Incidental Mutation 'IGL01790:Slc43a2'
| ID |
155193 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc43a2
|
| Ensembl Gene |
ENSMUSG00000038178 |
| Gene Name |
solute carrier family 43, member 2 |
| Synonyms |
7630402D21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.791)
|
| Stock # |
IGL01790
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
75422520-75468401 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 75436577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042561]
[ENSMUST00000108433]
[ENSMUST00000127226]
[ENSMUST00000143035]
[ENSMUST00000149727]
[ENSMUST00000169547]
|
| AlphaFold |
Q8CGA3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000042561
|
| SMART Domains |
Protein: ENSMUSP00000046074
Gene: ENSMUSG00000038178
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
39 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
58 |
393 |
2.9e-15 |
PFAM |
|
transmembrane domain
|
426 |
448 |
N/A |
INTRINSIC |
|
transmembrane domain
|
453 |
475 |
N/A |
INTRINSIC |
|
transmembrane domain
|
482 |
504 |
N/A |
INTRINSIC |
|
transmembrane domain
|
514 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
538 |
550 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108433
|
| SMART Domains |
Protein: ENSMUSP00000104071
Gene: ENSMUSG00000038178
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
39 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
58 |
393 |
2.4e-15 |
PFAM |
|
transmembrane domain
|
426 |
448 |
N/A |
INTRINSIC |
|
transmembrane domain
|
453 |
475 |
N/A |
INTRINSIC |
|
transmembrane domain
|
482 |
504 |
N/A |
INTRINSIC |
|
transmembrane domain
|
514 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
538 |
550 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000127226
|
| SMART Domains |
Protein: ENSMUSP00000117264
Gene: ENSMUSG00000038178
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
87 |
109 |
N/A |
INTRINSIC |
|
transmembrane domain
|
118 |
137 |
N/A |
INTRINSIC |
|
transmembrane domain
|
147 |
166 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000143035
|
| SMART Domains |
Protein: ENSMUSP00000123101
Gene: ENSMUSG00000038178
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
87 |
109 |
N/A |
INTRINSIC |
|
transmembrane domain
|
118 |
137 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149727
|
| SMART Domains |
Protein: ENSMUSP00000116255
Gene: ENSMUSG00000038178
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152775
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169547
|
| SMART Domains |
Protein: ENSMUSP00000126838
Gene: ENSMUSG00000038178
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
39 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
58 |
393 |
2.4e-15 |
PFAM |
|
transmembrane domain
|
426 |
448 |
N/A |
INTRINSIC |
|
transmembrane domain
|
453 |
475 |
N/A |
INTRINSIC |
|
transmembrane domain
|
482 |
504 |
N/A |
INTRINSIC |
|
transmembrane domain
|
514 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
538 |
550 |
N/A |
INTRINSIC |
|
| 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 member of the L-amino acid transporter-3 or SLC43 family of transporters. The encoded protein mediates sodium-, chloride-, and pH-independent transport of L-isomers of neutral amino acids, including leucine, phenylalanine, valine and methionine. This protein may contribute to the transfer of amino acids across the placental membrane to the fetus. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a knock-out allele display fetal growth retardation, abnormal placental amino acid transport, slow postnatal weight gain, malnutrition and postnatal lethality, likely as a result of impaired intestinal amino acid absorption. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(8) : Targeted, knock-out(1) Gene trapped(7)
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Astn1 |
T |
C |
1: 158,407,897 (GRCm39) |
I618T |
possibly damaging |
Het |
| Bod1l |
T |
C |
5: 41,989,593 (GRCm39) |
S377G |
probably benign |
Het |
| Disp2 |
A |
T |
2: 118,621,361 (GRCm39) |
S698C |
probably damaging |
Het |
| Ehbp1l1 |
A |
G |
19: 5,773,012 (GRCm39) |
V43A |
probably damaging |
Het |
| Eml5 |
G |
T |
12: 98,765,191 (GRCm39) |
T1539K |
probably damaging |
Het |
| Fmnl2 |
T |
C |
2: 53,008,380 (GRCm39) |
I824T |
probably damaging |
Het |
| Gpr75 |
T |
G |
11: 30,841,132 (GRCm39) |
N12K |
probably damaging |
Het |
| Hap1 |
C |
T |
11: 100,242,732 (GRCm39) |
|
probably null |
Het |
| Helz2 |
A |
C |
2: 180,880,274 (GRCm39) |
Y481D |
probably benign |
Het |
| Klhl3 |
T |
C |
13: 58,157,236 (GRCm39) |
|
probably null |
Het |
| Lrcol1 |
A |
G |
