Incidental Mutation 'IGL00974:Slc38a4'
| ID |
29100 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc38a4
|
| Ensembl Gene |
ENSMUSG00000022464 |
| Gene Name |
solute carrier family 38, member 4 |
| Synonyms |
Ata3, SNAT4, 1700012A18Rik, 1110012E16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
IGL00974
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
96892701-96953837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96897397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 473
(T473A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155158
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023101]
[ENSMUST00000166223]
[ENSMUST00000230086]
[ENSMUST00000231039]
|
| AlphaFold |
Q8R1S9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023101
AA Change: T473A
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000023101
Gene: ENSMUSG00000022464
AA Change: T473A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
73 |
263 |
4.9e-38 |
PFAM |
|
Pfam:Aa_trans
|
302 |
535 |
2.1e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166223
AA Change: T473A
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000127676
Gene: ENSMUSG00000022464
AA Change: T473A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
73 |
262 |
2.5e-38 |
PFAM |
|
Pfam:Aa_trans
|
303 |
535 |
2.5e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230086
AA Change: T473A
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231039
AA Change: T473A
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC38A4 is found predominantly in liver and transports both cationic and neutral amino acids. The transport of cationic amino acids by SLC38A4 is Na(+) and pH independent, while the transport of neutral amino acids is Na(+) and pH dependent (Hatanaka et al., 2001 [PubMed 11342143]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brwd1 |
T |
A |
16: 95,844,226 (GRCm39) |
K776M |
probably damaging |
Het |
| Crisp4 |
T |
C |
1: 18,198,871 (GRCm39) |
T188A |
probably damaging |
Het |
| E130311K13Rik |
T |
A |
3: 63,827,784 (GRCm39) |
|
probably null |
Het |
| Fyb1 |
A |
G |
15: 6,672,066 (GRCm39) |
|
probably benign |
Het |
| Gcn1 |
G |
A |
5: 115,751,852 (GRCm39) |
V2076M |
possibly damaging |
Het |
| Grik5 |
A |
T |
7: 24,713,310 (GRCm39) |
I766N |
probably damaging |
Het |
| Grk3 |
A |
G |
5: 113,133,685 (GRCm39) |
Y46H |
probably damaging |
Het |
| Gtf2a1l |
A |
G |
17: 89,022,377 (GRCm39) |
D456G |
probably damaging |
Het |
| Kcna10 |
A |
G |
3: 107,102,647 (GRCm39) |
D426G |
probably damaging |
Het |
| Luzp2 |
A |
T |
7: 54,724,774 (GRCm39) |
I112F |
probably damaging |
Het |
| Med12l |
G |
T |
3: 58,990,435 (GRCm39) |
R519M |
probably damaging |
Het |
| Mrpl39 |
G |
A |
16: 84,520,740 (GRCm39) |
P300S |
probably damaging |
Het |
| Polr3a |
A |
T |
14: 24,529,492 (GRCm39) |
I328N |
probably benign |
Het |
| Slc22a8 |
A |
G |
19: 8,587,290 (GRCm39) |
N450S |
probably damaging |
Het |
| Slc4a7 |
C |
T |
14: 14,760,292 (GRCm38) |
P576S |
probably benign |
Het |
| Tecta |
A |
G |
9: 42,242,670 (GRCm39) |
I2057T |
probably benign |
Het |
| Tnks1bp1 |
C |
T |
2: 84,893,226 (GRCm39) |
T389I |
possibly damaging |
Het |
| Tnxb |
T |
C |
17: 34,937,707 (GRCm39) |
|
probably null |
Het |
| Tsc22d1 |
A |
G |
14: 76,743,882 (GRCm39) |
Y10C |
probably damaging |
Het |
| Vmn1r34 |
T |
C |
6: 66,614,639 (GRCm39) |
H33R |
possibly damaging |
Het |
| Vmn2r102 |
G |
T |
17: 19,897,771 (GRCm39) |
W262L |
possibly damaging |
Het |
|
| Other mutations in Slc38a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Slc38a4
|
APN |
15 |
96,917,690 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00229:Slc38a4
|
APN |
15 |
96,897,375 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01951:Slc38a4
|
APN |
15 |
96,917,644 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0012:Slc38a4
|
UTSW |
15 |
96,897,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0012:Slc38a4
|
UTSW |
15 |
96,897,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0165:Slc38a4
|
UTSW |
15 |
96,906,830 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0304:Slc38a4
|
UTSW |
15 |
96,906,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0543:Slc38a4
|
UTSW |
15 |
96,914,720 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0973:Slc38a4
|
UTSW |
15 |
96,903,739 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0973:Slc38a4
|
UTSW |
15 |
96,903,739 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0974:Slc38a4
|
UTSW |
15 |
96,903,739 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1340:Slc38a4
|
UTSW |
15 |
96,908,153 (GRCm39) |
splice site |
probably benign |
|
|
R1973:Slc38a4
|
UTSW |
15 |
96,897,478 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2058:Slc38a4
|
UTSW |
15 |
96,906,606 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2083:Slc38a4
|
UTSW |
15 |
96,906,874 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2108:Slc38a4
|
UTSW |
15 |
96,906,878 (GRCm39) |
missense |
probably benign |
|
|
R3908:Slc38a4
|
UTSW |
15 |
96,910,875 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4037:Slc38a4
|
UTSW |
15 |
96,894,923 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4259:Slc38a4
|
UTSW |
15 |
96,896,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4260:Slc38a4
|
UTSW |
15 |
96,896,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4261:Slc38a4
|
UTSW |
15 |
96,896,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4370:Slc38a4
|
UTSW |
15 |
96,906,965 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4435:Slc38a4
|
UTSW |
15 |
96,906,899 (GRCm39) |
missense |
probably benign |
|
|
R5289:Slc38a4
|
UTSW |
15 |
96,908,229 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5638:Slc38a4
|
UTSW |
15 |
96,910,871 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5893:Slc38a4
|
UTSW |
15 |
96,897,432 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7059:Slc38a4
|
UTSW |
15 |
96,906,895 (GRCm39) |
nonsense |
probably null |
|
|
R7223:Slc38a4
|
UTSW |
15 |
96,908,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7267:Slc38a4
|
UTSW |
15 |
96,903,781 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7768:Slc38a4
|
UTSW |
15 |
96,906,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7903:Slc38a4
|
UTSW |
15 |
96,906,809 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8314:Slc38a4
|
UTSW |
15 |
96,908,190 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8385:Slc38a4
|
UTSW |
15 |
96,897,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8822:Slc38a4
|
UTSW |
15 |
96,906,952 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8955:Slc38a4
|
UTSW |
15 |
96,914,662 (GRCm39) |
missense |
probably benign |
|
|
R8962:Slc38a4
|
UTSW |
15 |
96,917,684 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9000:Slc38a4
|
UTSW |
15 |
96,897,475 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9043:Slc38a4
|
UTSW |
15 |
96,906,805 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9760:Slc38a4
|
UTSW |
15 |
96,896,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9786:Slc38a4
|
UTSW |
15 |
96,906,378 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-04-17 |
Incidental Mutation