Mutagenetix > Incidental Mutation

Incidental Mutation 'R6395:Slc5a7'

514756

Institutional Source

Beutler Lab

Gene Symbol

Slc5a7

Ensembl Gene

ENSMUSG00000023945

Gene Name

solute carrier family 5 (choline transporter), member 7

Synonyms

CHT1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6395 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54580618-54606062 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 54585849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 323 (V323I)

Ref Sequence

ENSEMBL: ENSMUSP00000093379 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095712]

AlphaFold

Q8BGY9

Predicted Effect

probably damaging
Transcript: ENSMUST00000095712
AA Change: V323I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000093379
Gene: ENSMUSG00000023945
AA Change: V323I

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:SSF	42	442	4.7e-36	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.6%
20x: 98.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium ion- and chloride ion-dependent high-affinity transporter that mediates choline uptake for acetylcholine synthesis in cholinergic neurons. The protein transports choline from the extracellular space into presynaptic terminals for synthesis into acetylcholine. Increased choline uptake results from increased density of this protein in synaptosomal plasma membranes in response to depolarization of cholinergic terminals. Dysfunction of cholinergic signaling has been implicated in various disorders including depression, attention-deficit disorder, and schizophrenia. An allelic variant of this gene is associated with autosomal dominant distal hereditary motor neuronopathy type VIIA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
PHENOTYPE: Homozygous null mice display neonatal lethality with respiratory failure, hyporesponsiveness to touch, inability to sustain acetylcholine release, and abnormal neuromuscular junction morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actc1	C	A	2: 113,879,731 (GRCm39)	E243*	probably null	Het
Ahi1	T	C	10: 20,855,491 (GRCm39)	I600T	possibly damaging	Het
Apob	A	G	12: 8,058,507 (GRCm39)	T2330A	probably benign	Het
Cabin1	A	T	10: 75,582,576 (GRCm39)	M280K	probably benign	Het
Ccdc117	T	C	11: 5,484,762 (GRCm39)		probably null	Het
Cct8	G	T	16: 87,283,364 (GRCm39)	Y292*	probably null	Het
Celf1	A	G	2: 90,834,203 (GRCm39)	I165V	probably benign	Het
Cenpc1	A	T	5: 86,183,429 (GRCm39)	N453K	probably benign	Het
Chst10	T	C	1: 38,910,770 (GRCm39)	I131M	probably damaging	Het
Cltc	A	G	11: 86,616,006 (GRCm39)	I420T	probably damaging	Het
Cspg4b	T	G	13: 113,506,003 (GRCm39)	C2377W	probably damaging	Het
Dact3	A	C	7: 16,617,086 (GRCm39)	Q95P	probably damaging	Het
Dennd2c	T	C	3: 103,056,540 (GRCm39)		probably null	Het
Dock2	G	T	11: 34,182,874 (GRCm39)	H1586Q	probably damaging	Het
Dst	T	C	1: 34,221,771 (GRCm39)	M2525T	probably benign	Het
Egflam	T	C	15: 7,261,176 (GRCm39)	H786R	probably damaging	Het
Eml6	T	C	11: 29,759,321 (GRCm39)	T811A	probably benign	Het
Epha1	T	C	6: 42,343,106 (GRCm39)	T148A	probably damaging	Het
Fsip1	A	C	2: 118,067,406 (GRCm39)	S306A	probably damaging	Het
Gga2	A	T	7: 121,607,661 (GRCm39)		probably null	Het
Gm10801	C	CGTT	2: 98,494,152 (GRCm39)		probably benign	Het
Gm9837	T	A	11: 53,360,885 (GRCm39)		probably benign	Het
Gnl2	A	T	4: 124,940,058 (GRCm39)	Q310L	probably damaging	Het
H2-M1	T	C	17: 36,982,701 (GRCm39)	D53G	probably benign	Het
Hmcn2	T	A	2: 31,259,269 (GRCm39)	D1036E	probably damaging	Het
Htr3a	A	T	9: 48,811,871 (GRCm39)	D381E	probably benign	Het
Igdcc4	G	A	9: 65,042,400 (GRCm39)	G106R	probably damaging	Het
Igfbp2	A	G	1: 72,864,078 (GRCm39)	T114A	probably damaging	Het
Ints14	A	G	9: 64,885,406 (GRCm39)		probably null	Het
Kcnt1	T	A	2: 25,799,251 (GRCm39)	M906K	possibly damaging	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Lars2	A	G	9: 123,200,990 (GRCm39)	Q18R	probably benign	Het
Mndal	C	T	1: 173,698,999 (GRCm39)	C222Y	possibly damaging	Het
Msto1	C	T	3: 88,812,781 (GRCm39)	A1854V	possibly damaging	Het
Musk	G	A	4: 58,286,169 (GRCm39)	G20R	probably benign	Het
Or6c215	G	T	10: 129,638,013 (GRCm39)	P127Q	probably damaging	Het
Oxct1	G	T	15: 4,056,309 (GRCm39)	S19I	possibly damaging	Het
Papss2	G	A	19: 32,641,876 (GRCm39)	G517D	probably damaging	Het
Parp14	T	C	16: 35,676,918 (GRCm39)	S1017G	probably benign	Het
Pde2a	A	G	7: 101,150,242 (GRCm39)	Q227R	probably benign	Het
Pdlim5	G	T	3: 142,020,183 (GRCm39)	P92Q	probably damaging	Het
Pkd1l3	C	T	8: 110,350,595 (GRCm39)	T480I	probably benign	Het
Pla2g4c	C	T	7: 13,077,933 (GRCm39)	T357I	probably benign	Het
Ppp3ca	A	G	3: 136,583,531 (GRCm39)	R213G	possibly damaging	Het
Pramel18	G	A	4: 101,767,189 (GRCm39)	R146H	probably benign	Het
Prrc1	C	T	18: 57,495,619 (GRCm39)	S32L	probably null	Het
Prss47	C	T	13: 65,197,116 (GRCm39)	V207I	probably benign	Het
Prtg	G	A	9: 72,819,414 (GRCm39)	V1136I	possibly damaging	Het
Psmb8	T	A	17: 34,418,265 (GRCm39)	M69K	possibly damaging	Het
Rb1	A	T	14: 73,436,636 (GRCm39)	D876E	probably damaging	Het
Rnasel	T	C	1: 153,637,867 (GRCm39)	M680T	probably damaging	Het
Rnf111	G	T	9: 70,383,692 (GRCm39)	N80K	possibly damaging	Het
Senp1	C	T	15: 97,946,074 (GRCm39)	C557Y	probably damaging	Het
Serpina3a	A	T	12: 104,082,710 (GRCm39)	Y161F	probably damaging	Het
Serpinb11	A	T	1: 107,299,781 (GRCm39)		probably null	Het
Sgpl1	C	A	10: 60,947,936 (GRCm39)		probably null	Het
Slc37a4	A	G	9: 44,310,576 (GRCm39)	Y60C	probably damaging	Het
Slc38a10	A	G	11: 120,015,208 (GRCm39)	S381P	probably benign	Het
Slco1a7	T	A	6: 141,668,818 (GRCm39)		probably null	Het
Smarcal1	A	T	1: 72,655,716 (GRCm39)	E665V	possibly damaging	Het
Specc1	C	A	11: 62,023,164 (GRCm39)	N736K	probably damaging	Het
Tas2r121	T	C	6: 132,677,495 (GRCm39)	Y159C	probably benign	Het
Tex54	A	G	19: 8,718,462 (GRCm39)	D68G	probably benign	Het
Trank1	A	G	9: 111,196,268 (GRCm39)	I1431V	probably damaging	Het
Ttll6	T	C	11: 96,047,414 (GRCm39)	V671A	probably benign	Het
Ttn	A	T	2: 76,748,931 (GRCm39)		probably benign	Het
Uimc1	T	C	13: 55,188,389 (GRCm39)	T557A	possibly damaging	Het
Uri1	C	A	7: 37,661,974 (GRCm39)	V446L	probably benign	Het
Vpreb1b	C	T	16: 17,798,771 (GRCm39)	R86C	probably damaging	Het
Vwa8	A	G	14: 79,331,184 (GRCm39)	K1231E	probably benign	Het
Xcr1	G	A	9: 123,684,854 (GRCm39)	R303C	probably damaging	Het
Zfp619	C	A	7: 39,186,454 (GRCm39)	A828E	possibly damaging	Het
Zfp687	T	C	3: 94,915,049 (GRCm39)	S1151G	possibly damaging	Het

Other mutations in Slc5a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01098:Slc5a7	APN	17	54,599,988 (GRCm39)	missense	probably benign	0.00
IGL01833:Slc5a7	APN	17	54,588,861 (GRCm39)	missense	probably damaging	1.00
IGL02206:Slc5a7	APN	17	54,604,022 (GRCm39)	missense	probably damaging	0.98
IGL02493:Slc5a7	APN	17	54,600,908 (GRCm39)	missense	probably damaging	1.00
IGL02598:Slc5a7	APN	17	54,591,221 (GRCm39)	missense	probably benign
IGL02693:Slc5a7	APN	17	54,583,947 (GRCm39)	missense	probably benign	0.00
IGL02896:Slc5a7	APN	17	54,600,045 (GRCm39)	nonsense	probably null
R0288:Slc5a7	UTSW	17	54,600,046 (GRCm39)	nonsense	probably null
R1137:Slc5a7	UTSW	17	54,600,039 (GRCm39)	missense	probably damaging	1.00
R1692:Slc5a7	UTSW	17	54,588,754 (GRCm39)	missense	probably damaging	0.99
R1755:Slc5a7	UTSW	17	54,600,006 (GRCm39)	missense	probably benign	0.01
R1987:Slc5a7	UTSW	17	54,600,863 (GRCm39)	missense	probably damaging	1.00
R2373:Slc5a7	UTSW	17	54,584,154 (GRCm39)	missense	probably damaging	1.00
R4170:Slc5a7	UTSW	17	54,583,886 (GRCm39)	missense	probably benign	0.08
R4614:Slc5a7	UTSW	17	54,583,587 (GRCm39)	missense	probably benign	0.00
R4785:Slc5a7	UTSW	17	54,585,728 (GRCm39)	missense	probably damaging	1.00
R4793:Slc5a7	UTSW	17	54,588,822 (GRCm39)	missense	possibly damaging	0.95
R4828:Slc5a7	UTSW	17	54,583,827 (GRCm39)	missense	probably benign	0.11
R4847:Slc5a7	UTSW	17	54,584,168 (GRCm39)	missense	possibly damaging	0.82
R4879:Slc5a7	UTSW	17	54,583,679 (GRCm39)	missense	probably benign	0.04
R5152:Slc5a7	UTSW	17	54,585,861 (GRCm39)	missense	possibly damaging	0.51
R5171:Slc5a7	UTSW	17	54,583,704 (GRCm39)	missense	probably benign
R5196:Slc5a7	UTSW	17	54,588,750 (GRCm39)	critical splice donor site	probably null
R5935:Slc5a7	UTSW	17	54,583,972 (GRCm39)	nonsense	probably null
R6307:Slc5a7	UTSW	17	54,584,006 (GRCm39)	missense	probably benign	0.12
R6354:Slc5a7	UTSW	17	54,584,061 (GRCm39)	missense	probably damaging	1.00
R6357:Slc5a7	UTSW	17	54,594,389 (GRCm39)	missense	probably benign	0.33
R6500:Slc5a7	UTSW	17	54,591,231 (GRCm39)	missense	probably benign
R6643:Slc5a7	UTSW	17	54,583,644 (GRCm39)	missense	probably benign	0.00
R7062:Slc5a7	UTSW	17	54,600,029 (GRCm39)	missense	probably damaging	1.00
R7405:Slc5a7	UTSW	17	54,604,161 (GRCm39)	missense	probably benign
R7470:Slc5a7	UTSW	17	54,583,990 (GRCm39)	nonsense	probably null
R7477:Slc5a7	UTSW	17	54,588,787 (GRCm39)	missense	probably damaging	1.00
R7942:Slc5a7	UTSW	17	54,583,709 (GRCm39)	missense	possibly damaging	0.69
R8348:Slc5a7	UTSW	17	54,583,655 (GRCm39)	missense	possibly damaging	0.62
R8928:Slc5a7	UTSW	17	54,591,258 (GRCm39)	missense	possibly damaging	0.84
R9082:Slc5a7	UTSW	17	54,604,139 (GRCm39)	missense	probably benign	0.00
R9192:Slc5a7	UTSW	17	54,594,389 (GRCm39)	missense	probably benign	0.33
R9359:Slc5a7	UTSW	17	54,583,669 (GRCm39)	missense	probably benign	0.01
R9403:Slc5a7	UTSW	17	54,583,669 (GRCm39)	missense	probably benign	0.01
R9722:Slc5a7	UTSW	17	54,603,985 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGGCAATGGCAACGACTACTAG -3'
(R):5'- GAACGCTATCAATATTCGCTGG -3'

Sequencing Primer
(F):5'- TGGCAACGACTACTAGTACTACTAC -3'
(R):5'- TATCAATATTCGCTGGACCCAGG -3'

Posted On

2018-05-04