Incidental Mutation 'IGL01141:Slc1a4'
ID |
52378 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc1a4
|
Ensembl Gene |
ENSMUSG00000020142 |
Gene Name |
solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 |
Synonyms |
ASCT1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01141
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
20252180-20282713 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 20258644 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105223
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004634]
[ENSMUST00000109594]
|
AlphaFold |
O35874 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000004634
|
SMART Domains |
Protein: ENSMUSP00000004634 Gene: ENSMUSG00000020142
Domain | Start | End | E-Value | Type |
Pfam:SDF
|
1 |
397 |
2.7e-121 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109594
|
SMART Domains |
Protein: ENSMUSP00000105223 Gene: ENSMUSG00000020142
Domain | Start | End | E-Value | Type |
Pfam:SDF
|
44 |
477 |
4.2e-121 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, microcephaly, and intellectual disability. [provided by RefSeq, Jan 2017]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
A |
T |
11: 109,828,556 (GRCm39) |
D1447E |
probably damaging |
Het |
Atp2a3 |
T |
C |
11: 72,873,491 (GRCm39) |
I788T |
probably damaging |
Het |
Axin1 |
G |
A |
17: 26,409,015 (GRCm39) |
E672K |
probably damaging |
Het |
Ccno |
A |
G |
13: 113,125,561 (GRCm39) |
D175G |
probably damaging |
Het |
Cep83 |
C |
A |
10: 94,624,619 (GRCm39) |
T632K |
probably benign |
Het |
Ckmt1 |
A |
T |
2: 121,193,474 (GRCm39) |
I345F |
probably benign |
Het |
Cntnap1 |
G |
A |
11: 101,069,633 (GRCm39) |
|
probably benign |
Het |
Cstdc3 |
A |
G |
16: 36,128,426 (GRCm39) |
E7G |
probably benign |
Het |
Edem2 |
A |
G |
2: 155,550,948 (GRCm39) |
Y340H |
probably benign |
Het |
Erich3 |
A |
G |
3: 154,419,653 (GRCm39) |
K249R |
probably benign |
Het |
Fndc9 |
T |
C |
11: 46,128,526 (GRCm39) |
I15T |
probably benign |
Het |
Grip2 |
G |
T |
6: 91,759,878 (GRCm39) |
Q300K |
probably benign |
Het |
Herc2 |
T |
C |
7: 55,862,589 (GRCm39) |
V4050A |
possibly damaging |
Het |
Jup |
A |
T |
11: 100,277,075 (GRCm39) |
D44E |
probably benign |
Het |
Lingo3 |
G |
T |
10: 80,671,147 (GRCm39) |
P261Q |
probably damaging |
Het |
Lrrfip2 |
C |
T |
9: 111,048,783 (GRCm39) |
R311W |
probably damaging |
Het |
Mansc1 |
C |
A |
6: 134,598,748 (GRCm39) |
L56F |
probably benign |
Het |
Map1b |
A |
G |
13: 99,571,269 (GRCm39) |
I484T |
probably damaging |
Het |
Mpeg1 |
T |
A |
19: 12,440,149 (GRCm39) |
F536I |
probably damaging |
Het |
Mrgprb1 |
T |
G |
7: 48,097,775 (GRCm39) |
T46P |
probably benign |
Het |
Mug1 |
A |
G |
6: 121,847,458 (GRCm39) |
N612S |
probably benign |
Het |
Or5p56 |
T |
C |
7: 107,589,758 (GRCm39) |
F62S |
probably damaging |
Het |
Or6c212 |
T |
A |
10: 129,558,814 (GRCm39) |
I200L |
probably benign |
Het |
Pax8 |
A |
G |
2: 24,331,162 (GRCm39) |
S178P |
probably damaging |
Het |
Peak1 |
A |
G |
9: 56,165,811 (GRCm39) |
F706L |
probably benign |
Het |
Prkdc |
A |
G |
16: 15,544,568 (GRCm39) |
T1853A |
probably damaging |
Het |
Reln |
A |
C |
5: 22,174,031 (GRCm39) |
F2024C |
probably damaging |
Het |
Reln |
G |
T |
5: 22,124,067 (GRCm39) |
P2813Q |
probably damaging |
Het |
Riox1 |
A |
G |
12: 83,998,568 (GRCm39) |
Q368R |
probably damaging |
Het |
Rspry1 |
T |
C |
8: 95,376,483 (GRCm39) |
V335A |
probably benign |
Het |
Scn3a |
T |
C |
2: 65,325,457 (GRCm39) |
N1020S |
possibly damaging |
Het |
Scyl2 |
A |
G |
10: 89,476,497 (GRCm39) |
V876A |
probably benign |
Het |
Sdhaf3 |
T |
A |
6: 6,956,141 (GRCm39) |
F39I |
probably damaging |
Het |
Sfxn4 |
T |
C |
19: 60,839,452 (GRCm39) |
E202G |
possibly damaging |
Het |
Sln |
A |
G |
9: 53,760,784 (GRCm39) |
I10V |
probably benign |
Het |
Ssh2 |
A |
G |
11: 77,340,552 (GRCm39) |
E568G |
probably damaging |
Het |
Supt7l |
G |
A |
5: 31,675,779 (GRCm39) |
P270S |
probably benign |
Het |
Tanc2 |
A |
G |
11: 105,777,300 (GRCm39) |
|
probably benign |
Het |
Tatdn1 |
A |
T |
15: 58,781,416 (GRCm39) |
|
probably benign |
Het |
Tfip11 |
C |
T |
5: 112,477,369 (GRCm39) |
P117L |
possibly damaging |
Het |
Vpreb1a |
T |
C |
16: 16,686,951 (GRCm39) |
M9V |
probably benign |
Het |
|
Other mutations in Slc1a4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01889:Slc1a4
|
APN |
11 |
20,264,089 (GRCm39) |
splice site |
probably benign |
|
IGL02725:Slc1a4
|
APN |
11 |
20,258,408 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03409:Slc1a4
|
APN |
11 |
20,256,506 (GRCm39) |
missense |
probably damaging |
1.00 |
G1Funyon:Slc1a4
|
UTSW |
11 |
20,282,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R0085:Slc1a4
|
UTSW |
11 |
20,254,510 (GRCm39) |
splice site |
probably benign |
|
R0771:Slc1a4
|
UTSW |
11 |
20,256,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R0898:Slc1a4
|
UTSW |
11 |
20,254,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R1326:Slc1a4
|
UTSW |
11 |
20,282,159 (GRCm39) |
missense |
probably damaging |
1.00 |
R1992:Slc1a4
|
UTSW |
11 |
20,254,375 (GRCm39) |
missense |
probably benign |
0.31 |
R2497:Slc1a4
|
UTSW |
11 |
20,282,620 (GRCm39) |
start gained |
probably benign |
|
R3498:Slc1a4
|
UTSW |
11 |
20,263,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R4608:Slc1a4
|
UTSW |
11 |
20,254,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R4631:Slc1a4
|
UTSW |
11 |
20,258,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R4885:Slc1a4
|
UTSW |
11 |
20,254,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R4911:Slc1a4
|
UTSW |
11 |
20,282,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R5533:Slc1a4
|
UTSW |
11 |
20,254,417 (GRCm39) |
missense |
probably benign |
0.01 |
R5548:Slc1a4
|
UTSW |
11 |
20,254,429 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6523:Slc1a4
|
UTSW |
11 |
20,282,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R6863:Slc1a4
|
UTSW |
11 |
20,264,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R6941:Slc1a4
|
UTSW |
11 |
20,254,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R7508:Slc1a4
|
UTSW |
11 |
20,256,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R7747:Slc1a4
|
UTSW |
11 |
20,258,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R7748:Slc1a4
|
UTSW |
11 |
20,282,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R7934:Slc1a4
|
UTSW |
11 |
20,258,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R8142:Slc1a4
|
UTSW |
11 |
20,257,890 (GRCm39) |
critical splice donor site |
probably null |
|
R8301:Slc1a4
|
UTSW |
11 |
20,282,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R8398:Slc1a4
|
UTSW |
11 |
20,257,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R8827:Slc1a4
|
UTSW |
11 |
20,270,237 (GRCm39) |
splice site |
probably benign |
|
R9031:Slc1a4
|
UTSW |
11 |
20,282,532 (GRCm39) |
start gained |
probably benign |
|
R9132:Slc1a4
|
UTSW |
11 |
20,258,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R9280:Slc1a4
|
UTSW |
11 |
20,282,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R9352:Slc1a4
|
UTSW |
11 |
20,282,025 (GRCm39) |
missense |
probably damaging |
0.97 |
R9548:Slc1a4
|
UTSW |
11 |
20,258,041 (GRCm39) |
missense |
probably damaging |
1.00 |
R9616:Slc1a4
|
UTSW |
11 |
20,282,403 (GRCm39) |
missense |
probably benign |
|
X0025:Slc1a4
|
UTSW |
11 |
20,268,703 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2013-06-21 |