Incidental Mutation 'G5030:Slc46a2'
| ID |
504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc46a2
|
| Ensembl Gene |
ENSMUSG00000028386 |
| Gene Name |
solute carrier family 46, member 2 |
| Synonyms |
Ly110, Tscot, TSO-1C12, 5430429N04Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
G5030 (G3)
of strain
560
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
59905899-59915056 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59913867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 352
(I352N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030081
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030081]
|
| AlphaFold |
Q8CA03 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030081
AA Change: I352N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030081
Gene: ENSMUSG00000028386
AA Change: I352N
| 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 |
0.7732 |
| Coding Region Coverage |
|
| Het Detection Efficiency |
35.6% |
| Validation Efficiency |
87% (206/237) |
| 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 |
|---|
| Abca8a |
T |
A |
11: 109,961,165 (GRCm39) |
I585F |
probably damaging |
Het |
| Adam18 |
C |
G |
8: 25,141,872 (GRCm39) |
L232F |
probably benign |
Homo |
| Atp13a4 |
A |
G |
16: 29,274,306 (GRCm39) |
I385T |
probably damaging |
Homo |
| Ccdc17 |
T |
A |
4: 116,455,699 (GRCm39) |
S277T |
probably benign |
Het |
| Ccng1 |
A |
G |
11: 40,644,629 (GRCm39) |
|
probably benign |
Het |
| Ces1f |
T |
C |
8: 94,000,847 (GRCm39) |
D99G |
probably benign |
Het |
| Clec16a |
G |
A |
16: 10,389,425 (GRCm39) |
R187Q |
probably damaging |
Homo |
| Cryl1 |
C |
T |
14: 57,579,595 (GRCm39) |
|
probably benign |
Het |
| Cryzl2 |
C |
T |
1: 157,292,580 (GRCm39) |
Q48* |
probably null |
Het |
| Dtx4 |
A |
G |
19: 12,446,943 (GRCm39) |
L583P |
probably benign |
Het |
| Ephx4 |
A |
T |
5: 107,577,693 (GRCm39) |
D339V |
probably damaging |
Het |
| Eri2 |
A |
T |
7: 119,385,601 (GRCm39) |
V300E |
possibly damaging |
Het |
| F3 |
T |
A |
3: 121,518,648 (GRCm39) |
N37K |
probably damaging |
Homo |
| Fpr1 |
A |
T |
17: 18,097,068 (GRCm39) |
L307H |
probably damaging |
Het |
| Fv1 |
T |
A |
4: 147,953,618 (GRCm39) |
N61K |
possibly damaging |
Het |
| Gm5548 |
T |
C |
3: 112,961,512 (GRCm39) |
|
noncoding transcript |
Homo |
| Il1r1 |
A |
G |
1: 40,352,323 (GRCm39) |
K498E |
possibly damaging |
Homo |
| Myh11 |
T |
C |
16: 14,068,443 (GRCm39) |
I192M |
probably damaging |
Homo |
| Nckap5 |
T |
C |
1: 125,953,591 (GRCm39) |
K923R |
probably damaging |
Het |
| Nmbr |
A |
T |
10: 14,642,747 (GRCm39) |
Y102F |
possibly damaging |
Het |
| Or6c75 |
A |
G |
10: 129,337,406 (GRCm39) |
T218A |
probably benign |
Homo |
| Pde1a |
C |
T |
2: 79,718,180 (GRCm39) |
|
probably benign |
Het |
| Pex6 |
T |
C |
17: 47,026,382 (GRCm39) |
|
probably benign |
Het |
| Rtn2 |
T |
C |
7: 19,027,099 (GRCm39) |
S305P |
probably damaging |
Homo |
| Saal1 |
G |
A |
7: 46,342,207 (GRCm39) |
T412I |
probably damaging |
Homo |
| Trim37 |
A |
T |
11: 87,033,967 (GRCm39) |
H99L |
probably damaging |
Het |
| Tubgcp4 |
C |
T |
2: 121,014,815 (GRCm39) |
R242C |
probably damaging |
Het |
| Twf2 |
C |
A |
9: 106,084,141 (GRCm39) |
L27I |
possibly damaging |
Het |
| Usp40 |
A |
T |
1: 87,921,941 (GRCm39) |
H307Q |
probably damaging |
Het |
| Zfhx3 |
T |
G |
8: 109,678,091 (GRCm39) |
V3047G |
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 |
|
|
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 |
|
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 |
|
| Nature of Mutation |
 DNA sequencing using the SOLiD technique identified a T to A transversion at position 1190 of the Slc46a2 transcript in exon 1 of 4 total exons. The mutated nucleotide causes an isoleucine to asparagine substitution at amino acid 352 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
| Protein Function and Prediction |
The Slc46a2 gene encodes a 479 amino acid putative transporter protein that belongs to the major facilitator superfamily. The protein contains 12 transmembrane domains. SLC46A2 is mainly expressed on cortical epithelial cells during fetal thymus development and is highly enriched in SCID thymus. It is also expressed in lymph nodes, heart, fetal liver, brain, spleen, intestine and kidney, but not in adult liver, skin, skeletal muscle and lung (Uniprot Q8CA03).
The I352N change occurs in the ninth transmembrane domain, and is predicted to be probably damaging by the PolyPhen program (see report). |
| Posted On |
2010-10-26 |
Incidental Mutation