Incidental Mutation 'R2438:Slc43a2'
ID |
249705 |
Institutional Source |
Beutler Lab
|
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 # |
R2438 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
75422520-75468401 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 75453957 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 290
(E290V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126838
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042561]
[ENSMUST00000108433]
[ENSMUST00000169547]
|
AlphaFold |
Q8CGA3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042561
AA Change: E290V
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000046074 Gene: ENSMUSG00000038178 AA Change: E290V
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 |
possibly damaging
Transcript: ENSMUST00000108433
AA Change: E290V
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000104071 Gene: ENSMUSG00000038178 AA Change: E290V
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 |
noncoding transcript
Transcript: ENSMUST00000134112
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145901
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151891
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155981
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169547
AA Change: E290V
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000126838 Gene: ENSMUSG00000038178 AA Change: E290V
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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.6%
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap2 |
A |
G |
16: 30,936,133 (GRCm39) |
V318A |
probably damaging |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Cd8b1 |
A |
G |
6: 71,306,740 (GRCm39) |
K156E |
probably damaging |
Het |
Ckap5 |
T |
C |
2: 91,425,753 (GRCm39) |
M1262T |
possibly damaging |
Het |
Crebbp |
A |
G |
16: 3,972,722 (GRCm39) |
M324T |
possibly damaging |
Het |
Cwf19l1 |
G |
A |
19: 44,099,002 (GRCm39) |
R523C |
probably benign |
Het |
Defb21 |
A |
T |
2: 152,416,695 (GRCm39) |
Y57F |
possibly damaging |
Het |
Ebf2 |
T |
A |
14: 67,625,391 (GRCm39) |
V233D |
probably damaging |
Het |
Gfpt1 |
A |
T |
6: 87,034,727 (GRCm39) |
E175V |
probably null |
Het |
Gga1 |
T |
C |
15: 78,769,498 (GRCm39) |
F157S |
probably damaging |
Het |
Impdh2 |
A |
T |
9: 108,437,815 (GRCm39) |
D28V |
probably benign |
Het |
Itgav |
A |
G |
2: 83,606,886 (GRCm39) |
D409G |
probably damaging |
Het |
Krt5 |
T |
C |
15: 101,620,093 (GRCm39) |
N208S |
probably benign |
Het |
Matcap2 |
T |
C |
9: 22,342,979 (GRCm39) |
V291A |
probably damaging |
Het |
Myo15a |
A |
T |
11: 60,373,878 (GRCm39) |
I1242F |
probably damaging |
Het |
Myo1g |
A |
T |
11: 6,461,542 (GRCm39) |
N636K |
probably damaging |
Het |
Nrros |
T |
C |
16: 31,962,929 (GRCm39) |
|
probably null |
Het |
Nrros |
C |
T |
16: 31,963,117 (GRCm39) |
G264D |
probably benign |
Het |
Nsun4 |
A |
G |
4: 115,905,794 (GRCm39) |
V54A |
probably benign |
Het |
Or4k49 |
A |
T |
2: 111,495,096 (GRCm39) |
D175V |
probably damaging |
Het |
Or5b105 |
A |
T |
19: 13,079,785 (GRCm39) |
D294E |
probably benign |
Het |
Pilrb2 |
T |
A |
5: 137,869,175 (GRCm39) |
I142L |
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,816,734 (GRCm39) |
S596P |
probably damaging |
Het |
Sema5a |
G |
T |
15: 32,550,399 (GRCm39) |
S146I |
possibly damaging |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Zfp456 |
A |
T |
13: 67,515,073 (GRCm39) |
I211N |
probably damaging |
Het |
|
Other mutations in Slc43a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01790:Slc43a2
|
APN |
11 |
75,436,577 (GRCm39) |
splice site |
probably null |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTTAGGCATGCTCTCTGCC -3'
(R):5'- ACCCAGAGTCTCAGTCAGTG -3'
Sequencing Primer
(F):5'- GACCGGGCAGCAACCTAC -3'
(R):5'- CCAGAGTCTCAGTCAGTGATTAC -3'
|
Posted On |
2014-11-12 |