Incidental Mutation 'R2098:Slc6a5'
ID |
230368 |
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 |
040102-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2098 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
49559894-49613604 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 49595315 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 559
(I559T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146917
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056442]
[ENSMUST00000107605]
[ENSMUST00000207753]
[ENSMUST00000209172]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056442
AA Change: I559T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000058699 Gene: ENSMUSG00000039728 AA Change: I559T
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107605
AA Change: I559T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000103230 Gene: ENSMUSG00000039728 AA Change: I559T
Domain | Start | End | E-Value | Type |
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000207753
AA Change: I559T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209172
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
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- 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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
T |
C |
11: 109,927,405 (GRCm39) |
E1316G |
probably damaging |
Het |
Arhgap32 |
C |
A |
9: 32,171,207 (GRCm39) |
T1329K |
probably damaging |
Het |
Arhgef10l |
G |
C |
4: 140,306,743 (GRCm39) |
L104V |
probably damaging |
Het |
Bend3 |
T |
C |
10: 43,386,500 (GRCm39) |
S298P |
probably damaging |
Het |
Cacna1b |
C |
T |
2: 24,540,558 (GRCm39) |
V1385M |
probably damaging |
Het |
Camk2d |
G |
A |
3: 126,574,091 (GRCm39) |
G166D |
probably damaging |
Het |
Cd84 |
G |
A |
1: 171,713,148 (GRCm39) |
C291Y |
probably benign |
Het |
Cdhr2 |
A |
G |
13: 54,863,457 (GRCm39) |
I113V |
probably benign |
Het |
Cfap206 |
G |
A |
4: 34,719,053 (GRCm39) |
Q318* |
probably null |
Het |
Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
Cyth1 |
T |
A |
11: 118,084,479 (GRCm39) |
I25F |
probably damaging |
Het |
Dock2 |
A |
T |
11: 34,216,279 (GRCm39) |
N1208K |
probably benign |
Het |
Dock2 |
A |
G |
11: 34,609,832 (GRCm39) |
S203P |
probably damaging |
Het |
Ehbp1l1 |
G |
T |
19: 5,758,686 (GRCm39) |
T1652K |
possibly damaging |
Het |
Eps8l2 |
G |
A |
7: 140,935,705 (GRCm39) |
|
probably null |
Het |
Fam3d |
T |
C |
14: 8,361,479 (GRCm38) |
I47V |
probably benign |
Het |
Gm10250 |
A |
G |
15: 5,150,296 (GRCm39) |
|
probably benign |
Het |
Gm9772 |
T |
C |
17: 22,225,618 (GRCm39) |
H94R |
probably benign |
Het |
Hspg2 |
G |
A |
4: 137,247,420 (GRCm39) |
G1184D |
probably damaging |
Het |
Igfn1 |
T |
A |
1: 135,906,043 (GRCm39) |
D255V |
probably damaging |
Het |
Marf1 |
T |
C |
16: 13,932,064 (GRCm39) |
H1651R |
probably benign |
Het |
Mllt10 |
T |
C |
2: 18,167,464 (GRCm39) |
V385A |
possibly damaging |
Het |
Mmp1b |
G |
A |
9: 7,386,984 (GRCm39) |
S76L |
probably benign |
Het |
Mrps2 |
C |
A |
2: 28,358,327 (GRCm39) |
T39K |
probably benign |
Het |
Myo6 |
T |
C |
9: 80,188,808 (GRCm39) |
Y715H |
probably damaging |
Het |
Nsun7 |
A |
G |
5: 66,441,055 (GRCm39) |
E392G |
probably damaging |
Het |
Obscn |
C |
T |
11: 58,960,817 (GRCm39) |
E3374K |
probably damaging |
Het |
Or2a20 |
G |
A |
6: 43,194,437 (GRCm39) |
V197I |
probably benign |
Het |
Or4c11 |
A |
T |
2: 88,695,215 (GRCm39) |
I89F |
probably benign |
Het |
Or56a4 |
A |
G |
7: 104,806,478 (GRCm39) |
V137A |
probably benign |
Het |
Or5w13 |
A |
T |
2: 87,524,073 (GRCm39) |
M51K |
probably benign |
Het |
Pkd2 |
C |
T |
5: 104,626,768 (GRCm39) |
P317S |
probably damaging |
Het |
Prl5a1 |
T |
C |
13: 28,329,488 (GRCm39) |
S56P |
probably damaging |
Het |
Psmd1 |
A |
G |
1: 86,009,823 (GRCm39) |
|
probably null |
Het |
Ptchd3 |
T |
C |
11: 121,733,305 (GRCm39) |
C732R |
probably damaging |
Het |
Rad51c |
A |
T |
11: 87,293,589 (GRCm39) |
V71E |
probably benign |
Het |
Scn11a |
A |
T |
9: 119,621,560 (GRCm39) |
I619K |
possibly damaging |
Het |
Sgpp1 |
T |
G |
12: 75,763,284 (GRCm39) |
D299A |
probably damaging |
Het |
Slc16a4 |
C |
A |
3: 107,208,163 (GRCm39) |
Y224* |
probably null |
Het |
Slc22a30 |
G |
A |
19: 8,378,175 (GRCm39) |
S167L |
probably damaging |
Het |
Spire1 |
A |
G |
18: 67,636,536 (GRCm39) |
F364L |
probably damaging |
Het |
Srek1 |
G |
A |
13: 103,881,363 (GRCm39) |
T421I |
unknown |
Het |
St8sia4 |
T |
C |
1: 95,581,253 (GRCm39) |
H163R |
probably damaging |
Het |
Supt6 |
A |
G |
11: 78,104,087 (GRCm39) |
|
probably null |
Het |
Tas2r103 |
T |
C |
6: 133,013,560 (GRCm39) |
T169A |
probably benign |
Het |
Thrap3 |
A |
G |
4: 126,073,823 (GRCm39) |
S308P |
probably damaging |
Het |
V1rd19 |
C |
T |
7: 23,703,160 (GRCm39) |
L209F |
probably damaging |
Het |
Zfp267 |
T |
A |
3: 36,220,289 (GRCm39) |
S771T |
probably benign |
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 |
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 |
R7735:Slc6a5
|
UTSW |
7 |
49,598,090 (GRCm39) |
critical splice donor site |
probably null |
|
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'- ACAGTGGAGCGAACCTATGG -3'
(R):5'- GAGGAGACTTACTGTGACTCTAGAC -3'
Sequencing Primer
(F):5'- CTATGGCCTGTGAAACCGTTCAG -3'
(R):5'- GACTTACTGTGACTCTAGACAGGTC -3'
|
Posted On |
2014-09-18 |