Incidental Mutation 'R0028:Slc28a2'
| ID |
18669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc28a2
|
| Ensembl Gene |
ENSMUSG00000027219 |
| Gene Name |
solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 |
| Synonyms |
CNT2, 2010208B10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R0028 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
122256958-122291618 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 122282083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 261
(F261L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106154
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028652]
[ENSMUST00000110524]
[ENSMUST00000110525]
|
| AlphaFold |
O88627 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028652
AA Change: F261L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028652
Gene: ENSMUSG00000027219
AA Change: F261L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
transmembrane domain
|
103 |
125 |
N/A |
INTRINSIC |
|
transmembrane domain
|
147 |
166 |
N/A |
INTRINSIC |
|
Pfam:Nucleos_tra2_N
|
180 |
253 |
1.5e-28 |
PFAM |
|
Pfam:Gate
|
260 |
360 |
7.9e-11 |
PFAM |
|
Pfam:Nucleos_tra2_C
|
363 |
587 |
1e-74 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110524
AA Change: F261L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106153
Gene: ENSMUSG00000027219
AA Change: F261L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
transmembrane domain
|
103 |
125 |
N/A |
INTRINSIC |
|
transmembrane domain
|
147 |
166 |
N/A |
INTRINSIC |
|
Pfam:Nucleos_tra2_N
|
180 |
254 |
8.6e-26 |
PFAM |
|
Pfam:Gate
|
260 |
387 |
2.5e-9 |
PFAM |
|
Pfam:Nucleos_tra2_C
|
363 |
588 |
5.1e-74 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110525
AA Change: F261L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106154
Gene: ENSMUSG00000027219
AA Change: F261L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
transmembrane domain
|
103 |
125 |
N/A |
INTRINSIC |
|
transmembrane domain
|
147 |
166 |
N/A |
INTRINSIC |
|
Pfam:Nucleos_tra2_N
|
180 |
254 |
8.6e-26 |
PFAM |
|
Pfam:Gate
|
260 |
387 |
2.5e-9 |
PFAM |
|
Pfam:Nucleos_tra2_C
|
363 |
588 |
5.1e-74 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153848
|
| Meta Mutation Damage Score |
0.1979 |
| Coding Region Coverage |
- 1x: 80.7%
- 3x: 72.7%
- 10x: 50.3%
- 20x: 30.1%
|
| Validation Efficiency |
96% (74/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,596,698 (GRCm39) |
F384L |
probably benign |
Het |
| AC159748.1 |
T |
C |
10: 5,542,006 (GRCm38) |
|
silent |
Het |
| Adamts12 |
C |
T |
15: 11,215,710 (GRCm39) |
R244C |
probably damaging |
Het |
| Bms1 |
T |
C |
6: 118,393,480 (GRCm39) |
I131V |
probably benign |
Het |
| Ccdc107 |
A |
G |
4: 43,495,549 (GRCm39) |
T151A |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col4a4 |
A |
G |
1: 82,465,231 (GRCm39) |
|
probably null |
Het |
| Creb1 |
A |
G |
1: 64,609,307 (GRCm39) |
D126G |
probably damaging |
Het |
| Ddb1 |
T |
A |
19: 10,596,610 (GRCm39) |
V443E |
probably damaging |
Het |
| Dnmt3a |
T |
A |
12: 3,950,337 (GRCm39) |
S634T |
probably damaging |
Het |
| Fras1 |
A |
C |
5: 96,825,175 (GRCm39) |
N1455T |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,674,395 (GRCm39) |
|
probably benign |
Het |
| Gpr141 |
C |
T |
13: 19,936,599 (GRCm39) |
V59M |
probably damaging |
Het |
| Ikbke |
T |
C |
1: 131,199,921 (GRCm39) |
I222V |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,275,895 (GRCm39) |
H6222Q |
probably damaging |
Het |
| Mapk8ip3 |
C |
T |
17: 25,123,871 (GRCm39) |
|
probably benign |
Het |
| Phactr1 |
A |
T |
13: 43,210,655 (GRCm39) |
D74V |
probably damaging |
Het |
| Prickle2 |
T |
C |
6: 92,399,323 (GRCm39) |
I185V |
probably benign |
Het |
| Rnasel |
A |
T |
1: 153,630,465 (GRCm39) |
D327V |
probably benign |
Het |
| Slc25a13 |
T |
C |
6: 6,181,047 (GRCm39) |
N46D |
probably benign |
Het |
| Slc6a15 |
A |
T |
10: 103,252,541 (GRCm39) |
Y568F |
probably benign |
Het |
| Slc7a1 |
A |
