Mutagenetix > Incidental Mutation

Incidental Mutation 'R9722:Slc5a7'

730880

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 #

R9722 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54580618-54606062 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 54603985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000093379 (fasta)

Gene Model

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

AlphaFold

Q8BGY9

Predicted Effect

probably null
Transcript: ENSMUST00000095712

SMART Domains

Protein: ENSMUSP00000093379
Gene: ENSMUSG00000023945

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: 99.9%
10x: 99.7%
20x: 99.2%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	T	10: 29,094,269 (GRCm39)	I52F	probably benign	Het
Abcc3	A	T	11: 94,250,072 (GRCm39)	L1017Q	probably damaging	Het
Antxr2	T	C	5: 98,096,186 (GRCm39)	D366G	possibly damaging	Het
Astn2	C	T	4: 65,831,978 (GRCm39)	V563I	probably benign	Het
Atrn	C	A	2: 130,803,536 (GRCm39)	D575E	probably damaging	Het
Baz1a	C	T	12: 54,946,882 (GRCm39)	D1228N	probably benign	Het
Canx	A	G	11: 50,195,301 (GRCm39)	S256P	probably benign	Het
Ccnt2	T	A	1: 127,729,925 (GRCm39)	D267E	probably damaging	Het
Cd209c	G	T	8: 3,995,905 (GRCm39)	R2S	probably benign	Het
Cyfip2	T	C	11: 46,087,135 (GRCm39)	T1252A	probably benign	Het
Dchs2	A	G	3: 83,261,301 (GRCm39)	Y2523C	probably benign	Het
Dmxl2	G	A	9: 54,323,892 (GRCm39)	P990L	probably benign	Het
Dnajc9	T	C	14: 20,438,279 (GRCm39)	I108V	probably benign	Het
Eif2d	T	C	1: 131,092,948 (GRCm39)		probably null	Het
Ephb2	T	C	4: 136,384,768 (GRCm39)	D881G	probably damaging	Het
Esr1	A	G	10: 4,951,215 (GRCm39)	N531S	probably benign	Het
Fbxo2	G	A	4: 148,248,883 (GRCm39)	R125H	probably damaging	Het
Foxred1	C	T	9: 35,117,300 (GRCm39)	S277N	possibly damaging	Het
Gemin5	T	C	11: 58,041,418 (GRCm39)	E518G	probably damaging	Het
Gm17655	A	G	5: 110,194,226 (GRCm39)	Y519H	probably benign	Het
Igkv4-57-1	A	T	6: 69,521,493 (GRCm39)	W70R	probably damaging	Het
Krtap4-13	A	G	11: 99,700,180 (GRCm39)	S160P	unknown	Het
Map3k3	A	G	11: 106,033,361 (GRCm39)	I205V	possibly damaging	Het
Map3k4	A	C	17: 12,490,523 (GRCm39)	F303V	probably benign	Het
Mpdz	T	C	4: 81,304,504 (GRCm39)	Q132R	probably damaging	Het
Myo10	T	A	15: 25,801,227 (GRCm39)	V1472E	probably damaging	Het
Nckap1	G	A	2: 80,401,568 (GRCm39)	Q39*	probably null	Het
Nog	A	G	11: 89,192,396 (GRCm39)	S151P	probably damaging	Het
Obox6	G	A	7: 15,568,831 (GRCm39)	S15F	probably benign	Het
Odf2	A	G	2: 29,813,594 (GRCm39)	H647R	possibly damaging	Het
Or6c74	A	G	10: 129,869,500 (GRCm39)	R2G	probably benign	Het
Pcdhga11	T	C	18: 37,890,398 (GRCm39)	S469P	possibly damaging	Het
Pcnx4	T	C	12: 72,603,039 (GRCm39)	Y434H	probably damaging	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Pglyrp3	A	G	3: 91,938,695 (GRCm39)	K290R	possibly damaging	Het
Phactr3	G	A	2: 177,898,043 (GRCm39)	E86K	probably damaging	Het
Piezo1	A	C	8: 123,225,497 (GRCm39)	L530R		Het
Pigg	A	T	5: 108,495,767 (GRCm39)	I935F	possibly damaging	Het
Pofut2	T	C	10: 77,102,759 (GRCm39)	S282P	possibly damaging	Het
Ppfia1	A	G	7: 144,071,402 (GRCm39)	S337P	probably benign	Het
Sdr16c5	A	T	4: 4,005,595 (GRCm39)	D246E	probably benign	Het
Sgsm1	T	A	5: 113,428,207 (GRCm39)	H327L	possibly damaging	Het
Slc39a4	A	G	15: 76,500,211 (GRCm39)	I113T	possibly damaging	Het
Snx11	A	G	11: 96,661,925 (GRCm39)	S86P	probably benign	Het
Srm	T	A	4: 148,676,245 (GRCm39)		probably null	Het
Tas2r126	T	C	6: 42,412,082 (GRCm39)	I205T	possibly damaging	Het
Tek	T	G	4: 94,692,539 (GRCm39)	W216G	possibly damaging	Het
Tenm3	A	T	8: 48,753,849 (GRCm39)	S851R	probably benign	Het
Tnip2	A	G	5: 34,654,212 (GRCm39)	V288A	probably benign	Het
Tpx2	T	A	2: 152,733,476 (GRCm39)		probably null	Het
Trim33	C	A	3: 103,261,146 (GRCm39)	T1115K	possibly damaging	Het
Tspan13	T	A	12: 36,074,017 (GRCm39)	I40F	probably damaging	Het
Ube2v2	T	C	16: 15,394,899 (GRCm39)	I91V	probably benign	Het
Vmn1r22	A	T	6: 57,877,631 (GRCm39)	F115L	probably benign	Het
Vmn2r7	G	A	3: 64,598,407 (GRCm39)	P717S	probably damaging	Het
Zan	T	C	5: 137,387,324 (GRCm39)	T4910A	unknown	Het
Zfp599	T	A	9: 22,160,741 (GRCm39)	T475S	probably damaging	Het
Zfp638	T	A	6: 83,923,301 (GRCm39)	F700I	probably damaging	Het
Zfp985	A	C	4: 147,667,618 (GRCm39)	K162T	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTCAAGAGAGACCACGTTGC -3'
(R):5'- TCCACGTAGAAGGACTGGTAGC -3'

Sequencing Primer
(F):5'- AGAGAGACCACGTTGCTTCCC -3'
(R):5'- CGTAGAAGGACTGGTAGCTATTATCC -3'

Posted On

2022-10-06