Incidental Mutation 'IGL02972:Slc43a1'
| ID |
365849 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc43a1
|
| Ensembl Gene |
ENSMUSG00000027075 |
| Gene Name |
solute carrier family 43, member 1 |
| Synonyms |
2610016F07Rik, Pov1, Lat3, PB39 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
IGL02972
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
84669196-84693930 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 84690462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 460
(V460G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028469]
[ENSMUST00000111624]
[ENSMUST00000111625]
[ENSMUST00000121114]
|
| AlphaFold |
Q8BSM7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028469
AA Change: V503G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028469
Gene: ENSMUSG00000027075
AA Change: V503G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
60 |
542 |
6.2e-14 |
PFAM |
|
transmembrane domain
|
559 |
581 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111624
AA Change: V460G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107251
Gene: ENSMUSG00000027075
AA Change: V460G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
16 |
499 |
3.7e-14 |
PFAM |
|
transmembrane domain
|
516 |
538 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111625
AA Change: V486G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107252
Gene: ENSMUSG00000027075
AA Change: V486G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
20 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
49 |
524 |
2.7e-13 |
PFAM |
|
transmembrane domain
|
542 |
564 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121114
AA Change: V460G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112642
Gene: ENSMUSG00000027075
AA Change: V460G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
16 |
499 |
3.7e-14 |
PFAM |
|
transmembrane domain
|
516 |
538 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145004
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC43A1 belongs to the system L family of plasma membrane carrier proteins that transports large neutral amino acids (Babu et al., 2003 [PubMed 12930836]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410137M14Rik |
T |
A |
17: 37,289,412 (GRCm39) |
I105F |
possibly damaging |
Het |
| Bmpr1b |
C |
T |
3: 141,576,519 (GRCm39) |
D105N |
probably benign |
Het |
| Ces2e |
A |
T |
8: 105,653,693 (GRCm39) |
S44C |
probably damaging |
Het |
| Chd7 |
T |
A |
4: 8,855,174 (GRCm39) |
N2134K |
probably benign |
Het |
| Chst15 |
T |
C |
7: 131,870,902 (GRCm39) |
D211G |
probably damaging |
Het |
| Dpp4 |
T |
C |
2: 62,182,569 (GRCm39) |
S571G |
probably damaging |
Het |
| Gna11 |
T |
C |
10: 81,369,225 (GRCm39) |
I113V |
probably benign |
Het |
| Grm3 |
T |
C |
5: 9,562,410 (GRCm39) |
Y480C |
probably damaging |
Het |
| Mccc1 |
C |
T |
3: 36,039,238 (GRCm39) |
V252I |
possibly damaging |
Het |
| Nol12 |
A |
G |
15: 78,824,799 (GRCm39) |
T209A |
probably damaging |
Het |
| Or2y14 |
G |
A |
11: 49,404,918 (GRCm39) |
G151D |
probably damaging |
Het |
| Or52a33 |
A |
G |
7: 103,289,101 (GRCm39) |
M82T |
probably damaging |
Het |
| Or7e168 |
T |
C |
9: 19,720,238 (GRCm39) |
F208S |
probably damaging |
Het |
| P3h1 |
C |
A |
4: 119,105,157 (GRCm39) |
Q712K |
possibly damaging |
Het |
| Per2 |
T |
A |
1: 91,351,703 (GRCm39) |
E934D |
possibly damaging |
Het |
| Pfkl |
T |
C |
10: 77,824,108 (GRCm39) |
D760G |
probably benign |
Het |
| Piezo2 |
C |
A |
18: 63,197,856 (GRCm39) |
|
probably benign |
Het |
| Pkd1l1 |
C |
T |
11: 8,813,908 (GRCm39) |
R1481Q |
probably damaging |
Het |
| Plpp3 |
T |
C |
4: 105,065,989 (GRCm39) |
V189A |
possibly damaging |
Het |
| Pnpla1 |
A |
G |
17: 29,105,921 (GRCm39) |
E592G |
probably null |
Het |
| Prdm2 |
A |
T |
4: 142,858,736 (GRCm39) |
M1518K |
probably benign |
Het |
| Rhbdl3 |
G |
A |
11: 80,222,742 (GRCm39) |
|
probably benign |
Het |
| Rnf145 |
C |
T |
11: 44,454,865 (GRCm39) |
S582F |
probably benign |
Het |
| Rsf1 |
A |
G |
7: 97,310,533 (GRCm39) |
D421G |
probably benign |
Het |
| Serac1 |
A |
C |
17: 6,121,039 (GRCm39) |
L85* |
probably null |
Het |
| Slc7a6 |
G |
A |
8: 106,906,059 (GRCm39) |
C97Y |
probably damaging |
Het |
| Slco5a1 |
A |
T |
1: 13,060,379 (GRCm39) |
L114* |
probably null |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,450,584 (GRCm39) |
V396A |
probably benign |
Het |
| Tmem232 |
T |
A |
17: 65,783,668 (GRCm39) |
H233L |
probably benign |
Het |
| Tmprss11c |
C |
T |
5: 86,385,692 (GRCm39) |
S247N |
possibly damaging |
Het |
| Tnc |
C |
T |
4: 63,894,715 (GRCm39) |
S1557N |
probably benign |
Het |
| Txlng |
A |
G |
X: 161,590,551 (GRCm39) |
M94T |
probably damaging |
Het |
| Ube2b |
A |
T |
11: 51,879,509 (GRCm39) |
I87K |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,042,196 (GRCm39) |
S133R |
probably damaging |
Het |
| Ugt1a5 |
C |
T |
1: 88,094,144 (GRCm39) |
T124I |
probably benign |
Het |
| Vamp1 |
G |
T |
6: 125,196,610 (GRCm39) |
R117L |
probably benign |
Het |
| Vmn1r87 |
G |
T |
7: 12,866,256 (GRCm39) |
Y10* |
probably null |
Het |
| Zan |
G |
A |
5: 137,461,948 (GRCm39) |
T1077I |
unknown |
Het |
| Zc2hc1b |
C |
A |
10: 13,047,025 (GRCm39) |
V29F |
probably damaging |
Het |
| Zfp597 |
T |
C |
16: 3,684,387 (GRCm39) |
D123G |
probably benign |
Het |
|
| Other mutations in Slc43a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02326:Slc43a1
|
APN |
2 |
84,680,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02480:Slc43a1
|
APN |
2 |
84,669,928 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02740:Slc43a1
|
APN |
2 |
84,690,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03046:Slc43a1
|
APN |
2 |
84,684,897 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03166:Slc43a1
|
APN |
2 |
84,687,700 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1470:Slc43a1
|
UTSW |
2 |
84,690,020 (GRCm39) |
splice site |
probably benign |
|
|
R1982:Slc43a1
|
UTSW |
2 |
84,687,233 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2087:Slc43a1
|
UTSW |
2 |
84,680,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2141:Slc43a1
|
UTSW |
2 |
84,671,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2969:Slc43a1
|
UTSW |
2 |
84,687,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6208:Slc43a1
|
UTSW |
2 |
84,687,184 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6362:Slc43a1
|
UTSW |
2 |
84,690,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7341:Slc43a1
|
UTSW |
2 |
84,693,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7768:Slc43a1
|
UTSW |
2 |
84,687,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7776:Slc43a1
|
UTSW |
2 |
84,671,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7859:Slc43a1
|
UTSW |
2 |
84,687,220 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8082:Slc43a1
|
UTSW |
2 |
84,687,244 (GRCm39) |
missense |
probably benign |
|
|
R8240:Slc43a1
|
UTSW |
2 |
84,690,167 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8395:Slc43a1
|
UTSW |
2 |
84,671,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8861:Slc43a1
|
UTSW |
2 |
84,691,748 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8937:Slc43a1
|
UTSW |
2 |
84,690,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9383:Slc43a1
|
UTSW |
2 |
84,690,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:Slc43a1
|
UTSW |
2 |
84,685,927 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
| Posted On |
2015-12-18 |
Incidental Mutation