Incidental Mutation 'R3726:Slc43a2'
| ID |
270800 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc43a2
|
| Ensembl Gene |
ENSMUSG00000038178 |
| Gene Name |
solute carrier family 43, member 2 |
| Synonyms |
7630402D21Rik |
| MMRRC Submission |
040717-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.798)
|
| Stock # |
R3726 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
75422520-75468401 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 75433980 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: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (49/49) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402K13Rik |
AGAGGAG |
AGAG |
X: 8,971,342 (GRCm39) |
|
probably benign |
Het |
| Caap1 |
A |
T |
4: 94,389,380 (GRCm39) |
V318D |
probably damaging |
Het |
| Camsap3 |
T |
C |
8: 3,653,785 (GRCm39) |
L485P |
probably damaging |
Het |
| Ccsap |
T |
C |
8: 124,586,100 (GRCm39) |
E17G |
possibly damaging |
Het |
| Cdk5rap2 |
C |
A |
4: 70,153,674 (GRCm39) |
K1716N |
possibly damaging |
Het |
| Coq3 |
T |
C |
4: 21,892,941 (GRCm39) |
|
probably benign |
Het |
| Daam2 |
T |
A |
17: 49,776,766 (GRCm39) |
D773V |
probably damaging |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Fam209 |
T |
C |
2: 172,315,915 (GRCm39) |
S97P |
probably benign |
Het |
| Fam50b |
G |
A |
13: 34,930,869 (GRCm39) |
R115H |
probably damaging |
Het |
| Fbxo31 |
A |
G |
8: 122,305,248 (GRCm39) |
F83L |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,819,311 (GRCm39) |
A5015S |
possibly damaging |
Het |
| Galnt13 |
A |
G |
2: 54,988,669 (GRCm39) |
H497R |
probably damaging |
Het |
| Ggnbp2 |
A |
G |
11: 84,744,920 (GRCm39) |
C201R |
possibly damaging |
Het |
| Gm8730 |
T |
C |
8: 103,591,664 (GRCm39) |
|
noncoding transcript |
Het |
| Gsr |
A |
G |
8: 34,161,565 (GRCm39) |
K124R |
probably benign |
Het |
| Hdgf |
T |
C |
3: 87,821,804 (GRCm39) |
S140P |
probably benign |
Het |
| Iqcg |
C |
T |
16: 32,849,411 (GRCm39) |
E292K |
probably damaging |
Het |
| Lamb1 |
C |
T |
12: 31,371,074 (GRCm39) |
A1375V |
probably null |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lonp1 |
A |
G |
17: 56,925,310 (GRCm39) |
|
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Or6c212 |
A |
T |
10: 129,558,984 (GRCm39) |
V143D |
probably damaging |
Het |
| Pcdhb9 |
T |
C |
18: 37,534,654 (GRCm39) |
L216P |
possibly damaging |
Het |
| Ppp3cb |
A |
G |
14: 20,581,010 (GRCm39) |
|
probably null |
Het |
| Ptprm |
G |
A |
17: 67,263,855 (GRCm39) |
P464L |
possibly damaging |
Het |
| Rars2 |
A |
G |
4: 34,645,787 (GRCm39) |
T235A |
probably benign |
Het |
| Rimkla |
A |
T |
4: 119,334,986 (GRCm39) |
|
probably null |
Het |
| Rnf216 |
A |
T |
5: 143,013,701 (GRCm39) |
I708N |
probably damaging |
Het |
| Six5 |
T |
A |
7: 18,830,855 (GRCm39) |
V494E |
possibly damaging |
Het |
| Slmap |
C |
A |
14: 26,148,397 (GRCm39) |
R671S |
probably damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,665,755 (GRCm39) |
F751S |
possibly damaging |
Het |
| Sptan1 |
G |
A |
2: 29,908,431 (GRCm39) |
D1711N |
possibly damaging |
Het |
| Sptssa |
T |
C |
12: 54,703,180 (GRCm39) |
E30G |
probably damaging |
Het |
| Taf1c |
A |
G |
8: 120,329,809 (GRCm39) |
F111L |
probably damaging |
Het |
| Thbs1 |
A |
G |
2: 117,945,191 (GRCm39) |
I255V |
probably benign |
Het |
| Tmem19 |
A |
G |
10: 115,195,675 (GRCm39) |
|
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tmod1 |
T |
C |
4: 46,097,026 (GRCm39) |
V273A |
probably benign |
Het |
| Trpm8 |
A |
T |
1: 88,255,918 (GRCm39) |
Y191F |
probably benign |
Het |
| Ube4a |
T |
C |
9: 44,844,621 (GRCm39) |
I934V |
probably damaging |
Het |
| Vpreb3 |
G |
A |
10: 75,779,125 (GRCm39) |
|
probably null |
Het |
| Vwf |
G |
T |
6: 125,654,911 (GRCm39) |
|
probably benign |
Het |
| Wdr53 |
T |
C |
16: 32,075,538 (GRCm39) |
C248R |
probably benign |
Het |
| Zfp217 |
A |
G |
2: 169,961,130 (GRCm39) |
V399A |
probably damaging |
Het |
| Zfp980 |
G |
A |
4: 145,428,653 (GRCm39) |
G461S |
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 |
|
|
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 |
|
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'- CCCTTGAAAGTGTAGACAGGACTG -3'
(R):5'- GTCCATGATGATGCCCAGAG -3'
Sequencing Primer
(F):5'- GACTGGTCTCTGGTTTCTACAAATAC -3'
(R):5'- CCCAGAGGCAGGGTGATG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation