Mutagenetix > Incidental Mutation

Incidental Mutation 'R4879:Slc5a7'

375173

Institutional Source

Beutler Lab

Gene Symbol

Slc5a7

Ensembl Gene

ENSMUSG00000023945

Gene Name

solute carrier family 5 (choline transporter), member 7

Synonyms

CHT1

MMRRC Submission

042488-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4879 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54580618-54606062 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54583679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 537 (I537T)

Ref Sequence

ENSEMBL: ENSMUSP00000093379 (fasta)

Gene Model

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

AlphaFold

Q8BGY9

Predicted Effect

probably benign
Transcript: ENSMUST00000095712
AA Change: I537T

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000093379
Gene: ENSMUSG00000023945
AA Change: I537T

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

Meta Mutation Damage Score

0.0817

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

97% (86/89)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,110,526 (GRCm39)	Y541F	probably damaging	Het
Acot12	T	A	13: 91,911,083 (GRCm39)	V136E	probably benign	Het
Aftph	A	G	11: 20,648,311 (GRCm39)		probably null	Het
Ambra1	C	T	2: 91,603,039 (GRCm39)		probably benign	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Ano9	T	C	7: 140,690,415 (GRCm39)	D73G	probably benign	Het
Asap3	G	A	4: 135,969,975 (GRCm39)	D778N	probably benign	Het
Atp8a2	G	T	14: 60,245,918 (GRCm39)	Y591*	probably null	Het
Blk	T	C	14: 63,613,414 (GRCm39)	T365A	probably benign	Het
C4b	G	T	17: 34,962,621 (GRCm39)	S27Y	probably damaging	Het
C6	G	T	15: 4,833,129 (GRCm39)		probably null	Het
Ccdc33	T	A	9: 57,974,839 (GRCm39)	I345F	possibly damaging	Het
Cetn3	T	A	13: 81,940,268 (GRCm39)		probably benign	Het
Cntn3	T	A	6: 102,244,389 (GRCm39)	I387L	possibly damaging	Het
Cog8	A	G	8: 107,782,984 (GRCm39)	C102R	probably damaging	Het
Cspg4b	T	C	13: 113,456,321 (GRCm39)	I789T	probably benign	Het
Cyp2c55	CA	C	19: 39,030,522 (GRCm39)		probably null	Het
Defa40	T	A	8: 21,740,380 (GRCm39)	L62Q	probably damaging	Het
Dmxl1	C	T	18: 50,022,534 (GRCm39)	A1624V	probably damaging	Het
Dnah1	T	G	14: 31,022,705 (GRCm39)	E1144A	possibly damaging	Het
Dnah12	T	A	14: 26,439,201 (GRCm39)		probably null	Het
Dnah2	G	A	11: 69,367,517 (GRCm39)	T1794I	probably damaging	Het
Entrep1	T	C	19: 23,953,019 (GRCm39)		probably null	Het
Erbin	A	T	13: 103,971,282 (GRCm39)	M778K	probably benign	Het
Fbxw10	G	T	11: 62,738,573 (GRCm39)	A156S	probably damaging	Het
Flnc	T	A	6: 29,460,805 (GRCm39)	F2632Y	probably damaging	Het
Frmd4a	A	G	2: 4,534,628 (GRCm39)	K160E	probably damaging	Het
Glipr1l2	A	G	10: 111,943,029 (GRCm39)	K295E	probably benign	Het
Herc1	T	A	9: 66,370,119 (GRCm39)	C465*	probably null	Het
Hoxb4	A	G	11: 96,211,014 (GRCm39)	I205V	probably damaging	Het
Ikbke	GCC	G	1: 131,203,004 (GRCm39)		probably null	Het
Il36a	A	G	2: 24,106,032 (GRCm39)	N29S	probably benign	Het
Ilk	A	G	7: 105,391,011 (GRCm39)	S292G	probably benign	Het
