Incidental Mutation 'R0443:Slc43a2'
ID |
39284 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc43a2
|
Ensembl Gene |
ENSMUSG00000038178 |
Gene Name |
solute carrier family 43, member 2 |
Synonyms |
7630402D21Rik |
MMRRC Submission |
038644-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.791)
|
Stock # |
R0443 (G1)
|
Quality Score |
205 |
Status
|
Validated
(trace)
|
Chromosome |
11 |
Chromosomal Location |
75422520-75468401 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 75435493 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 benign
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 benign
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 benign
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 benign
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 benign
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 95.6%
|
Validation Efficiency |
96% (52/54) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr3b |
G |
T |
5: 26,053,409 (GRCm39) |
R246L |
probably damaging |
Het |
Adam18 |
T |
C |
8: 25,119,653 (GRCm39) |
|
probably null |
Het |
Ankhd1 |
A |
G |
18: 36,777,652 (GRCm39) |
S1612G |
possibly damaging |
Het |
Caskin1 |
C |
T |
17: 24,724,374 (GRCm39) |
A1054V |
probably damaging |
Het |
Casz1 |
T |
C |
4: 149,033,368 (GRCm39) |
V1380A |
possibly damaging |
Het |
Ccn2 |
T |
C |
10: 24,471,701 (GRCm39) |
|
probably benign |
Het |
Cnot6l |
T |
G |
5: 96,239,604 (GRCm39) |
|
probably benign |
Het |
Crat |
T |
C |
2: 30,293,640 (GRCm39) |
|
probably benign |
Het |
Cux2 |
C |
T |
5: 122,025,500 (GRCm39) |
R56H |
possibly damaging |
Het |
Dst |
A |
G |
1: 34,333,631 (GRCm39) |
|
probably null |
Het |
Dync2h1 |
G |
T |
9: 7,167,244 (GRCm39) |
|
probably null |
Het |
Epg5 |
T |
C |
18: 77,999,118 (GRCm39) |
|
probably benign |
Het |
Ergic3 |
G |
A |
2: 155,858,707 (GRCm39) |
V278M |
probably benign |
Het |
Fam20b |
A |
T |
1: 156,509,023 (GRCm39) |
D396E |
probably benign |
Het |
Gapvd1 |
A |
G |
2: 34,594,633 (GRCm39) |
|
probably benign |
Het |
Golga1 |
A |
T |
2: 38,908,453 (GRCm39) |
S749T |
probably damaging |
Het |
Gsdma2 |
C |
T |
11: 98,548,514 (GRCm39) |
T255I |
probably damaging |
Het |
Itga1 |
T |
A |
13: 115,128,996 (GRCm39) |
D554V |
probably benign |
Het |
Itgam |
C |
T |
7: 127,680,806 (GRCm39) |
A245V |
probably damaging |
Het |
Kcnk15 |
A |
G |
2: 163,700,243 (GRCm39) |
T161A |
probably benign |
Het |
Map3k19 |
A |
T |
1: 127,750,152 (GRCm39) |
N1066K |
probably benign |
Het |
Ms4a6b |
A |
G |
19: 11,499,044 (GRCm39) |
I53V |
possibly damaging |
Het |
Mtf1 |
C |
T |
4: 124,718,075 (GRCm39) |
|
probably benign |
Het |
Neb |
T |
C |
2: 52,051,489 (GRCm39) |
|
probably null |
Het |
Nop9 |
A |
G |
14: 55,991,205 (GRCm39) |
S621G |
probably benign |
Het |
Or1e19 |
A |
G |
11: 73,316,581 (GRCm39) |
V76A |
probably damaging |
Het |
Or5p60 |
A |
G |
7: 107,724,023 (GRCm39) |
V149A |
probably benign |
Het |
Or9a2 |
T |
A |
6: 41,748,829 (GRCm39) |
I135F |
possibly damaging |
Het |
Pacs1 |
A |
T |
19: 5,322,611 (GRCm39) |
Y102* |
probably null |
Het |
Pcdhb10 |
A |
C |
18: 37,545,485 (GRCm39) |
D187A |
probably damaging |
Het |
Pih1d2 |
A |
G |
9: 50,532,403 (GRCm39) |
R170G |
possibly damaging |
Het |
Pikfyve |
A |
G |
1: 65,235,865 (GRCm39) |
H179R |
probably damaging |
Het |
Pknox1 |
A |
G |
17: 31,811,193 (GRCm39) |
S156G |
probably damaging |
Het |
Prkcz |
T |
A |
4: 155,353,597 (GRCm39) |
D250V |
probably damaging |
Het |
Psg16 |
T |
A |
7: 16,829,088 (GRCm39) |
I224N |
probably benign |
Het |
Ro60 |
A |
G |
1: 143,641,661 (GRCm39) |
|
probably benign |
Het |
Slc25a40 |
T |
A |
5: 8,497,348 (GRCm39) |
S229T |
probably benign |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Tas2r129 |
G |
T |
6: 132,928,159 (GRCm39) |
C32F |
probably benign |
Het |
Tfap2d |
C |
T |
1: 19,174,591 (GRCm39) |
R15C |
possibly damaging |
Het |
Tonsl |
T |
C |
15: 76,523,884 (GRCm39) |
S39G |
probably benign |
Het |
Trpc2 |
A |
G |
7: 101,742,727 (GRCm39) |
|
probably benign |
Het |
Ttc17 |
A |
G |
2: 94,208,439 (GRCm39) |
F144S |
probably benign |
Het |
Twnk |
G |
T |
19: 44,996,578 (GRCm39) |
G337V |
possibly damaging |
Het |
Uvssa |
A |
G |
5: 33,546,168 (GRCm39) |
R180G |
possibly damaging |
Het |
Vmn1r197 |
T |
A |
13: 22,512,241 (GRCm39) |
I54K |
possibly damaging |
Het |
Vmn1r71 |
G |
A |
7: 10,482,238 (GRCm39) |
T84I |
probably benign |
Het |
Zbtb49 |
T |
C |
5: 38,358,174 (GRCm39) |
E693G |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCCTAATAGATGGCATCCTCCTG -3'
(R):5'- ATAGCCGCCCACGAGATTAGTGAC -3'
Sequencing Primer
(F):5'- GGCATCCTCCTGCGTCATC -3'
(R):5'- TTCTGACTTAAACGGGCGAC -3'
|
Posted On |
2013-05-23 |