Incidental Mutation 'IGL01559:Slc28a2'
ID |
90788 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01559
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
122256958-122291618 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 122285021 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 336
(H336Q)
|
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: H336Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000028652 Gene: ENSMUSG00000027219 AA Change: H336Q
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: H336Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106153 Gene: ENSMUSG00000027219 AA Change: H336Q
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: H336Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106154 Gene: ENSMUSG00000027219 AA Change: H336Q
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,259,020 (GRCm39) |
N2915K |
possibly damaging |
Het |
Abca5 |
T |
C |
11: 110,163,352 (GRCm39) |
N1621S |
probably benign |
Het |
Asb18 |
G |
A |
1: 89,882,172 (GRCm39) |
S122F |
probably damaging |
Het |
Atg4c |
A |
G |
4: 99,106,440 (GRCm39) |
|
probably benign |
Het |
Bbs7 |
T |
C |
3: 36,648,659 (GRCm39) |
Y363C |
probably damaging |
Het |
Celsr2 |
T |
C |
3: 108,314,183 (GRCm39) |
T1281A |
possibly damaging |
Het |
Cers1 |
A |
G |
8: 70,775,883 (GRCm39) |
N295S |
probably damaging |
Het |
Csn1s2b |
A |
T |
5: 87,968,810 (GRCm39) |
K80* |
probably null |
Het |
Dennd6a |
A |
G |
14: 26,329,720 (GRCm39) |
D97G |
probably damaging |
Het |
Dmxl1 |
A |
G |
18: 50,054,005 (GRCm39) |
Y2537C |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,001,235 (GRCm39) |
|
probably null |
Het |
Exoc4 |
A |
G |
6: 33,243,011 (GRCm39) |
T75A |
probably damaging |
Het |
Fbll1 |
T |
C |
11: 35,688,372 (GRCm39) |
E297G |
probably damaging |
Het |
Gm10642 |
T |
A |
9: 70,563,874 (GRCm39) |
D152V |
probably damaging |
Het |
Hdac3 |
A |
G |
18: 38,076,725 (GRCm39) |
|
probably benign |
Het |
Kif17 |
A |
G |
4: 138,021,080 (GRCm39) |
I850V |
probably damaging |
Het |
Or2l13 |
T |
C |
16: 19,306,209 (GRCm39) |
L207P |
probably benign |
Het |
Pi4kb |
T |
A |
3: 94,891,440 (GRCm39) |
L52Q |
probably benign |
Het |
Sec14l1 |
C |
A |
11: 117,034,110 (GRCm39) |
|
probably null |
Het |
Usp17lb |
A |
G |
7: 104,490,436 (GRCm39) |
S164P |
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 |
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 |
R0028:Slc28a2
|
UTSW |
2 |
122,282,083 (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 |
2013-12-09 |