Incidental Mutation 'R5442:Slc28a2b'
| ID |
427212 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc28a2b
|
| Ensembl Gene |
ENSMUSG00000079071 |
| Gene Name |
solute carrier family 28 member 2b |
| Synonyms |
Gm14085 |
| MMRRC Submission |
043007-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R5442 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
122315422-122358521 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122317350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 36
(N36S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110521]
|
| AlphaFold |
A2AWR5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110521
AA Change: N36S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106150
Gene: ENSMUSG00000079071
AA Change: N36S
| 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 |
noncoding transcript
Transcript: ENSMUST00000132215
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
G |
11: 119,909,594 (GRCm39) |
M114T |
probably benign |
Het |
| Ablim3 |
A |
T |
18: 61,990,296 (GRCm39) |
|
probably null |
Het |
| Adcy10 |
A |
G |
1: 165,340,709 (GRCm39) |
D238G |
probably benign |
Het |
| Astn2 |
G |
T |
4: 65,500,023 (GRCm39) |
S955R |
possibly damaging |
Het |
| Casc3 |
A |
G |
11: 98,712,297 (GRCm39) |
E112G |
probably damaging |
Het |
| Cetn4 |
C |
T |
3: 37,364,094 (GRCm39) |
V39I |
probably benign |
Het |
| Commd4 |
A |
G |
9: 57,064,090 (GRCm39) |
V37A |
possibly damaging |
Het |
| Dyrk2 |
T |
C |
10: 118,696,643 (GRCm39) |
Q205R |
possibly damaging |
Het |
| Gal3st4 |
A |
G |
5: 138,264,042 (GRCm39) |
V319A |
possibly damaging |
Het |
| Inpp5d |
G |
A |
1: 87,645,788 (GRCm39) |
A1058T |
probably benign |
Het |
| Lpin3 |
A |
G |
2: 160,746,936 (GRCm39) |
Y781C |
probably damaging |
Het |
| Lrat |
C |
T |
3: 82,810,527 (GRCm39) |
V165M |
probably damaging |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Nlrp6 |
T |
C |
7: 140,502,103 (GRCm39) |
S142P |
probably benign |
Het |
| Oas1a |
T |
C |
5: 121,035,269 (GRCm39) |
T349A |
probably benign |
Het |
| Or52e8 |
A |
T |
7: 104,624,435 (GRCm39) |
F252L |
possibly damaging |
Het |
| Or5m3b |
T |
C |
2: 85,872,295 (GRCm39) |
V212A |
probably benign |
Het |
| Or5v1 |
A |
T |
17: 37,810,330 (GRCm39) |
I263F |
probably damaging |
Het |
| Or8c20 |
T |
A |
9: 38,261,158 (GRCm39) |
S260T |
probably benign |
Het |
| Pakap |
C |
A |
4: 57,637,876 (GRCm39) |
P18Q |
probably null |
Het |
| Pcdha2 |
T |
C |
18: 37,072,915 (GRCm39) |
V182A |
probably benign |
Het |
| Phactr3 |
A |
G |
2: 177,784,254 (GRCm39) |
D26G |
probably benign |
Het |
| Phrf1 |
G |
A |
7: 140,820,850 (GRCm39) |
R159H |
probably damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Rab3ip |
T |
C |
10: 116,754,753 (GRCm39) |
T268A |
probably benign |
Het |
| Rapgef3 |
T |
C |
15: 97,656,742 (GRCm39) |
D299G |
probably damaging |
Het |
| Rem1 |
A |
G |
2: 152,469,977 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
G |
10: 5,293,473 (GRCm39) |
M1286T |
probably benign |
Het |
| Thsd7a |
T |
C |
6: 12,748,799 (GRCm39) |
T52A |
probably benign |
Het |
| Tmem135 |
A |
T |
7: 88,793,872 (GRCm39) |
F390Y |
probably damaging |
Het |
| Trio |
T |
C |
15: 27,856,280 (GRCm39) |
D696G |
probably benign |
Het |
| Ttll11 |
T |
C |
2: 35,793,135 (GRCm39) |
*191W |
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,135,083 (GRCm39) |
D805G |
probably damaging |
Het |
| Usp9y |
A |
G |
Y: 1,336,467 (GRCm39) |
I1469T |
possibly damaging |
Het |
| Vmn1r70 |
G |
T |
7: 10,367,877 (GRCm39) |
A122S |
possibly damaging |
Het |
| Vmn2r78 |
G |
T |
7: 86,569,330 (GRCm39) |
L74F |
possibly damaging |
Het |
| Wdfy3 |
T |
C |
5: 102,044,425 (GRCm39) |
E1860G |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAAGTCTGTTTCCCAGGC -3'
(R):5'- AACATGCAGTGATCCTGGTCC -3'
Sequencing Primer
(F):5'- TCTGTTTCCCAGGCCAGAGTG -3'
(R):5'- GTCCTGACTGTGAGTTAAGCAATC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation