Incidental Mutation 'R0051:Slc43a2'
ID |
15937 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc43a2
|
Ensembl Gene |
ENSMUSG00000038178 |
Gene Name |
solute carrier family 43, member 2 |
Synonyms |
7630402D21Rik |
MMRRC Submission |
038345-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.791)
|
Stock # |
R0051 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
75422520-75468401 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 75453676 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 225
(C225R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126838
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042561]
[ENSMUST00000108433]
[ENSMUST00000169547]
|
AlphaFold |
Q8CGA3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042561
AA Change: C225R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046074 Gene: ENSMUSG00000038178 AA Change: C225R
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 damaging
Transcript: ENSMUST00000108433
AA Change: C225R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104071 Gene: ENSMUSG00000038178 AA Change: C225R
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 |
probably damaging
Transcript: ENSMUST00000169547
AA Change: C225R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126838 Gene: ENSMUSG00000038178 AA Change: C225R
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 |
|
Meta Mutation Damage Score |
0.9730 |
Coding Region Coverage |
- 1x: 88.8%
- 3x: 85.7%
- 10x: 76.8%
- 20x: 60.8%
|
Validation Efficiency |
84% (69/82) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6330444E15Rik |
A |
G |
7: 29,278,526 (GRCm39) |
|
noncoding transcript |
Het |
Ankrd11 |
C |
A |
8: 123,616,481 (GRCm39) |
C2457F |
probably damaging |
Het |
Anks3 |
G |
C |
16: 4,765,613 (GRCm39) |
T163S |
probably benign |
Het |
Cacna1d |
G |
A |
14: 29,833,052 (GRCm39) |
P908S |
probably damaging |
Het |
Ccdc146 |
C |
A |
5: 21,521,902 (GRCm39) |
R374L |
possibly damaging |
Het |
Cdc45 |
G |
T |
16: 18,613,524 (GRCm39) |
A348E |
probably damaging |
Het |
Cfap46 |
A |
G |
7: 139,255,951 (GRCm39) |
C300R |
probably damaging |
Het |
Coq2 |
T |
C |
5: 100,811,551 (GRCm39) |
N146S |
probably benign |
Het |
Dalrd3 |
T |
C |
9: 108,449,414 (GRCm39) |
V120A |
possibly damaging |
Het |
Ddx39a |
A |
G |
8: 84,447,251 (GRCm39) |
K137R |
possibly damaging |
Het |
Diaph3 |
A |
G |
14: 87,274,890 (GRCm39) |
|
probably null |
Het |
Dmbt1 |
G |
T |
7: 130,721,225 (GRCm39) |
R1668L |
possibly damaging |
Het |
Dpp7 |
A |
G |
2: 25,246,107 (GRCm39) |
Y49H |
possibly damaging |
Het |
Drd5 |
A |
G |
5: 38,477,957 (GRCm39) |
S317G |
probably benign |
Het |
Ecpas |
A |
G |
4: 58,832,729 (GRCm39) |
L877S |
probably damaging |
Het |
Ecsit |
C |
T |
9: 21,987,584 (GRCm39) |
V152I |
probably benign |
Het |
Eeig1 |
G |
A |
2: 32,448,065 (GRCm39) |
R58Q |
possibly damaging |
Het |
Fcrl6 |
A |
T |
1: 172,426,320 (GRCm39) |
L159Q |
probably benign |
Het |
Frrs1 |
T |
C |
3: 116,678,946 (GRCm39) |
|
probably benign |
Het |
Galnt14 |
C |
A |
17: 73,814,854 (GRCm39) |
R403L |
probably benign |
Het |
Hspd1 |
A |
G |
1: 55,121,205 (GRCm39) |
|
probably benign |
Het |
Klf17 |
T |
C |
4: 117,617,589 (GRCm39) |
Y256C |
probably damaging |
Het |
Mafg |
G |
T |
11: 120,520,430 (GRCm39) |
R57S |
probably damaging |
Het |
Med13l |
T |
A |
5: 118,880,720 (GRCm39) |
W1271R |
probably damaging |
Het |
Mrpl4 |
C |
A |
9: 20,918,964 (GRCm39) |
T203K |
probably damaging |
Het |
Mtrf1l |
T |
C |
10: 5,763,382 (GRCm39) |
K316E |
probably damaging |
Het |
Nbeal1 |
T |
A |
1: 60,349,422 (GRCm39) |
N2361K |
probably benign |
Het |
Ncaph2 |
T |
C |
15: 89,253,867 (GRCm39) |
S320P |
probably damaging |
Het |
Nek11 |
A |
G |
9: 105,095,738 (GRCm39) |
|
probably benign |
Het |
Ptprn |
A |
G |
1: 75,228,898 (GRCm39) |
|
probably null |
Het |
Rab37 |
T |
C |
11: 115,049,491 (GRCm39) |
L100P |
probably damaging |
Het |
Rbm26 |
A |
C |
14: 105,389,976 (GRCm39) |
V216G |
possibly damaging |
Het |
Rnf115 |
A |
G |
3: 96,692,338 (GRCm39) |
D178G |
probably damaging |
Het |
Rtel1 |
C |
T |
2: 180,992,449 (GRCm39) |
Q424* |
probably null |
Het |
Rwdd4a |
A |
G |
8: 47,990,400 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,699,420 (GRCm39) |
D890G |
probably damaging |
Het |
Serpina10 |
A |
G |
12: 103,593,156 (GRCm39) |
|
probably benign |
Het |
Slc6a9 |
T |
C |
4: 117,722,056 (GRCm39) |
F440L |
probably damaging |
Het |
Stk32b |
A |
G |
5: 37,616,940 (GRCm39) |
|
probably benign |
Het |
Syna |
A |
G |
5: 134,588,397 (GRCm39) |
L184P |
probably damaging |
Het |
Tbx10 |
T |
C |
19: 4,046,798 (GRCm39) |
|
probably null |
Het |
Tmprss7 |
T |
C |
16: 45,494,302 (GRCm39) |
N401S |
probably damaging |
Het |
Tut4 |
T |
G |
4: 108,384,201 (GRCm39) |
S1089R |
probably damaging |
Het |
Ugt2a3 |
A |
G |
5: 87,484,865 (GRCm39) |
V53A |
probably damaging |
Het |
Yeats2 |
T |
A |
16: 20,012,474 (GRCm39) |
Y557* |
probably null |
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 |
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 |
2013-01-08 |