Incidental Mutation 'IGL02999:Slc28a2b'
| ID |
407256 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc28a2b
|
| Ensembl Gene |
ENSMUSG00000079071 |
| Gene Name |
solute carrier family 28 member 2b |
| Synonyms |
Gm14085 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
IGL02999
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
122315422-122358521 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 122344995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110521]
|
| AlphaFold |
A2AWR5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110521
|
| SMART Domains |
Protein: ENSMUSP00000106150
Gene: ENSMUSG00000079071
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
transmembrane domain
|
103 |
125 |
N/A |
INTRINSIC |
|
transmembrane domain
|
149 |
166 |
N/A |
INTRINSIC |
|
Pfam:Nucleos_tra2_N
|
180 |
253 |
2.3e-28 |
PFAM |
|
Pfam:Gate
|
260 |
360 |
1.7e-10 |
PFAM |
|
Pfam:Nucleos_tra2_C
|
363 |
587 |
4.6e-70 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
A |
10: 78,903,424 (GRCm39) |
R297S |
possibly damaging |
Het |
| Abca13 |
G |
A |
11: 9,531,757 (GRCm39) |
|
probably benign |
Het |
| Acot12 |
T |
A |
13: 91,908,100 (GRCm39) |
V94D |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,726,973 (GRCm39) |
A460T |
probably benign |
Het |
| Atp8a2 |
C |
A |
14: 60,162,571 (GRCm39) |
E717* |
probably null |
Het |
| Brinp3 |
A |
T |
1: 146,577,587 (GRCm39) |
|
probably null |
Het |
| Camk1d |
C |
A |
2: 5,359,516 (GRCm39) |
V177L |
probably benign |
Het |
| Chst11 |
A |
G |
10: 83,027,538 (GRCm39) |
I322V |
possibly damaging |
Het |
| Cobl |
T |
C |
11: 12,293,869 (GRCm39) |
T296A |
possibly damaging |
Het |
| Dcc |
A |
C |
18: 71,511,749 (GRCm39) |
F869V |
possibly damaging |
Het |
| Dock2 |
G |
T |
11: 34,583,086 (GRCm39) |
T609K |
probably damaging |
Het |
| Ercc5 |
A |
G |
1: 44,206,814 (GRCm39) |
T576A |
probably benign |
Het |
| Faf1 |
A |
G |
4: 109,719,090 (GRCm39) |
I399V |
probably benign |
Het |
| Fndc3b |
T |
G |
3: 27,592,388 (GRCm39) |
E170A |
probably damaging |
Het |
| Ggt7 |
C |
A |
2: 155,344,633 (GRCm39) |
V237L |
probably benign |
Het |
| Hectd1 |
G |
T |
12: 51,874,205 (GRCm39) |
Q24K |
possibly damaging |
Het |
| Krt19 |
T |
C |
11: 100,032,235 (GRCm39) |
|
probably benign |
Het |
| Lilrb4a |
T |
C |
10: 51,370,239 (GRCm39) |
L259P |
probably damaging |
Het |
| Limd1 |
T |
C |
9: 123,345,864 (GRCm39) |
Y548H |
probably damaging |
Het |
| Lingo2 |
A |
G |
4: 35,708,744 (GRCm39) |
I412T |
probably damaging |
Het |
| Lrrc34 |
T |
A |
3: 30,688,782 (GRCm39) |
Q173L |
probably damaging |
Het |
| Lrrn3 |
A |
T |
12: 41,502,750 (GRCm39) |
N522K |
probably benign |
Het |
| Mgat4e |
A |
C |
1: 134,468,928 (GRCm39) |
L372R |
probably damaging |
Het |
| Nedd4l |
A |
G |
18: 65,331,778 (GRCm39) |
D638G |
probably damaging |
Het |
| Olfm3 |
T |
C |
3: 114,916,397 (GRCm39) |
M423T |
probably damaging |
Het |
| Or8g54 |
T |
C |
9: 39,706,752 (GRCm39) |
L27P |
probably damaging |
Het |
| Pcsk7 |
T |
A |
9: 45,838,897 (GRCm39) |
I603N |
possibly damaging |
Het |
| Ptpn2 |
A |
G |
18: 67,814,580 (GRCm39) |
V143A |
probably damaging |
Het |
| Rabgap1 |
C |
A |
2: 37,373,838 (GRCm39) |
D283E |
possibly damaging |
Het |
| Reln |
G |
A |
5: 22,200,363 (GRCm39) |
S1379F |
probably damaging |
Het |
| Rpap2 |
T |
A |
5: 107,749,697 (GRCm39) |
F74I |
possibly damaging |
Het |
| Sel1l2 |
T |
C |
2: 140,072,724 (GRCm39) |
E637G |
probably damaging |
Het |
| St18 |
T |
A |
1: 6,887,829 (GRCm39) |
V466E |
probably benign |
Het |
| Stac |
C |
A |
9: 111,433,198 (GRCm39) |
G207C |
probably damaging |
Het |
| Stra6 |
T |
A |
9: 58,042,396 (GRCm39) |
N8K |
probably benign |
Het |
| Sytl4 |
C |
T |
X: 132,838,727 (GRCm39) |
R649Q |
probably benign |
Het |
| Tas1r3 |
A |
G |
4: 155,946,816 (GRCm39) |
V263A |
probably damaging |
Het |
| Tprg1 |
T |
C |
16: 25,136,218 (GRCm39) |
Y70H |
probably damaging |
Het |
|
| Other mutations in Slc28a2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00964:Slc28a2b
|
APN |
2 |
122,347,527 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01160:Slc28a2b
|
APN |
2 |
122,355,277 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01838:Slc28a2b
