Incidental Mutation 'R1015:Slc3a2'
ID |
96239 |
Institutional Source |
Beutler Lab
|
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 |
MMRRC Submission |
039119-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1015 (G1)
|
Quality Score |
158 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
8684931-8700733 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 8685319 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 227
(W227*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146016
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010239]
[ENSMUST00000170157]
[ENSMUST00000205377]
[ENSMUST00000206598]
[ENSMUST00000206797]
|
AlphaFold |
P10852 |
Predicted Effect |
probably null
Transcript: ENSMUST00000010239
AA Change: W450*
|
SMART Domains |
Protein: ENSMUSP00000010239 Gene: ENSMUSG00000010095 AA Change: W450*
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
AA Change: W489*
|
SMART Domains |
Protein: ENSMUSP00000130194 Gene: ENSMUSG00000010095 AA Change: W489*
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 benign
Transcript: ENSMUST00000205377
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205463
|
Predicted Effect |
probably null
Transcript: ENSMUST00000206598
AA Change: W227*
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206797
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.4%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap3d1 |
A |
G |
10: 80,552,323 (GRCm39) |
V615A |
probably damaging |
Het |
Atp6v1d |
A |
G |
12: 78,896,543 (GRCm39) |
V108A |
possibly damaging |
Het |
B3gnt6 |
C |
A |
7: 97,843,802 (GRCm39) |
V53L |
probably benign |
Het |
C8b |
A |
G |
4: 104,644,157 (GRCm39) |
K275E |
probably benign |
Het |
Cage1 |
T |
A |
13: 38,200,451 (GRCm39) |
N683I |
possibly damaging |
Het |
Celsr3 |
T |
C |
9: 108,710,375 (GRCm39) |
V1535A |
probably benign |
Het |
Cep120 |
C |
T |
18: 53,836,193 (GRCm39) |
|
probably null |
Het |
Cep135 |
T |
C |
5: 76,788,844 (GRCm39) |
|
probably null |
Het |
Chd9 |
T |
A |
8: 91,659,206 (GRCm39) |
H55Q |
probably damaging |
Het |
Dmxl2 |
G |
A |
9: 54,275,049 (GRCm39) |
T2915I |
probably benign |
Het |
Eps8l1 |
A |
T |
7: 4,472,932 (GRCm39) |
D118V |
probably damaging |
Het |
Ezhip |
GTCATCATCATCATC |
GTCATCATCATCATCATC |
X: 5,994,645 (GRCm39) |
|
probably benign |
Het |
Galnt2 |
C |
T |
8: 125,063,356 (GRCm39) |
H359Y |
probably benign |
Het |
Kdm5d |
T |
C |
Y: 941,687 (GRCm39) |
V1296A |
possibly damaging |
Het |
Kif27 |
T |
A |
13: 58,468,029 (GRCm39) |
K849N |
probably damaging |
Het |
Kif5c |
T |
A |
2: 49,634,377 (GRCm39) |
D736E |
probably benign |
Het |
Krt18 |
T |
C |
15: 101,939,735 (GRCm39) |
I311T |
probably benign |
Het |
Lamc2 |
A |
T |
1: 153,041,945 (GRCm39) |
V63D |
possibly damaging |
Het |
Lmbrd1 |
T |
A |
1: 24,770,959 (GRCm39) |
C295* |
probably null |
Het |
Lrrc37 |
T |
C |
11: 103,436,622 (GRCm39) |
H754R |
probably benign |
Het |
Map3k14 |
T |
A |
11: 103,116,126 (GRCm39) |
Q767H |
probably damaging |
Het |
Mapkapk5 |
T |
C |
5: 121,671,425 (GRCm39) |
K203E |
probably benign |
Het |
Mcc |
C |
A |
18: 44,857,736 (GRCm39) |
L126F |
probably benign |
Het |
Mib1 |
T |
A |
18: 10,726,409 (GRCm39) |
H35Q |
probably damaging |
Het |
Myo16 |
A |
G |
8: 10,440,183 (GRCm39) |
N412D |
probably benign |
Het |
Ndst2 |
T |
C |
14: 20,780,132 (GRCm39) |
Y36C |
probably damaging |
Het |
Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
Nwd2 |
T |
C |
5: 63,964,154 (GRCm39) |
I1246T |
probably damaging |
Het |
Or5d47 |
T |
C |
2: 87,804,431 (GRCm39) |
T193A |
probably benign |
Het |
Or5m9 |
T |
C |
2: 85,877,426 (GRCm39) |
I200T |
possibly damaging |
Het |
Patl1 |
T |
C |
19: 11,897,737 (GRCm39) |
V108A |
probably benign |
Het |
Pdzd2 |
T |
C |
15: 12,374,594 (GRCm39) |
E1847G |
probably damaging |
Het |
Pla2g2f |
C |
T |
4: 138,481,579 (GRCm39) |
V57I |
probably benign |
Het |
Prag1 |
T |
C |
8: 36,613,697 (GRCm39) |
V1083A |
probably damaging |
Het |
Snx9 |
A |
G |
17: 5,970,402 (GRCm39) |
I379M |
probably benign |
Het |
Spata31e4 |
T |
G |
13: 50,855,664 (GRCm39) |
V434G |
possibly damaging |
Het |
Tacc2 |
A |
G |
7: 130,225,795 (GRCm39) |
K846E |
probably benign |
Het |
Taf4b |
T |
A |
18: 14,946,155 (GRCm39) |
V326E |
probably damaging |
Het |
Tnrc6c |
C |
T |
11: 117,612,748 (GRCm39) |
S462F |
possibly damaging |
Het |
Trim66 |
C |
T |
7: 109,054,440 (GRCm39) |
V1257I |
probably damaging |
Het |
Urb2 |
T |
C |
8: 124,756,173 (GRCm39) |
Y627H |
probably damaging |
Het |
Usp53 |
A |
G |
3: 122,727,408 (GRCm39) |
L1058P |
probably benign |
Het |
Wdr24 |
A |
G |
17: 26,047,212 (GRCm39) |
S702G |
probably benign |
Het |
|
Other mutations in Slc3a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01374:Slc3a2
|
APN |
19 |
8,690,701 (GRCm39) |
splice site |
probably null |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGGCTCAGGTTTTCCAGCTTCAG -3'
(R):5'- AGTCCAGCATCTTTCACATCCCAAG -3'
Sequencing Primer
(F):5'- TCCAGCTTCAGGGAGGTG -3'
(R):5'- TGTAAGCCTCAACATGACAGTG -3'
|
Posted On |
2014-01-05 |