Incidental Mutation 'R6157:Slc6a5'
| ID |
489644 |
| 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 |
044304-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6157 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
49559894-49613604 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49601250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 684
(T684A)
|
| 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 benign
Transcript: ENSMUST00000056442
AA Change: T684A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000058699
Gene: ENSMUSG00000039728
AA Change: T684A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107605
AA Change: T684A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000103230
Gene: ENSMUSG00000039728
AA Change: T684A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207753
AA Change: T684A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209172
|
| Meta Mutation Damage Score |
0.0726 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 93.1%
|
| Validation Efficiency |
93% (40/43) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,947,617 (GRCm39) |
K505E |
possibly damaging |
Het |
| Abcb1b |
A |
T |
5: 8,874,245 (GRCm39) |
N390I |
possibly damaging |
Het |
| Apob |
A |
T |
12: 8,056,077 (GRCm39) |
M1520L |
probably benign |
Het |
| Atg4c |
C |
T |
4: 99,123,400 (GRCm39) |
R396* |
probably null |
Het |
| Atp2a3 |
G |
A |
11: 72,871,442 (GRCm39) |
V648M |
probably damaging |
Het |
| Blm |
T |
C |
7: 80,162,733 (GRCm39) |
D203G |
probably benign |
Het |
| Csrnp3 |
A |
T |
2: 65,779,363 (GRCm39) |
D13V |
probably damaging |
Het |
| Dnajc10 |
A |
T |
2: 80,147,735 (GRCm39) |
|
probably benign |
Het |
| Dst |
A |
G |
1: 34,250,253 (GRCm39) |
Y1729C |
probably damaging |
Het |
| Dynlt2b |
G |
A |
16: 32,238,660 (GRCm39) |
A12T |
possibly damaging |
Het |
| Ecsit |
T |
C |
9: 21,985,987 (GRCm39) |
Y213C |
probably damaging |
Het |
| Fer |
A |
G |
17: 64,385,880 (GRCm39) |
K654R |
probably damaging |
Het |
| Hdac9 |
G |
T |
12: 34,439,428 (GRCm39) |
A383E |
probably damaging |
Het |
| Hltf |
T |
A |
3: 20,130,660 (GRCm39) |
S293T |
probably benign |
Het |
| Hydin |
T |
A |
8: 111,254,648 (GRCm39) |
D2359E |
probably benign |
Het |
| Inf2 |
A |
G |
12: 112,571,222 (GRCm39) |
|
probably benign |
Het |
| Kcns2 |
A |
G |
15: 34,839,504 (GRCm39) |
N289S |
possibly damaging |
Het |
| Meioc |
T |
C |
11: 102,559,227 (GRCm39) |
S50P |
probably damaging |
Het |
| Mocs1 |
G |
T |
17: 49,761,764 (GRCm39) |
E619D |
probably benign |
Het |
| Nfatc2 |
A |
G |
2: 168,361,371 (GRCm39) |
|
probably benign |
Het |
| Or51i1 |
T |
A |
7: 103,671,105 (GRCm39) |
N140I |
possibly damaging |
Het |
| Pag1 |
A |
T |
3: 9,758,896 (GRCm39) |
H407Q |
probably benign |
Het |
| Plaat1 |
A |
G |
16: 29,036,501 (GRCm39) |
I46M |
possibly damaging |
Het |
| Plcb3 |
G |
A |
19: 6,943,533 (GRCm39) |
A122V |
probably damaging |
Het |
| Pld4 |
C |
T |
12: 112,734,535 (GRCm39) |
T432I |
probably damaging |
Het |
| Psd3 |
T |
G |
8: 68,574,179 (GRCm39) |
M1L |
probably benign |
Het |
| Rasgrp2 |
C |
A |
19: 6,452,531 (GRCm39) |
L35I |
probably damaging |
Het |
| Ripor2 |
T |
C |
13: 24,885,052 (GRCm39) |
L390P |
probably damaging |
Het |
| Rpgrip1 |
A |
T |
14: 52,349,631 (GRCm39) |
E6D |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,672,244 (GRCm39) |
L1409Q |
probably damaging |
Het |
| Smpd4 |
G |
T |
16: 17,458,930 (GRCm39) |
|
probably null |
Het |
| Snx18 |
T |
C |
13: 113,753,725 (GRCm39) |
S403G |
probably damaging |
Het |
| Spsb4 |
G |
T |
9: 96,878,160 (GRCm39) |
H54Q |
probably damaging |
Het |
| Ssrp1 |
A |
G |
2: 84,871,072 (GRCm39) |
Y236C |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 48,751,843 (GRCm39) |
S982N |
probably damaging |
Het |
| Tet1 |
A |
G |
10: 62,675,749 (GRCm39) |
S776P |
probably damaging |
Het |
| Tln1 |
G |
A |
4: 43,534,744 (GRCm39) |
P2166S |
probably benign |
Het |
| Ufl1 |
T |
A |
4: 25,279,350 (GRCm39) |
Q83L |
possibly damaging |
Het |
| Unc80 |
A |
T |
1: 66,693,188 (GRCm39) |
K2458* |
probably null |
Het |
| Ush2a |
A |
T |
1: 188,460,467 (GRCm39) |
Y2576F |
probably benign |
Het |
| Xrcc6 |
C |
A |
15: 81,913,305 (GRCm39) |
|
probably null |
Het |
| Zbtb48 |
A |
G |
4: 152,106,064 (GRCm39) |
F380L |
probably damaging |
Het |
| Zfp534 |
C |
T |
4: 147,758,947 (GRCm39) |
R574K |
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 |
|
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 |
|
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'- TACCTCACACATGGCCTCTG -3'
(R):5'- GGTCAATCCTAGCTCCATCC -3'
Sequencing Primer
(F):5'- ACACATGGCCTCTGCTGTC -3'
(R):5'- TAGCTCCATCCCTGACCAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation