Incidental Mutation 'R9400:Slc6a5'
| ID |
711054 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9400 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
49559894-49613604 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49595267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 543
(V543A)
|
| 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 benign
Transcript: ENSMUST00000056442
AA Change: V543A
PolyPhen 2
Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000058699
Gene: ENSMUSG00000039728
AA Change: V543A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107605
AA Change: V543A
PolyPhen 2
Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103230
Gene: ENSMUSG00000039728
AA Change: V543A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207753
AA Change: V543A
PolyPhen 2
Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209172
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
A |
G |
17: 9,211,118 (GRCm39) |
N89S |
probably benign |
Het |
| 9930111J21Rik1 |
C |
T |
11: 48,839,244 (GRCm39) |
E448K |
possibly damaging |
Het |
| Acer1 |
G |
A |
17: 57,288,990 (GRCm39) |
T40M |
probably damaging |
Het |
| Adam1a |
T |
C |
5: 121,657,893 (GRCm39) |
T467A |
probably benign |
Het |
| Agmat |
A |
G |
4: 141,476,981 (GRCm39) |
D129G |
probably damaging |
Het |
| Ak8 |
T |
A |
2: 28,650,011 (GRCm39) |
I346N |
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 66,291,875 (GRCm39) |
V1186E |
probably damaging |
Het |
| Ankrd27 |
T |
G |
7: 35,316,282 (GRCm39) |
L516R |
probably damaging |
Het |
| Aplp2 |
C |
A |
9: 31,075,855 (GRCm39) |
R402L |
possibly damaging |
Het |
| Aspm |
A |
G |
1: 139,407,641 (GRCm39) |
Y2176C |
probably damaging |
Het |
| Boc |
T |
C |
16: 44,319,844 (GRCm39) |
D380G |
|
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Chst2 |
T |
C |
9: 95,287,642 (GRCm39) |
S235G |
probably benign |
Het |
| Clca4b |
A |
G |
3: 144,616,953 (GRCm39) |
V899A |
probably benign |
Het |
| Ddx1 |
A |
G |
12: 13,273,703 (GRCm39) |
S617P |
probably damaging |
Het |
| Etv5 |
A |
T |
16: 22,220,476 (GRCm39) |
F304I |
probably benign |
Het |
| Fmo9 |
T |
G |
1: 166,505,243 (GRCm39) |
E50A |
probably benign |
Het |
| Gbp11 |
T |
C |
5: 105,478,841 (GRCm39) |
E199G |
probably damaging |
Het |
| Gemin5 |
C |
T |
11: 58,028,541 (GRCm39) |
G893D |
probably damaging |
Het |
| Gorab |
G |
T |
1: 163,224,567 (GRCm39) |
P78Q |
probably damaging |
Het |
| Gprc5a |
A |
G |
6: 135,055,558 (GRCm39) |
T2A |
probably benign |
Het |
| Gtf3c1 |
A |
G |
7: 125,275,683 (GRCm39) |
I581T |
probably damaging |
Het |
| H6pd |
A |
G |
4: 150,080,248 (GRCm39) |
F199S |
probably damaging |
Het |
| Hdac3 |
A |
T |
18: 38,070,677 (GRCm39) |
V426E |
possibly damaging |
Het |
| Jag2 |
G |
T |
12: 112,875,608 (GRCm39) |
Y838* |
probably null |
Het |
| Kat6b |
G |
T |
14: 21,659,826 (GRCm39) |
R210L |
probably damaging |
Het |
| Kctd11 |
C |
A |
11: 69,770,544 (GRCm39) |
E165* |
probably null |
Het |
| Knl1 |
T |
C |
2: 118,931,224 (GRCm39) |
V1980A |
probably damaging |
Het |
