Incidental Mutation 'R3727:Slc52a3'
| ID |
270818 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc52a3
|
| Ensembl Gene |
ENSMUSG00000027463 |
| Gene Name |
solute carrier protein family 52, member 3 |
| Synonyms |
2310046K01Rik |
| MMRRC Submission |
040718-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3727 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
151838431-151851178 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 151847701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 270
(P270S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073228]
[ENSMUST00000109858]
[ENSMUST00000109859]
[ENSMUST00000109861]
|
| AlphaFold |
Q9D6X5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073228
AA Change: P270S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000072961
Gene: ENSMUSG00000027463
AA Change: P270S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
transmembrane domain
|
39 |
61 |
N/A |
INTRINSIC |
|
transmembrane domain
|
74 |
96 |
N/A |
INTRINSIC |
|
transmembrane domain
|
106 |
128 |
N/A |
INTRINSIC |
|
transmembrane domain
|
141 |
163 |
N/A |
INTRINSIC |
|
transmembrane domain
|
210 |
232 |
N/A |
INTRINSIC |
|
Pfam:DUF1011
|
285 |
386 |
7.6e-47 |
PFAM |
|
transmembrane domain
|
390 |
412 |
N/A |
INTRINSIC |
|
transmembrane domain
|
419 |
441 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109858
|
| SMART Domains |
Protein: ENSMUSP00000105484
Gene: ENSMUSG00000027463
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
transmembrane domain
|
39 |
61 |
N/A |
INTRINSIC |
|
transmembrane domain
|
74 |
96 |
N/A |
INTRINSIC |
|
transmembrane domain
|
106 |
128 |
N/A |
INTRINSIC |
|
transmembrane domain
|
135 |
157 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109859
|
| SMART Domains |
Protein: ENSMUSP00000105485
Gene: ENSMUSG00000027463
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
transmembrane domain
|
39 |
61 |
N/A |
INTRINSIC |
|
transmembrane domain
|
74 |
96 |
N/A |
INTRINSIC |
|
transmembrane domain
|
106 |
128 |
N/A |
INTRINSIC |
|
transmembrane domain
|
135 |
157 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109861
AA Change: P270S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000105487
Gene: ENSMUSG00000027463
AA Change: P270S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
transmembrane domain
|
39 |
61 |
N/A |
INTRINSIC |
|
transmembrane domain
|
74 |
96 |
N/A |
INTRINSIC |
|
transmembrane domain
|
106 |
128 |
N/A |
INTRINSIC |
|
transmembrane domain
|
141 |
163 |
N/A |
INTRINSIC |
|
transmembrane domain
|
210 |
232 |
N/A |
INTRINSIC |
|
Pfam:DUF1011
|
288 |
386 |
1.1e-42 |
PFAM |
|
transmembrane domain
|
390 |
412 |
N/A |
INTRINSIC |
|
transmembrane domain
|
419 |
441 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a riboflavin transporter protein that is strongly expressed in the intestine and likely plays a role in intestinal absorption of riboflavin. The protein is predicted to have eleven transmembrane domains and a cell surface localization signal in the C-terminus. Mutations at this locus have been associated with Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal placental riboflavin transport and sudden neonatal death associated with hyperlipidemia and hypoglycemia due to riboflavin deficiency. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago2 |
C |
T |
15: 72,985,706 (GRCm39) |
V630M |
probably damaging |
Het |
| Alk |
T |
C |
17: 72,208,395 (GRCm39) |
|
probably benign |
Het |
| Atp6v0a1 |
T |
A |
11: 100,921,246 (GRCm39) |
S243T |
probably benign |
Het |
| BC035044 |
C |
A |
6: 128,867,822 (GRCm39) |
G37* |
probably null |
Het |
| C3 |
G |
T |
17: 57,514,379 (GRCm39) |
N1435K |
possibly damaging |
Het |
| Caly |
T |
C |
7: 139,650,417 (GRCm39) |
E175G |
probably damaging |
Het |
| Ccng2 |
T |
C |
5: 93,422,810 (GRCm39) |
F330S |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,822,075 (GRCm39) |
A1157T |
probably benign |
Het |
| Cyp2c38 |
A |
G |
19: 39,380,739 (GRCm39) |
|
probably benign |
Het |
| Cypt1 |
T |
A |
X: 16,389,674 (GRCm39) |
