Incidental Mutation 'R1389:Slc46a2'
ID |
162526 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc46a2
|
Ensembl Gene |
ENSMUSG00000028386 |
Gene Name |
solute carrier family 46, member 2 |
Synonyms |
Ly110, Tscot, TSO-1C12, 5430429N04Rik |
MMRRC Submission |
039451-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1389 (G1)
|
Quality Score |
155 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
59905899-59915056 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 59914620 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 101
(L101P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030081
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030081]
|
AlphaFold |
Q8CA03 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030081
AA Change: L101P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030081 Gene: ENSMUSG00000028386 AA Change: L101P
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
65 |
424 |
1.1e-16 |
PFAM |
transmembrane domain
|
438 |
460 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.6%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: About one-third of homozygotes carrying a reporter allele that results in a small deletion within exon 1 display a slight reduction in total thymocyte yield at 6 weeks of age. [provided by MGI curators]
|
Allele List at MGI |
All alleles(3) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(1) |
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb3 |
A |
G |
10: 85,476,460 (GRCm39) |
T914A |
possibly damaging |
Het |
Acsl3 |
A |
C |
1: 78,665,999 (GRCm39) |
I142L |
probably benign |
Het |
Adgra2 |
C |
T |
8: 27,601,116 (GRCm39) |
P252L |
probably damaging |
Het |
Akap6 |
A |
G |
12: 53,186,303 (GRCm39) |
E1239G |
probably benign |
Het |
Arhgef17 |
TGGAGGAGGAGGAGGAGG |
TGGAGGAGGAGGAGG |
7: 100,580,244 (GRCm39) |
|
probably benign |
Het |
Calml4 |
A |
T |
9: 62,778,548 (GRCm39) |
D12V |
probably damaging |
Het |
Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
Ccar2 |
C |
A |
14: 70,377,558 (GRCm39) |
V699L |
possibly damaging |
Het |
Ccdc27 |
T |
C |
4: 154,126,226 (GRCm39) |
M88V |
unknown |
Het |
Ceacam15 |
T |
C |
7: 16,405,988 (GRCm39) |
R188G |
probably damaging |
Het |
Dcaf8 |
G |
A |
1: 172,001,619 (GRCm39) |
R272H |
probably benign |
Het |
Dchs1 |
A |
G |
7: 105,404,778 (GRCm39) |
V2588A |
probably benign |
Het |
Dst |
G |
A |
1: 34,250,313 (GRCm39) |
R1749H |
probably damaging |
Het |
Exog |
A |
G |
9: 119,291,572 (GRCm39) |
Q283R |
probably benign |
Het |
Fmnl1 |
A |
T |
11: 103,077,535 (GRCm39) |
|
probably null |
Het |
Gramd1c |
T |
C |
16: 43,811,085 (GRCm39) |
D213G |
probably damaging |
Het |
Iqgap1 |
A |
G |
7: 80,409,504 (GRCm39) |
|
probably null |
Het |
Itgae |
A |
G |
11: 73,016,188 (GRCm39) |
Y799C |
probably damaging |
Het |
Kalrn |
T |
C |
16: 33,809,173 (GRCm39) |
I903V |
probably benign |
Het |
Kcnh1 |
A |
G |
1: 192,188,071 (GRCm39) |
E844G |
probably benign |
Het |
Khdc1a |
A |
T |
1: 21,420,251 (GRCm39) |
D3V |
probably damaging |
Het |
Ly6g |
T |
C |
15: 75,028,615 (GRCm39) |
F25S |
probably benign |
Het |
Mapk1ip1 |
G |
A |
7: 138,438,456 (GRCm39) |
|
probably benign |
Het |
Mfsd3 |
A |
G |
15: 76,586,889 (GRCm39) |
H243R |
probably benign |
Het |
Mms22l |
T |
A |
4: 24,591,076 (GRCm39) |
Y1016N |
probably damaging |
Het |
Mrgprb5 |
A |
T |
7: 47,818,078 (GRCm39) |
V219E |
probably damaging |
Het |
Nars2 |
G |
A |
7: 96,652,036 (GRCm39) |
S209N |
probably benign |
Het |
Nckap5 |
T |
C |
1: 125,954,447 (GRCm39) |
T702A |
probably damaging |
Het |
Or1e26 |
T |
C |
11: 73,480,369 (GRCm39) |
N65S |
possibly damaging |
Het |
Paf1 |
A |
G |
7: 28,098,257 (GRCm39) |
|
probably benign |
Het |
Prl3d1 |
A |
T |
13: 27,282,693 (GRCm39) |
R145* |
probably null |
Het |
Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
Rnf13 |
T |
A |
3: 57,686,917 (GRCm39) |
N103K |
probably damaging |
Het |
Senp1 |
T |
C |
15: 97,973,734 (GRCm39) |
S170G |
probably benign |
Het |
Tmem123 |
C |
T |
9: 7,791,107 (GRCm39) |
T136M |
probably damaging |
Het |
Tpo |
T |
A |
12: 30,153,109 (GRCm39) |
H415L |
probably damaging |
Het |
Vipr2 |
A |
G |
12: 116,100,950 (GRCm39) |
I255V |
probably benign |
Het |
Zc3h11a |
A |
T |
1: 133,561,541 (GRCm39) |
V310E |
probably damaging |
Het |
Zfp3 |
T |
A |
11: 70,663,462 (GRCm39) |
C474S |
probably damaging |
Het |
Zfp707 |
T |
A |
15: 75,846,465 (GRCm39) |
C99S |
probably damaging |
Het |
Zranb1 |
C |
T |
7: 132,573,062 (GRCm39) |
P410S |
probably damaging |
Het |
Zswim8 |
G |
T |
14: 20,760,816 (GRCm39) |
R30L |
probably damaging |
Het |
|
Other mutations in Slc46a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01466:Slc46a2
|
APN |
4 |
59,911,926 (GRCm39) |
nonsense |
probably null |
|
G5030:Slc46a2
|
UTSW |
4 |
59,913,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R0008:Slc46a2
|
UTSW |
4 |
59,914,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R0047:Slc46a2
|
UTSW |
4 |
59,914,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R0047:Slc46a2
|
UTSW |
4 |
59,914,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R1199:Slc46a2
|
UTSW |
4 |
59,914,189 (GRCm39) |
missense |
probably benign |
0.17 |
R1225:Slc46a2
|
UTSW |
4 |
59,914,125 (GRCm39) |
missense |
probably benign |
0.01 |
R1965:Slc46a2
|
UTSW |
4 |
59,914,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R2334:Slc46a2
|
UTSW |
4 |
59,914,150 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4036:Slc46a2
|
UTSW |
4 |
59,913,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R4230:Slc46a2
|
UTSW |
4 |
59,914,048 (GRCm39) |
missense |
probably benign |
0.15 |
R4600:Slc46a2
|
UTSW |
4 |
59,911,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R5851:Slc46a2
|
UTSW |
4 |
59,913,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R6467:Slc46a2
|
UTSW |
4 |
59,914,077 (GRCm39) |
missense |
probably benign |
0.00 |
R7213:Slc46a2
|
UTSW |
4 |
59,914,279 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7536:Slc46a2
|
UTSW |
4 |
59,914,141 (GRCm39) |
nonsense |
probably null |
|
R7986:Slc46a2
|
UTSW |
4 |
59,911,858 (GRCm39) |
missense |
probably benign |
0.11 |
R8354:Slc46a2
|
UTSW |
4 |
59,913,931 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8377:Slc46a2
|
UTSW |
4 |
59,914,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R9380:Slc46a2
|
UTSW |
4 |
59,913,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R9605:Slc46a2
|
UTSW |
4 |
59,914,056 (GRCm39) |
missense |
probably damaging |
0.98 |
R9626:Slc46a2
|
UTSW |
4 |
59,914,241 (GRCm39) |
missense |
probably benign |
0.07 |
R9698:Slc46a2
|
UTSW |
4 |
59,912,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACGATTTGCTTGAAGAGATGCCCC -3'
(R):5'- TGAGGCTGGAGGCTCCTCTAATTAC -3'
Sequencing Primer
(F):5'- TTGAAGAGATGCCCCGAAGC -3'
(R):5'- GGAGGCTCCTCTAATTACAGTGC -3'
|
Posted On |
2014-03-17 |