Incidental Mutation 'R9646:Slc6a5'
| ID |
726731 |
| 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 # |
R9646 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
49559894-49613604 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 49567496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 317
(K317*)
|
| 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
AA Change: K317*
|
| SMART Domains |
Protein: ENSMUSP00000058699
Gene: ENSMUSG00000039728
AA Change: K317*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107605
AA Change: K317*
|
| SMART Domains |
Protein: ENSMUSP00000103230
Gene: ENSMUSG00000039728
AA Change: K317*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207753
AA Change: K317*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209172
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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 |
|---|
| Adgrl2 |
A |
T |
3: 148,544,926 (GRCm39) |
I723N |
probably damaging |
Het |
| Agbl1 |
G |
A |
7: 76,075,648 (GRCm39) |
R682Q |
unknown |
Het |
| Ankrd42 |
A |
T |
7: 92,273,257 (GRCm39) |
D123E |
possibly damaging |
Het |
| Anxa4 |
A |
T |
6: 86,730,814 (GRCm39) |
I121N |
probably damaging |
Het |
| Asic1 |
T |
C |
15: 99,593,414 (GRCm39) |
F257S |
probably benign |
Het |
| Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
| Cckar |
T |
C |
5: 53,863,608 (GRCm39) |
T118A |
probably benign |
Het |
| Cfap61 |
T |
A |
2: 145,854,152 (GRCm39) |
I388N |
probably damaging |
Het |
| Chrnd |
A |
T |
1: 87,120,311 (GRCm39) |
I156F |
probably damaging |
Het |
| Col15a1 |
T |
A |
4: 47,257,187 (GRCm39) |
L326Q |
possibly damaging |
Het |
| Dcpp3 |
A |
T |
17: 24,138,156 (GRCm39) |
I105L |
possibly damaging |
Het |
| Dnaaf5 |
T |
A |
5: 139,151,832 (GRCm39) |
H494Q |
probably benign |
Het |
| Dph5 |
T |
A |
3: 115,708,692 (GRCm39) |
Y125N |
probably damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,170,280 (GRCm39) |
V111A |
probably damaging |
Het |
| Etl4 |
T |
A |
2: 20,802,724 (GRCm39) |
I1010K |
probably benign |
Het |
| Faf1 |
T |
A |
4: 109,652,016 (GRCm39) |
W236R |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,035,813 (GRCm39) |
D3155G |
probably damaging |
Het |
| Fhip2b |
T |
C |
14: 70,827,808 (GRCm39) |
H125R |
probably damaging |
Het |
| Firrm |
A |
G |
1: 163,822,195 (GRCm39) |
V32A |
probably damaging |
Het |
| Galnt12 |
T |
C |
4: 47,120,390 (GRCm39) |
I491T |
probably damaging |
Het |
| Gm10553 |
T |
A |
1: 85,077,901 (GRCm39) |
L6Q |
probably damaging |
Het |
| H2-T10 |
A |
T |
17: 36,431,157 (GRCm39) |
I168N |
probably damaging |
Het |
| Hdac9 |
T |
A |
12: 34,487,167 (GRCm39) |
Q78L |
probably damaging |
Het |
| Hmx1 |
C |
T |
5: 35,549,400 (GRCm39) |
T231M |
probably damaging |
Het |
| Hrob |
A |
T |
11: 102,146,586 (GRCm39) |
Q287H |
possibly damaging |
Het |
| Hsd17b13 |
T |
C |
5: 104,124,973 (GRCm39) |
K70R |
probably null |
Het |
| Hykk |
C |
T |
9: 54,853,521 (GRCm39) |
T281I |
probably benign |
Het |
| Il1r2 |
A |
G |
1: 40,162,362 (GRCm39) |
D335G |
probably damaging |
Het |
| Insig2 |
A |
C |
1: 121,240,040 (GRCm39) |
L87V |
probably damaging |
Het |
| Insrr |
A |
T |
3: 87,721,805 (GRCm39) |
Y1193F |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,371,845 (GRCm39) |
Y1173C |
probably damaging |
Het |
| Kcnh8 |
A |
G |
17: 53,104,573 (GRCm39) |
N190S |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,897,119 (GRCm39) |
F161L |
probably benign |
Het |
| Lilra5 |
T |
C |
7: 4,244,907 (GRCm39) |
L226P |
probably damaging |
Het |
| Muc2 |
C |
T |
7: 141,276,643 (GRCm39) |
A11V |
probably benign |
Het |
| Nrp2 |
T |
C |
1: 62,777,566 (GRCm39) |
F124L |
probably damaging |
Het |
| Or52e4 |
T |
C |
7: 104,706,374 (GRCm39) |
I307T |
probably benign |
Het |
| Or5m11b |
T |
A |
2: 85,806,446 (GRCm39) |
N286K |
probably benign |
Het |
| Or5w15 |
T |
A |
2: 87,568,512 (GRCm39) |
D52V |
probably damaging |
Het |
| Or8c19-ps1 |
T |
A |
9: 38,220,114 (GRCm39) |
S8T |
probably damaging |
Het |
| Pcdhb17 |
A |
T |
18: 37,618,471 (GRCm39) |
N87I |
possibly damaging |
Het |
| Pdgfrb |
T |
A |
18: 61,211,721 (GRCm39) |
|
probably null |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pepd |
A |
T |
7: 34,620,882 (GRCm39) |
Q49L |
possibly damaging |
Het |
| Pigo |
C |
A |
4: 43,017,967 (GRCm39) |
R1083L |
probably damaging |
Het |
| Pitpnm1 |
G |
A |
19: 4,153,269 (GRCm39) |
D142N |
probably damaging |
Het |
| Plod1 |
C |
T |
4: 148,016,112 (GRCm39) |
E93K |
probably benign |
Het |
| Pramel11 |
A |
T |
4: 143,623,634 (GRCm39) |
V180E |
probably damaging |
Het |
| Rev3l |
T |
C |
10: 39,698,440 (GRCm39) |
I979T |
probably damaging |
Het |
| Scrib |
C |
T |
15: 75,932,492 (GRCm39) |
G743D |
probably damaging |
Het |
| Septin3 |
T |
C |
15: 82,170,088 (GRCm39) |
S205P |
probably benign |
Het |
| Sez6 |
A |
G |
11: 77,867,632 (GRCm39) |
K850E |
probably damaging |
Het |
| Sfxn5 |
T |
A |
6: 85,266,195 (GRCm39) |
T101S |
probably damaging |
Het |
| Sox8 |
A |
T |
17: 25,786,871 (GRCm39) |
D277E |
probably benign |
Het |
| Sptbn2 |
G |
T |
19: 4,795,341 (GRCm39) |
A1600S |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,179,187 (GRCm39) |
V4429A |
possibly damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,773,266 (GRCm39) |
F1137L |
possibly damaging |
Het |
| Trim43a |
A |
G |
9: 88,466,392 (GRCm39) |
R238G |
probably benign |
Het |
| Triobp |
T |
C |
15: 78,887,934 (GRCm39) |
L1943P |
probably damaging |
Het |
| Vmn1r125 |
T |
C |
7: 21,006,261 (GRCm39) |
V53A |
possibly damaging |
Het |
| Vwa5b1 |
T |
A |
4: 138,319,420 (GRCm39) |
N412I |
probably damaging |
Het |
| Yipf7 |
T |
A |
5: 69,678,424 (GRCm39) |
T122S |
probably benign |
Het |
| Zfp1005 |
C |
T |
2: 150,110,104 (GRCm39) |
H265Y |
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 |
|
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 |
|
Z1088:Slc6a5
|
UTSW |
7 |
49,561,605 (GRCm39) |
missense |
probably benign |
0.40 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATGATACCAACACAGGCC -3'
(R):5'- AACACATCAGCTCTCTGGGAG -3'
Sequencing Primer
(F):5'- AACACAGGCCCTTCACCTTTG -3'
(R):5'- CTCTCTGGGAGCAAACAAGACTTTTC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation