Incidental Mutation 'R4617:Slc6a5'
| ID |
351112 |
| 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 |
041828-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4617 (G1)
|
| Quality Score |
206 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
49559894-49613604 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49561768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 100
(N100S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146430
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056442]
[ENSMUST00000107605]
[ENSMUST00000207753]
[ENSMUST00000209172]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056442
AA Change: N100S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000058699
Gene: ENSMUSG00000039728
AA Change: N100S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107605
AA Change: N100S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103230
Gene: ENSMUSG00000039728
AA Change: N100S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207753
AA Change: N100S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209172
AA Change: N100S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
96% (66/69) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,369,493 (GRCm39) |
I363V |
probably benign |
Het |
| Acaa1a |
T |
A |
9: 119,178,006 (GRCm39) |
S279R |
probably damaging |
Het |
| Akr1cl |
A |
G |
1: 65,060,550 (GRCm39) |
C156R |
probably damaging |
Het |
| Arhgap11a |
G |
A |
2: 113,664,423 (GRCm39) |
T620M |
probably benign |
Het |
| Brinp1 |
A |
G |
4: 68,681,198 (GRCm39) |
I444T |
possibly damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,394,913 (GRCm39) |
I760V |
probably benign |
Het |
| Cdh26 |
G |
A |
2: 178,102,435 (GRCm39) |
|
probably benign |
Het |
| Cpd |
A |
G |
11: 76,731,441 (GRCm39) |
L255P |
probably damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,144,845 (GRCm39) |
Y670H |
probably damaging |
Het |
| Disp2 |
G |
A |
2: 118,620,643 (GRCm39) |
M458I |
probably benign |
Het |
| Dot1l |
T |
C |
10: 80,620,918 (GRCm39) |
I563T |
probably damaging |
Het |
| Egf |
A |
T |
3: 129,484,442 (GRCm39) |
S1001T |
probably benign |
Het |
| Elfn1 |
A |
G |
5: 139,957,764 (GRCm39) |
Y256C |
probably damaging |
Het |
| Exoc4 |
C |
T |
6: 33,839,139 (GRCm39) |
T725I |
probably benign |
Het |
| Fam168b |
A |
G |
1: 34,859,063 (GRCm39) |
V72A |
possibly damaging |
Het |
| Fbxw20 |
C |
T |
9: 109,046,631 (GRCm39) |
S443N |
probably damaging |
Het |
| Flacc1 |
A |
T |
1: 58,700,601 (GRCm39) |
D301E |
probably benign |
Het |
| Flrt2 |
T |
C |
12: 95,747,003 (GRCm39) |
V447A |
possibly damaging |
Het |
| Gm4846 |
A |
G |
1: 166,323,550 (GRCm39) |
S58P |
probably damaging |
Het |
| Gpr20 |
T |
C |
15: 73,567,585 (GRCm39) |
N268S |
probably benign |
Het |
| Lpcat2b |
T |
C |
5: 107,581,865 (GRCm39) |
L398P |
possibly damaging |
Het |
| Mapk8ip3 |
G |
A |
17: 25,123,761 (GRCm39) |
P587L |
probably damaging |
Het |
| Mfap4 |
C |
A |
11: 61,376,335 (GRCm39) |
|
probably benign |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mrpl38 |
T |
C |
11: 116,023,278 (GRCm39) |
D325G |
probably damaging |
Het |
| Mtmr12 |
A |
G |
15: 12,270,132 (GRCm39) |
E430G |
probably damaging |
Het |
| Mup18 |
T |
A |
4: 61,590,154 (GRCm39) |
I125F |
possibly damaging |
Het |
| Ogdhl |
A |
G |
14: 32,047,842 (GRCm39) |
R31G |
probably benign |
Het |
| Or13f5 |
A |
T |
4: 52,825,399 (GRCm39) |
M1L |
probably benign |
Het |
| Pcdh1 |
C |
A |
18: 38,330,913 (GRCm39) |
V697L |
probably benign |
Het |
| Pcdhga9 |
T |
C |
18: 37,871,553 (GRCm39) |
Y461H |
probably damaging |
Het |
| Pdzrn4 |
A |
G |
15: 92,667,723 (GRCm39) |
Y625C |
probably damaging |
Het |
| Pkd2l1 |
C |
A |
19: 44,142,573 (GRCm39) |
A490S |
probably damaging |
Het |
| Poglut2 |
A |
C |
1: 44,149,180 (GRCm39) |
F453V |
probably damaging |
Het |
| Ptprn |
T |
A |
1: 75,228,931 (GRCm39) |
D828V |
possibly damaging |
Het |
| Rgs12 |
T |
A |
5: 35,177,700 (GRCm39) |
W97R |
probably damaging |
Het |
| Rnf10 |
T |
A |
5: 115,386,762 (GRCm39) |
Q508L |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sec24b |
A |
T |
3: 129,834,413 (GRCm39) |
S126T |
possibly damaging |
Het |
| Speer1j |
T |
C |
5: 11,553,798 (GRCm39) |
S7P |
probably benign |
Het |
| Stam2 |
A |
T |
2: 52,605,716 (GRCm39) |
D167E |
probably benign |
Het |
| Stambp |
G |
A |
6: 83,538,960 (GRCm39) |
Q147* |
probably null |
Het |
| Tbc1d32 |
A |
G |
10: 56,047,000 (GRCm39) |
V556A |
possibly damaging |
Het |
| Tll2 |
T |
C |
19: 41,087,075 (GRCm39) |
D592G |
probably benign |
Het |
| Tmem199 |
A |
T |
11: 78,400,508 (GRCm39) |
|
probably benign |
Het |
| Traip |
T |
A |
9: 107,847,218 (GRCm39) |
N352K |
probably benign |
Het |
| Trmt1l |
C |
T |
1: 151,329,799 (GRCm39) |
Q581* |
probably null |
Het |
| Usp54 |
C |
A |
14: 20,600,406 (GRCm39) |
A1444S |
probably benign |
Het |
| Vsig1 |
G |
T |
X: 139,827,135 (GRCm39) |
A95S |
probably benign |
Het |
| Xdh |
G |
A |
17: 74,225,389 (GRCm39) |
T471I |
probably damaging |
Het |
| Zdhhc19 |
A |
G |
16: 32,316,494 (GRCm39) |
D83G |
probably damaging |
Het |
| Zfp352 |
A |
G |
4: 90,113,318 (GRCm39) |
K486R |
probably benign |
Het |
| Zfp451 |
A |
G |
1: 33,841,752 (GRCm39) |
|
probably benign |
Het |
| Zfp963 |
A |
T |
8: 70,195,944 (GRCm39) |
S170T |
probably benign |
Het |
| Zfp970 |
A |
G |
2: 177,167,961 (GRCm39) |
I512V |
probably benign |
Het |
| Zfp990 |
A |
G |
4: 145,263,616 (GRCm39) |
I205V |
possibly 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 |
|
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'- ATAGTCCTCGTGCACCTAGG -3'
(R):5'- TGTGACCTGCTTACCGGTATG -3'
Sequencing Primer
(F):5'- TCGTGCACCTAGGACCAG -3'
(R):5'- GATGCCATCGGTTCCCAAC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation