Incidental Mutation 'R2969:Slc43a1'
| ID |
256050 |
| Institutional Source |
Beutler Lab
|
| 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: 0.093)
|
| Stock # |
R2969 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
84669196-84693930 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 84687679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 395
(T395I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028469]
[ENSMUST00000111624]
[ENSMUST00000111625]
[ENSMUST00000121114]
|
| AlphaFold |
Q8BSM7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028469
AA Change: T412I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000028469
Gene: ENSMUSG00000027075
AA Change: T412I
| 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: T369I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000107251
Gene: ENSMUSG00000027075
AA Change: T369I
| 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: T395I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107252
Gene: ENSMUSG00000027075
AA Change: T395I
| 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: T369I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112642
Gene: ENSMUSG00000027075
AA Change: T369I
| 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
A |
G |
10: 69,830,225 (GRCm39) |
T137A |
probably damaging |
Het |
| Antxr2 |
A |
T |
5: 98,178,275 (GRCm39) |
L45* |
probably null |
Het |
| Armc1 |
T |
C |
3: 19,189,024 (GRCm39) |
S214G |
probably benign |
Het |
| Arsj |
T |
C |
3: 126,233,021 (GRCm39) |
I589T |
probably benign |
Het |
| C8a |
A |
G |
4: 104,710,974 (GRCm39) |
S230P |
probably damaging |
Het |
| Cnga3 |
A |
G |
1: 37,300,159 (GRCm39) |
Y331C |
probably damaging |
Het |
| Gm21976 |
A |
G |
13: 98,423,790 (GRCm39) |
Y33C |
unknown |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Gtf2i |
A |
G |
5: 134,280,746 (GRCm39) |
V556A |
probably damaging |
Het |
| Ighv8-12 |
C |
T |
12: 115,611,570 (GRCm39) |
R118Q |
probably benign |
Het |
| Ing4 |
A |
G |
6: 125,024,288 (GRCm39) |
K131E |
probably benign |
Het |
| Mrgprb5 |
T |
A |
7: 47,818,317 (GRCm39) |
R139S |
probably damaging |
Het |
| Nap1l2 |
A |
T |
X: 102,229,254 (GRCm39) |
D221E |
probably benign |
Het |
| Nepn |
A |
T |
10: 52,276,983 (GRCm39) |
R179* |
probably null |
Het |
| Nrxn3 |
G |
A |
12: 89,321,241 (GRCm39) |
C383Y |
probably damaging |
Het |
| Pfpl |
G |
T |
19: 12,406,907 (GRCm39) |
R386L |
probably benign |
Het |
| Rere |
A |
G |
4: 150,654,673 (GRCm39) |
K402E |
unknown |
Het |
| Serpina3n |
C |
T |
12: 104,375,333 (GRCm39) |
T135M |
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Vipas39 |
T |
C |
12: 87,289,345 (GRCm39) |
N373S |
probably benign |
Het |
| Vmn1r128 |
T |
A |
7: 21,084,046 (GRCm39) |
V250D |
probably damaging |
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 |
|
IGL02972:Slc43a1
|
APN |
2 |
84,690,462 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTCATTCTCGTAGTCCTGGG -3'
(R):5'- ACAGGGAAGTGCATTGCTCTC -3'
Sequencing Primer
(F):5'- TAGTCCTGGGGTCCTGAGAAC -3'
(R):5'- GGAAGTGCATTGCTCTCTCAGAC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation