Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02598:Slc5a7'

299953

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02598

Quality Score

Status

Chromosome

Chromosomal Location

54580618-54606062 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54591221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 237 (V237A)

Ref Sequence

ENSEMBL: ENSMUSP00000093379 (fasta)

Gene Model

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

AlphaFold

Q8BGY9

Predicted Effect

probably benign
Transcript: ENSMUST00000095712
AA Change: V237A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000093379
Gene: ENSMUSG00000023945
AA Change: V237A

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

Coding Region Coverage

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	A	T	11: 50,834,448 (GRCm39)	M1K	probably null	Het
Abca13	C	T	11: 9,381,898 (GRCm39)	T3850I	probably damaging	Het
Abcc4	A	T	14: 118,905,781 (GRCm39)	L95*	probably null	Het
Acacb	A	G	5: 114,384,098 (GRCm39)	Y2209C	probably damaging	Het
Acadm	A	G	3: 153,644,181 (GRCm39)		probably benign	Het
Arid2	G	A	15: 96,269,417 (GRCm39)	V1177M	probably damaging	Het
Atp8a1	A	T	5: 67,840,099 (GRCm39)		probably null	Het
Catsperd	A	G	17: 56,954,815 (GRCm39)		probably null	Het
Cd28	A	G	1: 60,802,498 (GRCm39)		probably benign	Het
Cep164	A	G	9: 45,682,002 (GRCm39)	Y1934H	probably damaging	Het
Cep350	T	C	1: 155,738,713 (GRCm39)	I2377V	probably benign	Het
Csmd3	T	C	15: 47,533,086 (GRCm39)	K1581E	probably damaging	Het
Dab2	A	T	15: 6,458,847 (GRCm39)	N232I	probably damaging	Het
Dyrk4	G	A	6: 126,860,982 (GRCm39)		probably benign	Het
Efcab14	T	A	4: 115,597,631 (GRCm39)	C75*	probably null	Het
Elovl1	T	C	4: 118,288,616 (GRCm39)		probably null	Het
Eps8l2	T	G	7: 140,934,849 (GRCm39)		probably benign	Het
Grik1	A	T	16: 87,744,872 (GRCm39)	V460E	probably damaging	Het
Gtf2f2	A	G	14: 76,245,182 (GRCm39)	S35P	probably benign	Het
Ifi203	A	G	1: 173,762,568 (GRCm39)		probably benign	Het
Ifi209	T	C	1: 173,472,281 (GRCm39)	V374A	probably damaging	Het
Kics2	G	A	10: 121,575,876 (GRCm39)		probably benign	Het
Lars1	A	G	18: 42,360,342 (GRCm39)	S705P	possibly damaging	Het
Lcmt1	A	G	7: 123,020,871 (GRCm39)		probably benign	Het
Limd1	T	C	9: 123,345,933 (GRCm39)	S571P	probably benign	Het
Limd1	T	A	9: 123,309,236 (GRCm39)	Y312N	probably benign	Het
Lin28b	A	T	10: 45,296,622 (GRCm39)	D125E	possibly damaging	Het
Lmtk3	T	C	7: 45,442,564 (GRCm39)	S416P	probably damaging	Het
Map7d3	T	C	X: 55,855,146 (GRCm39)	T446A	probably benign	Het
Masp1	T	A	16: 23,278,381 (GRCm39)	M523L	probably benign	Het
Mroh4	C	A	15: 74,483,092 (GRCm39)		probably null	Het
Mtmr6	G	A	14: 60,537,953 (GRCm39)	A651T	probably damaging	Het
Myocd	A	G	11: 65,074,296 (GRCm39)	S738P	probably benign	Het
Or10a2	A	T	7: 106,673,923 (GRCm39)	N296I	possibly damaging	Het
Or4d5	A	T	9: 40,011,861 (GRCm39)	F308L	probably benign	Het
Or52l1	A	G	7: 104,830,163 (GRCm39)	V134A	probably damaging	Het
Or5d46	A	T	2: 88,170,595 (GRCm39)	I229F	possibly damaging	Het
Or6c3b	A	T	10: 129,527,142 (GRCm39)	I256N	possibly damaging	Het
Parg	G	T	14: 31,936,281 (GRCm39)	V479L	probably damaging	Het
Pcdhb10	C	A	18: 37,546,834 (GRCm39)	H637N	possibly damaging	Het
Plekhg2	G	A	7: 28,059,900 (GRCm39)	T1118I	possibly damaging	Het
Podxl	T	C	6: 31,501,355 (GRCm39)	E400G	probably damaging	Het
Prss54	C	A	8: 96,292,337 (GRCm39)	V81F	probably damaging	Het
Pzp	A	G	6: 128,464,420 (GRCm39)	L1369P	probably benign	Het
Rfx8	A	T	1: 39,735,128 (GRCm39)		probably benign	Het
Rgs6	C	T	12: 83,138,571 (GRCm39)	P302S	probably benign	Het
Rnf148	A	C	6: 23,654,456 (GRCm39)	I180S	probably damaging	Het
Sacm1l	A	G	9: 123,408,061 (GRCm39)	D350G	probably benign	Het
Slc33a1	C	T	3: 63,850,753 (GRCm39)	G524S	probably benign	Het
Spink7	T	C	18: 62,727,356 (GRCm39)	D56G	probably damaging	Het
Syn3	A	G	10: 86,303,063 (GRCm39)	S31P	probably damaging	Het
Tesl1	A	T	X: 23,773,710 (GRCm39)	T404S	probably benign	Het
Thrb	C	A	14: 18,008,606 (GRCm38)	P110Q	possibly damaging	Het
Vmn2r76	G	T	7: 85,877,879 (GRCm39)	T506K	probably benign	Het
Vps45	A	G	3: 95,938,354 (GRCm39)	L486P	probably benign	Het
Zan	G	A	5: 137,444,473 (GRCm39)	T1823M	unknown	Het
Zdhhc6	T	A	19: 55,302,959 (GRCm39)	Q14L	probably benign	Het
Zfp990	A	T	4: 145,263,533 (GRCm39)	N177I	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
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
R9722:Slc5a7	UTSW	17	54,603,985 (GRCm39)	critical splice donor site	probably null

Posted On

2015-04-16