5: 110,502,073 (GRCm39) |
S49G |
probably damaging |
Het |
| Magi3 |
A |
G |
3: 103,992,560 (GRCm39) |
M304T |
probably damaging |
Het |
| Med13l |
T |
C |
5: 118,731,587 (GRCm39) |
W88R |
probably damaging |
Het |
| Nfatc1 |
A |
G |
18: 80,710,257 (GRCm39) |
V503A |
probably damaging |
Het |
| Ntm |
C |
A |
9: 29,322,886 (GRCm39) |
V45L |
probably benign |
Het |
| Or4c100 |
A |
G |
2: 88,356,767 (GRCm39) |
N280S |
probably damaging |
Het |
| Or4f60 |
T |
A |
2: 111,902,266 (GRCm39) |
I221L |
probably benign |
Het |
| Or4p22 |
T |
A |
2: 88,317,270 (GRCm39) |
S65T |
possibly damaging |
Het |
| Or5b116 |
A |
G |
19: 13,422,526 (GRCm39) |
D50G |
probably damaging |
Het |
| Or7a40 |
T |
C |
16: 16,490,967 (GRCm39) |
R293G |
probably damaging |
Het |
| Pias4 |
T |
C |
10: 80,993,332 (GRCm39) |
Q197R |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,628,895 (GRCm39) |
H684L |
probably damaging |
Het |
| Prr5 |
A |
C |
15: 84,651,415 (GRCm39) |
I288L |
possibly damaging |
Het |
| Psmb3 |
T |
A |
11: 97,603,336 (GRCm39) |
M183K |
probably damaging |
Het |
| Rasal1 |
T |
C |
5: 120,808,383 (GRCm39) |
F472L |
possibly damaging |
Het |
| Rpl3 |
A |
T |
15: 79,964,061 (GRCm39) |
|
probably benign |
Het |
| Scin |
A |
T |
12: 40,113,256 (GRCm39) |
D538E |
probably benign |
Het |
| Sdhb |
T |
C |
4: 140,701,038 (GRCm39) |
S165P |
probably benign |
Het |
| Sparc |
C |
T |
11: 55,298,041 (GRCm39) |
|
probably null |
Het |
| Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
| Tcf25 |
A |
G |
8: 124,119,975 (GRCm39) |
E382G |
possibly damaging |
Het |
| Tmx3 |
G |
A |
18: 90,529,458 (GRCm39) |
|
probably null |
Het |
| Trim24 |
C |
T |
6: 37,922,548 (GRCm39) |
P452S |
probably benign |
Het |
| Vsig10 |
T |
A |
5: 117,476,379 (GRCm39) |
W278R |
probably damaging |
Het |
|
| Other mutations in Slc43a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03009:Slc43a2
|
APN |
11 |
75,463,202 (GRCm39) |
missense |
probably benign |
|
|
IGL03145:Slc43a2
|
APN |
11 |
75,459,263 (GRCm39) |
missense |
probably benign |
0.27 |
|
1mM(1):Slc43a2
|
UTSW |
11 |
75,457,822 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0051:Slc43a2
|
UTSW |
11 |
75,453,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0051:Slc43a2
|
UTSW |
11 |
75,453,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0133:Slc43a2
|
UTSW |
11 |
75,454,403 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0443:Slc43a2
|
UTSW |
11 |
75,435,493 (GRCm39) |
splice site |
probably benign |
|
|
R0841:Slc43a2
|
UTSW |
11 |
75,457,815 (GRCm39) |
nonsense |
probably null |
|
|
R1145:Slc43a2
|
UTSW |
11 |
75,457,815 (GRCm39) |
nonsense |
probably null |
|
|
R1145:Slc43a2
|
UTSW |
11 |
75,457,815 (GRCm39) |
nonsense |
probably null |
|
|
R1215:Slc43a2
|
UTSW |
11 |
75,453,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1499:Slc43a2
|
UTSW |
11 |
75,453,733 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1943:Slc43a2
|
UTSW |
11 |
75,436,567 (GRCm39) |
splice site |
probably null |
|
|
R2438:Slc43a2
|
UTSW |
11 |
75,453,957 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2512:Slc43a2
|
UTSW |
11 |
75,461,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3726:Slc43a2
|
UTSW |
11 |
75,433,980 (GRCm39) |
splice site |
probably benign |
|
|
R3804:Slc43a2
|
UTSW |
11 |
75,454,424 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4830:Slc43a2
|
UTSW |
11 |
75,434,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5650:Slc43a2
|
UTSW |
11 |
75,436,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6042:Slc43a2
|
UTSW |
11 |
75,461,433 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6171:Slc43a2
|
UTSW |
11 |
75,453,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6196:Slc43a2
|
UTSW |
11 |
75,459,206 (GRCm39) |
nonsense |
probably null |
|
|
R6264:Slc43a2
|
UTSW |
11 |
75,457,900 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6597:Slc43a2
|
UTSW |
11 |
75,462,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7681:Slc43a2
|
UTSW |
11 |
75,454,499 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7787:Slc43a2
|
UTSW |
11 |
75,453,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8174:Slc43a2
|
UTSW |
11 |
75,434,193 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8711:Slc43a2
|
UTSW |
11 |
75,457,879 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8769:Slc43a2
|
UTSW |
11 |
75,434,192 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9688:Slc43a2
|
UTSW |
11 |
75,434,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0060:Slc43a2
|
UTSW |
11 |
75,423,491 (GRCm39) |
missense |
probably null |
0.91 |
|
| Posted On |
2014-02-04 |
Incidental Mutation