Incidental Mutation 'R1215:Slc43a2'
| ID |
99592 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc43a2
|
| Ensembl Gene |
ENSMUSG00000038178 |
| Gene Name |
solute carrier family 43, member 2 |
| Synonyms |
7630402D21Rik |
| MMRRC Submission |
039284-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.791)
|
| Stock # |
R1215 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
75422520-75468401 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75453688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 229
(W229R)
|
| 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: W229R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046074
Gene: ENSMUSG00000038178
AA Change: W229R
| 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: W229R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104071
Gene: ENSMUSG00000038178
AA Change: W229R
| 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: W229R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126838
Gene: ENSMUSG00000038178
AA Change: W229R
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.5%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Art5 |
C |
T |
7: 101,747,116 (GRCm39) |
R123H |
probably damaging |
Het |
| Azin2 |
A |
G |
4: 128,843,489 (GRCm39) |
S66P |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,239,178 (GRCm39) |
E1865G |
probably benign |
Het |
| Ces1a |
A |
G |
8: 93,759,318 (GRCm39) |
C273R |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,239,666 (GRCm39) |
Y571C |
probably damaging |
Het |
| Cntfr |
C |
A |
4: 41,662,064 (GRCm39) |
W226L |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,868,227 (GRCm39) |
|
probably null |
Het |
| Cyp2a4 |
C |
T |
7: 26,014,226 (GRCm39) |
P468S |
possibly damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| E130308A19Rik |
T |
A |
4: 59,690,743 (GRCm39) |
D192E |
probably benign |
Het |
| Fam184b |
C |
T |
5: 45,741,520 (GRCm39) |
R237H |
probably damaging |
Het |
| Fmn1 |
T |
A |
2: 113,523,375 (GRCm39) |
Y1247* |
probably null |
Het |
| Grb14 |
T |
C |
2: 64,747,608 (GRCm39) |
S18G |
probably benign |
Het |
| Hs2st1 |
G |
A |
3: 144,170,902 (GRCm39) |
T90I |
possibly damaging |
Het |
| Mcc |
A |
T |
18: 44,601,561 (GRCm39) |
N589K |
possibly damaging |
Het |
| Mff |
T |
A |
1: 82,719,609 (GRCm39) |
S196T |
probably benign |
Het |
| Nyap1 |
C |
T |
5: 137,733,395 (GRCm39) |
W546* |
probably null |
Het |
| Or13p10 |
A |
T |
4: 118,523,496 (GRCm39) |
M261L |
possibly damaging |
Het |
| Ppp2r3d |
A |
G |
9: 101,089,883 (GRCm39) |
S147P |
probably benign |
Het |
| Rsph14 |
T |
C |
10: 74,860,898 (GRCm39) |
H134R |
probably benign |
Het |
| Slc25a3 |
G |
A |
10: 90,953,170 (GRCm39) |
A274V |
possibly damaging |
Het |
| Slco4c1 |
C |
A |
1: 96,756,596 (GRCm39) |
L575F |
probably damaging |
Het |
| Smyd4 |
T |
A |
11: 75,281,121 (GRCm39) |
I198N |
possibly damaging |
Het |
| Trpm6 |
A |
G |
19: 18,773,862 (GRCm39) |
D413G |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,689,479 (GRCm39) |
T33A |
possibly damaging |
Het |
| Zfp871 |
A |
T |
17: 32,994,946 (GRCm39) |
D57E |
possibly damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,507,426 (GRCm39) |
Q1176R |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGATCACAGGGTTGAGCCTCTC -3'
(R):5'- GTCACCTGCTTGTAGAACTGCTTCC -3'
Sequencing Primer
(F):5'- TATATGGCCCAGCACAGTG -3'
(R):5'- CCTGTGATCTTGTGGTCAAAGC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation