Mutagenetix > Incidental Mutation

Incidental Mutation 'R4744:Etnk1'

356576

Institutional Source

Beutler Lab

Gene Symbol

Etnk1

Ensembl Gene

ENSMUSG00000030275

Gene Name

ethanolamine kinase 1

Synonyms

1110061E11Rik, D6Ertd3e, EKI1, 4930555L11Rik

MMRRC Submission

042027-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4744 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143112592-143154272 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 143132319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 220 (N220T)

Ref Sequence

ENSEMBL: ENSMUSP00000144903 (fasta)

Gene Model

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

AlphaFold

Q9D4V0

Predicted Effect

probably damaging
Transcript: ENSMUST00000032413
AA Change: N220T

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

SMART Domains

Protein: ENSMUSP00000032413
Gene: ENSMUSG00000030275
AA Change: N220T

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

noncoding transcript
Transcript: ENSMUST00000203341

Predicted Effect

probably damaging
Transcript: ENSMUST00000204947
AA Change: N220T

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

SMART Domains

Protein: ENSMUSP00000145041
Gene: ENSMUSG00000030275
AA Change: N220T

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: N220T

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

SMART Domains

Protein: ENSMUSP00000144903
Gene: ENSMUSG00000030275
AA Change: N220T

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

Meta Mutation Damage Score

0.9005

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

99% (82/83)

