Incidental Mutation 'R4096:Slc28a2b'
ID |
317122 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc28a2b
|
Ensembl Gene |
ENSMUSG00000079071 |
Gene Name |
solute carrier family 28 member 2b |
Synonyms |
Gm14085 |
MMRRC Submission |
041629-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R4096 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
122315422-122358521 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 122353209 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 463
(Y463C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106150
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110521]
|
AlphaFold |
A2AWR5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110521
AA Change: Y463C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106150 Gene: ENSMUSG00000079071 AA Change: Y463C
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 |
|
Meta Mutation Damage Score |
0.7815 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.2%
|
Validation Efficiency |
97% (31/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
A |
G |
5: 88,120,008 (GRCm39) |
D255G |
possibly damaging |
Het |
4930407I10Rik |
G |
A |
15: 81,946,406 (GRCm39) |
G101D |
probably benign |
Het |
Angpt2 |
G |
A |
8: 18,748,111 (GRCm39) |
A383V |
probably damaging |
Het |
Cemip2 |
G |
T |
19: 21,770,016 (GRCm39) |
M1I |
probably null |
Het |
Ctns |
A |
G |
11: 73,077,212 (GRCm39) |
M252T |
probably benign |
Het |
Dmxl1 |
T |
A |
18: 50,094,264 (GRCm39) |
H2913Q |
probably damaging |
Het |
Enox1 |
C |
T |
14: 77,815,160 (GRCm39) |
T106M |
probably damaging |
Het |
Ext1 |
A |
T |
15: 52,936,753 (GRCm39) |
V664E |
probably damaging |
Het |
Fat4 |
A |
T |
3: 38,942,024 (GRCm39) |
T306S |
possibly damaging |
Het |
Fbxl5 |
T |
C |
5: 43,915,583 (GRCm39) |
I610V |
probably benign |
Het |
Glb1l |
T |
A |
1: 75,186,084 (GRCm39) |
M1L |
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,534,259 (GRCm39) |
K3005R |
probably benign |
Het |
Homer2 |
A |
G |
7: 81,261,052 (GRCm39) |
|
probably null |
Het |
Il36b |
C |
T |
2: 24,048,826 (GRCm39) |
T77M |
possibly damaging |
Het |
Kcnq3 |
C |
A |
15: 66,157,664 (GRCm39) |
|
probably null |
Het |
Mad1l1 |
C |
T |
5: 140,293,428 (GRCm39) |
R130H |
probably benign |
Het |
Man2b1 |
A |
G |
8: 85,811,366 (GRCm39) |
E120G |
probably damaging |
Het |
Mtus1 |
T |
C |
8: 41,537,284 (GRCm39) |
D144G |
probably damaging |
Het |
Oprk1 |
T |
A |
1: 5,673,034 (GRCm39) |
|
probably benign |
Het |
Or5m10 |
T |
C |
2: 85,717,767 (GRCm39) |
S208P |
probably damaging |
Het |
Or7g17 |
T |
C |
9: 18,767,933 (GRCm39) |
I4T |
probably benign |
Het |
Or9g3 |
T |
C |
2: 85,590,040 (GRCm39) |
I227V |
possibly damaging |
Het |
Rrp12 |
A |
G |
19: 41,875,587 (GRCm39) |
I252T |
probably benign |
Het |
Sbno1 |
A |
T |
5: 124,529,983 (GRCm39) |
|
probably null |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Slc10a4-ps |
A |
G |
5: 72,743,709 (GRCm39) |
L3P |
probably damaging |
Het |
Srpk2 |
A |
T |
5: 23,745,500 (GRCm39) |
|
probably benign |
Het |
Ube3b |
A |
G |
5: 114,531,147 (GRCm39) |
T214A |
possibly damaging |
Het |
Wwc2 |
T |
C |
8: 48,295,937 (GRCm39) |
E1111G |
unknown |
Het |
Zpld1 |
C |
G |
16: 55,053,881 (GRCm39) |
D304H |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCGTGGACTCAGTTTCCAG -3'
(R):5'- TTCGCTGGATTGTCACTTACAG -3'
Sequencing Primer
(F):5'- GGACTCAGTTTCCAGGTAAAGTC -3'
(R):5'- CGCTGGATTGTCACTTACAGAAATCC -3'
|
Posted On |
2015-05-15 |