| Lilrb4b |
T |
C |
10: 51,357,319 (GRCm39) |
S52P |
probably benign |
Het |
| Lrp5 |
T |
G |
19: 3,635,272 (GRCm39) |
M1535L |
probably benign |
Het |
| Lrr1 |
A |
G |
12: 69,221,476 (GRCm39) |
D206G |
probably benign |
Het |
| Lrrd1 |
G |
A |
5: 3,899,677 (GRCm39) |
|
probably benign |
Het |
| Map3k6 |
C |
A |
4: 132,968,467 (GRCm39) |
A23E |
probably damaging |
Het |
| Mgat4a |
T |
C |
1: 37,502,025 (GRCm39) |
D241G |
probably damaging |
Het |
| Mpzl3 |
A |
G |
9: 44,986,077 (GRCm39) |
Y237C |
possibly damaging |
Het |
| Mroh1 |
A |
G |
15: 76,336,093 (GRCm39) |
E1489G |
possibly damaging |
Het |
| Myocd |
T |
C |
11: 65,086,934 (GRCm39) |
H331R |
probably benign |
Het |
| Myoz1 |
T |
A |
14: 20,699,504 (GRCm39) |
H278L |
probably benign |
Het |
| Or12d2 |
A |
T |
17: 37,624,554 (GRCm39) |
C240* |
probably null |
Het |
| Or1e22 |
A |
T |
11: 73,376,807 (GRCm39) |
V281E |
probably damaging |
Het |
| Or4c104 |
A |
G |
2: 88,586,293 (GRCm39) |
I242T |
possibly damaging |
Het |
| Or5a3 |
C |
A |
19: 12,400,274 (GRCm39) |
N200K |
possibly damaging |
Het |
| Or5b102 |
T |
A |
19: 13,041,139 (GRCm39) |
Y121* |
probably null |
Het |
| Or5b24 |
T |
A |
19: 12,912,878 (GRCm39) |
Y259N |
probably damaging |
Het |
| Otof |
A |
T |
5: 30,540,863 (GRCm39) |
|
probably null |
Het |
| Pcdha1 |
A |
G |
18: 37,064,760 (GRCm39) |
I475V |
probably benign |
Het |
| Pcgf1 |
A |
G |
6: 83,057,066 (GRCm39) |
E199G |
possibly damaging |
Het |
| Pip |
C |
A |
6: 41,828,782 (GRCm39) |
T109K |
probably benign |
Het |
| Slc12a7 |
A |
G |
13: 73,932,689 (GRCm39) |
E59G |
probably benign |
Het |
| Slc38a2 |
T |
C |
15: 96,591,053 (GRCm39) |
I237V |
probably benign |
Het |
| Slc9a2 |
T |
C |
1: 40,758,211 (GRCm39) |
V250A |
possibly damaging |
Het |
| Smarcad1 |
T |
C |
6: 65,050,214 (GRCm39) |
Y278H |
probably damaging |
Het |
| Snx7 |
A |
T |
3: 117,630,863 (GRCm39) |
N248K |
probably benign |
Het |
| Spata6 |
T |
A |
4: 111,577,428 (GRCm39) |
C9S |
probably benign |
Het |
| Stra6l |
T |
A |
4: 45,885,293 (GRCm39) |
L587Q |
probably damaging |
Het |
| Tmem131l |
G |
T |
3: 83,830,293 (GRCm39) |
N916K |
possibly damaging |
Het |
| Tmprss11c |
C |
T |
5: 86,385,516 (GRCm39) |
V319I |
probably benign |
Het |
| Tpo |
A |
T |
12: 30,169,441 (GRCm39) |
I98K |
possibly damaging |
Het |
| Umodl1 |
A |
G |
17: 31,215,367 (GRCm39) |
T1064A |
probably damaging |
Het |
| Vldlr |
T |
C |
19: 27,216,175 (GRCm39) |
I332T |
probably damaging |
Het |
| Wdr75 |
T |
A |
1: 45,843,064 (GRCm39) |
L133Q |
probably damaging |
Het |
| Zdhhc21 |
T |
C |
4: 82,753,687 (GRCm39) |
N167S |
probably benign |
Het |
| Zfp37 |
A |
T |
4: 62,109,904 (GRCm39) |
C428S |
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 |
|
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 |
|
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'- AGTATTTTCATGGGAGGAAGGC -3'
(R):5'- AGATGCCTCAGTGTAACCCATAAG -3'
Sequencing Primer
(F):5'- TCATGGGAGGAAGGCTGGTC -3'
(R):5'- ATAAGCCTAAGCCTTTTCTGCAGG -3'
|
| Posted On |
2022-04-20 |
Incidental Mutation