Incidental Mutation 'R5548:Slc38a1'
| ID |
435010 |
| Institutional Source |
Beutler Lab
|
| 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: 0.148)
|
| Stock # |
R5548 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
96469299-96540794 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 96488355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 143
(G143S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097833
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088452]
[ENSMUST00000088454]
[ENSMUST00000100262]
|
| AlphaFold |
Q8K2P7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088452
AA Change: G143S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085799
Gene: ENSMUSG00000023169
AA Change: G143S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
69 |
473 |
6.1e-82 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088454
AA Change: G143S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085801
Gene: ENSMUSG00000023169
AA Change: G143S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
69 |
473 |
5.8e-82 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100262
AA Change: G143S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097833
Gene: ENSMUSG00000023169
AA Change: G143S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
69 |
473 |
5.8e-82 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230756
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
T |
C |
10: 28,849,863 (GRCm39) |
D191G |
probably benign |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Cdh12 |
C |
T |
15: 21,492,740 (GRCm39) |
T253I |
probably damaging |
Het |
| Cox4i2 |
C |
T |
2: 152,599,011 (GRCm39) |
T56I |
possibly damaging |
Het |
| Cpsf1 |
A |
C |
15: 76,481,527 (GRCm39) |
D1141E |
possibly damaging |
Het |
| Dennd5b |
T |
C |
6: 148,920,847 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
A |
T |
6: 73,128,672 (GRCm39) |
D1194E |
probably damaging |
Het |
| Dst |
C |
A |
1: 34,228,409 (GRCm39) |
H1676N |
probably benign |
Het |
| Eif4a3l1 |
T |
C |
6: 136,306,568 (GRCm39) |
V343A |
probably damaging |
Het |
| Fitm1 |
A |
G |
14: 55,813,154 (GRCm39) |
T6A |
probably benign |
Het |
| Galnt5 |
T |
A |
2: 57,904,922 (GRCm39) |
V495E |
probably damaging |
Het |
| Gtf2h2 |
C |
A |
13: 100,617,544 (GRCm39) |
R206L |
possibly damaging |
Het |
| Heatr5a |
A |
T |
12: 52,005,734 (GRCm39) |
Y80* |
probably null |
Het |
| Il17ra |
A |
G |
6: 120,455,434 (GRCm39) |
R348G |
probably benign |
Het |
| Mmp28 |
A |
T |
11: 83,334,733 (GRCm39) |
Y340* |
probably null |
Het |
| Mrgprb8 |
A |
T |
7: 48,038,778 (GRCm39) |
T150S |
probably benign |
Het |
| Ms4a10 |
A |
T |
19: 10,945,484 (GRCm39) |
|
probably null |
Het |
| Muc5b |
A |
T |
7: 141,417,679 (GRCm39) |
I3542F |
probably benign |
Het |
| Mybbp1a |
T |
C |
11: 72,336,998 (GRCm39) |
L578P |
probably damaging |
Het |
| N4bp2l1 |
G |
A |
5: 150,496,420 (GRCm39) |
R65* |
probably null |
Het |
| Nhsl3 |
GGTG |
GGTGTG |
4: 129,117,773 (GRCm39) |
|
probably null |
Het |
| Nup188 |
T |
A |
2: 30,216,505 (GRCm39) |
Y770N |
probably damaging |
Het |
| Or8b3b |
T |
C |
9: 38,584,600 (GRCm39) |
I60V |
probably benign |
Het |
| Or8s5 |
T |
A |
15: 98,238,253 (GRCm39) |
T206S |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 30,827,381 (GRCm39) |
C1257S |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,004,942 (GRCm39) |
T1028A |
probably damaging |
Het |
| Pramel16 |
C |
T |
4: 143,676,550 (GRCm39) |
E185K |
probably benign |
Het |
| Qars1 |
C |
T |
9: 108,390,117 (GRCm39) |
P348S |
possibly damaging |
Het |
| Qrfpr |
T |
A |
3: 36,276,075 (GRCm39) |
Q105L |
possibly damaging |
Het |
| Slc10a5 |
A |
T |
3: 10,399,377 (GRCm39) |
Y428N |
probably benign |
Het |
| Slc16a5 |
A |
T |
11: 115,360,630 (GRCm39) |
Y271F |
probably benign |
Het |
| Slc1a4 |
T |
A |
11: 20,254,429 (GRCm39) |
Q479L |
possibly damaging |
Het |
| Susd1 |
G |
A |
4: 59,369,577 (GRCm39) |
T364M |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,628,587 (GRCm39) |
Y496* |
probably null |
Het |
| Tmem63b |
A |
G |
17: 45,975,884 (GRCm39) |
I523T |
probably damaging |
Het |
| Tnrc6c |
T |
C |
11: 117,651,669 (GRCm39) |
S1731P |
possibly damaging |
Het |
| Ttll3 |
T |
A |
6: 113,370,078 (GRCm39) |
W139R |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,187,401 (GRCm39) |
T3823M |
probably damaging |
Het |
| Vangl1 |
T |
A |
3: 102,091,762 (GRCm39) |
D108V |
possibly damaging |
Het |
| Vmn1r120 |
T |
C |
7: 20,787,482 (GRCm39) |
I76M |
probably benign |
Het |
| Wdr17 |
A |
G |
8: 55,156,886 (GRCm39) |
Y17H |
probably damaging |
Het |
| Xkr4 |
C |
T |
1: 3,287,153 (GRCm39) |
A346T |
probably damaging |
Het |
| Zfp267 |
C |
G |
3: 36,219,640 (GRCm39) |
H554Q |
possibly damaging |
Het |
| Zfp600 |
T |
A |
4: 146,133,019 (GRCm39) |
S562R |
possibly damaging |
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 |
|
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 |
|
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'- GACACTCGCTGTTCGGATTG -3'
(R):5'- TGAAACCTGCTTGACCAAGG -3'
Sequencing Primer
(F):5'- CGCTGTTCGGATTGCGTTAAATC -3'
(R):5'- GCACGTGACATTTAGAGTCAAGGTTC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation