Incidental Mutation 'R0288:Slc5a7'
ID 24755
Institutional Source Beutler Lab
Gene Symbol Slc5a7
Ensembl Gene ENSMUSG00000023945
Gene Name solute carrier family 5 (choline transporter), member 7
Synonyms CHT1
MMRRC Submission 038507-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0288 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 54580618-54606062 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 54600046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 122 (Y122*)
Ref Sequence ENSEMBL: ENSMUSP00000093379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095712]
AlphaFold Q8BGY9
Predicted Effect probably null
Transcript: ENSMUST00000095712
AA Change: Y122*
SMART Domains Protein: ENSMUSP00000093379
Gene: ENSMUSG00000023945
AA Change: Y122*

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:SSF 42 442 4.7e-36 PFAM
Meta Mutation Damage Score 0.9754 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.1%
  • 20x: 89.7%
Validation Efficiency 98% (62/63)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 A G 8: 95,766,568 (GRCm39) E413G possibly damaging Het
Amigo2 G T 15: 97,143,560 (GRCm39) N287K probably damaging Het
Ankle2 T A 5: 110,384,256 (GRCm39) I260K probably damaging Het
Apob C T 12: 8,040,779 (GRCm39) R635* probably null Het
Camkv A G 9: 107,823,555 (GRCm39) Y153C probably damaging Het
Capn9 A G 8: 125,327,230 (GRCm39) probably benign Het
Ces2c A G 8: 105,576,376 (GRCm39) I130V probably benign Het
Cfap44 T A 16: 44,236,257 (GRCm39) probably benign Het
Cfhr3 A G 1: 139,525,425 (GRCm39) noncoding transcript Het
Chmp1a G T 8: 123,934,745 (GRCm39) D70E probably damaging Het
Coil G A 11: 88,872,694 (GRCm39) G352R probably damaging Het
Colq T C 14: 31,265,949 (GRCm39) E188G possibly damaging Het
Cyfip2 A G 11: 46,144,799 (GRCm39) F685S possibly damaging Het
Cyp4f39 A G 17: 32,711,410 (GRCm39) N519S probably benign Het
Dennd1c A T 17: 57,383,870 (GRCm39) probably null Het
Dnah9 A T 11: 65,915,960 (GRCm39) probably null Het
Dnmbp T C 19: 43,890,898 (GRCm39) T290A possibly damaging Het
Dsc2 T C 18: 20,166,177 (GRCm39) D818G probably damaging Het
Gnptab G A 10: 88,268,967 (GRCm39) V557I probably benign Het
Hdac4 A T 1: 91,898,728 (GRCm39) H675Q probably damaging Het
Kcnk3 T C 5: 30,745,764 (GRCm39) M35T probably benign Het
Kif1b A T 4: 149,283,795 (GRCm39) I1290N probably damaging Het
Klhl14 G A 18: 21,698,620 (GRCm39) R398W probably damaging Het
Marveld1 T C 19: 42,136,265 (GRCm39) F60L probably damaging Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Ndst3 A T 3: 123,465,843 (GRCm39) V43D probably benign Het
Nhsl1 A G 10: 18,399,794 (GRCm39) D306G probably damaging Het
Nlrp2 A G 7: 5,331,544 (GRCm39) V284A probably benign Het
Pcdhb15 T C 18: 37,608,451 (GRCm39) V561A probably damaging Het
Pdcl2 T C 5: 76,460,344 (GRCm39) I177V possibly damaging Het
Pkd1l3 G A 8: 110,373,131 (GRCm39) probably null Het
Pla2g6 A C 15: 79,171,106 (GRCm39) probably benign Het
Plekhj1 A T 10: 80,632,444 (GRCm39) I122N probably damaging Het
Pmel T C 10: 128,550,175 (GRCm39) I70T probably benign Het
Psip1 T C 4: 83,383,196 (GRCm39) D273G probably damaging Het
Rictor A G 15: 6,816,021 (GRCm39) I1098V probably benign Het
Rif1 T C 2: 52,000,025 (GRCm39) S1160P probably damaging Het
Rsbn1l T C 5: 21,125,038 (GRCm39) I255V probably damaging Het
Slc15a5 A G 6: 137,994,914 (GRCm39) probably benign Het
Slc29a1 G A 17: 45,900,730 (GRCm39) R111W probably damaging Het
Slc36a1 G A 11: 55,109,913 (GRCm39) A74T probably damaging Het
Slc6a3 G T 13: 73,709,047 (GRCm39) G324W probably damaging Het
Sltm T C 9: 70,486,633 (GRCm39) S433P probably damaging Het
Spta1 T C 1: 174,070,745 (GRCm39) S2190P probably damaging Het
Sry A T Y: 2,662,818 (GRCm39) F281I unknown Het
Stk32a T A 18: 43,438,060 (GRCm39) probably null Het
Sytl2 T C 7: 90,052,228 (GRCm39) probably benign Het
Tbl3 G A 17: 24,920,781 (GRCm39) H612Y probably damaging Het
Tmem144 G A 3: 79,746,580 (GRCm39) probably benign Het
Top2a A G 11: 98,907,249 (GRCm39) probably benign Het
Usp9y A T Y: 1,333,606 (GRCm39) probably benign Het
Vldlr G A 19: 27,218,051 (GRCm39) probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vmn2r28 A G 7: 5,491,020 (GRCm39) L409P probably damaging Het
Vps13c T C 9: 67,834,648 (GRCm39) V1659A probably damaging Het
Wdr17 C T 8: 55,146,131 (GRCm39) A90T possibly damaging Het
Zfp280d A T 9: 72,238,621 (GRCm39) K646* probably null Het
Zfp36 A G 7: 28,077,666 (GRCm39) S81P probably benign Het
Zfp618 A T 4: 63,051,171 (GRCm39) T651S possibly damaging Het
Other mutations in Slc5a7
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- ATGGCTCAGGGCACAGTTTTAAAGAT -3'
(R):5'- CTCACTTATGTCATGAAGTTGCCCAGT -3'

Sequencing Primer
(F):5'- GAGAAAATTGCTGCAGCCCA -3'
(R):5'- TAGACATGTAAGACATGCTCCTCAG -3'
Posted On 2013-04-16