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 |
Incidental Mutation