Incidental Mutation 'R4004:Slc28a1'
| ID |
311392 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4004 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
80764547-80820164 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80818786 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 580
(S580P)
|
| 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: S580P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026820
Gene: ENSMUSG00000025726
AA Change: S580P
| 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: S580P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112421
Gene: ENSMUSG00000025726
AA Change: S580P
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(30) : Gene trapped(30) |
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
C |
7: 78,750,435 (GRCm39) |
E1735D |
probably damaging |
Het |
| Ano2 |
A |
G |
6: 125,990,242 (GRCm39) |
R788G |
probably damaging |
Het |
| Atg9a |
T |
C |
1: 75,163,095 (GRCm39) |
Y335C |
probably damaging |
Het |
| Capn10 |
T |
A |
1: 92,868,313 (GRCm39) |
L260Q |
probably damaging |
Het |
| Cblif |
T |
G |
19: 11,736,371 (GRCm39) |
V314G |
probably damaging |
Het |
| Ces1d |
A |
T |
8: 93,904,720 (GRCm39) |
F340Y |
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,454,914 (GRCm39) |
Q320R |
probably benign |
Het |
| Ctbp2 |
C |
A |
7: 132,593,502 (GRCm39) |
R733L |
probably benign |
Het |
| Dgkd |
T |
C |
1: 87,863,145 (GRCm39) |
I64T |
possibly damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,353,674 (GRCm39) |
I765V |
probably benign |
Het |
| Dync2h1 |
C |
A |
9: 7,117,404 (GRCm39) |
C62F |
probably damaging |
Het |
| F2 |
T |
C |
2: 91,458,741 (GRCm39) |
N523S |
possibly damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fcgr1 |
A |
G |
3: 96,191,668 (GRCm39) |
V380A |
probably benign |
Het |
| Herc2 |
C |
A |
7: 55,756,213 (GRCm39) |
P751Q |
possibly damaging |
Het |
| Ikzf3 |
C |
T |
11: 98,379,843 (GRCm39) |
E142K |
probably damaging |
Het |
| Kctd3 |
A |
G |
1: 188,724,940 (GRCm39) |
S214P |
probably benign |
Het |
| Lrpap1 |
T |
A |
5: 35,262,888 (GRCm39) |
K50* |
probably null |
Het |
| Naa11 |
A |
T |
5: 97,539,652 (GRCm39) |
Y169N |
probably benign |
Het |
| Nup42 |
T |
C |
5: 24,387,434 (GRCm39) |
I408T |
probably damaging |
Het |
| Or1af1 |
A |
T |
2: 37,109,960 (GRCm39) |
H153L |
probably benign |
Het |
| Or2t35 |
C |
T |
14: 14,408,152 (GRCm38) |
A308V |
probably benign |
Het |
| Plxnc1 |
G |
A |
10: 94,630,459 (GRCm39) |
Q1512* |
probably null |
Het |
| Ptpn14 |
A |
G |
1: 189,582,707 (GRCm39) |
N518S |
probably benign |
Het |
| Rapgef5 |
A |
G |
12: 117,712,132 (GRCm39) |
I740V |
probably damaging |
Het |
| Ric1 |
C |
T |
19: 29,557,201 (GRCm39) |
R429C |
probably benign |
Het |
| Rpn2 |
T |
C |
2: 157,159,928 (GRCm39) |
L548P |
probably damaging |
Het |
| Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
| Slco6c1 |
A |
G |
1: 97,003,610 (GRCm39) |
Y496H |
probably damaging |
Het |
| Spag5 |
T |
C |
11: 78,212,355 (GRCm39) |
M1101T |
probably benign |
Het |
| Utp11 |
A |
T |
4: 124,576,230 (GRCm39) |
F138I |
probably damaging |
Het |
| Vcp |
G |
A |
4: 42,983,028 (GRCm39) |
T606I |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
| Zfp316 |
A |
G |
5: 143,240,874 (GRCm39) |
S382P |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTGGATGCTGGGCCAGAG -3'
(R):5'- GTAAACCTCAAAGCTGCTGC -3'
Sequencing Primer
(F):5'- CTGGGCCAGAGAGCAAAGC -3'
(R):5'- CAGTTTGGTTCAGAAGAGACATGC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation