Incidental Mutation 'R7470:Slc5a7'
ID 579155
Institutional Source Beutler Lab
Gene Symbol Slc5a7
Ensembl Gene ENSMUSG00000023945
Gene Name solute carrier family 5 (choline transporter), member 7
Synonyms CHT1
MMRRC Submission 045544-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7470 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 54580618-54606062 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 54583990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 433 (Y433*)
Ref Sequence ENSEMBL: ENSMUSP00000093379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095712]
AlphaFold Q8BGY9
Predicted Effect probably null
Transcript: ENSMUST00000095712
AA Change: Y433*
SMART Domains Protein: ENSMUSP00000093379
Gene: ENSMUSG00000023945
AA Change: Y433*

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:SSF 42 442 4.7e-36 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik A T 9: 55,898,622 (GRCm39) V238E possibly damaging Het
Actn3 G A 19: 4,917,842 (GRCm39) S375L possibly damaging Het
Adgrg6 T C 10: 14,319,810 (GRCm39) T476A probably benign Het
Afm T A 5: 90,679,486 (GRCm39) S327T probably damaging Het
Apol7e T A 15: 77,602,143 (GRCm39) M247K probably benign Het
Aqp12 T A 1: 92,936,385 (GRCm39) L237Q probably damaging Het
Arhgef12 A T 9: 42,951,848 (GRCm39) S63T probably damaging Het
Axdnd1 T A 1: 156,204,086 (GRCm39) E393V Het
Cacna1g T A 11: 94,352,765 (GRCm39) D365V possibly damaging Het
Ccdc3 T A 2: 5,143,115 (GRCm39) V124E possibly damaging Het
Ccr7 C T 11: 99,036,383 (GRCm39) V180M possibly damaging Het
Cd47 T A 16: 49,704,585 (GRCm39) I119K Het
Cenpe A T 3: 134,947,916 (GRCm39) L1158F probably damaging Het
Cfi A G 3: 129,648,736 (GRCm39) R207G probably benign Het
Cyp2j6 T C 4: 96,423,708 (GRCm39) Y220C probably benign Het
Ddhd2 A G 8: 26,225,087 (GRCm39) F577L probably benign Het
Dhx40 T C 11: 86,667,528 (GRCm39) E537G probably damaging Het
Disp3 A T 4: 148,345,527 (GRCm39) C438S possibly damaging Het
Dock3 A G 9: 106,882,644 (GRCm39) S380P probably damaging Het
Ehmt2 A G 17: 35,118,372 (GRCm39) E106G possibly damaging Het
Fmnl2 A T 2: 52,932,377 (GRCm39) I119F probably damaging Het
Gm11554 A C 11: 99,695,190 (GRCm39) S8A unknown Het
Grm7 A G 6: 111,478,476 (GRCm39) I54V Het
Hbs1l T C 10: 21,234,683 (GRCm39) F579L possibly damaging Het
Hgf C A 5: 16,823,854 (GRCm39) Q684K probably benign Het
Igsf3 T C 3: 101,358,391 (GRCm39) Y741H possibly damaging Het
Il17rb C A 14: 29,719,990 (GRCm39) G304W probably damaging Het
Ino80c C T 18: 24,241,895 (GRCm39) W163* probably null Het
Kcnt1 A C 2: 25,799,845 (GRCm39) D997A probably damaging Het
Klf7 C T 1: 64,081,472 (GRCm39) probably null Het
Lingo1 T C 9: 56,527,908 (GRCm39) Y233C probably damaging Het
Lmo7 C A 14: 102,138,040 (GRCm39) T914K possibly damaging Het
Mark1 G T 1: 184,660,241 (GRCm39) Y138* probably null Het
Mcm3ap C A 10: 76,344,231 (GRCm39) T1791K probably damaging Het
Mcts2 T C 2: 152,529,582 (GRCm39) I131T probably benign Het
Mipep A G 14: 61,040,344 (GRCm39) D288G probably benign Het
Ms4a8a T A 19: 11,053,714 (GRCm39) N131Y possibly damaging Het
Nalcn T C 14: 123,809,456 (GRCm39) E232G probably benign Het
