Incidental Mutation 'R8395:Slc43a1'
| ID |
647552 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc43a1
|
| Ensembl Gene |
ENSMUSG00000027075 |
| Gene Name |
solute carrier family 43, member 1 |
| Synonyms |
2610016F07Rik, Pov1, Lat3, PB39 |
| MMRRC Submission |
067759-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R8395 (G1)
|
| Quality Score |
183.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
84669196-84693930 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84671266 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 67
(L67P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028469
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028469]
[ENSMUST00000111624]
[ENSMUST00000111625]
[ENSMUST00000121114]
[ENSMUST00000146816]
|
| AlphaFold |
Q8BSM7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028469
AA Change: L67P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028469
Gene: ENSMUSG00000027075
AA Change: L67P
| 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: L24P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107251
Gene: ENSMUSG00000027075
AA Change: L24P
| 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: L50P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107252
Gene: ENSMUSG00000027075
AA Change: L50P
| 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: L24P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112642
Gene: ENSMUSG00000027075
AA Change: L24P
| 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: ENSMUST00000146816
AA Change: L24P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121368
Gene: ENSMUSG00000027075
AA Change: L24P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
75 |
97 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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 |
|---|
| Abcb9 |
T |
C |
5: 124,218,280 (GRCm39) |
E352G |
possibly damaging |
Het |
| Ascc3 |
T |
C |
10: 50,525,400 (GRCm39) |
F532L |
possibly damaging |
Het |
| Bckdk |
G |
A |
7: 127,507,139 (GRCm39) |
V328I |
probably benign |
Het |
| Cenpu |
T |
C |
8: 47,007,084 (GRCm39) |
Y26H |
probably benign |
Het |
| Clk3 |
A |
T |
9: 57,672,445 (GRCm39) |
V119E |
probably benign |
Het |
| Cnn2 |
A |
G |
10: 79,828,293 (GRCm39) |
N90S |
probably benign |
Het |
| Dlk2 |
T |
C |
17: 46,611,969 (GRCm39) |
I78T |
probably damaging |
Het |
| Ercc8 |
G |
T |
13: 108,323,788 (GRCm39) |
E367* |
probably null |
Het |
| Gbp9 |
A |
T |
5: 105,228,069 (GRCm39) |
I571K |
probably damaging |
Het |
| Gm3404 |
T |
C |
5: 146,462,724 (GRCm39) |
I29T |
possibly damaging |
Het |
| Gpat4 |
GTGTT |
GT |
8: 23,669,498 (GRCm39) |
|
probably benign |
Het |
| Heatr5a |
A |
G |
12: 51,962,961 (GRCm39) |
S74P |
|
Het |
| Htr6 |
T |
G |
4: 138,789,078 (GRCm39) |
M326L |
possibly damaging |
Het |
| Ighv5-8 |
C |
T |
12: 113,618,813 (GRCm39) |
A76V |
unknown |
Het |
| Ippk |
A |
G |
13: 49,615,096 (GRCm39) |
E493G |
probably damaging |
Het |
| Kiz |
A |
G |
2: 146,794,949 (GRCm39) |
N603S |
possibly damaging |
Het |
| Limch1 |
A |
T |
5: 67,126,394 (GRCm39) |
K7N |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 40,547,411 (GRCm39) |
C4257Y |
|
Het |
| Map4k5 |
C |
G |
12: 69,877,203 (GRCm39) |
R381T |
probably null |
Het |
| Map9 |
A |
G |
3: 82,289,276 (GRCm39) |
I455V |
probably benign |
Het |
| Mpped1 |
T |
C |
15: 83,684,257 (GRCm39) |
V93A |
probably damaging |
Het |
| Myh10 |
T |
C |
11: 68,682,842 (GRCm39) |
L1129P |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,065,645 (GRCm39) |
M6196L |
probably benign |
Het |
| Neb |
C |
A |
2: 52,147,806 (GRCm39) |
V2738F |
probably damaging |
Het |
| Or10ad1 |
A |
G |
15: 98,105,500 (GRCm39) |
V255A |
probably benign |
Het |
| Or8k18 |
G |
A |
2: 86,085,878 (GRCm39) |
S53F |
possibly damaging |
Het |
| Sgf29 |
T |
A |
7: 126,271,837 (GRCm39) |
C287* |
probably null |
Het |
| Siglece |
A |
G |
7: 43,305,523 (GRCm39) |
V398A |
probably benign |
Het |
| Slco2a1 |
A |
G |
9: 102,954,239 (GRCm39) |
H470R |
probably benign |
Het |
| Spata31d1e |
A |
G |
13: 59,889,540 (GRCm39) |
V760A |
probably benign |
Het |
| Syngr1 |
T |
C |
15: 79,997,445 (GRCm39) |
S188P |
probably benign |
Het |
| Trpm4 |
T |
C |
7: 44,958,634 (GRCm39) |
D885G |
probably benign |
Het |
| Ubd |
A |
T |
17: 37,506,249 (GRCm39) |
Q45L |
probably damaging |
Het |
| Unc45a |
A |
T |
7: 79,976,080 (GRCm39) |
C800S |
probably benign |
Het |
| Vmn2r112 |
A |
G |
17: 22,837,587 (GRCm39) |
T683A |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,799,982 (GRCm39) |
T787S |
possibly damaging |
Het |
| Vmn2r85 |
G |
A |
10: 130,261,797 (GRCm39) |
P180L |
probably damaging |
Het |
| Vtcn1 |
T |
C |
3: 100,791,070 (GRCm39) |
F36S |
probably benign |
Het |
| Wdr86 |
A |
G |
5: 24,935,187 (GRCm39) |
L52P |
probably damaging |
Het |
| Xpo4 |
A |
T |
14: 57,885,924 (GRCm39) |
S43T |
probably benign |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly 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 |
|
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 |
|
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'- TGAAGGCTCCATCTCTTTGGC -3'
(R):5'- AATTCCTAGCTGCCCAGTG -3'
Sequencing Primer
(F):5'- CATCTCTTTGGCTCCAGGGG -3'
(R):5'- TAGCTGCCCAGTGTTCCG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation