Incidental Mutation 'IGL01374:Slc3a2'
| ID |
78672 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc3a2
|
| Ensembl Gene |
ENSMUSG00000010095 |
| Gene Name |
solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 |
| Synonyms |
Ly-m10, Ly-10, Cd98, Mdu1, 4F2HC, Mgp-2hc |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01374
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
8684931-8700733 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 8690701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145892
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010239]
[ENSMUST00000170157]
[ENSMUST00000205377]
[ENSMUST00000205538]
[ENSMUST00000206560]
[ENSMUST00000206598]
[ENSMUST00000206797]
|
| AlphaFold |
P10852 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000010239
|
| SMART Domains |
Protein: ENSMUSP00000010239
Gene: ENSMUSG00000010095
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
Pfam:Alpha-amylase
|
132 |
219 |
8.2e-15 |
PFAM |
|
low complexity region
|
286 |
305 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
354 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170157
|
| SMART Domains |
Protein: ENSMUSP00000130194
Gene: ENSMUSG00000010095
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SLC3A2_N
|
79 |
157 |
9.3e-35 |
PFAM |
|
Pfam:Alpha-amylase
|
171 |
258 |
1.7e-15 |
PFAM |
|
low complexity region
|
325 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
393 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205377
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205463
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205538
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206560
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206598
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000206797
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206895
|
| 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 is a member of the solute carrier family and encodes a cell surface, transmembrane protein. The protein exists as the heavy chain of a heterodimer, covalently bound through di-sulfide bonds to one of several possible light chains. The encoded transporter plays a role in regulation of intracellular calcium levels and transports L-type amino acids. Alternatively spliced transcript variants, encoding different isoforms, have been characterized. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous mutant mice display embryonic lethality. Mice homozygous for a conditional allele activated in the intestinal epithelia exhibit resistance to decreased susceptibility to induced colitis and colitis-associated cancer. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
C |
7: 130,747,830 (GRCm39) |
H54R |
probably benign |
Het |
| Acsl6 |
T |
C |
11: 54,229,245 (GRCm39) |
V359A |
probably damaging |
Het |
| Aldh3a2 |
C |
T |
11: 61,139,828 (GRCm39) |
V435I |
probably benign |
Het |
| Atm |
A |
T |
9: 53,443,024 (GRCm39) |
S80T |
possibly damaging |
Het |
| Atp8b4 |
A |
T |
2: 126,225,577 (GRCm39) |
|
probably benign |
Het |
| Atxn1 |
T |
C |
13: 45,721,903 (GRCm39) |
|
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,250,806 (GRCm39) |
E641G |
probably damaging |
Het |
| Clpb |
T |
C |
7: 101,422,335 (GRCm39) |
V346A |
probably damaging |
Het |
| Ctnnbl1 |
T |
A |
2: 157,678,613 (GRCm39) |
|
probably null |
Het |
| Cyp2b19 |
C |
T |
7: 26,458,504 (GRCm39) |
P73L |
probably benign |
Het |
| Dcc |
T |
C |
18: 71,507,624 (GRCm39) |
Y916C |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 38,941,647 (GRCm39) |
N180S |
probably damaging |
Het |
| Foxi1 |
A |
C |
11: 34,157,984 (GRCm39) |
C14G |
probably damaging |
Het |
| Fut4 |
G |
T |
9: 14,662,786 (GRCm39) |
F169L |
probably benign |
Het |
| Grip1 |
T |
C |
10: 119,885,273 (GRCm39) |
S748P |
probably benign |
Het |
| Hnrnpr |
T |
C |
4: 136,054,729 (GRCm39) |
|
probably benign |
Het |
| Ifnz |
G |
A |
4: 88,701,578 (GRCm39) |
|
probably benign |
Het |
| Krt28 |
A |
G |
11: 99,262,294 (GRCm39) |
V232A |
probably benign |
Het |
| Lyar |
C |
A |
5: 38,385,391 (GRCm39) |
|
probably null |
Het |
| Manba |
G |
A |
3: 135,260,541 (GRCm39) |
W575* |
probably null |
Het |
| Morc3 |
T |
A |
16: 93,641,101 (GRCm39) |
D44E |
probably damaging |
Het |
| Mrc2 |
T |
A |
11: 105,238,469 (GRCm39) |
Y1205* |
probably null |
Het |
| Myh2 |
A |
T |
11: 67,068,250 (GRCm39) |
T293S |
probably benign |
Het |
| Nlrp10 |
T |
A |
7: 108,523,788 (GRCm39) |
K564I |
possibly damaging |
Het |
| Nuak1 |
A |
G |
10: 84,210,532 (GRCm39) |
S519P |
probably damaging |
Het |
| Or12k5 |
T |
C |
2: 36,894,942 (GRCm39) |
H228R |
probably benign |
Het |
| Or9m2 |
T |
C |
2: 87,820,892 (GRCm39) |
F146L |
probably benign |
Het |
| Padi2 |
T |
A |
4: 140,660,496 (GRCm39) |
N325K |
probably damaging |
Het |
| Pcdhb19 |
A |
T |
18: 37,631,042 (GRCm39) |
Y279F |
probably damaging |
Het |
| Phldb1 |
A |
G |
9: 44,607,464 (GRCm39) |
L1247P |
probably damaging |
Het |
| Rmdn3 |
A |
G |
2: 118,984,428 (GRCm39) |
V108A |
probably damaging |
Het |
| Slc22a5 |
A |
G |
11: 53,758,490 (GRCm39) |
F437L |
probably benign |
Het |
| Slc5a3 |
T |
A |
16: 91,874,006 (GRCm39) |
M21K |
probably benign |
Het |
| Spink5 |
T |
A |
18: 44,122,471 (GRCm39) |
F312Y |
possibly damaging |
Het |
| Stab1 |
T |
C |
14: 30,869,032 (GRCm39) |
Y1531C |
probably damaging |
Het |
| Tln2 |
C |
A |
9: 67,169,205 (GRCm39) |
A433S |
probably damaging |
Het |
| Usp24 |
C |
T |
4: 106,237,296 (GRCm39) |
L1076F |
possibly damaging |
Het |
| Vmn2r117 |
T |
C |
17: 23,697,356 (GRCm39) |
Y112C |
possibly damaging |
Het |
| Vmn2r16 |
C |
T |
5: 109,478,283 (GRCm39) |
L13F |
probably benign |
Het |
| Vmn2r76 |
T |
C |
7: 85,874,857 (GRCm39) |
M707V |
probably benign |
Het |
| Zmym4 |
A |
T |
4: 126,762,750 (GRCm39) |
F1358I |
probably damaging |
Het |
|
| Other mutations in Slc3a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02541:Slc3a2
|
APN |
19 |
8,685,123 (GRCm39) |
nonsense |
probably null |
|
|
Underdeveloped
|
UTSW |
19 |
8,690,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0145:Slc3a2
|
UTSW |
19 |
8,685,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1015:Slc3a2
|
UTSW |
19 |
8,685,319 (GRCm39) |
nonsense |
probably null |
|
|
R2135:Slc3a2
|
UTSW |
19 |
8,685,608 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5406:Slc3a2
|
UTSW |
19 |
8,685,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5464:Slc3a2
|
UTSW |
19 |
8,691,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5603:Slc3a2
|
UTSW |
19 |
8,691,092 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5715:Slc3a2
|
UTSW |
19 |
8,685,594 (GRCm39) |
missense |
probably benign |
|
|
R5949:Slc3a2
|
UTSW |
19 |
8,690,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6466:Slc3a2
|
UTSW |
19 |
8,686,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6594:Slc3a2
|
UTSW |
19 |
8,685,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6860:Slc3a2
|
UTSW |
19 |
8,690,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6971:Slc3a2
|
UTSW |
19 |
8,686,974 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7252:Slc3a2
|
UTSW |
19 |
8,700,521 (GRCm39) |
start gained |
probably benign |
|
|
R7915:Slc3a2
|
UTSW |
19 |
8,685,182 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9423:Slc3a2
|
UTSW |
19 |
8,690,189 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9681:Slc3a2
|
UTSW |
19 |
8,691,226 (GRCm39) |
intron |
probably benign |
|
|
R9689:Slc3a2
|
UTSW |
19 |
8,686,594 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9729:Slc3a2
|
UTSW |
19 |
8,685,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-05 |
Incidental Mutation