Itgb5	G	C	16: 33,696,348 (GRCm39)	G180R	probably damaging	Het
Josd1-ps	T	C	7: 27,648,768 (GRCm39)		noncoding transcript	Het
Kcnip4	T	C	5: 48,567,207 (GRCm39)	D120G	possibly damaging	Het
Kin	A	G	2: 10,085,455 (GRCm39)	D5G	probably benign	Het
Lrrtm2	C	A	18: 35,346,372 (GRCm39)	G310V	probably damaging	Het
Med1	T	C	11: 98,046,186 (GRCm39)		probably benign	Het
Mepce	C	A	5: 137,783,544 (GRCm39)		probably benign	Het
Nckipsd	T	A	9: 108,691,114 (GRCm39)		probably benign	Het
Notch3	T	A	17: 32,366,937 (GRCm39)	Q866L	probably benign	Het
Or52b4	A	T	7: 102,183,962 (GRCm39)	T3S	probably benign	Het
Or5l14	A	T	2: 87,793,040 (GRCm39)	H65Q	possibly damaging	Het
Or8k20	A	T	2: 86,106,107 (GRCm39)	C241*	probably null	Het
Orai1	T	C	5: 123,149,894 (GRCm39)		probably benign	Het
Pate12	G	A	9: 36,344,089 (GRCm39)	C24Y	probably damaging	Het
Pcdhb8	A	T	18: 37,489,219 (GRCm39)	E299V	probably damaging	Het
Pcnx4	G	A	12: 72,613,959 (GRCm39)	D635N	probably damaging	Het
Pex5	T	C	6: 124,375,322 (GRCm39)	I567V	probably benign	Het
Ppfibp2	T	C	7: 107,328,390 (GRCm39)	S485P	probably benign	Het
Sbno1	T	C	5: 124,542,087 (GRCm39)	Y356C	probably damaging	Het
Sdcbp	T	C	4: 6,381,056 (GRCm39)	I67T	possibly damaging	Het
Slc66a1	A	T	4: 139,029,095 (GRCm39)		probably null	Het
Smad4	A	G	18: 73,774,974 (GRCm39)	C442R	probably damaging	Het
Smpd5	A	G	15: 76,179,070 (GRCm39)	H146R	possibly damaging	Het
Snai2	A	G	16: 14,524,605 (GRCm39)	Y37C	probably benign	Het
Snapc4	C	T	2: 26,256,004 (GRCm39)	S840N	possibly damaging	Het
Stpg2	T	C	3: 138,921,134 (GRCm39)	I113T	probably benign	Het
Tbc1d32	T	C	10: 55,925,125 (GRCm39)		probably null	Het
Tfg	A	T	16: 56,521,520 (GRCm39)	S39R	probably damaging	Het
Thsd7b	T	A	1: 130,116,236 (GRCm39)	S1330T	possibly damaging	Het
Tnfaip3	T	C	10: 18,881,321 (GRCm39)	T322A	probably benign	Het
Tpra1	A	G	6: 88,888,691 (GRCm39)	Y291C	probably damaging	Het
Trcg1	A	G	9: 57,154,003 (GRCm39)	D658G	probably damaging	Het
Trip4	C	T	9: 65,782,304 (GRCm39)	V143I	probably benign	Het
Trp53bp1	T	C	2: 121,033,084 (GRCm39)	K1691E	probably damaging	Het
Ttc8	T	A	12: 98,908,562 (GRCm39)	M77K	possibly damaging	Het
Tubb2a	A	T	13: 34,258,572 (GRCm39)	M406K	probably benign	Het
Txnrd1	T	A	10: 82,717,751 (GRCm39)		probably null	Het
Ugt2a3	C	A	5: 87,479,144 (GRCm39)	R268L	probably benign	Het
Usp34	T	G	11: 23,323,410 (GRCm39)	M982R	possibly damaging	Het
Vmn2r43	T	A	7: 8,258,102 (GRCm39)	K370N	probably benign	Het
Vopp1	A	T	6: 57,739,355 (GRCm39)		probably benign	Het
Vps11	A	C	9: 44,264,597 (GRCm39)	C660G	probably benign	Het
Wnk1	T	C	6: 119,926,338 (GRCm39)	H1137R	probably damaging	Het
Wtap	A	G	17: 13,188,322 (GRCm39)	Y193H	probably damaging	Het
Zfp462	T	A	4: 55,009,444 (GRCm39)	V470D	probably benign	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
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'- ACAGCAATGCCCTCTTCTG -3'
(R):5'- GCCATATCTATACTTGCAGCCC -3'

Sequencing Primer
(F):5'- GCAATGCCCTCTTCTGTATATTTTAG -3'
(R):5'- ACCCTGGTTATTACTCTGACAAG -3'

Posted On

2016-03-17