G |
5: 148,272,321 (GRCm39) |
V452A |
probably benign |
Het |
| Tectb |
T |
C |
19: 55,183,109 (GRCm39) |
I330T |
probably benign |
Het |
| Tmem92 |
C |
T |
11: 94,669,778 (GRCm39) |
V118I |
possibly damaging |
Het |
| Tmf1 |
T |
C |
6: 97,135,059 (GRCm39) |
E985G |
probably damaging |
Het |
| Traf5 |
T |
A |
1: 191,758,421 (GRCm39) |
|
probably benign |
Het |
| Trip11 |
T |
C |
12: 101,851,016 (GRCm39) |
E731G |
probably damaging |
Het |
| Unc5a |
A |
G |
13: 55,151,726 (GRCm39) |
S50G |
possibly damaging |
Het |
| Wrnip1 |
T |
C |
13: 33,004,280 (GRCm39) |
L517P |
probably damaging |
Het |
| Zfp202 |
T |
A |
9: 40,123,048 (GRCm39) |
H603Q |
probably damaging |
Het |
|
| Other mutations in Slc28a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01402:Slc28a2
|
APN |
2 |
122,282,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01404:Slc28a2
|
APN |
2 |
122,282,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01559:Slc28a2
|
APN |
2 |
122,285,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02016:Slc28a2
|
APN |
2 |
122,285,822 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02503:Slc28a2
|
APN |
2 |
122,288,693 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02576:Slc28a2
|
APN |
2 |
122,288,652 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02948:Slc28a2
|
APN |
2 |
122,288,458 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL03006:Slc28a2
|
APN |
2 |
122,283,019 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL03061:Slc28a2
|
APN |
2 |
122,284,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Slc28a2
|
UTSW |
2 |
122,285,008 (GRCm39) |
missense |
probably benign |
|
|
R0240:Slc28a2
|
UTSW |
2 |
122,285,008 (GRCm39) |
missense |
probably benign |
|
|
R0427:Slc28a2
|
UTSW |
2 |
122,288,702 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0502:Slc28a2
|
UTSW |
2 |
122,288,762 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0981:Slc28a2
|
UTSW |
2 |
122,281,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1229:Slc28a2
|
UTSW |
2 |
122,291,012 (GRCm39) |
nonsense |
probably null |
|
|
R1397:Slc28a2
|
UTSW |
2 |
122,291,012 (GRCm39) |
nonsense |
probably null |
|
|
R1641:Slc28a2
|
UTSW |
2 |
122,286,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1713:Slc28a2
|
UTSW |
2 |
122,281,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1732:Slc28a2
|
UTSW |
2 |
122,280,239 (GRCm39) |
splice site |
probably benign |
|
|
R1765:Slc28a2
|
UTSW |
2 |
122,290,876 (GRCm39) |
splice site |
probably null |
|
|
R1955:Slc28a2
|
UTSW |
2 |
122,278,347 (GRCm39) |
missense |
probably benign |
|
|
R1996:Slc28a2
|
UTSW |
2 |
122,286,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2299:Slc28a2
|
UTSW |
2 |
122,272,259 (GRCm39) |
nonsense |
probably null |
|
|
R2300:Slc28a2
|
UTSW |
2 |
122,272,259 (GRCm39) |
nonsense |
probably null |
|
|
R2510:Slc28a2
|
UTSW |
2 |
122,281,497 (GRCm39) |
nonsense |
probably null |
|
|
R4038:Slc28a2
|
UTSW |
2 |
122,284,996 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4893:Slc28a2
|
UTSW |
2 |
122,285,697 (GRCm39) |
splice site |
probably null |
|
|
R5011:Slc28a2
|
UTSW |
2 |
122,288,371 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5013:Slc28a2
|
UTSW |
2 |
122,288,371 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5185:Slc28a2
|
UTSW |
2 |
122,288,675 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6317:Slc28a2
|
UTSW |
2 |
122,284,980 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7181:Slc28a2
|
UTSW |
2 |
122,282,462 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8147:Slc28a2
|
UTSW |
2 |
122,288,682 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8528:Slc28a2
|
UTSW |
2 |
122,286,223 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8848:Slc28a2
|
UTSW |
2 |
122,290,902 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9352:Slc28a2
|
UTSW |
2 |
122,281,522 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-03-25 |
Incidental Mutation