Incidental Mutation 'IGL03074:Slc38a1'
| ID |
417608 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc38a1
|
| Ensembl Gene |
ENSMUSG00000023169 |
| Gene Name |
solute carrier family 38, member 1 |
| Synonyms |
SNAT1, NAT2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
IGL03074
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
96469299-96540794 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 96490405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 124
(I124N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097833
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088452]
[ENSMUST00000088454]
[ENSMUST00000100262]
|
| AlphaFold |
Q8K2P7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088452
AA Change: I124N
PolyPhen 2
Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000085799
Gene: ENSMUSG00000023169
AA Change: I124N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
69 |
473 |
6.1e-82 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088454
AA Change: I124N
PolyPhen 2
Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000085801
Gene: ENSMUSG00000023169
AA Change: I124N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
69 |
473 |
5.8e-82 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100262
AA Change: I124N
PolyPhen 2
Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000097833
Gene: ENSMUSG00000023169
AA Change: I124N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
69 |
473 |
5.8e-82 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230756
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Amino acid transporters play essential roles in the uptake of nutrients, production of energy, chemical metabolism, detoxification, and neurotransmitter cycling. SLC38A1 is an important transporter of glutamine, an intermediate in the detoxification of ammonia and the production of urea. Glutamine serves as a precursor for the synaptic transmitter, glutamate (Gu et al., 2001 [PubMed 11325958]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
A |
11: 110,201,101 (GRCm39) |
Y433F |
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Anks4b |
A |
T |
7: 119,781,140 (GRCm39) |
D57V |
probably damaging |
Het |
| Brwd1 |
A |
G |
16: 95,813,050 (GRCm39) |
V1486A |
probably benign |
Het |
| Cd163 |
A |
G |
6: 124,294,945 (GRCm39) |
T670A |
probably benign |
Het |
| Dmtf1 |
T |
C |
5: 9,174,435 (GRCm39) |
|
probably benign |
Het |
| Dnajc22 |
T |
A |
15: 98,999,403 (GRCm39) |
L196Q |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,844,682 (GRCm39) |
L1097P |
possibly damaging |
Het |
| Dtna |
T |
C |
18: 23,735,662 (GRCm39) |
V339A |
possibly damaging |
Het |
| Dysf |
T |
A |
6: 84,165,208 (GRCm39) |
S1646T |
probably benign |
Het |
| Ermp1 |
A |
T |
19: 29,589,935 (GRCm39) |
Y893N |
probably damaging |
Het |
| Etv6 |
A |
T |
6: 134,199,888 (GRCm39) |
N76I |
probably damaging |
Het |
| Farp2 |
T |
C |
1: 93,488,049 (GRCm39) |
V92A |
probably benign |
Het |
| Fgf21 |
T |
C |
7: 45,263,605 (GRCm39) |
T158A |
probably benign |
Het |
| Gcm1 |
T |
C |
9: 77,972,057 (GRCm39) |
S333P |
possibly damaging |
Het |
| Grm7 |
T |
A |
6: 111,472,604 (GRCm39) |
|
probably null |
Het |
| Itgae |
T |
C |
11: 73,016,136 (GRCm39) |
F782L |
probably benign |
Het |
| Kbtbd8 |
A |
G |
6: 95,099,333 (GRCm39) |
T204A |
probably damaging |
Het |
| Kcp |
A |
G |
6: 29,496,630 (GRCm39) |
C627R |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,529,480 (GRCm39) |
V2041A |
possibly damaging |
Het |
| Mcm5 |
T |
C |
8: 75,845,929 (GRCm39) |
M379T |
possibly damaging |
Het |
| Mcu |
A |
G |
10: 59,303,580 (GRCm39) |
S86P |
probably damaging |
Het |
| Naa25 |
T |
C |
5: 121,546,400 (GRCm39) |
|
probably null |
Het |
| Or10ag59 |
T |
A |
2: 87,405,680 (GRCm39) |
L84H |
possibly damaging |
Het |
| Or5b117 |
A |
G |
19: 13,431,417 (GRCm39) |
S155P |
probably damaging |
Het |
| Osbpl9 |
T |
C |
4: 108,929,158 (GRCm39) |
H400R |
probably damaging |
Het |
| Pip5kl1 |
A |
G |
2: 32,470,353 (GRCm39) |
N278D |
probably damaging |
Het |
| Ppp1r12b |
T |
C |
1: 134,763,758 (GRCm39) |
T759A |
probably benign |
Het |
| Psg27 |
T |
C |
7: 18,294,454 (GRCm39) |
T318A |
probably benign |
Het |
| Rtkn2 |
T |
G |
10: 67,877,551 (GRCm39) |
L537R |
probably damaging |
Het |
| Sdr39u1 |
C |
T |
14: 56,137,103 (GRCm39) |
|
probably null |
Het |
| Sumf2 |
T |
A |
5: 129,888,674 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
A |
G |
6: 12,324,680 (GRCm39) |
Y1464H |
probably damaging |
Het |
| Unc80 |
C |
T |
1: 66,710,877 (GRCm39) |
|
probably benign |
Het |
| Zfp366 |
A |
G |
13: 99,382,913 (GRCm39) |
D692G |
probably benign |
Het |
|
| Other mutations in Slc38a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00434:Slc38a1
|
APN |
15 |
96,483,504 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01376:Slc38a1
|
APN |
15 |
96,483,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01920:Slc38a1
|
APN |
15 |
96,484,778 (GRCm39) |
missense |
probably benign |
|
|
IGL01993:Slc38a1
|
APN |
15 |
96,521,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02201:Slc38a1
|
APN |
15 |
96,476,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03370:Slc38a1
|
APN |
15 |
96,477,228 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0918:Slc38a1
|
UTSW |
15 |
96,507,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1506:Slc38a1
|
UTSW |
15 |
96,483,431 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1510:Slc38a1
|
UTSW |
15 |
96,507,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1713:Slc38a1
|
UTSW |
15 |
96,476,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1721:Slc38a1
|
UTSW |
15 |
96,485,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1867:Slc38a1
|
UTSW |
15 |
96,485,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4254:Slc38a1
|
UTSW |
15 |
96,483,431 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4255:Slc38a1
|
UTSW |
15 |
96,483,431 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4754:Slc38a1
|
UTSW |
15 |
96,474,663 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5548:Slc38a1
|
UTSW |
15 |
96,488,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5610:Slc38a1
|
UTSW |
15 |
96,514,022 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6235:Slc38a1
|
UTSW |
15 |
96,476,673 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6288:Slc38a1
|
UTSW |
15 |
96,484,759 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7904:Slc38a1
|
UTSW |
15 |
96,521,921 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8195:Slc38a1
|
UTSW |
15 |
96,490,447 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8876:Slc38a1
|
UTSW |
15 |
96,514,091 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9515:Slc38a1
|
UTSW |
15 |
96,487,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9555:Slc38a1
|
UTSW |
15 |
96,486,860 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Posted On |
2016-08-02 |
Incidental Mutation