Incidental Mutation 'IGL00959:Slc28a1'
| ID |
27885 |
| 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: 0.105)
|
| Stock # |
IGL00959
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
80764547-80820164 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 80818816 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026820]
[ENSMUST00000119083]
|
| AlphaFold |
E9PXX9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026820
|
| SMART Domains |
Protein: ENSMUSP00000026820
Gene: ENSMUSG00000025726
| 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
|
| SMART Domains |
Protein: ENSMUSP00000112421
Gene: ENSMUSG00000025726
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox12b |
A |
T |
11: 69,057,069 (GRCm39) |
H430L |
probably damaging |
Het |
| Aox4 |
G |
T |
1: 58,278,333 (GRCm39) |
V443F |
probably damaging |
Het |
| Bmpr2 |
A |
T |
1: 59,854,474 (GRCm39) |
I108F |
possibly damaging |
Het |
| Cflar |
G |
A |
1: 58,768,321 (GRCm39) |
|
probably null |
Het |
| Chchd3 |
A |
G |
6: 32,945,188 (GRCm39) |
V106A |
probably benign |
Het |
| Chl1 |
G |
T |
6: 103,686,211 (GRCm39) |
|
probably null |
Het |
| Clvs2 |
C |
T |
10: 33,404,459 (GRCm39) |
M252I |
probably benign |
Het |
| Cntnap5a |
T |
A |
1: 116,112,057 (GRCm39) |
L449Q |
probably benign |
Het |
| Col6a2 |
T |
A |
10: 76,450,368 (GRCm39) |
I188F |
probably damaging |
Het |
| Cyp2c55 |
A |
G |
19: 39,026,587 (GRCm39) |
D398G |
probably benign |
Het |
| Dennd1b |
T |
C |
1: 139,071,626 (GRCm39) |
|
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,369,484 (GRCm39) |
Y106N |
probably damaging |
Het |
| Dpy19l1 |
A |
T |
9: 24,334,493 (GRCm39) |
|
probably null |
Het |
| Extl3 |
C |
T |
14: 65,314,361 (GRCm39) |
V274I |
probably benign |
Het |
| Fras1 |
G |
A |
5: 96,929,140 (GRCm39) |
R3848H |
probably damaging |
Het |
| Gm11437 |
A |
C |
11: 84,039,448 (GRCm39) |
|
probably benign |
Het |
| Gss |
T |
A |
2: 155,423,871 (GRCm39) |
D2V |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Ilvbl |
G |
A |
10: 78,419,739 (GRCm39) |
D548N |
probably damaging |
Het |
| Jmjd6 |
A |
T |
11: 116,733,202 (GRCm39) |
D115E |
possibly damaging |
Het |
| Kidins220 |
T |
A |
12: 25,101,132 (GRCm39) |
S1110R |
possibly damaging |
Het |
| Kmt2c |
T |
A |
5: 25,481,227 (GRCm39) |
I4784F |
probably damaging |
Het |
| Mrpl52 |
T |
C |
14: 54,664,494 (GRCm39) |
V11A |
possibly damaging |
Het |
| Myo3b |
A |
G |
2: 70,144,636 (GRCm39) |
Y1036C |
probably damaging |
Het |
| Omp |
T |
C |
7: 97,794,357 (GRCm39) |
D90G |
probably damaging |
Het |
| Or6c2b |
T |
A |
10: 128,947,893 (GRCm39) |
M134L |
probably benign |
Het |
| Osmr |
T |
C |
15: 6,854,086 (GRCm39) |
I541V |
probably benign |
Het |
| Ppp2r1a |
A |
T |
17: 21,181,840 (GRCm39) |
|
probably benign |
Het |
| Ptpn13 |
T |
A |
5: 103,665,437 (GRCm39) |
|
probably null |
Het |
| Rock2 |
C |
A |
12: 17,028,056 (GRCm39) |
N1429K |
probably benign |
Het |
| Saxo4 |
A |
T |
19: 10,454,887 (GRCm39) |
|
probably null |
Het |
| Slc25a20 |
T |
G |
9: 108,559,198 (GRCm39) |
M188R |
possibly damaging |
Het |
| Sult2a6 |
T |
C |
7: 13,988,634 (GRCm39) |
Y42C |
probably damaging |
Het |
| Tgfb2 |
A |
G |
1: 186,436,784 (GRCm39) |
V63A |
probably benign |
Het |
| Ugt2b38 |
A |
T |
5: 87,559,682 (GRCm39) |
N403K |
probably damaging |
Het |
| Vmn2r29 |
A |
G |
7: 7,244,855 (GRCm39) |
W340R |
probably benign |
Het |
| Wnt5a |
C |
T |
14: 28,244,866 (GRCm39) |
T351M |
probably damaging |
Het |
|
| Other mutations in Slc28a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02695:Slc28a1
|
APN |
7 |
80,817,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2013-04-17 |
Incidental Mutation