Incidental Mutation 'IGL01608:Slc6a4'
ID91855
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc6a4
Ensembl Gene ENSMUSG00000020838
Gene Namesolute carrier family 6 (neurotransmitter transporter, serotonin), member 4
Synonyms5-HTT, Sert, Htt
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.271) question?
Stock #IGL01608
Quality Score
Status
Chromosome11
Chromosomal Location76998603-77032340 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 77027135 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 568 (Y568N)
Ref Sequence ENSEMBL: ENSMUSP00000104039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021195] [ENSMUST00000108402]
Predicted Effect probably damaging
Transcript: ENSMUST00000021195
AA Change: Y568N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021195
Gene: ENSMUSG00000020838
AA Change: Y568N

DomainStartEndE-ValueType
Pfam:5HT_transport_N 24 64 3e-27 PFAM
Pfam:SNF 79 600 7.3e-232 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108402
AA Change: Y568N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104039
Gene: ENSMUSG00000020838
AA Change: Y568N

DomainStartEndE-ValueType
Pfam:5HT_transporter 23 64 7.8e-30 PFAM
Pfam:SNF 79 600 7.3e-232 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137819
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 an integral membrane protein that transports the neurotransmitter serotonin from synaptic spaces into presynaptic neurons. The encoded protein terminates the action of serotonin and recycles it in a sodium-dependent manner. This protein is a target of psychomotor stimulants, such as amphetamines and cocaine, and is a member of the sodium:neurotransmitter symporter family. A repeat length polymorphism in the promoter of this gene has been shown to affect the rate of serotonin uptake and may play a role in sudden infant death syndrome, aggressive behavior in Alzheimer disease patients, and depression-susceptibility in people experiencing emotional trauma. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit greatly diminished brain serotonin levels and lack cortical barrel patterns. Also, mutants lack the locomotor enhancing response to the drug (+)-3,4-methylenedioxymethamphetamine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732456N10Rik A G 15: 101,562,629 I66T probably benign Het
Abca1 A T 4: 53,038,158 L2068Q probably damaging Het
Abca12 G T 1: 71,259,442 D2340E probably damaging Het
Adcy5 A G 16: 35,272,165 Y632C probably damaging Het
Adgrb3 A G 1: 25,553,774 S311P probably damaging Het
Adh4 C T 3: 138,429,027 probably benign Het
AF529169 T C 9: 89,596,498 T832A probably benign Het
Atf2 G T 2: 73,819,078 H396Q probably damaging Het
Atp8a1 G A 5: 67,813,136 R74* probably null Het
Brpf3 T C 17: 28,821,517 S971P probably benign Het
Btn1a1 T C 13: 23,461,608 E197G probably benign Het
Ccdc136 C T 6: 29,406,114 A87V possibly damaging Het
Celf4 A G 18: 25,497,503 L376P probably damaging Het
Chrm3 G A 13: 9,878,598 A134V possibly damaging Het
Col19a1 G A 1: 24,282,545 R961C probably damaging Het
Cr2 A G 1: 195,155,220 V1190A possibly damaging Het
Dopey1 T A 9: 86,507,561 S515T probably benign Het
Eprs T A 1: 185,385,114 probably benign Het
Fbn2 G T 18: 58,053,704 Y1708* probably null Het
Glt1d1 A G 5: 127,664,682 N148S possibly damaging Het
Gm20425 T A 9: 103,191,094 I44F probably damaging Het
Gpr22 T A 12: 31,708,780 K411* probably null Het
Ipo11 A G 13: 106,834,494 probably benign Het
Klri1 T A 6: 129,698,167 N210I possibly damaging Het
Kmt2c C T 5: 25,354,811 V950M probably damaging Het
Knop1 T C 7: 118,845,796 K315R probably benign Het
Lrrc32 T A 7: 98,499,357 V448D probably benign Het
Met T C 6: 17,558,730 V1119A probably damaging Het
Mipep T A 14: 60,802,230 I236N possibly damaging Het
Mrpl45 A G 11: 97,316,921 T81A probably benign Het
Mtbp G T 15: 55,557,689 E24* probably null Het
Muc5b C T 7: 141,846,437 T476I unknown Het
Mup6 C T 4: 60,006,021 T163I probably benign Het
Myo1g T A 11: 6,516,780 I278F possibly damaging Het
Myo9a A T 9: 59,870,836 K1292* probably null Het
Nbeal1 T A 1: 60,242,535 probably benign Het
Nck1 C A 9: 100,497,387 R270S probably benign Het
Neb T C 2: 52,170,536 E6035G probably damaging Het
Nlrp4f A C 13: 65,195,543 L96* probably null Het
Olfr1250 A T 2: 89,656,491 probably benign Het
Olfr141 A C 2: 86,806,425 Y191* probably null Het
Olfr606 A T 7: 103,451,804 I156F probably benign Het
Olfr738 A T 14: 50,414,453 H303L probably benign Het
Padi2 A G 4: 140,932,230 E282G probably damaging Het
Pcdhb4 A G 18: 37,308,750 D371G probably damaging Het
Pcdhb8 A G 18: 37,356,925 D552G probably damaging Het
Peli3 A G 19: 4,932,827 I270T probably damaging Het
Phf20 A G 2: 156,276,596 M407V probably benign Het
Ppm1h C T 10: 122,941,280 R103* probably null Het
Rangap1 C T 15: 81,709,504 V457M probably benign Het
Scube2 A G 7: 109,843,254 V257A probably benign Het
Shc1 C A 3: 89,424,849 Q204K probably damaging Het
Srgap3 A G 6: 112,946,478 F7L probably benign Het
St6galnac4 T A 2: 32,594,086 C99S probably damaging Het
Strc T C 2: 121,375,594 D779G probably benign Het
Supt6 A T 11: 78,225,483 Y685N probably damaging Het
Traf3ip3 T C 1: 193,187,110 T256A probably benign Het
Vmn1r74 A T 7: 11,847,633 I287F probably damaging Het
Zmym2 C A 14: 56,948,015 Q1035K possibly damaging Het
Zswim3 G A 2: 164,821,520 R640H probably damaging Het
Other mutations in Slc6a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00900:Slc6a4 APN 11 77023180 missense probably benign 0.00
IGL01403:Slc6a4 APN 11 77031672 missense probably benign 0.00
IGL01759:Slc6a4 APN 11 77013288 missense probably damaging 1.00
IGL02239:Slc6a4 APN 11 77027156 missense probably benign 0.01
IGL02491:Slc6a4 APN 11 77027208 missense probably damaging 1.00
IGL03221:Slc6a4 APN 11 77027105 missense probably benign
R1122:Slc6a4 UTSW 11 77027186 missense possibly damaging 0.90
R1574:Slc6a4 UTSW 11 77019196 missense possibly damaging 0.93
R1574:Slc6a4 UTSW 11 77019196 missense possibly damaging 0.93
R1768:Slc6a4 UTSW 11 77013252 missense probably damaging 1.00
R1876:Slc6a4 UTSW 11 77015164 missense probably benign 0.34
R1884:Slc6a4 UTSW 11 77013375 missense probably benign 0.01
R4362:Slc6a4 UTSW 11 77017078 missense probably damaging 1.00
R4595:Slc6a4 UTSW 11 77019863 missense probably benign 0.16
R4855:Slc6a4 UTSW 11 77013309 missense probably damaging 1.00
R5569:Slc6a4 UTSW 11 77023255 missense possibly damaging 0.88
R5747:Slc6a4 UTSW 11 77010511 missense probably damaging 0.97
R5802:Slc6a4 UTSW 11 77019236 missense probably damaging 1.00
R6242:Slc6a4 UTSW 11 77018358 nonsense probably null
R6344:Slc6a4 UTSW 11 77018254 missense probably damaging 1.00
R6443:Slc6a4 UTSW 11 77023201 missense probably benign 0.05
R6935:Slc6a4 UTSW 11 77027168 missense probably benign 0.06
R7283:Slc6a4 UTSW 11 77010696 missense probably benign
R7313:Slc6a4 UTSW 11 77010701 missense possibly damaging 0.75
R7347:Slc6a4 UTSW 11 77017085 nonsense probably null
R7535:Slc6a4 UTSW 11 77015150 missense possibly damaging 0.70
R7826:Slc6a4 UTSW 11 77013025 missense probably benign 0.27
R8055:Slc6a4 UTSW 11 77010598 missense probably benign 0.00
RF007:Slc6a4 UTSW 11 77019182 missense probably damaging 1.00
Z1177:Slc6a4 UTSW 11 77016683 frame shift probably null
Posted On2013-12-09