Incidental Mutation 'R4830:Slc43a2'
| ID |
372753 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc43a2
|
| Ensembl Gene |
ENSMUSG00000038178 |
| Gene Name |
solute carrier family 43, member 2 |
| Synonyms |
7630402D21Rik |
| MMRRC Submission |
042446-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.798)
|
| Stock # |
R4830 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
75422520-75468401 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75434119 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 99
(L99P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042561]
[ENSMUST00000108433]
[ENSMUST00000127226]
[ENSMUST00000143035]
[ENSMUST00000149727]
[ENSMUST00000169547]
|
| AlphaFold |
Q8CGA3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042561
AA Change: L99P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046074
Gene: ENSMUSG00000038178
AA Change: L99P
| 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: L99P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104071
Gene: ENSMUSG00000038178
AA Change: L99P
| 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 |
possibly damaging
Transcript: ENSMUST00000127226
AA Change: L99P
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117264
Gene: ENSMUSG00000038178
AA Change: L99P
| 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 damaging
Transcript: ENSMUST00000143035
AA Change: L99P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123101
Gene: ENSMUSG00000038178
AA Change: L99P
| 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 damaging
Transcript: ENSMUST00000149727
AA Change: L99P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116255
Gene: ENSMUSG00000038178
AA Change: L99P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152775
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169547
AA Change: L99P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126838
Gene: ENSMUSG00000038178
AA Change: L99P
| 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 |
0.9186 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.5%
|
| Validation Efficiency |
97% (71/73) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd3 |
C |
A |
3: 121,553,933 (GRCm39) |
G643V |
probably damaging |
Het |
| Adamtsl1 |
A |
G |
4: 86,274,619 (GRCm39) |
E1225G |
probably damaging |
Het |
| Agbl5 |
G |
A |
5: 31,048,059 (GRCm39) |
R111H |
probably damaging |
Het |
| Ankle2 |
A |
C |
5: 110,389,879 (GRCm39) |
K446Q |
probably damaging |
Het |
| Boc |
A |
C |
16: 44,310,520 (GRCm39) |
M800R |
probably damaging |
Het |
| Ccnt1 |
A |
T |
15: 98,441,332 (GRCm39) |
N645K |
probably damaging |
Het |
| Cd93 |
G |
A |
2: 148,285,299 (GRCm39) |
Q16* |
probably null |
Het |
| Cpsf4l |
G |
T |
11: 113,600,328 (GRCm39) |
|
probably benign |
Het |
| Cuzd1 |
T |
A |
7: 130,919,783 (GRCm39) |
D111V |
probably damaging |
Het |
| Dab2 |
T |
C |
15: 6,457,008 (GRCm39) |
C232R |
probably benign |
Het |
| Dmpk |
A |
T |
7: 18,821,453 (GRCm39) |
Y237F |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,021,745 (GRCm39) |
T3526S |
possibly damaging |
Het |
| Dock2 |
T |
C |
11: 34,223,767 (GRCm39) |
|
probably null |
Het |
| Dsp |
G |
A |
13: 38,376,840 (GRCm39) |
V1542I |
probably benign |
Het |
| Dst |
T |
A |
1: 34,237,586 (GRCm39) |
|
probably null |
Het |
| Esd |
T |
C |
14: 74,978,600 (GRCm39) |
L54S |
probably damaging |
Het |
| Exd1 |
C |
T |
2: 119,350,807 (GRCm39) |
A485T |
probably benign |
Het |
| Gm3604 |
A |
T |
13: 62,516,857 (GRCm39) |
N500K |
probably damaging |
Het |
| Grhl2 |
T |
A |
15: 37,335,903 (GRCm39) |
|
probably null |
Het |
| Gsto1 |
C |
T |
19: 47,852,830 (GRCm39) |
R222C |
probably benign |
Het |
| Inpp4a |
T |
A |
1: 37,410,861 (GRCm39) |
M343K |
probably damaging |
Het |
| Itpripl2 |
T |
C |
7: 118,090,280 (GRCm39) |
Q93R |
probably benign |
Het |
| Jakmip2 |
G |
A |
18: 43,700,208 (GRCm39) |
T450I |
probably benign |
Het |
| Kdm6b |
A |
T |
11: 69,294,620 (GRCm39) |
I1186N |
unknown |
Het |
| Kif1a |
T |
C |
1: 92,948,931 (GRCm39) |
|
probably null |
Het |
| Klhl20 |
T |
C |
1: 160,925,946 (GRCm39) |
K434R |
probably benign |
Het |
| Lemd3 |
T |
C |
10: 120,767,853 (GRCm39) |
D697G |
probably damaging |
Het |
| Lipo3 |
A |
G |
19: 33,753,987 (GRCm39) |
S383P |
probably damaging |
Het |
| Ltn1 |
C |
A |
16: 87,176,582 (GRCm39) |
K1741N |
probably damaging |
Het |
| Lvrn |
A |
T |
18: 47,038,418 (GRCm39) |
T991S |
probably damaging |
Het |
| Macroh2a2 |
C |
T |
10: 61,575,132 (GRCm39) |
D355N |
possibly damaging |
Het |
| Mast3 |
C |
A |
8: 71,241,559 (GRCm39) |
R151L |
possibly damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
| Myoz1 |
T |
C |
14: 20,705,377 (GRCm39) |
K14E |
probably damaging |
Het |
| Neb |
G |
T |
2: 52,082,532 (GRCm39) |
Q5450K |
probably damaging |
Het |
| Nedd1 |
T |
A |
10: 92,522,120 (GRCm39) |
N639I |
probably damaging |
Het |
| Nlrp4e |
A |
T |
7: 23,036,165 (GRCm39) |
N673Y |
probably benign |
Het |
| Nop53 |
C |
T |
7: 15,676,129 (GRCm39) |
R190Q |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,789,092 (GRCm39) |
Y468H |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,958,433 (GRCm39) |
T3507A |
probably damaging |
Het |
| Opn5 |
T |
C |
17: 42,922,187 (GRCm39) |
H5R |
probably benign |
Het |
| Or4l15 |
T |
C |
14: 50,197,681 (GRCm39) |
N283D |
probably damaging |
Het |
| Patl1 |
T |
C |
19: 11,902,515 (GRCm39) |
M349T |
probably benign |
Het |
| Phactr3 |
A |
G |
2: 177,925,811 (GRCm39) |
N362S |
probably damaging |
Het |
| Pirb |
C |
T |
7: 3,720,602 (GRCm39) |
G299S |
probably benign |
Het |
| Rapgef5 |
G |
A |
12: 117,719,809 (GRCm39) |
R579Q |
probably damaging |
Het |
| Rgl1 |
T |
C |
1: 152,430,081 (GRCm39) |
D234G |
probably benign |
Het |
| Serpinb3a |
C |
T |
1: 106,976,316 (GRCm39) |
E122K |
probably benign |
Het |
| Slc22a15 |
T |
C |
3: 101,782,919 (GRCm39) |
|
probably benign |
Het |
| Slc25a12 |
A |
T |
2: 71,127,149 (GRCm39) |
V344E |
probably damaging |
Het |
| Smim27 |
G |
T |
4: 40,269,719 (GRCm39) |
|
probably null |
Het |
| Smtn |
A |
G |
11: 3,470,736 (GRCm39) |
|
probably benign |
Het |
| Szt2 |
A |
T |
4: 118,226,445 (GRCm39) |
Y3001N |
unknown |
Het |
| Tgfbr3 |
G |
T |
5: 107,257,585 (GRCm39) |
P825T |
probably damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,568,937 (GRCm39) |
T472A |
probably benign |
Het |
| Trf |
T |
A |
9: 103,105,114 (GRCm39) |
D66V |
probably damaging |
Het |
| Vmn1r124 |
A |
G |
7: 20,993,624 (GRCm39) |
C307R |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,452,370 (GRCm39) |
F656Y |
possibly damaging |
Het |
| Zic1 |
G |
T |
9: 91,244,584 (GRCm39) |
S358R |
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 |
|
|
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 |
|
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'- TCTTTGGGGAAGCCTACCTG -3'
(R):5'- CTGTGCCAGATACGGTAGTAATCC -3'
Sequencing Primer
(F):5'- TGGGGAAGCCTACCTGTTCTC -3'
(R):5'- CAGATACGGTAGTAATCCTGTCCAG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation