I220L	probably benign	Het
Osbpl11	A	T	16: 33,006,283 (GRCm39)	N37I	possibly damaging	Het
Pcdh9	A	G	14: 93,797,956 (GRCm39)	S1032P	possibly damaging	Het
Pde6b	T	A	5: 108,551,241 (GRCm39)	I175N	probably damaging	Het
Pfkl	T	A	10: 77,824,184 (GRCm39)	M735L	probably benign	Het
Pkp4	T	C	2: 59,138,722 (GRCm39)	V324A	probably benign	Het
Ptprb	T	A	10: 116,155,494 (GRCm39)	C462*	probably null	Het
Rasal3	T	C	17: 32,617,910 (GRCm39)	N221S	probably benign	Het
Reep1	A	T	6: 71,684,969 (GRCm39)	I6F	probably benign	Het
Rhobtb1	T	A	10: 69,106,621 (GRCm39)	F457L	probably damaging	Het
Ryr1	T	C	7: 28,777,965 (GRCm39)	N2184S	probably benign	Het
Scn11a	T	G	9: 119,624,774 (GRCm39)	H516P	possibly damaging	Het
Sipa1l1	T	C	12: 82,404,139 (GRCm39)		probably null	Het
Slc17a7	A	G	7: 44,821,606 (GRCm39)	N381S	possibly damaging	Het
Slc38a3	C	T	9: 107,536,322 (GRCm39)	V25M	probably benign	Het
Spag1	T	G	15: 36,181,954 (GRCm39)	D37E	probably damaging	Het
Spib	G	T	7: 44,178,815 (GRCm39)	D114E	possibly damaging	Het
Tpx2	A	T	2: 152,726,933 (GRCm39)	Y400F	probably damaging	Het
Trhde	A	G	10: 114,532,014 (GRCm39)	I362T	possibly damaging	Het
Usp17ld	C	T	7: 102,899,381 (GRCm39)	G517E	probably benign	Het
Vmn1r22	A	T	6: 57,877,404 (GRCm39)	M191K	probably damaging	Het
Wdr6	G	A	9: 108,453,182 (GRCm39)	R234C	probably damaging	Het
Zdhhc22	C	T	12: 87,030,398 (GRCm39)	M183I	probably benign	Het
Zfp1007	C	A	5: 109,824,062 (GRCm39)	G463*	probably null	Het
Zfp949	C	A	9: 88,452,182 (GRCm39)	T584N	probably benign	Het

Other mutations in Etnk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01303:Etnk1	APN	6	143,126,392 (GRCm39)	missense	probably damaging	1.00
R0415:Etnk1	UTSW	6	143,126,500 (GRCm39)	missense	probably damaging	1.00
R0928:Etnk1	UTSW	6	143,130,429 (GRCm39)	missense	probably benign	0.00
R1542:Etnk1	UTSW	6	143,126,367 (GRCm39)	missense	probably benign	0.00
R4648:Etnk1	UTSW	6	143,141,000 (GRCm39)	missense	probably damaging	1.00
R4744:Etnk1	UTSW	6	143,132,319 (GRCm39)	missense	probably damaging	1.00
R4823:Etnk1	UTSW	6	143,113,364 (GRCm39)	critical splice donor site	probably null
R5039:Etnk1	UTSW	6	143,141,043 (GRCm39)	critical splice donor site	probably null
R5909:Etnk1	UTSW	6	143,143,164 (GRCm39)	missense	probably benign	0.02
R6207:Etnk1	UTSW	6	143,126,524 (GRCm39)	missense	probably damaging	0.99
R6743:Etnk1	UTSW	6	143,126,343 (GRCm39)	missense	possibly damaging	0.68
R7009:Etnk1	UTSW	6	143,148,880 (GRCm39)	critical splice donor site	probably null
R8985:Etnk1	UTSW	6	143,140,953 (GRCm39)	splice site	probably benign
R9518:Etnk1	UTSW	6	143,149,144 (GRCm39)	missense	probably benign	0.00
X0026:Etnk1	UTSW	6	143,126,452 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTTGACCTGGCAGAGTTAC -3'
(R):5'- GCACACCAGCACTATCTTTCAG -3'

Sequencing Primer
(F):5'- GAGTTACTGTCAAAATGGAGCTTAG -3'
(R):5'- CTTTCAGTACATAGTAAGGGCAAAGC -3'

Posted On

2022-07-18