Nat10 C T 2: 103,565,226 (GRCm39) A452T probably benign Het
Nfatc2 G A 2: 168,365,227 (GRCm39) Q596* probably null Het
Nudt13 G T 14: 20,359,791 (GRCm39) G173W probably damaging Het
Or10n1 C A 9: 39,524,998 (GRCm39) T45K probably benign Het
Or1e16 T A 11: 73,286,714 (GRCm39) I45F probably damaging Het
Or5l14 A T 2: 87,792,793 (GRCm39) C148S possibly damaging Het
Or8b4 T A 9: 37,830,592 (GRCm39) I213N probably damaging Het
Otud4 T C 8: 80,399,989 (GRCm39) V901A probably benign Het
Pah G A 10: 87,399,286 (GRCm39) R155Q probably damaging Het
Pkd1l3 A G 8: 110,365,008 (GRCm39) H1130R probably benign Het
Pnliprp1 A G 19: 58,720,457 (GRCm39) N111S possibly damaging Het
Ppp1r21 T C 17: 88,869,649 (GRCm39) Y401H probably damaging Het
Prr14 A G 7: 127,074,997 (GRCm39) K466R probably null Het
Ralgapa2 A G 2: 146,266,587 (GRCm39) L663P probably damaging Het
Reg3d A T 6: 78,353,071 (GRCm39) C171S possibly damaging Het
Reln G T 5: 22,147,739 (GRCm39) L2404I probably damaging Het
Rnasel A C 1: 153,629,777 (GRCm39) I98L probably benign Het
Rnf216 T C 5: 142,978,480 (GRCm39) D886G possibly damaging Het
Rp1l1 A G 14: 64,266,015 (GRCm39) R534G probably benign Het
Selenon A C 4: 134,267,061 (GRCm39) S514A probably benign Het
Sema3d T A 5: 12,558,152 (GRCm39) I228N probably damaging Het
Serpinb9g T A 13: 33,670,617 (GRCm39) I35N probably damaging Het
Siglec1 A C 2: 130,917,744 (GRCm39) H1044Q probably benign Het
Skint5 T A 4: 113,614,128 (GRCm39) I693F unknown Het
Skint5 G T 4: 113,743,000 (GRCm39) L370M unknown Het
Slc12a1 G A 2: 125,059,815 (GRCm39) W905* probably null Het
Slc26a9 G C 1: 131,691,781 (GRCm39) V675L probably benign Het
Slc7a4 A G 16: 17,392,977 (GRCm39) I274T probably benign Het
Slmap A G 14: 26,148,575 (GRCm39) V612A probably benign Het
Spen T C 4: 141,206,605 (GRCm39) D674G unknown Het
Ssh1 T C 5: 114,080,488 (GRCm39) T981A possibly damaging Het
Sycp2l T C 13: 41,316,580 (GRCm39) S180P probably benign Het
Tdrd7 C A 4: 45,990,144 (GRCm39) S181R probably benign Het
Thada T C 17: 84,533,469 (GRCm39) N1661D probably benign Het
Tsga13 C A 6: 30,876,981 (GRCm39) D179Y possibly damaging Het
Ttf2 T G 3: 100,870,478 (GRCm39) Q198H possibly damaging Het
Ugt2b37 T G 5: 87,401,971 (GRCm39) Y220S probably benign Het
Unc79 C T 12: 103,061,235 (GRCm39) T1145I probably damaging Het
Unc80 T A 1: 66,661,621 (GRCm39) M1682K probably benign Het
Vcp A G 4: 42,982,891 (GRCm39) S652P probably damaging Het
Vmn2r-ps158 T A 7: 42,697,310 (GRCm39) M789K probably damaging Het
Wrnip1 T A 13: 33,000,310 (GRCm39) L439* probably null Het
Zfhx2 A G 14: 55,304,207 (GRCm39) I1259T possibly damaging Het
Zfp369 A T 13: 65,439,960 (GRCm39) T215S probably benign Het
Zfp64 A T 2: 168,767,731 (GRCm39) V627E probably damaging Het
Zfp873 T C 10: 81,895,773 (GRCm39) I168T probably benign 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
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
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'- AATTTTGGAGGCAAGGTTCCAC -3'
(R):5'- CAAGGAAATTGTGTGGGTCATG -3'

Sequencing Primer
(F):5'- GAGGCAAGGTTCCACTTTCAAATAG -3'
(R):5'- GGTCATGAGGATCACTGTGC -3'
Posted On 2019-10-07