Incidental Mutation 'R7859:Slc43a1'
ID |
607352 |
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 |
045912-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
R7859 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
84669196-84693930 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 84687220 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 374
(F374L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028469
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028469]
[ENSMUST00000111624]
[ENSMUST00000111625]
[ENSMUST00000121114]
|
AlphaFold |
Q8BSM7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028469
AA Change: F374L
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000028469 Gene: ENSMUSG00000027075 AA Change: F374L
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
60 |
542 |
6.2e-14 |
PFAM |
transmembrane domain
|
559 |
581 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111624
AA Change: F331L
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000107251 Gene: ENSMUSG00000027075 AA Change: F331L
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
16 |
499 |
3.7e-14 |
PFAM |
transmembrane domain
|
516 |
538 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111625
AA Change: F357L
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000107252 Gene: ENSMUSG00000027075 AA Change: F357L
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 |
possibly damaging
Transcript: ENSMUST00000121114
AA Change: F331L
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000112642 Gene: ENSMUSG00000027075 AA Change: F331L
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
16 |
499 |
3.7e-14 |
PFAM |
transmembrane domain
|
516 |
538 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
C |
17: 24,603,500 (GRCm39) |
L564P |
probably damaging |
Het |
Arsb |
T |
A |
13: 93,998,615 (GRCm39) |
S308T |
probably benign |
Het |
Atxn10 |
A |
G |
15: 85,346,526 (GRCm39) |
D428G |
probably benign |
Het |
BB014433 |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
8: 15,092,160 (GRCm39) |
|
probably benign |
Het |
Cd300a |
T |
C |
11: 114,784,165 (GRCm39) |
Y58H |
probably benign |
Het |
Cemip2 |
T |
A |
19: 21,809,539 (GRCm39) |
I973N |
possibly damaging |
Het |
Crkl |
T |
A |
16: 17,286,960 (GRCm39) |
M172K |
probably damaging |
Het |
Cyfip1 |
T |
C |
7: 55,549,774 (GRCm39) |
I647T |
probably damaging |
Het |
Dlgap1 |
A |
G |
17: 70,823,683 (GRCm39) |
T223A |
probably benign |
Het |
Dmtf1 |
T |
C |
5: 9,178,044 (GRCm39) |
S372G |
probably damaging |
Het |
Dock8 |
G |
A |
19: 25,160,934 (GRCm39) |
V1814M |
probably damaging |
Het |
Dusp22 |
A |
C |
13: 30,892,737 (GRCm39) |
K171N |
probably benign |
Het |
Evi2a |
T |
C |
11: 79,418,452 (GRCm39) |
S53G |
probably benign |
Het |
Ipcef1 |
T |
A |
10: 6,840,569 (GRCm39) |
D376V |
probably damaging |
Het |
Kndc1 |
A |
T |
7: 139,500,880 (GRCm39) |
D723V |
possibly damaging |
Het |
Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
Mcur1 |
G |
A |
13: 43,713,485 (GRCm39) |
R40* |
probably null |
Het |
Mgam |
T |
A |
6: 40,717,113 (GRCm39) |
N265K |
possibly damaging |
Het |
Muc6 |
G |
A |
7: 141,231,687 (GRCm39) |
T1069I |
probably damaging |
Het |
Myh2 |
T |
C |
11: 67,077,526 (GRCm39) |
L887P |
probably damaging |
Het |
Myo1d |
T |
G |
11: 80,575,203 (GRCm39) |
D171A |
probably damaging |
Het |
Nat2 |
T |
A |
8: 67,954,002 (GRCm39) |
F37L |
probably damaging |
Het |
Nkx2-2 |
A |
G |
2: 147,019,730 (GRCm39) |
C236R |
unknown |
Het |
Nrl |
G |
A |
14: 55,759,582 (GRCm39) |
S115L |
probably benign |
Het |
Nrsn1 |
A |
C |
13: 25,446,254 (GRCm39) |
S41A |
probably damaging |
Het |
Or5b12 |
T |
A |
19: 12,897,346 (GRCm39) |
E109V |
probably damaging |
Het |
Pax8 |
T |
A |
2: 24,311,567 (GRCm39) |
H456L |
possibly damaging |
Het |
Pkd1 |
T |
A |
17: 24,790,254 (GRCm39) |
I979K |
probably damaging |
Het |
Prex2 |
A |
G |
1: 11,150,274 (GRCm39) |
N149D |
probably damaging |
Het |
Psg28 |
A |
T |
7: 18,160,149 (GRCm39) |
V349D |
probably damaging |
Het |
Ptpro |
G |
A |
6: 137,369,805 (GRCm39) |
|
probably null |
Het |
Sema4d |
T |
A |
13: 51,876,387 (GRCm39) |
K94N |
probably benign |
Het |
Slc22a22 |
A |
T |
15: 57,114,348 (GRCm39) |
D326E |
probably benign |
Het |
Slc25a29 |
G |
A |
12: 108,792,756 (GRCm39) |
T274I |
probably benign |
Het |
Syne1 |
G |
T |
10: 5,107,683 (GRCm39) |
Q520K |
possibly damaging |
Het |
Taar4 |
T |
C |
10: 23,837,032 (GRCm39) |
V214A |
probably benign |
Het |
Tex22 |
T |
A |
12: 113,052,103 (GRCm39) |
C54S |
possibly damaging |
Het |
Tpo |
T |
A |
12: 30,150,573 (GRCm39) |
I436F |
probably damaging |
Het |
Usp53 |
T |
C |
3: 122,743,415 (GRCm39) |
H507R |
possibly damaging |
Het |
Usp54 |
T |
C |
14: 20,638,204 (GRCm39) |
E255G |
probably benign |
Het |
Vmn2r109 |
G |
T |
17: 20,761,436 (GRCm39) |
F640L |
probably damaging |
Het |
Vmn2r124 |
A |
G |
17: 18,282,212 (GRCm39) |
Y80C |
probably damaging |
Het |
Vmn2r27 |
A |
T |
6: 124,201,201 (GRCm39) |
I252K |
probably benign |
Het |
Zfp457 |
A |
G |
13: 67,454,445 (GRCm39) |
|
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 |
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 |
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'- CTTCCTCTCTGAAGTCACACAG -3'
(R):5'- TCTCTGTGGGTAGAGGAGAGAC -3'
Sequencing Primer
(F):5'- ACACTAGTTCCATATGAGCTGAACAG -3'
(R):5'- ACATGGTAATCGGATGCTTAGCC -3'
|
Posted On |
2019-12-20 |