Incidental Mutation 'R6643:Slc5a7'
ID 525963
Institutional Source Beutler Lab
Gene Symbol Slc5a7
Ensembl Gene ENSMUSG00000023945
Gene Name solute carrier family 5 (choline transporter), member 7
Synonyms CHT1
MMRRC Submission 044764-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6643 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 54580618-54606062 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 54583644 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 549 (Q549K)
Ref Sequence ENSEMBL: ENSMUSP00000093379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095712]
AlphaFold Q8BGY9
Predicted Effect probably benign
Transcript: ENSMUST00000095712
AA Change: Q549K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000093379
Gene: ENSMUSG00000023945
AA Change: Q549K

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:SSF 42 442 4.7e-36 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 100% (39/39)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,183,644 (GRCm39) S140P probably damaging Het
Atp5mc1 A C 11: 95,964,854 (GRCm39) C17W probably damaging Het
Brd4 A G 17: 32,417,470 (GRCm39) S161P unknown Het
Cntrob A G 11: 69,202,248 (GRCm39) V448A possibly damaging Het
Col22a1 T C 15: 71,693,886 (GRCm39) probably null Het
Col6a4 T C 9: 105,877,830 (GRCm39) Y2049C probably damaging Het
Cpn1 C T 19: 43,948,472 (GRCm39) D395N probably benign Het
Csmd2 A G 4: 128,266,390 (GRCm39) T769A probably benign Het
Cts6 T A 13: 61,349,607 (GRCm39) H62L probably damaging Het
Ddx42 G T 11: 106,119,646 (GRCm39) V144F probably benign Het
E130308A19Rik A G 4: 59,720,561 (GRCm39) S698G possibly damaging Het
Eif2b3 T C 4: 116,927,954 (GRCm39) L391P probably damaging Het
Gm1043 T C 5: 37,330,895 (GRCm39) I525T probably benign Het
Kifc1 C T 17: 34,104,829 (GRCm39) G59S probably benign Het
Lancl1 T C 1: 67,043,542 (GRCm39) E360G probably benign Het
Lrp4 T C 2: 91,332,340 (GRCm39) L1679S probably benign Het
Mroh9 T A 1: 162,903,130 (GRCm39) D91V probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Ntsr1 T C 2: 180,142,719 (GRCm39) I170T probably damaging Het
Or2ag15 T A 7: 106,340,911 (GRCm39) I77F probably benign Het
Or2ag16 A G 7: 106,351,776 (GRCm39) I273T probably benign Het
Or6n2 T C 1: 173,897,611 (GRCm39) L249P probably damaging Het
Or6z5 G A 7: 6,477,720 (GRCm39) D204N probably benign Het
Pcolce T A 5: 137,607,165 (GRCm39) T109S probably damaging Het
Reg3b C A 6: 78,349,905 (GRCm39) S148R possibly damaging Het
Rps6ka4 A G 19: 6,809,731 (GRCm39) S365P probably damaging Het
Slc27a4 A G 2: 29,702,860 (GRCm39) E563G probably benign Het
Slc4a10 C T 2: 62,059,054 (GRCm39) T187M possibly damaging Het
Stxbp3 A G 3: 108,701,150 (GRCm39) L573P probably damaging Het
Suco A T 1: 161,687,001 (GRCm39) S120T possibly damaging Het
Tnni2 G T 7: 141,998,016 (GRCm39) G163V probably damaging Het
Ttl T C 2: 128,923,262 (GRCm39) I201T possibly damaging Het
Vmn1r28 A G 6: 58,242,945 (GRCm39) T263A probably benign Het
Wdr1 A T 5: 38,697,521 (GRCm39) D262E probably damaging Het
Xylb A G 9: 119,196,559 (GRCm39) H114R probably damaging Het
Ywhaz T C 15: 36,791,166 (GRCm39) Y19C probably damaging Het
Zdbf2 A G 1: 63,343,667 (GRCm39) E682G 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
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
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'- CATGTGTAAGATATGCTCCAAGC -3'
(R):5'- TCAGAGGTTCCCATTTAAAACTCTC -3'

Sequencing Primer
(F):5'- GTGTAAGATATGCTCCAAGCCTTTC -3'
(R):5'- ATTTAAAACTCTCTCCATGGTTACC -3'
Posted On 2018-06-22