L128* |
probably null |
Het |
| Dmgdh |
A |
G |
13: 93,828,575 (GRCm39) |
N239D |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 30,958,622 (GRCm39) |
Q2155* |
probably null |
Het |
| Dpp3 |
A |
G |
19: 4,973,213 (GRCm39) |
I127T |
probably benign |
Het |
| Eps15 |
G |
T |
4: 109,227,882 (GRCm39) |
|
probably benign |
Het |
| Exosc10 |
A |
G |
4: 148,649,734 (GRCm39) |
D388G |
probably damaging |
Het |
| Flt3 |
C |
A |
5: 147,291,733 (GRCm39) |
R572S |
probably damaging |
Het |
| Gm44501 |
T |
C |
17: 40,887,506 (GRCm39) |
F8S |
unknown |
Het |
| Hormad2 |
C |
A |
11: 4,358,598 (GRCm39) |
G270C |
probably benign |
Het |
| Ifrd2 |
C |
T |
9: 107,468,881 (GRCm39) |
R40* |
probably null |
Het |
| Ina |
G |
A |
19: 47,004,158 (GRCm39) |
R322H |
possibly damaging |
Het |
| Kif13b |
A |
G |
14: 65,003,197 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,340,773 (GRCm39) |
N1034S |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,353,104 (GRCm39) |
E1770V |
probably damaging |
Het |
| Mpi |
T |
C |
9: 57,452,132 (GRCm39) |
I381M |
possibly damaging |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Nt5c |
C |
T |
11: 115,381,474 (GRCm39) |
W185* |
probably null |
Het |
| Or2j3 |
A |
T |
17: 38,616,310 (GRCm39) |
I14N |
possibly damaging |
Het |
| Or2y1e |
G |
A |
11: 49,218,622 (GRCm39) |
R128H |
probably benign |
Het |
| Pcdhga9 |
G |
A |
18: 37,871,995 (GRCm39) |
R608H |
probably benign |
Het |
| Pdzrn3 |
T |
A |
6: 101,133,906 (GRCm39) |
D441V |
probably damaging |
Het |
| Rab42 |
A |
G |
4: 132,029,964 (GRCm39) |
M86T |
probably benign |
Het |
| Stpg2 |
T |
C |
3: 139,004,257 (GRCm39) |
F278S |
probably damaging |
Het |
| Styxl2 |
G |
A |
1: 165,927,075 (GRCm39) |
R846C |
probably damaging |
Het |
| Tmem240 |
T |
C |
4: 155,824,235 (GRCm39) |
|
probably benign |
Het |
| Vmn2r22 |
A |
G |
6: 123,627,584 (GRCm39) |
L4P |
possibly damaging |
Het |
| Vmn2r95 |
C |
T |
17: 18,661,744 (GRCm39) |
Q497* |
probably null |
Het |
| Wnk1 |
T |
C |
6: 119,969,414 (GRCm39) |
H347R |
probably damaging |
Het |
| Zmym2 |
A |
T |
14: 57,156,806 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Slc52a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01391:Slc52a3
|
APN |
2 |
151,849,522 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01511:Slc52a3
|
APN |
2 |
151,846,564 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02058:Slc52a3
|
APN |
2 |
151,847,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02271:Slc52a3
|
APN |
2 |
151,847,448 (GRCm39) |
splice site |
probably benign |
|
|
R0238:Slc52a3
|
UTSW |
2 |
151,850,076 (GRCm39) |
makesense |
probably null |
|
|
R0238:Slc52a3
|
UTSW |
2 |
151,850,076 (GRCm39) |
makesense |
probably null |
|
|
R0239:Slc52a3
|
UTSW |
2 |
151,850,076 (GRCm39) |
makesense |
probably null |
|
|
R0239:Slc52a3
|
UTSW |
2 |
151,850,076 (GRCm39) |
makesense |
probably null |
|
|
R0352:Slc52a3
|
UTSW |
2 |
151,849,433 (GRCm39) |
nonsense |
probably null |
|
|
R4272:Slc52a3
|
UTSW |
2 |
151,847,660 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4273:Slc52a3
|
UTSW |
2 |
151,847,660 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6267:Slc52a3
|
UTSW |
2 |
151,849,529 (GRCm39) |
splice site |
probably null |
|
|
R7265:Slc52a3
|
UTSW |
2 |
151,846,336 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7409:Slc52a3
|
UTSW |
2 |
151,846,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7634:Slc52a3
|
UTSW |
2 |
151,846,534 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8697:Slc52a3
|
UTSW |
2 |
151,846,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8822:Slc52a3
|
UTSW |
2 |
151,846,513 (GRCm39) |
missense |
probably benign |
|
|
R9243:Slc52a3
|
UTSW |
2 |
151,846,512 (GRCm39) |
missense |
probably benign |
|
|
R9443:Slc52a3
|
UTSW |
2 |
151,846,299 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAAACCTTAGCCCTTCCCTG -3'
(R):5'- TGATCCCCACTAGAGTTCCC -3'
Sequencing Primer
(F):5'- ACCAGGAGAGCCGCTAC -3'
(R):5'- ACTAGAGTTCCCTGGGTCG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation