Incidental Mutation 'IGL03409:Slc1a4'
| ID |
421722 |
| 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 # |
IGL03409
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
20252180-20282713 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20256506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 442
(T442A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105223
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004634]
[ENSMUST00000109594]
|
| AlphaFold |
O35874 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000004634
AA Change: T362A
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000004634
Gene: ENSMUSG00000020142
AA Change: T362A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SDF
|
1 |
397 |
2.7e-121 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109594
AA Change: T442A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105223
Gene: ENSMUSG00000020142
AA Change: T442A
| 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 |
|---|
| Abcb10 |
A |
T |
8: 124,691,762 (GRCm39) |
M401K |
possibly damaging |
Het |
| Ablim3 |
T |
A |
18: 61,978,922 (GRCm39) |
H203L |
probably damaging |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Aox1 |
T |
G |
1: 58,393,588 (GRCm39) |
D1249E |
possibly damaging |
Het |
| Astn2 |
T |
C |
4: 65,353,423 (GRCm39) |
I1116V |
possibly damaging |
Het |
| Atad3a |
T |
C |
4: 155,831,807 (GRCm39) |
D489G |
probably damaging |
Het |
| Caln1 |
G |
T |
5: 130,646,719 (GRCm39) |
G52C |
probably damaging |
Het |
| Clcn7 |
A |
G |
17: 25,374,359 (GRCm39) |
T467A |
probably damaging |
Het |
| Col17a1 |
A |
T |
19: 47,654,979 (GRCm39) |
I599N |
possibly damaging |
Het |
| Cul2 |
T |
A |
18: 3,429,593 (GRCm39) |
H547Q |
probably damaging |
Het |
| Cxcl14 |
T |
C |
13: 56,440,320 (GRCm39) |
T80A |
probably damaging |
Het |
| Dscaml1 |
T |
A |
9: 45,581,401 (GRCm39) |
Y407N |
probably damaging |
Het |
| Edc4 |
T |
A |
8: 106,611,748 (GRCm39) |
I108N |
probably damaging |
Het |
| Exoc2 |
T |
C |
13: 31,124,720 (GRCm39) |
|
probably benign |
Het |
| Gm1110 |
T |
G |
9: 26,807,916 (GRCm39) |
H290P |
probably benign |
Het |
| Gm16223 |
T |
A |
5: 42,225,336 (GRCm39) |
W12R |
unknown |
Het |
| Herc2 |
C |
A |
7: 55,878,317 (GRCm39) |
H4623Q |
probably damaging |
Het |
| Igkv18-36 |
A |
T |
6: 69,969,589 (GRCm39) |
H68Q |
possibly damaging |
Het |
| Kif7 |
T |
C |
7: 79,357,301 (GRCm39) |
E635G |
probably benign |
Het |
| Or2t47 |
T |
C |
11: 58,442,388 (GRCm39) |
K226E |
probably benign |
Het |
| Or4c109 |
A |
T |
2: 88,817,931 (GRCm39) |
I205N |
possibly damaging |
Het |
| Or52z13 |
T |
A |
7: 103,246,574 (GRCm39) |
M17K |
possibly damaging |
Het |
| Or9m1b |
A |
T |
2: 87,836,239 (GRCm39) |
N285K |
probably damaging |
Het |
| Pam |
C |
A |
1: 97,792,054 (GRCm39) |
A456S |
probably benign |
Het |
| Pgap3 |
T |
C |
11: 98,289,764 (GRCm39) |
T76A |
possibly damaging |
Het |
| Pkd2 |
C |
A |
5: 104,637,215 (GRCm39) |
Y609* |
probably null |
Het |
| Plcg2 |
A |
G |
8: 118,310,234 (GRCm39) |
D362G |
probably damaging |
Het |
| Polr3h |
C |
A |
15: 81,801,595 (GRCm39) |
A94S |
probably benign |
Het |
| Rhod |
T |
C |
19: 4,482,186 (GRCm39) |
D76G |
probably damaging |
Het |
| Rims2 |
T |
C |
15: 39,320,129 (GRCm39) |
V670A |
probably damaging |
Het |
| Rpap3 |
G |
A |
15: 97,579,620 (GRCm39) |
T464M |
possibly damaging |
Het |
| Rufy1 |
T |
A |
11: 50,297,310 (GRCm39) |
I381L |
probably benign |
Het |
| Slc9b1 |
T |
C |
3: 135,100,670 (GRCm39) |
S472P |
probably damaging |
Het |
| Tmtc3 |
T |
C |
10: 100,287,294 (GRCm39) |
T501A |
possibly damaging |
Het |
| Tnpo3 |
C |
A |
6: 29,555,181 (GRCm39) |
D801Y |
probably damaging |
Het |
| Ttc39b |
T |
C |
4: 83,179,193 (GRCm39) |
Y111C |
probably damaging |
Het |
| Ubr4 |
A |
T |
4: 139,127,240 (GRCm39) |
R543* |
probably null |
Het |
| Vmn1r74 |
T |
G |
7: 11,581,240 (GRCm39) |
L180R |
probably damaging |
Het |
| Vps45 |
T |
G |
3: 95,960,401 (GRCm39) |
E80A |
probably benign |
Het |
| Zfp677 |
T |
C |
17: 21,617,107 (GRCm39) |
Y55H |
probably damaging |
Het |
| Zng1 |
A |
G |
19: 24,900,130 (GRCm39) |
V289A |
probably benign |
Het |
|
| Other mutations in Slc1a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01141:Slc1a4
|
APN |
11 |
20,258,644 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation