Incidental Mutation 'R4037:Slc38a4'
| ID |
313770 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc38a4
|
| Ensembl Gene |
ENSMUSG00000022464 |
| Gene Name |
solute carrier family 38, member 4 |
| Synonyms |
Ata3, SNAT4, 1700012A18Rik, 1110012E16Rik |
| MMRRC Submission |
040964-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.233)
|
| Stock # |
R4037 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
96892701-96953837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 96894923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 531
(A531V)
|
| 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: A531V
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000023101
Gene: ENSMUSG00000022464
AA Change: A531V
| 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: A531V
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000127676
Gene: ENSMUSG00000022464
AA Change: A531V
| 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: A531V
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231039
AA Change: A531V
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| Meta Mutation Damage Score |
0.1238 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
93% (37/40) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
A |
G |
15: 64,597,319 (GRCm39) |
F881L |
probably benign |
Het |
| Capn6 |
A |
G |
X: 142,590,859 (GRCm39) |
W291R |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,398,033 (GRCm39) |
I776V |
probably damaging |
Het |
| Cpne5 |
C |
T |
17: 29,378,087 (GRCm39) |
R564H |
unknown |
Het |
| Crnkl1 |
T |
A |
2: 145,774,247 (GRCm39) |
D72V |
possibly damaging |
Het |
| Dcc |
A |
G |
18: 72,483,468 (GRCm39) |
L17P |
possibly damaging |
Het |
| Dhcr24 |
T |
C |
4: 106,431,075 (GRCm39) |
F255L |
probably benign |
Het |
| Eef2kmt |
A |
T |
16: 5,063,135 (GRCm39) |
V335D |
probably damaging |
Het |
| Efcc1 |
C |
T |
6: 87,708,490 (GRCm39) |
Q206* |
probably null |
Het |
| Glb1l3 |
A |
C |
9: 26,740,343 (GRCm39) |
M329R |
probably damaging |
Het |
| Gpr137c |
C |
A |
14: 45,457,687 (GRCm39) |
L80I |
probably damaging |
Het |
| Hcls1 |
A |
G |
16: 36,776,987 (GRCm39) |
T226A |
possibly damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,648,253 (GRCm39) |
T678S |
probably benign |
Het |
| Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
| Hspb8 |
A |
G |
5: 116,547,403 (GRCm39) |
V193A |
probably benign |
Het |
| Man1c1 |
C |
T |
4: 134,320,650 (GRCm39) |
D217N |
probably damaging |
Het |
| Metrn |
T |
C |
17: 26,013,984 (GRCm39) |
T281A |
probably benign |
Het |
| Mmachc |
T |
A |
4: 116,563,215 (GRCm39) |
T47S |
probably damaging |
Het |
| Ncoa6 |
G |
A |
2: 155,249,290 (GRCm39) |
S1338L |
probably damaging |
Het |
| Ogfrl1 |
T |
C |
1: 23,418,045 (GRCm39) |
|
probably benign |
Het |
| Or4a73 |
C |
T |
2: 89,421,379 (GRCm39) |
V27I |
probably benign |
Het |
| Or4c113 |
A |
G |
2: 88,885,032 (GRCm39) |
V246A |
probably damaging |
Het |
| Pax4 |
A |
G |
6: 28,443,882 (GRCm39) |
I241T |
probably benign |
Het |
| Prkaa2 |
T |
C |
4: 104,908,444 (GRCm39) |
N144D |
probably damaging |
Het |
| Rims1 |
T |
C |
1: 22,514,793 (GRCm39) |
S537G |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Ruvbl1 |
T |
A |
6: 88,450,117 (GRCm39) |
M96K |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,685,881 (GRCm39) |
I1880V |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,835,935 (GRCm39) |
N885D |
probably benign |
Het |
| Skint5 |
G |
T |
4: 113,743,011 (GRCm39) |
T352K |
unknown |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Slc36a2 |
T |
C |
11: 55,055,101 (GRCm39) |
D318G |
probably benign |
Het |
| Stat3 |
C |
T |
11: 100,783,951 (GRCm39) |
G658R |
probably damaging |
Het |
| Tnfrsf11a |
A |
G |
1: 105,755,464 (GRCm39) |
|
probably null |
Het |
| Tnk2 |
G |
T |
16: 32,489,614 (GRCm39) |
A298S |
probably damaging |
Het |
| Vmn1r218 |
T |
C |
13: 23,320,971 (GRCm39) |
V26A |
possibly damaging |
Het |
| Wipf3 |
G |
A |
6: 54,458,813 (GRCm39) |
G56D |
probably 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 |
|
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 |
|
|
R3908:Slc38a4
|
UTSW |
15 |
96,910,875 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
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'- GCCTGGGTTAAAATGTGTGC -3'
(R):5'- AGGGTCCTACATTGACTTGCC -3'
Sequencing Primer
(F):5'- TCTTCCACAAGTATCCCATGATAGAG -3'
(R):5'- CCCATGACACTGTCCTAA -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation