Incidental Mutation 'IGL01160:Slc28a2b'
| ID |
53422 |
| 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: 0.079)
|
| Stock # |
IGL01160
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
122315422-122358521 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to C
at 122355277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110521]
[ENSMUST00000110521]
|
| AlphaFold |
A2AWR5 |
| Predicted Effect |
probably null
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 |
|
| Predicted Effect |
probably null
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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp11a |
A |
G |
8: 12,894,609 (GRCm39) |
T188A |
probably damaging |
Het |
| Bfsp2 |
A |
G |
9: 103,357,367 (GRCm39) |
V20A |
probably benign |
Het |
| Btn1a1 |
G |
A |
13: 23,645,907 (GRCm39) |
T154M |
possibly damaging |
Het |
| Ccdc117 |
T |
C |
11: 5,481,532 (GRCm39) |
S200G |
probably benign |
Het |
| Col24a1 |
G |
A |
3: 145,213,468 (GRCm39) |
G1358S |
probably damaging |
Het |
| Crlf2 |
T |
C |
5: 109,705,436 (GRCm39) |
T40A |
possibly damaging |
Het |
| Cstf2 |
T |
A |
X: 132,961,478 (GRCm39) |
|
probably benign |
Het |
| Dcdc2a |
A |
G |
13: 25,303,312 (GRCm39) |
D281G |
probably benign |
Het |
| Dmd |
T |
C |
X: 82,968,567 (GRCm39) |
L1855P |
probably damaging |
Het |
| Dnajc5g |
T |
C |
5: 31,267,529 (GRCm39) |
V112A |
probably benign |
Het |
| Dnmt1 |
G |
A |
9: 20,828,615 (GRCm39) |
P828S |
possibly damaging |
Het |
| Dock3 |
A |
T |
9: 106,783,887 (GRCm39) |
S268R |
probably damaging |
Het |
| Dpep2 |
C |
T |
8: 106,713,076 (GRCm39) |
V440M |
possibly damaging |
Het |
| F8 |
A |
T |
X: 74,331,667 (GRCm39) |
M741K |
probably damaging |
Het |
| Fermt3 |
C |
T |
19: 6,980,626 (GRCm39) |
|
probably null |
Het |
| Fosb |
A |
G |
7: 19,041,039 (GRCm39) |
|
probably null |
Het |
| Gm3238 |
C |
A |
10: 77,606,717 (GRCm39) |
|
probably benign |
Het |
| Hyal5 |
T |
A |
6: 24,876,480 (GRCm39) |
S118T |
possibly damaging |
Het |
| Igf2r |
T |
C |
17: 12,923,662 (GRCm39) |
D1140G |
possibly damaging |
Het |
| Ighmbp2 |
G |
T |
19: 3,326,750 (GRCm39) |
|
probably benign |
Het |
| Irf3 |
C |
A |
7: 44,648,220 (GRCm39) |
D28E |
possibly damaging |
Het |
| Ly6i |
A |
T |
15: 74,851,881 (GRCm39) |
I96N |
possibly damaging |
Het |
| Macrod2 |
T |
C |
2: 140,666,962 (GRCm39) |
|
probably benign |
Het |
| Or2b4 |
A |
G |
17: 38,116,941 (GRCm39) |
R302G |
probably benign |
Het |
| Or4c117 |
A |
T |
2: 88,956,072 (GRCm39) |
M1K |
probably null |
Het |
| Or4f15 |
A |
G |
2: 111,814,278 (GRCm39) |
L47P |
probably damaging |
Het |
| Or52z1 |
C |
T |
7: 103,436,843 (GRCm39) |
G214R |
probably damaging |
Het |
| Otof |
A |
T |
5: 30,538,879 (GRCm39) |
M1128K |
probably benign |
Het |
| Parp9 |
A |
T |
16: 35,768,368 (GRCm39) |
I183F |
probably damaging |
Het |
| Pbsn |
T |
C |
X: 76,886,177 (GRCm39) |
N147S |
probably benign |
Het |
| Pcf11 |
A |
G |
7: 92,310,894 (GRCm39) |
S365P |
possibly damaging |
Het |
| Pcnx4 |
T |
G |
12: 72,626,151 (GRCm39) |
V1119G |
probably damaging |
Het |
| Qng1 |
A |
G |
13: 58,529,790 (GRCm39) |
V274A |
probably damaging |
Het |
| Rsf1 |
C |
T |
7: 97,334,791 (GRCm39) |
T1308M |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,854,024 (GRCm39) |
L647P |
probably damaging |
Het |
| Slc7a8 |
A |
G |
14: 54,972,581 (GRCm39) |
V280A |
probably benign |
Het |
| Spart |
T |
A |
3: 55,029,177 (GRCm39) |
F323I |
probably damaging |
Het |
| Supt16 |
A |
T |
14: 52,420,589 (GRCm39) |
D70E |
probably benign |
Het |
| Tmc4 |
T |
C |
7: 3,678,517 (GRCm39) |
Y38C |
possibly damaging |
Het |
| Tmco5b |
G |
T |
2: 113,118,143 (GRCm39) |
|
probably benign |
Het |
| Trav10 |
G |
A |
14: 53,743,239 (GRCm39) |
|
probably benign |
Het |
| Vmn2r28 |
A |
T |
7: 5,489,477 (GRCm39) |
M454K |
probably damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,254,690 (GRCm39) |
T665A |
probably benign |
Het |
| Yipf7 |
T |
C |
5: 69,676,660 (GRCm39) |
I160V |
probably benign |
Het |
| Zc3h18 |
T |
C |
8: 123,134,989 (GRCm39) |
|
probably benign |
Het |
| Zfp429 |
G |
A |
13: 67,539,132 (GRCm39) |
S91L |
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 |
|
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 |
|
IGL02999:Slc28a2b
|
APN |
2 |
122,344,995 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2013-06-28 |
Incidental Mutation