Incidental Mutation 'R8398:Slc1a4'
| ID |
647723 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc1a4
|
| Ensembl Gene |
ENSMUSG00000020142 |
| Gene Name |
solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 |
| Synonyms |
ASCT1 |
| MMRRC Submission |
067761-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8398 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
20252180-20282713 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20257982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 380
(D380G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105223
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004634]
[ENSMUST00000109594]
|
| AlphaFold |
O35874 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004634
AA Change: D300G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000004634
Gene: ENSMUSG00000020142
AA Change: D300G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SDF
|
1 |
397 |
2.7e-121 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109594
AA Change: D380G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105223
Gene: ENSMUSG00000020142
AA Change: D380G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SDF
|
44 |
477 |
4.2e-121 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,330,797 (GRCm39) |
D6086G |
probably damaging |
Het |
| Amh |
T |
C |
10: 80,641,394 (GRCm39) |
S105P |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,906,252 (GRCm39) |
Y256N |
probably damaging |
Het |
| Asap3 |
G |
A |
4: 135,961,704 (GRCm39) |
M271I |
probably benign |
Het |
| Bbof1 |
T |
C |
12: 84,475,188 (GRCm39) |
L459P |
probably damaging |
Het |
| Ccl21a |
T |
C |
4: 42,773,412 (GRCm39) |
T109A |
probably benign |
Het |
| Cnot6 |
C |
T |
11: 49,593,445 (GRCm39) |
R12Q |
probably damaging |
Het |
| D5Ertd579e |
G |
A |
5: 36,771,621 (GRCm39) |
Q925* |
probably null |
Het |
| Dbh |
G |
A |
2: 27,064,910 (GRCm39) |
V374M |
probably damaging |
Het |
| Dvl2 |
T |
A |
11: 69,899,128 (GRCm39) |
L462Q |
probably damaging |
Het |
| Fchsd1 |
G |
A |
18: 38,099,577 (GRCm39) |
R206C |
probably damaging |
Het |
| Gjd4 |
C |
T |
18: 9,280,326 (GRCm39) |
V251M |
possibly damaging |
Het |
| Glud1 |
A |
G |
14: 34,033,228 (GRCm39) |
D125G |
probably benign |
Het |
| Gm10428 |
T |
C |
11: 62,644,173 (GRCm39) |
I83T |
unknown |
Het |
| Gm10985 |
A |
C |
3: 53,752,674 (GRCm39) |
Y19S |
probably damaging |
Het |
| Gm3045 |
A |
G |
13: 56,577,280 (GRCm39) |
T143A |
possibly damaging |
Het |
| Heatr6 |
A |
C |
11: 83,672,164 (GRCm39) |
E1057D |
probably benign |
Het |
| Hoxa9 |
T |
C |
6: 52,201,403 (GRCm39) |
T213A |
probably damaging |
Het |
| Hsd3b5 |
T |
A |
3: 98,526,720 (GRCm39) |
D242V |
possibly damaging |
Het |
| Lama5 |
A |
G |
2: 179,838,827 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
C |
T |
2: 40,591,819 (GRCm39) |
C3827Y |
|
Het |
| Mast2 |
A |
T |
4: 116,165,946 (GRCm39) |
S1261T |
probably damaging |
Het |
| Mex3b |
T |
A |
7: 82,518,842 (GRCm39) |
F386I |
probably benign |
Het |
| Mta1 |
T |
A |
12: 113,095,242 (GRCm39) |
M465K |
possibly damaging |
Het |
| Mtmr12 |
T |
A |
15: 12,265,695 (GRCm39) |
F470L |
probably damaging |
Het |
| Myot |
A |
G |
18: 44,487,883 (GRCm39) |
N400S |
probably benign |
Het |
| Ndnf |
T |
C |
6: 65,681,362 (GRCm39) |
V547A |
probably damaging |
Het |
| Noc3l |
A |
T |
19: 38,783,554 (GRCm39) |
D607E |
probably benign |
Het |
| Or5w14 |
A |
G |
2: 87,542,175 (GRCm39) |
V25A |
probably benign |
Het |
| Pcdha11 |
G |
A |
18: 37,146,116 (GRCm39) |
G736R |
possibly damaging |
Het |
| Pcgf3 |
A |
G |
5: 108,647,509 (GRCm39) |
N205S |
probably damaging |
Het |
| Pkd1l3 |
C |
T |
8: 110,350,520 (GRCm39) |
P455L |
possibly damaging |
Het |
| Psg27 |
T |
C |
7: 18,295,837 (GRCm39) |
T203A |
probably benign |
Het |
| Ptch1 |
T |
C |
13: 63,672,939 (GRCm39) |
T889A |
probably benign |
Het |
| Sars1 |
C |
T |
3: 108,335,489 (GRCm39) |
|
probably null |
Het |
| Scrn2 |
G |
T |
11: 96,921,730 (GRCm39) |
V67L |
probably benign |
Het |
| Slc9a1 |
A |
T |
4: 133,146,814 (GRCm39) |
Q516L |
probably benign |
Het |
| Smc4 |
T |
C |
3: 68,933,184 (GRCm39) |
Y627H |
probably damaging |
Het |
| Spon2 |
G |
T |
5: 33,374,154 (GRCm39) |
H76Q |
probably damaging |
Het |
| Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
| Sppl2b |
CTGTCACA |
C |
10: 80,701,902 (GRCm39) |
|
probably null |
Het |
| Sugp1 |
A |
G |
8: 70,523,783 (GRCm39) |
Y550C |
probably damaging |
Het |
| Sun1 |
A |
G |
5: 139,222,408 (GRCm39) |
D558G |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,074,923 (GRCm39) |
E1134G |
probably damaging |
Het |
| Thbd |
C |
T |
2: 148,248,600 (GRCm39) |
V423I |
probably benign |
Het |
| V1rd19 |
C |
A |
7: 23,703,374 (GRCm39) |
S280* |
probably null |
Het |
| Zfp947 |
A |
T |
17: 22,365,102 (GRCm39) |
C191S |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAATTCTCACCAGCTCACC -3'
(R):5'- CCATACCGATGTGTTCTGGTG -3'
Sequencing Primer
(F):5'- GCTCACCTTTACAGAGGAGAC -3'
(R):5'- CATACCGATGTGTTCTGGTGTTCAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation