Incidental Mutation 'R4036:Slc46a2'
| ID |
313707 |
| 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 |
040963-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4036 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
59905899-59915056 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59913818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 368
(F368L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030081
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030081]
|
| AlphaFold |
Q8CA03 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030081
AA Change: F368L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030081
Gene: ENSMUSG00000028386
AA Change: F368L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
65 |
424 |
1.1e-16 |
PFAM |
|
transmembrane domain
|
438 |
460 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.4865 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (33/33) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544M13Rik |
T |
C |
13: 114,744,205 (GRCm39) |
|
noncoding transcript |
Het |
| Ahctf1 |
T |
C |
1: 179,590,181 (GRCm39) |
Q1364R |
possibly damaging |
Het |
| Anxa2 |
A |
G |
9: 69,395,352 (GRCm39) |
N265S |
probably damaging |
Het |
| Bcan |
A |
G |
3: 87,903,423 (GRCm39) |
|
probably null |
Het |
| Cntln |
A |
G |
4: 84,924,725 (GRCm39) |
Y610C |
probably damaging |
Het |
| Cyp39a1 |
C |
A |
17: 43,987,831 (GRCm39) |
A99E |
probably damaging |
Het |
| Drc1 |
A |
G |
5: 30,504,526 (GRCm39) |
I223V |
probably benign |
Het |
| Eef2kmt |
A |
T |
16: 5,063,135 (GRCm39) |
V335D |
probably damaging |
Het |
| Fanci |
T |
C |
7: 79,094,570 (GRCm39) |
L1167P |
probably damaging |
Het |
| Glb1l3 |
A |
C |
9: 26,740,343 (GRCm39) |
M329R |
probably damaging |
Het |
| Gns |
C |
A |
10: 121,207,095 (GRCm39) |
T72N |
probably damaging |
Het |
| Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
| Klk1b8 |
A |
G |
7: 43,447,511 (GRCm39) |
I9V |
probably null |
Het |
| Map4 |
A |
G |
9: 109,861,283 (GRCm39) |
T216A |
possibly damaging |
Het |
| Metrn |
T |
C |
17: 26,013,984 (GRCm39) |
T281A |
probably benign |
Het |
| Mid1-ps1 |
G |
A |
Y: 90,773,563 (GRCm39) |
|
noncoding transcript |
Het |
| Ndc1 |
G |
A |
4: 107,268,269 (GRCm39) |
D602N |
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,361,524 (GRCm39) |
D164G |
possibly damaging |
Het |
| Or5ac22 |
T |
A |
16: 59,135,113 (GRCm39) |
H219L |
probably benign |
Het |
| Pcdha8 |
T |
C |
18: 37,125,914 (GRCm39) |
M132T |
probably benign |
Het |
| Pomt2 |
A |
G |
12: 87,158,296 (GRCm39) |
|
probably null |
Het |
| Prrt3 |
AGGGGG |
AGGGG |
6: 113,474,641 (GRCm39) |
|
probably null |
Het |
| Rfx6 |
T |
A |
10: 51,602,842 (GRCm39) |
H786Q |
probably damaging |
Het |
| Scn4a |
A |
C |
11: 106,212,883 (GRCm39) |
L1374R |
possibly damaging |
Het |
| Slc16a9 |
C |
T |
10: 70,110,786 (GRCm39) |
T124M |
probably damaging |
Het |
| St18 |
T |
A |
1: 6,898,010 (GRCm39) |
I604K |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,548,497 (GRCm39) |
V31935A |
possibly damaging |
Het |
| Urb1 |
T |
C |
16: 90,584,974 (GRCm39) |
H549R |
probably benign |
Het |
| Vmn1r219 |
A |
G |
13: 23,347,272 (GRCm39) |
M154V |
probably benign |
Het |
| Zfp575 |
G |
A |
7: 24,285,440 (GRCm39) |
S67L |
possibly 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 |
|
R1389:Slc46a2
|
UTSW |
4 |
59,914,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- ACCATGGCAAGATTCAGACAGC -3'
(R):5'- GAGCCTCTCCATTGGAACCAAG -3'
Sequencing Primer
(F):5'- TTCAGACAGCAATACAGGTGATAC -3'
(R):5'- TCTCCATTGGAACCAAGTGCAG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation