Mutagenetix > Incidental Mutation

Incidental Mutation 'R9192:Slc5a7'

697769

Institutional Source

Beutler Lab

Gene Symbol

Slc5a7

Ensembl Gene

ENSMUSG00000023945

Gene Name

solute carrier family 5 (choline transporter), member 7

Synonyms

CHT1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9192 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54580618-54606062 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54594389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 197 (I197M)

Ref Sequence

ENSEMBL: ENSMUSP00000093379 (fasta)

Gene Model

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

AlphaFold

Q8BGY9

Predicted Effect

probably benign
Transcript: ENSMUST00000095712
AA Change: I197M

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000093379
Gene: ENSMUSG00000023945
AA Change: I197M

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: 99.7%
20x: 99.0%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	A	7: 75,354,249 (GRCm39)	M71K	probably benign	Het
Angptl4	C	T	17: 34,000,285 (GRCm39)	A28T	probably benign	Het
Baz1b	T	G	5: 135,239,648 (GRCm39)	N249K	possibly damaging	Het
BC035947	A	T	1: 78,475,877 (GRCm39)	Y218*	probably null	Het
Ctbp1	T	C	5: 33,408,333 (GRCm39)	I211V	probably benign	Het
Dars1	T	C	1: 128,299,889 (GRCm39)	E365G	probably benign	Het
E2f7	G	T	10: 110,599,851 (GRCm39)	R202L	probably damaging	Het
Fscb	A	C	12: 64,520,890 (GRCm39)	I192S	possibly damaging	Het
Fsip2	A	G	2: 82,817,844 (GRCm39)	I4526V	probably benign	Het
Gucy2e	A	T	11: 69,127,303 (GRCm39)	F57I	probably damaging	Het
Hcar2	A	T	5: 124,003,354 (GRCm39)	C50S	possibly damaging	Het
Herc1	G	A	9: 66,321,413 (GRCm39)	V1267I	probably benign	Het
Kansl1	A	T	11: 104,227,142 (GRCm39)	D845E	probably damaging	Het
Kdm2b	T	A	5: 123,070,679 (GRCm39)	T473S	probably benign	Het
Klhdc10	T	A	6: 30,449,499 (GRCm39)	I327N	probably damaging	Het
Kmt5b	T	C	19: 3,854,442 (GRCm39)	L235P	probably damaging	Het
Lama2	C	T	10: 27,204,181 (GRCm39)	E486K	possibly damaging	Het
Lhx6	A	T	2: 35,981,145 (GRCm39)	W266R	probably benign	Het
Mettl15	A	T	2: 109,104,810 (GRCm39)	L65*	probably null	Het
Mocos	A	G	18: 24,812,594 (GRCm39)	Q496R	probably benign	Het
Neb	T	C	2: 52,203,847 (GRCm39)	S285G	probably damaging	Het
Nos3	A	G	5: 24,582,611 (GRCm39)	N613S	probably benign	Het
Nphs2	G	A	1: 156,138,386 (GRCm39)	R10Q	probably benign	Het
Or2ag16	A	G	7: 106,352,430 (GRCm39)	L55P	probably damaging	Het
Or4x13	C	A	2: 90,231,716 (GRCm39)	T237N	probably damaging	Het
Or51i2	A	T	7: 103,689,875 (GRCm39)	I291F	possibly damaging	Het
Osbpl10	T	C	9: 114,996,294 (GRCm39)	C119R	probably damaging	Het
Otop1	T	C	5: 38,445,274 (GRCm39)	V144A	probably benign	Het
Ovca2	A	G	11: 75,068,862 (GRCm39)	V179A	possibly damaging	Het
Pcdha11	A	G	18: 37,140,527 (GRCm39)	T719A	probably benign	Het
Pcdhga1	A	G	18: 37,973,084 (GRCm39)	N900D	probably damaging	Het
Pcdhga8	A	T	18: 37,859,163 (GRCm39)	Q73L	probably damaging	Het
Pclo	A	G	5: 14,590,204 (GRCm39)	K835E	unknown	Het
Psmd2	T	A	16: 20,473,412 (GRCm39)	Y158N	probably damaging	Het
Pygl	A	G	12: 70,243,822 (GRCm39)	V631A	probably damaging	Het
Rhoq	A	T	17: 87,304,405 (GRCm39)	I179F		Het
Rnf26rt	T	C	6: 76,473,566 (GRCm39)	D350G	probably benign	Het
Rps6kb1	T	C	11: 86,404,381 (GRCm39)	I257M	probably damaging	Het
Sall3	G	A	18: 81,017,124 (GRCm39)	A268V	probably benign	Het
Serinc4	G	A	2: 121,287,250 (GRCm39)		probably benign	Het
Slc27a2	T	A	2: 126,429,807 (GRCm39)	M605K	probably damaging	Het
Slc6a7	A	G	18: 61,133,649 (GRCm39)	Y516H	probably damaging	Het
Spag16	A	G	1: 69,963,007 (GRCm39)	T385A	unknown	Het
Stat6	G	A	10: 127,493,479 (GRCm39)	R600H	probably damaging	Het
Stk32b	A	G	5: 37,786,344 (GRCm39)	V40A	probably damaging	Het
Sv2c	T	A	13: 96,224,755 (GRCm39)	I185L	probably benign	Het
Syne2	T	A	12: 76,156,703 (GRCm39)	L2115H	probably damaging	Het
Tas2r121	T	C	6: 132,677,492 (GRCm39)	E160G	probably benign	Het
Tle1	G	T	4: 72,036,753 (GRCm39)	T727K	probably benign	Het
Tmem79	A	T	3: 88,240,764 (GRCm39)	D61E	probably benign	Het
Tnrc18	C	A	5: 142,773,602 (GRCm39)	R409L		Het
Tnrc6a	C	A	7: 122,789,176 (GRCm39)	P1665Q	probably damaging	Het
Tns2	C	A	15: 102,021,416 (GRCm39)	P1027Q	probably damaging	Het
Trav7-5	C	G	14: 53,768,615 (GRCm39)	A61G	probably benign	Het
Ttn	A	G	2: 76,745,255 (GRCm39)	S5265P	possibly damaging	Het
Tuba1c	T	A	15: 98,935,737 (GRCm39)	Y399*	probably null	Het
Vav2	A	T	2: 27,172,394 (GRCm39)	I504N	probably damaging	Het
Vmn2r5	G	T	3: 64,398,938 (GRCm39)	C680*	probably null	Het
Zfp644	G	C	5: 106,785,829 (GRCm39)	S239R	probably benign	Het
Zfp954	C	T	7: 7,118,933 (GRCm39)	G204S	probably damaging	Het
Zswim8	C	T	14: 20,769,588 (GRCm39)	T1265I	probably 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
R6395:Slc5a7	UTSW	17	54,585,849 (GRCm39)	missense	probably damaging	1.00
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
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'- GGCACACATTTTGGTCAAAATC -3'
(R):5'- ACTGAGCTGCCTGATCATTTTC -3'

Sequencing Primer
(F):5'- GCCAGGGCTTTTGATCTATCTAG -3'
(R):5'- GCCTGATCATTTTCTTCCAGGGG -3'

Posted On

2022-02-07