Incidental Mutation 'R4255:Slc38a1'
| ID |
371091 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc38a1
|
| Ensembl Gene |
ENSMUSG00000023169 |
| Gene Name |
solute carrier family 38, member 1 |
| Synonyms |
SNAT1, NAT2 |
| MMRRC Submission |
041068-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R4255 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
96469299-96540794 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96483431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 299
(D299G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097833
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088452]
[ENSMUST00000088454]
[ENSMUST00000100262]
|
| AlphaFold |
Q8K2P7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088452
AA Change: D299G
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000085799
Gene: ENSMUSG00000023169
AA Change: D299G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
69 |
473 |
6.1e-82 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088454
AA Change: D299G
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000085801
Gene: ENSMUSG00000023169
AA Change: D299G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
69 |
473 |
5.8e-82 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100262
AA Change: D299G
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000097833
Gene: ENSMUSG00000023169
AA Change: D299G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
69 |
473 |
5.8e-82 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230756
|
| Meta Mutation Damage Score |
0.0721 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
93% (50/54) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,136,949 (GRCm39) |
I171V |
probably benign |
Het |
| Actc1 |
T |
C |
2: 113,879,697 (GRCm39) |
N254S |
probably benign |
Het |
| Adgrg1 |
T |
G |
8: 95,732,530 (GRCm39) |
|
probably null |
Het |
| Ankrd7 |
T |
A |
6: 18,869,880 (GRCm39) |
|
probably null |
Het |
| Baz2b |
T |
C |
2: 59,750,916 (GRCm39) |
|
probably benign |
Het |
| Brca2 |
A |
G |
5: 150,464,634 (GRCm39) |
E1466G |
possibly damaging |
Het |
| Dagla |
G |
A |
19: 10,234,316 (GRCm39) |
R332* |
probably null |
Het |
| Dnah5 |
T |
A |
15: 28,438,248 (GRCm39) |
S3960T |
probably benign |
Het |
| Dnhd1 |
T |
A |
7: 105,362,205 (GRCm39) |
L3689M |
probably damaging |
Het |
| Epn1 |
T |
A |
7: 5,100,637 (GRCm39) |
L530Q |
probably damaging |
Het |
| Fgf17 |
C |
A |
14: 70,879,162 (GRCm39) |
|
probably null |
Het |
| Fgfr4 |
G |
A |
13: 55,314,064 (GRCm39) |
V593M |
probably damaging |
Het |
| Fmo4 |
A |
G |
1: 162,621,895 (GRCm39) |
C439R |
probably benign |
Het |
| Fndc3b |
T |
C |
3: 27,555,556 (GRCm39) |
K333E |
possibly damaging |
Het |
| Gpc6 |
A |
G |
14: 118,188,553 (GRCm39) |
T396A |
probably benign |
Het |
| Igkv3-2 |
T |
A |
6: 70,676,045 (GRCm39) |
V118D |
probably benign |
Het |
| Mtbp |
C |
A |
15: 55,484,081 (GRCm39) |
S470R |
possibly damaging |
Het |
| Myh8 |
A |
G |
11: 67,190,560 (GRCm39) |
D1295G |
probably benign |
Het |
| Myo1h |
T |
C |
5: 114,468,198 (GRCm39) |
I331T |
possibly damaging |
Het |
| Myo7a |
T |
G |
7: 97,721,171 (GRCm39) |
M1265L |
probably damaging |
Het |
| Or13a18 |
C |
A |
7: 140,190,500 (GRCm39) |
Y132* |
probably null |
Het |
| Or2ak7 |
A |
T |
11: 58,574,791 (GRCm39) |
I31F |
probably damaging |
Het |
| Or2o1 |
G |
A |
11: 49,051,262 (GRCm39) |
W140* |
probably null |
Het |
| Pak1ip1 |
A |
G |
13: 41,164,632 (GRCm39) |
|
probably benign |
Het |
| Pcdha11 |
A |
G |
18: 37,145,843 (GRCm39) |
T645A |
probably benign |
Het |
| Peg12 |
A |
G |
7: 62,113,479 (GRCm39) |
I206T |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,664,158 (GRCm39) |
V140A |
probably damaging |
Het |
| Pramel29 |
T |
A |
4: 143,934,054 (GRCm39) |
D351V |
possibly damaging |
Het |
| Prrc2c |
C |
A |
1: 162,533,895 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,082,241 (GRCm39) |
E70G |
probably benign |
Het |
| Rabl6 |
C |
T |
2: 25,474,791 (GRCm39) |
E640K |
possibly damaging |
Het |
| Rasd2 |
G |
A |
8: 75,948,538 (GRCm39) |
E155K |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sdf4 |
A |
G |
4: 156,085,214 (GRCm39) |
H183R |
probably benign |
Het |
| Slc12a9 |
C |
T |
5: 137,319,694 (GRCm39) |
R607H |
probably damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,112,280 (GRCm39) |
N657S |
probably benign |
Het |
| Spata31d1c |
C |
G |
13: 65,183,502 (GRCm39) |
S348* |
probably null |
Het |
| Spata31d1c |
T |
C |
13: 65,183,531 (GRCm39) |
F358L |
probably benign |
Het |
| Srbd1 |
A |
T |
17: 86,410,350 (GRCm39) |
S527R |
possibly damaging |
Het |
| Stag3 |
T |
C |
5: 138,289,143 (GRCm39) |
V243A |
probably damaging |
Het |
| Tefm |
A |
T |
11: 80,031,075 (GRCm39) |
S54T |
probably damaging |
Het |
| Terf1 |
T |
C |
1: 15,875,903 (GRCm39) |
M1T |
probably null |
Het |
| Thsd7b |
G |
A |
1: 129,688,024 (GRCm39) |
S645N |
possibly damaging |
Het |
| Trmt13 |
G |
T |
3: 116,376,337 (GRCm39) |
S285* |
probably null |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,492,040 (GRCm39) |
R3110* |
probably null |
Het |
| Vnn3 |
T |
C |
10: 23,741,720 (GRCm39) |
Y342H |
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 |
|
IGL03074:Slc38a1
|
APN |
15 |
96,490,405 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAAAGATACTACTCCCCATTCTG -3'
(R):5'- GCGGCTCATATCTGAAGACC -3'
Sequencing Primer
(F):5'- TGGAGCTTCCTTAACACAGG -3'
(R):5'- GGCTCATATCTGAAGACCATAGTC -3'
|
| Posted On |
2016-02-16 |
Incidental Mutation