Incidental Mutation 'R5494:Slc28a1'
| ID |
432236 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc28a1
|
| Ensembl Gene |
ENSMUSG00000025726 |
| Gene Name |
solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 |
| Synonyms |
Cnt1 |
| MMRRC Submission |
043055-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R5494 (G1)
|
| Quality Score |
173 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
80764547-80820164 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 80817787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 552
(G552E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026820]
[ENSMUST00000119083]
|
| AlphaFold |
E9PXX9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026820
AA Change: G552E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026820
Gene: ENSMUSG00000025726
AA Change: G552E
| 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 damaging
Transcript: ENSMUST00000119083
AA Change: G552E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112421
Gene: ENSMUSG00000025726
AA Change: G552E
| 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 |
- 1x: 98.3%
- 3x: 97.4%
- 10x: 95.3%
- 20x: 91.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(30) : Gene trapped(30) |
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak9 |
A |
G |
10: 41,223,165 (GRCm39) |
E436G |
probably damaging |
Het |
| Aldh18a1 |
C |
T |
19: 40,539,734 (GRCm39) |
R747Q |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,061,762 (GRCm39) |
N3415D |
probably damaging |
Het |
| Asb18 |
T |
C |
1: 89,882,121 (GRCm39) |
E139G |
probably damaging |
Het |
| Atrn |
T |
C |
2: 130,864,995 (GRCm39) |
L1374P |
probably damaging |
Het |
| Ccdc81 |
A |
G |
7: 89,526,781 (GRCm39) |
S410P |
probably damaging |
Het |
| Cep112 |
A |
G |
11: 108,555,431 (GRCm39) |
E809G |
probably damaging |
Het |
| Dctn1 |
G |
T |
6: 83,159,546 (GRCm39) |
R8L |
possibly damaging |
Het |
| Ddn |
C |
A |
15: 98,704,884 (GRCm39) |
R82L |
probably damaging |
Het |
| Dgkz |
A |
T |
2: 91,771,394 (GRCm39) |
|
probably null |
Het |
| Eif4a3l1 |
C |
G |
6: 136,306,555 (GRCm39) |
R339G |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 82,858,990 (GRCm39) |
*415W |
probably null |
Het |
| Fry |
A |
T |
5: 150,314,132 (GRCm39) |
D789V |
probably damaging |
Het |
| Fzr1 |
C |
T |
10: 81,207,178 (GRCm39) |
|
probably null |
Het |
| Gemin5 |
T |
A |
11: 58,021,526 (GRCm39) |
Y1025F |
probably damaging |
Het |
| Gjb5 |
C |
T |
4: 127,249,347 (GRCm39) |
V266M |
probably damaging |
Het |
| Gli3 |
A |
T |
13: 15,900,567 (GRCm39) |
Q1318L |
probably benign |
Het |
| Golgb1 |
T |
A |
16: 36,749,045 (GRCm39) |
N3056K |
possibly damaging |
Het |
| Gucy1b1 |
T |
A |
3: 81,947,183 (GRCm39) |
D342V |
probably damaging |
Het |
| H1f9 |
T |
C |
11: 94,858,843 (GRCm39) |
L46S |
probably benign |
Het |
| Hc |
A |
T |
2: 34,893,551 (GRCm39) |
|
probably null |
Het |
| Heg1 |
A |
G |
16: 33,545,804 (GRCm39) |
D185G |
probably benign |
Het |
| Igf2r |
A |
T |
17: 12,912,032 (GRCm39) |
M1865K |
possibly damaging |
Het |
| Il27 |
A |
G |
7: 126,192,100 (GRCm39) |
L12P |
probably damaging |
Het |
| Krt1 |
C |
T |
15: 101,759,149 (GRCm39) |
C5Y |
unknown |
Het |
| Med25 |
C |
T |
7: 44,535,225 (GRCm39) |
V170M |
probably damaging |
Het |
| Mgat4a |
T |
A |
1: 37,493,898 (GRCm39) |
Y316F |
probably damaging |
Het |
| Oas3 |
A |
G |
5: 120,899,709 (GRCm39) |
V725A |
unknown |
Het |
| Or52ac1 |
C |
A |
7: 104,245,932 (GRCm39) |
G152V |
probably damaging |
Het |
| Or5w16 |
T |
C |
2: 87,576,950 (GRCm39) |
S137P |
probably damaging |
Het |
| Pcdhb17 |
T |
C |
18: 37,620,300 (GRCm39) |
S697P |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,075,579 (GRCm39) |
Y751C |
probably damaging |
Het |
| Rbms2 |
G |
T |
10: 127,973,560 (GRCm39) |
T252N |
probably damaging |
Het |
| Rbpjl |
GCC |
GC |
2: 164,256,330 (GRCm39) |
|
probably null |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Scfd1 |
A |
G |
12: 51,443,522 (GRCm39) |
|
probably null |
Het |
| Shank3 |
C |
T |
15: 89,432,441 (GRCm39) |
T1062M |
probably damaging |
Het |
| Sntn |
A |
G |
14: 13,682,214 (GRCm38) |
R96G |
probably benign |
Het |
| Tas2r102 |
T |
C |
6: 132,740,106 (GRCm39) |
V338A |
probably benign |
Het |
| Trim62 |
A |
T |
4: 128,778,999 (GRCm39) |
N145Y |
possibly damaging |
Het |
| Tspoap1 |
C |
T |
11: 87,666,031 (GRCm39) |
T863I |
possibly damaging |
Het |
| Ubr5 |
C |
T |
15: 38,019,525 (GRCm39) |
C739Y |
possibly damaging |
Het |
| Vps13c |
G |
A |
9: 67,855,428 (GRCm39) |
V2498I |
probably benign |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATCACAGGGGCTCCAAGAC -3'
(R):5'- ACGTTCATGAGGGACCTTCC -3'
Sequencing Primer
(F):5'- GGCTCCAAGACCAAGGC -3'
(R):5'- GCAGAGGTAAGCCAGAAAACTCAC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation