Incidental Mutation 'R4260:Slc38a4'
| ID |
322628 |
| 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 |
041073-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R4260 (G1)
|
| Quality Score |
141 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
96892701-96953837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 96896374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 498
(Y498H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155158
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023101]
[ENSMUST00000166223]
[ENSMUST00000230086]
[ENSMUST00000231039]
|
| AlphaFold |
Q8R1S9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023101
AA Change: Y498H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023101
Gene: ENSMUSG00000022464
AA Change: Y498H
| 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 damaging
Transcript: ENSMUST00000166223
AA Change: Y498H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127676
Gene: ENSMUSG00000022464
AA Change: Y498H
| 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 damaging
Transcript: ENSMUST00000230086
AA Change: Y498H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231039
AA Change: Y498H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.8773 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
98% (50/51) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp2 |
G |
A |
18: 80,180,742 (GRCm39) |
S52L |
possibly damaging |
Het |
| Best3 |
A |
T |
10: 116,860,131 (GRCm39) |
M464L |
probably benign |
Het |
| Ccdc83 |
T |
G |
7: 89,877,599 (GRCm39) |
D281A |
possibly damaging |
Het |
| Ccnf |
G |
A |
17: 24,445,741 (GRCm39) |
P502S |
probably damaging |
Het |
| Cd109 |
T |
A |
9: 78,543,745 (GRCm39) |
S96R |
possibly damaging |
Het |
| Cep290 |
A |
C |
10: 100,350,354 (GRCm39) |
E649D |
probably damaging |
Het |
| Cntnap5a |
G |
T |
1: 116,374,325 (GRCm39) |
A946S |
probably benign |
Het |
| Csnk2a2 |
A |
T |
8: 96,184,027 (GRCm39) |
D177E |
probably benign |
Het |
| Cyld |
T |
C |
8: 89,468,019 (GRCm39) |
S551P |
probably damaging |
Het |
| Degs1 |
A |
T |
1: 182,106,806 (GRCm39) |
I151N |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,520,883 (GRCm39) |
I1901V |
probably benign |
Het |
| Eif2ak3 |
G |
A |
6: 70,866,497 (GRCm39) |
R597H |
probably damaging |
Het |
| Epg5 |
A |
T |
18: 78,002,336 (GRCm39) |
H585L |
possibly damaging |
Het |
| Epg5 |
G |
C |
18: 78,058,914 (GRCm39) |
W1889C |
probably damaging |
Het |
| Fam220a |
G |
C |
5: 143,548,762 (GRCm39) |
R58P |
possibly damaging |
Het |
| Gemin5 |
G |
A |
11: 58,059,185 (GRCm39) |
A32V |
probably damaging |
Het |
| Gm11189 |
A |
C |
11: 53,091,703 (GRCm39) |
|
noncoding transcript |
Het |
| Grb2 |
A |
G |
11: 115,540,642 (GRCm39) |
I85T |
probably damaging |
Het |
| Herc1 |
CTGAGGACTCTTTG |
CTG |
9: 66,355,630 (GRCm39) |
|
probably null |
Het |
| Ide |
A |
C |
19: 37,306,585 (GRCm39) |
S63A |
unknown |
Het |
| Kel |
A |
T |
6: 41,663,357 (GRCm39) |
|
probably benign |
Het |
| Kifap3 |
C |
A |
1: 163,689,597 (GRCm39) |
T527K |
probably damaging |
Het |
| Klra10 |
A |
G |
6: 130,249,644 (GRCm39) |
W214R |
probably damaging |
Het |
| Luc7l3 |
A |
T |
11: 94,186,876 (GRCm39) |
|
probably benign |
Het |
| Mrpl4 |
A |
G |
9: 20,918,988 (GRCm39) |
E211G |
possibly damaging |
Het |
| Or4k39 |
T |
A |
2: 111,238,850 (GRCm39) |
|
noncoding transcript |
Het |
| Or52n5 |
A |
C |
7: 104,587,803 (GRCm39) |
E23D |
probably damaging |
Het |
| Pbld2 |
T |
C |
10: 62,860,186 (GRCm39) |
|
probably benign |
Het |
| Plcg1 |
T |
C |
2: 160,593,627 (GRCm39) |
|
probably null |
Het |
| Ppcs |
A |
G |
4: 119,279,106 (GRCm39) |
F149L |
probably damaging |
Het |
| Ptpdc1 |
A |
G |
13: 48,733,234 (GRCm39) |
M802T |
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,083,280 (GRCm39) |
F909S |
possibly damaging |
Het |
| Raph1 |
A |
T |
1: 60,542,124 (GRCm39) |
M330K |
possibly damaging |
Het |
| Rprd1a |
G |
A |
18: 24,621,352 (GRCm39) |
R276C |
possibly damaging |
Het |
| Scg3 |
A |
G |
9: 75,558,979 (GRCm39) |
Y406H |
probably damaging |
Het |
| Setdb1 |
G |
A |
3: 95,234,808 (GRCm39) |
S965F |
probably damaging |
Het |
| Sgo2b |
A |
T |
8: 64,381,330 (GRCm39) |
F501I |
probably benign |
Het |
| Slc5a4b |
A |
G |
10: 75,939,686 (GRCm39) |
L150P |
probably damaging |
Het |
| Spata17 |
T |
A |
1: 186,780,677 (GRCm39) |
T357S |
possibly damaging |
Het |
| Tmt1a |
A |
G |
15: 100,210,951 (GRCm39) |
D141G |
probably benign |
Het |
| Zap70 |
T |
A |
1: 36,818,189 (GRCm39) |
|
probably benign |
Het |
| Zfp985 |
G |
A |
4: 147,668,029 (GRCm39) |
C299Y |
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 |
|
|
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 |
|
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'- ATCCTCGGATGGTCACAGAC -3'
(R):5'- CAAGATGACCTATGGCTTAAATGTTGC -3'
Sequencing Primer
(F):5'- GGTCACAGACCCTCTCTACC -3'
(R):5'- TGGCTTAAATGTTGCTTTTAATGC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation