Incidental Mutation 'IGL02695:Slc28a1'
| ID |
303884 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc28a1
|
| Ensembl Gene |
ENSMUSG00000025726 |
| Gene Name |
solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 |
| Synonyms |
Cnt1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
IGL02695
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
80764547-80820164 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80817739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 536
(Y536F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026820]
[ENSMUST00000119083]
|
| AlphaFold |
E9PXX9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026820
AA Change: Y536F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000026820
Gene: ENSMUSG00000025726
AA Change: Y536F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
82 |
104 |
N/A |
INTRINSIC |
|
transmembrane domain
|
109 |
128 |
N/A |
INTRINSIC |
|
transmembrane domain
|
149 |
168 |
N/A |
INTRINSIC |
|
Pfam:Nucleos_tra2_N
|
183 |
257 |
1e-24 |
PFAM |
|
Pfam:Gate
|
263 |
392 |
5.5e-10 |
PFAM |
|
Pfam:Nucleos_tra2_C
|
366 |
591 |
4e-74 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119083
AA Change: Y536F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000112421
Gene: ENSMUSG00000025726
AA Change: Y536F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
82 |
104 |
N/A |
INTRINSIC |
|
transmembrane domain
|
109 |
128 |
N/A |
INTRINSIC |
|
transmembrane domain
|
149 |
168 |
N/A |
INTRINSIC |
|
Pfam:Nucleos_tra2_N
|
183 |
256 |
4.8e-27 |
PFAM |
|
Pfam:Gate
|
263 |
364 |
1.1e-9 |
PFAM |
|
Pfam:Nucleos_tra2_C
|
366 |
590 |
9.2e-76 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(30) : Gene trapped(30) |
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
A |
T |
14: 66,287,929 (GRCm39) |
M389K |
probably benign |
Het |
| Adamts4 |
C |
A |
1: 171,080,203 (GRCm39) |
T252K |
probably damaging |
Het |
| Adgrb2 |
G |
A |
4: 129,912,625 (GRCm39) |
G1293D |
probably damaging |
Het |
| Ankfn1 |
T |
C |
11: 89,282,645 (GRCm39) |
E1013G |
probably damaging |
Het |
| Ankrd34b |
C |
A |
13: 92,576,120 (GRCm39) |
H451N |
possibly damaging |
Het |
| Cd300c2 |
C |
T |
11: 114,892,379 (GRCm39) |
|
probably benign |
Het |
| Cntnap3 |
T |
G |
13: 64,919,946 (GRCm39) |
Q637P |
probably benign |
Het |
| Cpne6 |
A |
T |
14: 55,752,037 (GRCm39) |
I265F |
probably damaging |
Het |
| Dot1l |
C |
A |
10: 80,613,442 (GRCm39) |
T18K |
probably damaging |
Het |
| Fam83c |
T |
C |
2: 155,673,435 (GRCm39) |
D251G |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,610,402 (GRCm39) |
K325R |
probably damaging |
Het |
| Gas2l2 |
T |
A |
11: 83,313,468 (GRCm39) |
I615F |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,344,549 (GRCm39) |
N494S |
probably benign |
Het |
| Gnaz |
T |
C |
10: 74,827,974 (GRCm39) |
|
probably null |
Het |
| Haus5 |
A |
T |
7: 30,362,702 (GRCm39) |
L36Q |
probably damaging |
Het |
| Hecw2 |
C |
T |
1: 53,965,368 (GRCm39) |
G486D |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,298,985 (GRCm39) |
F2777S |
possibly damaging |
Het |
| Il1rl1 |
T |
C |
1: 40,485,718 (GRCm39) |
S290P |
possibly damaging |
Het |
| Itgam |
G |
T |
7: 127,685,113 (GRCm39) |
A409S |
possibly damaging |
Het |
| Kdm5b |
T |
A |
1: 134,532,223 (GRCm39) |
M467K |
possibly damaging |
Het |
| Lama2 |
A |
C |
10: 26,876,771 (GRCm39) |
V2725G |
probably benign |
Het |
| Lhpp |
G |
A |
7: 132,252,063 (GRCm39) |
R234Q |
probably damaging |
Het |
| Maf1 |
T |
C |
15: 76,236,955 (GRCm39) |
S65P |
possibly damaging |
Het |
| Mgat5 |
T |
A |
1: 127,339,868 (GRCm39) |
H416Q |
probably damaging |
Het |
| Mta2 |
A |
G |
19: 8,925,728 (GRCm39) |
T408A |
probably benign |
Het |
| Neb |
T |
A |
2: 52,145,603 (GRCm39) |
I2974F |
probably damaging |
Het |
| Neb |
C |
T |
2: 52,101,608 (GRCm39) |
|
probably benign |
Het |
| Or1j19 |
C |
T |
2: 36,677,332 (GRCm39) |
S265L |
possibly damaging |
Het |
| Or2d4 |
A |
G |
7: 106,543,870 (GRCm39) |
S113P |
possibly damaging |
Het |
| Or52p1 |
A |
G |
7: 104,267,678 (GRCm39) |
H264R |
probably damaging |
Het |
| Or5w22 |
C |
T |
2: 87,362,461 (GRCm39) |
T28I |
probably benign |
Het |
| Pcca |
T |
A |
14: 122,820,150 (GRCm39) |
|
probably benign |
Het |
| Prlr |
T |
C |
15: 10,328,451 (GRCm39) |
F309L |
probably benign |
Het |
| Slco1a8 |
A |
G |
6: 141,933,486 (GRCm39) |
V433A |
probably damaging |
Het |
| Stab1 |
T |
A |
14: 30,881,228 (GRCm39) |
N601Y |
probably damaging |
Het |
| Stil |
G |
T |
4: 114,873,372 (GRCm39) |
V332F |
probably damaging |
Het |
| Stk11 |
A |
G |
10: 79,961,311 (GRCm39) |
|
probably null |
Het |
| Tmem59 |
A |
G |
4: 107,050,511 (GRCm39) |
N147S |
probably benign |
Het |
|
| Other mutations in Slc28a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00959:Slc28a1
|
APN |
7 |
80,818,816 (GRCm39) |
splice site |
probably benign |
|
|
IGL01386:Slc28a1
|
APN |
7 |
80,814,427 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02586:Slc28a1
|
APN |
7 |
80,814,167 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02836:Slc28a1
|
APN |
7 |
80,775,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
7510:Slc28a1
|
UTSW |
7 |
80,819,017 (GRCm39) |
missense |
probably benign |
|
|
R0206:Slc28a1
|
UTSW |
7 |
80,767,454 (GRCm39) |
splice site |
probably benign |
|
|
R0208:Slc28a1
|
UTSW |
7 |
80,767,454 (GRCm39) |
splice site |
probably benign |
|
|
R0379:Slc28a1
|
UTSW |
7 |
80,787,925 (GRCm39) |
missense |
probably benign |
|
|
R0733:Slc28a1
|
UTSW |
7 |
80,774,648 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1435:Slc28a1
|
UTSW |
7 |
80,803,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1827:Slc28a1
|
UTSW |
7 |
80,787,950 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1909:Slc28a1
|
UTSW |
7 |
80,791,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1917:Slc28a1
|
UTSW |
7 |
80,819,334 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2147:Slc28a1
|
UTSW |
7 |
80,776,015 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3804:Slc28a1
|
UTSW |
7 |
80,775,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4004:Slc28a1
|
UTSW |
7 |
80,818,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4967:Slc28a1
|
UTSW |
7 |
80,791,757 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5055:Slc28a1
|
UTSW |
7 |
80,818,796 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5256:Slc28a1
|
UTSW |
7 |
80,771,869 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5494:Slc28a1
|
UTSW |
7 |
80,817,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5924:Slc28a1
|
UTSW |
7 |
80,765,360 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6062:Slc28a1
|
UTSW |
7 |
80,765,311 (GRCm39) |
nonsense |
probably null |
|
|
R6229:Slc28a1
|
UTSW |
7 |
80,774,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6737:Slc28a1
|
UTSW |
7 |
80,818,996 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8177:Slc28a1
|
UTSW |
7 |
80,814,164 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8747:Slc28a1
|
UTSW |
7 |
80,774,719 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8830:Slc28a1
|
UTSW |
7 |
80,810,794 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8930:Slc28a1
|
UTSW |
7 |
80,817,715 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8932:Slc28a1
|
UTSW |
7 |
80,817,715 (GRCm39) |
missense |
probably benign |
0.07 |
|
RF018:Slc28a1
|
UTSW |
7 |
80,819,032 (GRCm39) |
splice site |
probably null |
|
|
X0020:Slc28a1
|
UTSW |
7 |
80,774,711 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1088:Slc28a1
|
UTSW |
7 |
80,787,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation