Incidental Mutation 'R3908:Slc38a4'
| ID |
310302 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3908 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
96892701-96953837 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 96910875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155158
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023101]
[ENSMUST00000023101]
[ENSMUST00000166223]
[ENSMUST00000166223]
[ENSMUST00000230086]
[ENSMUST00000230086]
[ENSMUST00000230907]
[ENSMUST00000231039]
[ENSMUST00000231039]
|
| AlphaFold |
Q8R1S9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023101
|
| SMART Domains |
Protein: ENSMUSP00000023101
Gene: ENSMUSG00000022464
| 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 null
Transcript: ENSMUST00000023101
|
| SMART Domains |
Protein: ENSMUSP00000023101
Gene: ENSMUSG00000022464
| 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 null
Transcript: ENSMUST00000166223
|
| SMART Domains |
Protein: ENSMUSP00000127676
Gene: ENSMUSG00000022464
| 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 null
Transcript: ENSMUST00000166223
|
| SMART Domains |
Protein: ENSMUSP00000127676
Gene: ENSMUSG00000022464
| 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 null
Transcript: ENSMUST00000230086
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000230086
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000230907
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000231039
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000231039
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,067,151 (GRCm39) |
V1352A |
possibly damaging |
Het |
| Abcb7 |
G |
T |
X: 103,327,765 (GRCm39) |
Q715K |
probably benign |
Het |
| Adamts3 |
C |
A |
5: 90,009,214 (GRCm39) |
G150C |
probably damaging |
Het |
| Cacng1 |
C |
A |
11: 107,607,118 (GRCm39) |
V34L |
probably benign |
Het |
| Ddi2 |
T |
C |
4: 141,411,592 (GRCm39) |
D440G |
probably benign |
Het |
| Esp34 |
A |
G |
17: 38,870,532 (GRCm39) |
D74G |
possibly damaging |
Het |
| Fanci |
T |
C |
7: 79,083,257 (GRCm39) |
V748A |
possibly damaging |
Het |
| Fat1 |
G |
C |
8: 45,476,072 (GRCm39) |
R1706T |
probably benign |
Het |
| Hspa1a |
C |
T |
17: 35,190,703 (GRCm39) |
V67M |
probably damaging |
Het |
| Il22 |
C |
T |
10: 118,041,529 (GRCm39) |
R81* |
probably null |
Het |
| Jak2 |
T |
A |
19: 29,268,673 (GRCm39) |
L583Q |
probably damaging |
Het |
| Kcnj4 |
G |
T |
15: 79,369,946 (GRCm39) |
H11Q |
probably benign |
Het |
| Kif11 |
A |
G |
19: 37,379,169 (GRCm39) |
I287V |
probably damaging |
Het |
| Lasp1 |
G |
A |
11: 97,690,653 (GRCm39) |
V12M |
probably damaging |
Het |
| Matr3 |
C |
T |
18: 35,705,894 (GRCm39) |
P273L |
probably damaging |
Het |
| Mpp4 |
T |
A |
1: 59,188,196 (GRCm39) |
H183L |
probably damaging |
Het |
| Myh10 |
T |
C |
11: 68,661,885 (GRCm39) |
|
probably null |
Het |
| Or52h7 |
T |
C |
7: 104,213,848 (GRCm39) |
I140T |
probably benign |
Het |
| Ppp1r12b |
A |
G |
1: 134,770,470 (GRCm39) |
S617P |
probably damaging |
Het |
| Psmb1 |
T |
C |
17: 15,710,543 (GRCm39) |
Y2C |
probably damaging |
Het |
| Pwwp3a |
T |
C |
10: 80,074,150 (GRCm39) |
V401A |
probably damaging |
Het |
| Serpinb9f |
A |
G |
13: 33,511,919 (GRCm39) |
T141A |
probably damaging |
Het |
| Vmn2r9 |
C |
A |
5: 108,995,785 (GRCm39) |
A288S |
probably benign |
Het |
| Zbtb12 |
A |
T |
17: 35,115,244 (GRCm39) |
|
probably null |
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 |
|
IGL00974:Slc38a4
|
APN |
15 |
96,897,397 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGATTGTTTTCCTGTAAAGCCAACTG -3'
(R):5'- TTGTTGCTAGCGGTATACAGCTC -3'
Sequencing Primer
(F):5'- TCCTGTAAAGCCAACTGTTTTG -3'
(R):5'- CTGAGGAGCATTTCTCTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation