Incidental Mutation 'R7735:Slc6a5'
ID |
596194 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc6a5
|
Ensembl Gene |
ENSMUSG00000039728 |
Gene Name |
solute carrier family 6 (neurotransmitter transporter, glycine), member 5 |
Synonyms |
Glyt2 |
MMRRC Submission |
045791-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7735 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
49559894-49613604 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 49598090 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058699
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056442]
[ENSMUST00000107605]
[ENSMUST00000207753]
[ENSMUST00000209172]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000056442
|
SMART Domains |
Protein: ENSMUSP00000058699 Gene: ENSMUSG00000039728
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107605
|
SMART Domains |
Protein: ENSMUSP00000103230 Gene: ENSMUSG00000039728
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000207753
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209172
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (58/58) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016] PHENOTYPE: Homozygous mutant mice appear normal at birth but develop a complex neuromotor phenotype involving tremors, rigidity, and an impaired righting ability. Mutant mice die approximately 2 weeks after birth. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
T |
C |
15: 64,655,629 (GRCm39) |
T617A |
probably benign |
Het |
Agl |
A |
T |
3: 116,578,795 (GRCm39) |
I446N |
probably benign |
Het |
Aox1 |
C |
T |
1: 58,107,451 (GRCm39) |
P575L |
probably benign |
Het |
Ap2m1 |
A |
T |
16: 20,358,269 (GRCm39) |
I96F |
probably benign |
Het |
Arhgap15 |
A |
G |
2: 44,006,642 (GRCm39) |
D253G |
probably damaging |
Het |
Arsa |
A |
T |
15: 89,359,152 (GRCm39) |
C171* |
probably null |
Het |
Arsb |
G |
T |
13: 93,908,491 (GRCm39) |
R69L |
probably benign |
Het |
Asb13 |
G |
A |
13: 3,684,180 (GRCm39) |
|
probably null |
Het |
Canx |
G |
T |
11: 50,191,866 (GRCm39) |
D348E |
probably damaging |
Het |
Cebpz |
C |
T |
17: 79,233,342 (GRCm39) |
|
probably null |
Het |
Ces2h |
A |
T |
8: 105,741,127 (GRCm39) |
I40L |
probably benign |
Het |
Cfhr4 |
A |
G |
1: 139,660,039 (GRCm39) |
|
probably null |
Het |
Csmd2 |
T |
C |
4: 128,350,723 (GRCm39) |
|
probably null |
Het |
Cxadr |
T |
A |
16: 78,125,949 (GRCm39) |
N106K |
possibly damaging |
Het |
Ddo |
T |
C |
10: 40,507,770 (GRCm39) |
C56R |
probably benign |
Het |
Dnah6 |
C |
T |
6: 73,046,412 (GRCm39) |
G3192D |
probably damaging |
Het |
Efcab3 |
T |
A |
11: 104,962,465 (GRCm39) |
V49E |
probably benign |
Het |
Epha10 |
T |
C |
4: 124,807,472 (GRCm39) |
Y578H |
|
Het |
Fbxw16 |
T |
C |
9: 109,270,135 (GRCm39) |
D202G |
probably damaging |
Het |
Gzf1 |
T |
C |
2: 148,530,083 (GRCm39) |
V538A |
possibly damaging |
Het |
Igha |
T |
A |
12: 113,220,019 (GRCm39) |
|
probably benign |
Het |
Iqce |
G |
T |
5: 140,663,839 (GRCm39) |
Q457K |
probably benign |
Het |
Kbtbd3 |
A |
G |
9: 4,330,846 (GRCm39) |
K407E |
possibly damaging |
Het |
Lipt1 |
A |
G |
1: 37,914,703 (GRCm39) |
E253G |
probably damaging |
Het |
Mrnip |
G |
A |
11: 50,087,800 (GRCm39) |
W107* |
probably null |
Het |
Mroh4 |
T |
C |
15: 74,497,357 (GRCm39) |
T224A |
probably damaging |
Het |
Ncoa2 |
A |
T |
1: 13,218,661 (GRCm39) |
S1389R |
probably benign |
Het |
Npffr2 |
A |
G |
5: 89,731,173 (GRCm39) |
I368V |
probably benign |
Het |
Nrdc |
C |
T |
4: 108,895,182 (GRCm39) |
L469F |
probably damaging |
Het |
Nup210l |
A |
T |
3: 90,092,883 (GRCm39) |
Q1279L |
probably damaging |
Het |
Or4k47 |
T |
A |
2: 111,451,819 (GRCm39) |
N200I |
probably damaging |
Het |
Or7e170 |
A |
G |
9: 19,795,410 (GRCm39) |
Y64H |
probably damaging |
Het |
Pcdha4 |
T |
G |
18: 37,085,961 (GRCm39) |
I48S |
probably damaging |
Het |
Pip5kl1 |
A |
G |
2: 32,469,101 (GRCm39) |
Y211C |
possibly damaging |
Het |
Prrt4 |
A |
T |
6: 29,170,035 (GRCm39) |
S806T |
possibly damaging |
Het |
Ptpn20 |
T |
A |
14: 33,352,902 (GRCm39) |
Y214N |
probably damaging |
Het |
Ptprt |
A |
T |
2: 161,417,661 (GRCm39) |
N938K |
probably damaging |
Het |
Scn2a |
G |
T |
2: 65,594,013 (GRCm39) |
V1621L |
probably benign |
Het |
Senp3 |
A |
G |
11: 69,569,087 (GRCm39) |
I358T |
probably damaging |
Het |
Sf3b1 |
A |
T |
1: 55,042,508 (GRCm39) |
S461T |
probably benign |
Het |
Slc22a2 |
C |
T |
17: 12,828,917 (GRCm39) |
T341I |
probably damaging |
Het |
Slc38a7 |
A |
T |
8: 96,568,295 (GRCm39) |
D363E |
probably benign |
Het |
Smo |
T |
A |
6: 29,759,851 (GRCm39) |
V650E |
probably damaging |
Het |
Spata17 |
G |
A |
1: 186,872,577 (GRCm39) |
T31I |
unknown |
Het |
Sstr2 |
T |
A |
11: 113,515,423 (GRCm39) |
I114N |
possibly damaging |
Het |
Styxl1 |
T |
C |
5: 135,788,023 (GRCm39) |
Y146C |
probably damaging |
Het |
Synpo2l |
T |
C |
14: 20,711,243 (GRCm39) |
Q688R |
possibly damaging |
Het |
Tmem245 |
C |
T |
4: 56,925,155 (GRCm39) |
R322H |
probably benign |
Het |
Tnxb |
A |
G |
17: 34,890,398 (GRCm39) |
E247G |
unknown |
Het |
Ttc28 |
A |
T |
5: 111,414,544 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
T |
2: 76,718,416 (GRCm39) |
I7255N |
unknown |
Het |
Ttn |
C |
A |
2: 76,652,768 (GRCm39) |
|
probably null |
Het |
Unc13b |
C |
T |
4: 43,165,791 (GRCm39) |
R204C |
probably damaging |
Het |
Utrn |
A |
G |
10: 12,619,787 (GRCm39) |
|
probably null |
Het |
Vps53 |
A |
T |
11: 75,937,962 (GRCm39) |
F753I |
probably damaging |
Het |
Ypel1 |
G |
T |
16: 16,918,124 (GRCm39) |
S97R |
probably benign |
Het |
Zdbf2 |
A |
G |
1: 63,343,264 (GRCm39) |
T548A |
possibly damaging |
Het |
Zfp747 |
G |
A |
7: 126,973,672 (GRCm39) |
T166M |
probably damaging |
Het |
|
Other mutations in Slc6a5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01373:Slc6a5
|
APN |
7 |
49,567,481 (GRCm39) |
missense |
probably benign |
0.35 |
IGL01821:Slc6a5
|
APN |
7 |
49,564,601 (GRCm39) |
intron |
probably benign |
|
R0084:Slc6a5
|
UTSW |
7 |
49,579,761 (GRCm39) |
missense |
probably benign |
0.01 |
R0266:Slc6a5
|
UTSW |
7 |
49,588,156 (GRCm39) |
splice site |
probably benign |
|
R0411:Slc6a5
|
UTSW |
7 |
49,561,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R0621:Slc6a5
|
UTSW |
7 |
49,567,113 (GRCm39) |
splice site |
probably null |
|
R1649:Slc6a5
|
UTSW |
7 |
49,586,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R1822:Slc6a5
|
UTSW |
7 |
49,606,173 (GRCm39) |
missense |
probably benign |
0.00 |
R1889:Slc6a5
|
UTSW |
7 |
49,601,182 (GRCm39) |
missense |
probably benign |
0.03 |
R2084:Slc6a5
|
UTSW |
7 |
49,598,002 (GRCm39) |
missense |
probably benign |
0.14 |
R2098:Slc6a5
|
UTSW |
7 |
49,595,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R2365:Slc6a5
|
UTSW |
7 |
49,596,284 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2516:Slc6a5
|
UTSW |
7 |
49,606,210 (GRCm39) |
missense |
probably benign |
0.00 |
R3622:Slc6a5
|
UTSW |
7 |
49,567,371 (GRCm39) |
missense |
probably benign |
0.16 |
R3752:Slc6a5
|
UTSW |
7 |
49,586,062 (GRCm39) |
critical splice donor site |
probably null |
|
R3848:Slc6a5
|
UTSW |
7 |
49,577,306 (GRCm39) |
splice site |
probably benign |
|
R3917:Slc6a5
|
UTSW |
7 |
49,561,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R4617:Slc6a5
|
UTSW |
7 |
49,561,768 (GRCm39) |
missense |
probably benign |
0.00 |
R4663:Slc6a5
|
UTSW |
7 |
49,588,146 (GRCm39) |
nonsense |
probably null |
|
R4757:Slc6a5
|
UTSW |
7 |
49,609,030 (GRCm39) |
missense |
probably benign |
0.15 |
R4916:Slc6a5
|
UTSW |
7 |
49,598,004 (GRCm39) |
missense |
probably benign |
0.00 |
R5183:Slc6a5
|
UTSW |
7 |
49,585,957 (GRCm39) |
missense |
probably damaging |
0.97 |
R5257:Slc6a5
|
UTSW |
7 |
49,579,740 (GRCm39) |
missense |
probably damaging |
0.98 |
R5512:Slc6a5
|
UTSW |
7 |
49,591,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R5537:Slc6a5
|
UTSW |
7 |
49,609,059 (GRCm39) |
missense |
probably benign |
0.03 |
R5558:Slc6a5
|
UTSW |
7 |
49,577,321 (GRCm39) |
missense |
probably benign |
|
R5627:Slc6a5
|
UTSW |
7 |
49,561,522 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5655:Slc6a5
|
UTSW |
7 |
49,606,218 (GRCm39) |
missense |
probably benign |
|
R5720:Slc6a5
|
UTSW |
7 |
49,606,264 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5736:Slc6a5
|
UTSW |
7 |
49,609,102 (GRCm39) |
missense |
probably benign |
0.03 |
R5817:Slc6a5
|
UTSW |
7 |
49,606,239 (GRCm39) |
missense |
probably benign |
0.00 |
R5879:Slc6a5
|
UTSW |
7 |
49,595,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R6033:Slc6a5
|
UTSW |
7 |
49,609,099 (GRCm39) |
missense |
probably benign |
0.01 |
R6033:Slc6a5
|
UTSW |
7 |
49,609,099 (GRCm39) |
missense |
probably benign |
0.01 |
R6072:Slc6a5
|
UTSW |
7 |
49,561,943 (GRCm39) |
missense |
probably damaging |
1.00 |
R6157:Slc6a5
|
UTSW |
7 |
49,601,250 (GRCm39) |
missense |
probably benign |
0.03 |
R6172:Slc6a5
|
UTSW |
7 |
49,598,081 (GRCm39) |
nonsense |
probably null |
|
R6414:Slc6a5
|
UTSW |
7 |
49,559,991 (GRCm39) |
unclassified |
probably benign |
|
R7348:Slc6a5
|
UTSW |
7 |
49,559,915 (GRCm39) |
unclassified |
probably benign |
|
R7381:Slc6a5
|
UTSW |
7 |
49,579,804 (GRCm39) |
missense |
probably damaging |
1.00 |
R7486:Slc6a5
|
UTSW |
7 |
49,567,078 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7624:Slc6a5
|
UTSW |
7 |
49,591,614 (GRCm39) |
missense |
probably benign |
0.00 |
R7760:Slc6a5
|
UTSW |
7 |
49,596,365 (GRCm39) |
missense |
probably benign |
0.03 |
R8174:Slc6a5
|
UTSW |
7 |
49,598,057 (GRCm39) |
missense |
probably benign |
0.39 |
R8219:Slc6a5
|
UTSW |
7 |
49,561,911 (GRCm39) |
missense |
probably benign |
|
R8496:Slc6a5
|
UTSW |
7 |
49,585,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R8786:Slc6a5
|
UTSW |
7 |
49,561,843 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9300:Slc6a5
|
UTSW |
7 |
49,601,175 (GRCm39) |
missense |
probably damaging |
0.97 |
R9400:Slc6a5
|
UTSW |
7 |
49,595,267 (GRCm39) |
missense |
probably benign |
0.44 |
R9401:Slc6a5
|
UTSW |
7 |
49,601,185 (GRCm39) |
missense |
probably damaging |
0.98 |
R9557:Slc6a5
|
UTSW |
7 |
49,561,474 (GRCm39) |
missense |
probably benign |
0.00 |
R9646:Slc6a5
|
UTSW |
7 |
49,567,496 (GRCm39) |
nonsense |
probably null |
|
Z1088:Slc6a5
|
UTSW |
7 |
49,561,605 (GRCm39) |
missense |
probably benign |
0.40 |
|
Predicted Primers |
PCR Primer
(F):5'- TATAGTCTCTGCTGTGGACCAG -3'
(R):5'- AAGATTCACAGTCAGGCACC -3'
Sequencing Primer
(F):5'- AGGACTCTGACCCTGCTG -3'
(R):5'- GATTCACAGTCAGGCACCTTTGG -3'
|
Posted On |
2019-11-26 |