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
4930519G04Rik	T	C	5: 115,017,617 (GRCm39)	S143P	possibly damaging	Het
4933427D14Rik	T	C	11: 72,066,365 (GRCm39)	K614E	probably damaging	Het
Aatk	A	G	11: 119,906,948 (GRCm39)	M155T	possibly damaging	Het
Acvr2b	T	C	9: 119,260,328 (GRCm39)	L333P	probably damaging	Het
Adam22	T	C	5: 8,128,699 (GRCm39)	E865G	probably damaging	Het
Add2	A	G	6: 86,087,870 (GRCm39)	S358G	probably damaging	Het
Agap2	T	C	10: 126,926,072 (GRCm39)		probably null	Het
Alkbh8	G	A	9: 3,344,604 (GRCm39)	W49*	probably null	Het
AU015228	A	T	2: 129,942,549 (GRCm39)		noncoding transcript	Het
Bank1	G	T	3: 135,953,450 (GRCm39)	R102S	probably benign	Het
Brap	T	A	5: 121,800,193 (GRCm39)	D27E	probably damaging	Het
Cyb5r2	G	T	7: 107,349,484 (GRCm39)	H276N	possibly damaging	Het
Dhh	A	G	15: 98,792,139 (GRCm39)	F290L	possibly damaging	Het
Dhrs7	T	A	12: 72,699,025 (GRCm39)	N319I	possibly damaging	Het
Ebpl	A	G	14: 61,597,682 (GRCm39)	V53A	probably damaging	Het
Eif3j2	TGCCGCCGCCGCCGCCGCCGCCGCCGCC	TGCCGCCGCCGCCGCCGCCGCCGCC	18: 43,610,782 (GRCm39)		probably benign	Het
F11r	T	A	1: 171,288,166 (GRCm39)	V64D	probably benign	Het
Fam171a1	T	C	2: 3,225,946 (GRCm39)	S360P	probably damaging	Het
Fignl1	A	G	11: 11,751,585 (GRCm39)	M490T	probably damaging	Het
Fpr-rs7	A	T	17: 20,334,265 (GRCm39)	M75K	probably benign	Het
Fzd7	T	A	1: 59,523,595 (GRCm39)	F493I	possibly damaging	Het
Galnt14	G	T	17: 73,814,828 (GRCm39)	P412T	probably damaging	Het
Gcg	T	A	2: 62,308,975 (GRCm39)	S60C	probably damaging	Het
Ggt1	A	G	10: 75,421,733 (GRCm39)	K527E	probably benign	Het
Gm16551	T	A	9: 74,758,153 (GRCm39)		noncoding transcript	Het
Gm9972	A	G	11: 42,927,517 (GRCm39)	K55E	unknown	Het
Gpr141	T	A	13: 19,935,884 (GRCm39)	D297V	probably benign	Het
Grin2b	G	A	6: 135,755,697 (GRCm39)	S539L	probably damaging	Het
Hhipl1	A	T	12: 108,286,238 (GRCm39)	N515I	possibly damaging	Het
Hmcn1	T	G	1: 150,453,363 (GRCm39)	E5317D	probably damaging	Het
Hsf5	T	A	11: 87,513,617 (GRCm39)	N227K	probably benign	Het
Igfn1	A	T	1: 135,910,196 (GRCm39)	D129E	probably benign	Het
Invs	T	C	4: 48,397,609 (GRCm39)	F339L	probably damaging	Het
Jak2	T	A	19: 29,239,656 (GRCm39)	S17T	probably benign	Het
Mdga2	T	A	12: 66,844,501 (GRCm39)	I166F	probably benign	Het
Nck1	T	C	9: 100,388,797 (GRCm39)	I6V	probably benign	Het
Neb	T	C	2: 52,040,589 (GRCm39)	D6624G	probably benign	Het
Nmur2	A	G	11: 55,931,661 (GRCm39)	Y17H	probably benign	Het
Nwd2	T	C	5: 63,964,310 (GRCm39)	L1298P	probably damaging	Het
Ocel1	A	G	8: 71,825,397 (GRCm39)	E161G	probably damaging	Het
Or1j16	A	T	2: 36,530,991 (GRCm39)		probably null	Het
Pabpc2	A	G	18: 39,907,881 (GRCm39)	Y382C	probably benign	Het
Panx1	A	G	9: 14,921,594 (GRCm39)		probably benign	Het
Pdhx	A	T	2: 102,872,641 (GRCm39)	V147D	probably benign	Het
Pigz	A	T	16: 31,764,151 (GRCm39)	H403L	probably damaging	Het
Pilra	T	C	5: 137,833,769 (GRCm39)		probably null	Het
Rbm47	T	C	5: 66,184,036 (GRCm39)	D189G	probably damaging	Het
Rhobtb2	A	G	14: 70,031,451 (GRCm39)	L558P	probably damaging	Het
Scarf2	G	A	16: 17,621,380 (GRCm39)	R322H	probably damaging	Het
Septin3	T	C	15: 82,174,658 (GRCm39)		probably null	Het
Sirt2	T	C	7: 28,476,438 (GRCm39)	F26L	probably damaging	Het
Slc1a1	A	T	19: 28,871,925 (GRCm39)	T133S	probably benign	Het
Slc1a2	A	G	2: 102,568,214 (GRCm39)	I84V	probably benign	Het
Slc28a2b	A	T	2: 122,353,286 (GRCm39)	K489*	probably null	Het
Slc6a9	A	T	4: 117,725,092 (GRCm39)	Q562L	probably benign	Het
Snx29	C	T	16: 11,167,773 (GRCm39)	Q25*	probably null	Het
St6galnac6	A	G	2: 32,508,555 (GRCm39)	I231V	probably damaging	Het
Stard9	A	G	2: 120,526,604 (GRCm39)	T954A	probably benign	Het
Sufu	A	G	19: 46,472,069 (GRCm39)	M443V	possibly damaging	Het
Sv2b	T	C	7: 74,856,266 (GRCm39)	D8G	probably benign	Het
Tapbpl	G	A	6: 125,205,248 (GRCm39)	R233W	probably damaging	Het
Tex10	A	G	4: 48,469,990 (GRCm39)	L25S	probably benign	Het
Trp53bp1	A	T	2: 121,041,794 (GRCm39)	V1254D	probably damaging	Het
Ugt3a1	T	A	15: 9,310,639 (GRCm39)	I307N	probably benign	Het
Unc13c	T	C	9: 73,839,126 (GRCm39)	D575G	probably damaging	Het
Usf2	A	T	7: 30,654,197 (GRCm39)	D166E	probably damaging	Het
Usp25	T	A	16: 76,911,877 (GRCm39)	L969M	probably damaging	Het
Usp32	G	A	11: 84,885,219 (GRCm39)	P1276L	probably damaging	Het
Vmn2r8	T	A	5: 108,956,447 (GRCm39)	E58D	probably benign	Het
Zfp462	G	T	4: 55,011,598 (GRCm39)	C40F	probably damaging	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
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
R9486:Etnk1	UTSW	6	143,130,310 (GRCm39)	missense	probably damaging	1.00
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'- CAGGTGTTGAGAGTGGACAC -3'
(R):5'- CATGCTTTCAAAATCACAAGTAGCC -3'

Sequencing Primer
(F):5'- TGGACACCACAGCTGCTC -3'
(R):5'- TTTCAAAATCACAAGTAGCCAAACAG -3'

Posted On

2015-11-11