|
APN |
2 |
122,348,464 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL01895:Slc28a2b
|
APN |
2 |
122,355,572 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
Wilted
|
UTSW |
2 |
122,353,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
K2124:Slc28a2b
|
UTSW |
2 |
122,355,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0084:Slc28a2b
|
UTSW |
2 |
122,353,314 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0092:Slc28a2b
|
UTSW |
2 |
122,348,078 (GRCm39) |
splice site |
probably benign |
|
|
R0127:Slc28a2b
|
UTSW |
2 |
122,347,550 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0200:Slc28a2b
|
UTSW |
2 |
122,357,928 (GRCm39) |
makesense |
probably null |
|
|
R0276:Slc28a2b
|
UTSW |
2 |
122,352,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0309:Slc28a2b
|
UTSW |
2 |
122,348,034 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0403:Slc28a2b
|
UTSW |
2 |
122,352,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0600:Slc28a2b
|
UTSW |
2 |
122,344,879 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0612:Slc28a2b
|
UTSW |
2 |
122,352,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1676:Slc28a2b
|
UTSW |
2 |
122,352,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1801:Slc28a2b
|
UTSW |
2 |
122,352,133 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1986:Slc28a2b
|
UTSW |
2 |
122,357,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2050:Slc28a2b
|
UTSW |
2 |
122,353,349 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3078:Slc28a2b
|
UTSW |
2 |
122,344,895 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4075:Slc28a2b
|
UTSW |
2 |
122,344,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4096:Slc28a2b
|
UTSW |
2 |
122,353,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4744:Slc28a2b
|
UTSW |
2 |
122,353,286 (GRCm39) |
nonsense |
probably null |
|
|
R4796:Slc28a2b
|
UTSW |
2 |
122,344,940 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5033:Slc28a2b
|
UTSW |
2 |
122,353,395 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5069:Slc28a2b
|
UTSW |
2 |
122,324,854 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5288:Slc28a2b
|
UTSW |
2 |
122,353,259 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5385:Slc28a2b
|
UTSW |
2 |
122,353,259 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5386:Slc28a2b
|
UTSW |
2 |
122,353,259 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5442:Slc28a2b
|
UTSW |
2 |
122,317,350 (GRCm39) |
missense |
probably benign |
|
|
R5795:Slc28a2b
|
UTSW |
2 |
122,348,475 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6258:Slc28a2b
|
UTSW |
2 |
122,353,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6260:Slc28a2b
|
UTSW |
2 |
122,353,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6383:Slc28a2b
|
UTSW |
2 |
122,355,288 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7226:Slc28a2b
|
UTSW |
2 |
122,353,013 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7574:Slc28a2b
|
UTSW |
2 |
122,353,325 (GRCm39) |
missense |
not run |
|
|
R7633:Slc28a2b
|
UTSW |
2 |
122,317,161 (GRCm39) |
missense |
probably null |
0.05 |
|
R7705:Slc28a2b
|
UTSW |
2 |
122,352,110 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7726:Slc28a2b
|
UTSW |
2 |
122,317,214 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7998:Slc28a2b
|
UTSW |
2 |
122,324,839 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8269:Slc28a2b
|
UTSW |
2 |
122,352,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8337:Slc28a2b
|
UTSW |
2 |
122,355,617 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8546:Slc28a2b
|
UTSW |
2 |
122,353,235 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8817:Slc28a2b
|
UTSW |
2 |
122,348,988 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8931:Slc28a2b
|
UTSW |
2 |
122,348,983 (GRCm39) |
missense |
|
|
|
R9070:Slc28a2b
|
UTSW |
2 |
122,352,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9542:Slc28a2b
|
UTSW |
2 |
122,324,822 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9702:Slc28a2b
|
UTSW |
2 |
122,354,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9782:Slc28a2b
|
UTSW |
2 |
122,352,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation