Mutagenetix > Incidental Mutation

Incidental Mutation 'R1987:Slc5a7'

222755

Institutional Source

Beutler Lab

Gene Symbol

Slc5a7

Ensembl Gene

ENSMUSG00000023945

Gene Name

solute carrier family 5 (choline transporter), member 7

Synonyms

CHT1

MMRRC Submission

039999-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1987 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54580618-54606062 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54600863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 91 (Y91H)

Ref Sequence

ENSEMBL: ENSMUSP00000093379 (fasta)

Gene Model

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

AlphaFold

Q8BGY9

Predicted Effect

probably damaging
Transcript: ENSMUST00000095712
AA Change: Y91H

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

SMART Domains

Protein: ENSMUSP00000093379
Gene: ENSMUSG00000023945
AA Change: Y91H

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: 99.2%
3x: 98.4%
10x: 96.4%
20x: 92.6%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	T	19: 8,992,615 (GRCm39)	D4633V	probably damaging	Het
Akap6	T	C	12: 53,187,578 (GRCm39)	F1664S	possibly damaging	Het
Arhgef28	T	C	13: 98,103,604 (GRCm39)	M803V	probably benign	Het
Bltp1	T	A	3: 37,008,134 (GRCm39)		probably null	Het
Bltp2	A	T	11: 78,158,993 (GRCm39)	Q433L	probably damaging	Het
Ccdc73	T	A	2: 104,761,390 (GRCm39)	L130*	probably null	Het
Ccdc73	A	G	2: 104,829,504 (GRCm39)	E1059G	probably damaging	Het
Ccer2	A	C	7: 28,456,708 (GRCm39)	S151R	possibly damaging	Het
Cep128	T	A	12: 91,197,603 (GRCm39)	H406L	probably benign	Het
Cep135	A	G	5: 76,745,275 (GRCm39)	D229G	probably benign	Het
Cpvl	T	A	6: 53,931,596 (GRCm39)	D103V	probably benign	Het
Crppa	T	A	12: 36,571,995 (GRCm39)	L301Q	probably damaging	Het
Cstdc6	C	A	16: 36,142,194 (GRCm39)	G61C	probably damaging	Het
Disp3	G	A	4: 148,343,210 (GRCm39)	A567V	probably damaging	Het
Dnah5	T	C	15: 28,343,737 (GRCm39)	I2379T	probably damaging	Het
Dnah6	T	C	6: 73,072,027 (GRCm39)	Y2433C	probably damaging	Het
Dock3	A	G	9: 106,985,620 (GRCm39)	I85T	probably benign	Het
Dock9	A	C	14: 121,829,242 (GRCm39)	S1380A	probably benign	Het
Erbin	T	C	13: 104,022,711 (GRCm39)	T43A	probably benign	Het
Fastkd3	T	C	13: 68,733,360 (GRCm39)	V502A	possibly damaging	Het
Fn1	T	C	1: 71,690,784 (GRCm39)	H59R	probably damaging	Het
Fsd2	A	G	7: 81,209,407 (GRCm39)	V145A	possibly damaging	Het
Fzr1	A	G	10: 81,206,153 (GRCm39)	V178A	probably damaging	Het
Gnpnat1	T	C	14: 45,618,455 (GRCm39)	R116G	probably damaging	Het
Grm7	T	A	6: 110,891,472 (GRCm39)	V235E	probably damaging	Het
Hdac4	A	C	1: 91,862,367 (GRCm39)	N1002K	probably damaging	Het
Hey1	C	T	3: 8,729,957 (GRCm39)	A167T	probably benign	Het
Hrnr	A	G	3: 93,239,911 (GRCm39)	N3383S	unknown	Het
Ints2	A	T	11: 86,108,626 (GRCm39)	V907D	probably benign	Het
Jchain	T	A	5: 88,669,326 (GRCm39)	Q109L	probably damaging	Het
Klhdc7a	A	T	4: 139,693,335 (GRCm39)	Y537*	probably null	Het
Klra1	C	T	6: 130,354,742 (GRCm39)	S92N	probably benign	Het
Krt31	C	T	11: 99,940,406 (GRCm39)	G150S	probably benign	Het
Lrrc71	G	A	3: 87,649,950 (GRCm39)	T326M	probably benign	Het
Lrrn4	T	C	2: 132,712,363 (GRCm39)	T487A	probably benign	Het
Map4k5	T	G	12: 69,889,686 (GRCm39)	R198S	probably damaging	Het
Men1	G	A	19: 6,388,867 (GRCm39)	C354Y	probably damaging	Het
Ms4a18	A	T	19: 10,991,019 (GRCm39)	V25E	probably damaging	Het
Mutyh	T	A	4: 116,676,565 (GRCm39)	S512R	possibly damaging	Het
Myh10	G	T	11: 68,705,322 (GRCm39)	A1947S	possibly damaging	Het
Nfasc	T	C	1: 132,538,624 (GRCm39)	D427G	probably damaging	Het
Nlrp9c	A	G	7: 26,077,481 (GRCm39)	M767T	probably benign	Het
Nrbp1	T	C	5: 31,402,735 (GRCm39)	L185P	probably damaging	Het
Pcdh9	G	A	14: 94,125,741 (GRCm39)	P143L	probably damaging	Het
Pcsk6	A	T	7: 65,577,035 (GRCm39)	M158L	possibly damaging	Het
Pkd1	G	T	17: 24,795,566 (GRCm39)		probably null	Het
Plk4	A	T	3: 40,760,252 (GRCm39)	S383C	possibly damaging	Het
Plxna2	T	C	1: 194,326,297 (GRCm39)	L77P	probably damaging	Het
Pnpla6	A	T	8: 3,592,370 (GRCm39)	T1209S	probably benign	Het
Prdm2	A	G	4: 142,859,079 (GRCm39)	S1404P	possibly damaging	Het
Preb	T	C	5: 31,116,157 (GRCm39)	D150G	probably damaging	Het
Prrt2	A	G	7: 126,617,902 (GRCm39)	V59A	probably benign	Het
Prss40	T	C	1: 34,597,095 (GRCm39)	N151S	possibly damaging	Het
Ptprt	G	T	2: 161,400,818 (GRCm39)	A1053D	probably damaging	Het
Ptprt	A	G	2: 161,608,241 (GRCm39)	V685A	possibly damaging	Het
Rfx4	C	T	10: 84,731,952 (GRCm39)	S549F	possibly damaging	Het
Rnaset2b	T	A	17: 7,263,876 (GRCm39)	V87E	probably benign	Het
Rnf213	G	A	11: 119,331,933 (GRCm39)	E2381K	probably damaging	Het
Sectm1a	A	T	11: 120,960,506 (GRCm39)	I103N	probably damaging	Het
Selp	T	A	1: 163,970,327 (GRCm39)	L597Q	probably damaging	Het
Sema6a	T	C	18: 47,433,209 (GRCm39)	D74G	probably damaging	Het
Serpinb9b	T	C	13: 33,213,542 (GRCm39)	V33A	probably benign	Het
Setd1b	A	T	5: 123,285,769 (GRCm39)	T272S	unknown	Het
Sgf29	G	C	7: 126,248,649 (GRCm39)		probably null	Het
Slc4a10	C	A	2: 62,098,548 (GRCm39)	Q561K	probably damaging	Het
Slc4a5	T	C	6: 83,250,214 (GRCm39)	I649T	possibly damaging	Het
Styxl1	T	C	5: 135,785,976 (GRCm39)	Y23C	probably damaging	Het
Tbc1d24	A	G	17: 24,425,846 (GRCm39)	V490A	possibly damaging	Het
Tbpl2	A	T	2: 23,984,744 (GRCm39)	F133L	probably benign	Het
Tnfrsf22	T	C	7: 143,192,126 (GRCm39)		probably benign	Het
Top2b	A	G	14: 16,398,916 (GRCm38)	E512G	probably damaging	Het
Trgc3	C	A	13: 19,445,164 (GRCm39)	F37L	probably damaging	Het
Ttc17	T	A	2: 94,194,690 (GRCm39)	H561L	probably benign	Het
Ttll4	G	T	1: 74,724,527 (GRCm39)	V566L	possibly damaging	Het
Ubqlnl	A	G	7: 103,797,692 (GRCm39)	Y602H	probably benign	Het
Vmn1r231	T	A	17: 21,110,212 (GRCm39)	E234D	probably damaging	Het
Wbp11	A	G	6: 136,797,583 (GRCm39)	S279P	probably damaging	Het
Wdr6	A	G	9: 108,453,733 (GRCm39)	L50P	probably damaging	Het
Zfp715	A	C	7: 42,948,073 (GRCm39)	I629S	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
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
R9722:Slc5a7	UTSW	17	54,603,985 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGACAACTGAGTTGATTAGGCTC -3'
(R):5'- ACCCAATGGCTACTGTGTTGG -3'

Sequencing Primer
(F):5'- CAACTGAGTTGATTAGGCTCTAATG -3'
(R):5'- GACAGATGGGCTTAGGGCAC -3'

Posted On

2014-08-25