Incidental Mutation 'IGL00763:Slc38a8'
| ID |
14093 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc38a8
|
| Ensembl Gene |
ENSMUSG00000034224 |
| Gene Name |
solute carrier family 38, member 8 |
| Synonyms |
LOC234788 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL00763
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
120206341-120228437 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120220958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 200
(I200M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036748]
[ENSMUST00000133821]
[ENSMUST00000138061]
|
| AlphaFold |
Q5HZH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036748
AA Change: I200M
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000038438
Gene: ENSMUSG00000034224
AA Change: I200M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
22 |
429 |
3.7e-58 |
PFAM |
|
Pfam:Trp_Tyr_perm
|
23 |
264 |
1.1e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125594
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132838
|
| SMART Domains |
Protein: ENSMUSP00000121251
Gene: ENSMUSG00000034224
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
39 |
289 |
1.1e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133821
|
| SMART Domains |
Protein: ENSMUSP00000123094
Gene: ENSMUSG00000034224
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Trp_Tyr_perm
|
22 |
163 |
2.1e-10 |
PFAM |
|
Pfam:Aa_trans
|
22 |
165 |
3.5e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138061
AA Change: I200M
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000119987
Gene: ENSMUSG00000034224
AA Change: I200M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
22 |
202 |
2.2e-25 |
PFAM |
|
Pfam:Trp_Tyr_perm
|
23 |
196 |
1.2e-9 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein is a member of the SLC38 sodium-coupled neutral amino acid transporter family of proteins. Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis. [provided by RefSeq, May 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bmp3 |
A |
C |
5: 99,020,238 (GRCm39) |
R220S |
possibly damaging |
Het |
| Bms1 |
A |
G |
6: 118,395,363 (GRCm39) |
|
probably benign |
Het |
| Ccdc138 |
T |
A |
10: 58,411,537 (GRCm39) |
F635Y |
probably damaging |
Het |
| Ccdc81 |
T |
C |
7: 89,518,823 (GRCm39) |
|
probably benign |
Het |
| Cntnap5a |
T |
C |
1: 116,045,407 (GRCm39) |
I341T |
possibly damaging |
Het |
| Cog5 |
C |
T |
12: 31,715,531 (GRCm39) |
|
probably benign |
Het |
| Dcaf4 |
G |
A |
12: 83,586,107 (GRCm39) |
R358H |
probably damaging |
Het |
| Ddx10 |
A |
C |
9: 53,071,326 (GRCm39) |
|
probably benign |
Het |
| Fgf15 |
T |
A |
7: 144,453,629 (GRCm39) |
F201I |
probably damaging |
Het |
| Galp |
A |
G |
7: 6,211,499 (GRCm39) |
Y40C |
probably damaging |
Het |
| Ints6 |
A |
G |
14: 62,938,314 (GRCm39) |
|
probably benign |
Het |
| Iqcb1 |
A |
T |
16: 36,676,649 (GRCm39) |
|
probably benign |
Het |
| Kif19a |
G |
A |
11: 114,657,994 (GRCm39) |
V18I |
probably benign |
Het |
| Lypd8l |
T |
G |
11: 58,503,707 (GRCm39) |
|
probably benign |
Het |
| Morc1 |
A |
C |
16: 48,432,689 (GRCm39) |
Q719P |
probably damaging |
Het |
| Pla2g4a |
T |
C |
1: 149,727,076 (GRCm39) |
D568G |
probably damaging |
Het |
| Plscr4 |
A |
G |
9: 92,366,998 (GRCm39) |
E204G |
probably null |
Het |
| Rasgrf1 |
A |
G |
9: 89,853,073 (GRCm39) |
T403A |
probably benign |
Het |
| Sec16b |
A |
G |
1: 157,356,827 (GRCm39) |
T12A |
probably benign |
Het |
| Slc12a7 |
A |
T |
13: 73,942,201 (GRCm39) |
N359I |
possibly damaging |
Het |
| Slc14a2 |
G |
T |
18: 78,235,453 (GRCm39) |
D241E |
probably damaging |
Het |
| Slc23a2 |
G |
T |
2: 131,943,420 (GRCm39) |
A27E |
probably benign |
Het |
| Thrap3 |
C |
T |
4: 126,059,371 (GRCm39) |
G892S |
probably benign |
Het |
| Tmc6 |
A |
G |
11: 117,669,872 (GRCm39) |
L20P |
probably damaging |
Het |
| Tnfsfm13 |
T |
C |
11: 69,575,536 (GRCm39) |
D256G |
probably benign |
Het |
| Tonsl |
C |
T |
15: 76,518,068 (GRCm39) |
A605T |
probably damaging |
Het |
| Usp28 |
A |
G |
9: 48,939,463 (GRCm39) |
T240A |
probably benign |
Het |
| Zap70 |
A |
T |
1: 36,818,333 (GRCm39) |
D340V |
possibly damaging |
Het |
| Zfp512b |
A |
T |
2: 181,231,944 (GRCm39) |
F100I |
probably damaging |
Het |
|
| Other mutations in Slc38a8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02167:Slc38a8
|
APN |
8 |
120,214,099 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02565:Slc38a8
|
APN |
8 |
120,212,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02899:Slc38a8
|
APN |
8 |
120,212,282 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL03177:Slc38a8
|
APN |
8 |
120,212,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03282:Slc38a8
|
APN |
8 |
120,226,455 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1109:Slc38a8
|
UTSW |
8 |
120,209,394 (GRCm39) |
missense |
probably benign |
|
|
R1116:Slc38a8
|
UTSW |
8 |
120,222,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2247:Slc38a8
|
UTSW |
8 |
120,212,389 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4964:Slc38a8
|
UTSW |
8 |
120,209,423 (GRCm39) |
splice site |
probably null |
|
|
R5294:Slc38a8
|
UTSW |
8 |
120,221,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5303:Slc38a8
|
UTSW |
8 |
120,212,780 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5430:Slc38a8
|
UTSW |
8 |
120,220,959 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5643:Slc38a8
|
UTSW |
8 |
120,207,488 (GRCm39) |
makesense |
probably null |
|
|
R6016:Slc38a8
|
UTSW |
8 |
120,221,044 (GRCm39) |
splice site |
probably null |
|
|
R7346:Slc38a8
|
UTSW |
8 |
120,226,554 (GRCm39) |
nonsense |
probably null |
|
|
R7425:Slc38a8
|
UTSW |
8 |
120,212,327 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7502:Slc38a8
|
UTSW |
8 |
120,227,820 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8081:Slc38a8
|
UTSW |
8 |
120,212,269 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9083:Slc38a8
|
UTSW |
8 |
120,212,780 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9109:Slc38a8
|
UTSW |
8 |
120,212,851 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9298:Slc38a8
|
UTSW |
8 |
120,212,851 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9472:Slc38a8
|
UTSW |
8 |
120,227,888 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9595:Slc38a8
|
UTSW |
8 |
120,209,403 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation