Incidental Mutation 'R3922:Slc19a3'
| ID |
306963 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc19a3
|
| Ensembl Gene |
ENSMUSG00000038496 |
| Gene Name |
solute carrier family 19, member 3 |
| Synonyms |
ThTr2, A230084E24Rik |
| MMRRC Submission |
040819-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R3922 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
82990244-83016169 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83000678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 113
(F113Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126646
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045560]
[ENSMUST00000164473]
|
| AlphaFold |
Q99PL8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045560
AA Change: F113Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000041683
Gene: ENSMUSG00000038496
AA Change: F113Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Folate_carrier
|
11 |
435 |
1.4e-178 |
PFAM |
|
Pfam:MFS_1
|
16 |
416 |
1.6e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142805
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164473
AA Change: F113Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126646
Gene: ENSMUSG00000038496
AA Change: F113Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Folate_carrier
|
11 |
435 |
1.3e-178 |
PFAM |
|
Pfam:MFS_1
|
16 |
416 |
1.9e-17 |
PFAM |
|
| Meta Mutation Damage Score |
0.4327 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild mental retardation, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature death within a year of age, impaired thiamin uptake, lethargy, cachexia, injured liver parenchyma, hepatic necrosis, liver and kidney inflammmation, and nephrosclerosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| 4921504E06Rik |
T |
A |
2: 19,485,371 (GRCm39) |
E432V |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,983,692 (GRCm39) |
D1659N |
probably benign |
Het |
| Arfgap2 |
C |
T |
2: 91,105,150 (GRCm39) |
R405W |
probably damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,130,452 (GRCm39) |
L462P |
possibly damaging |
Het |
| Arid1b |
T |
C |
17: 5,393,316 (GRCm39) |
V2282A |
probably damaging |
Het |
| Becn2 |
T |
C |
1: 175,748,852 (GRCm39) |
V306A |
probably benign |
Het |
| Cdkl1 |
G |
T |
12: 69,803,373 (GRCm39) |
R168S |
probably damaging |
Het |
| Cep70 |
T |
A |
9: 99,157,632 (GRCm39) |
*117R |
probably null |
Het |
| Cnnm1 |
A |
G |
19: 43,428,884 (GRCm39) |
M1V |
probably null |
Het |
| Cntrl |
A |
G |
2: 35,019,751 (GRCm39) |
E526G |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Ddx59 |
T |
A |
1: 136,344,482 (GRCm39) |
V51D |
probably benign |
Het |
| Dtd2 |
G |
C |
12: 52,051,734 (GRCm39) |
|
probably null |
Het |
| Eea1 |
T |
A |
10: 95,872,495 (GRCm39) |
N1068K |
probably benign |
Het |
| Egfr |
T |
A |
11: 16,831,495 (GRCm39) |
C555S |
probably damaging |
Het |
| Esd |
A |
T |
14: 74,980,667 (GRCm39) |
Q130H |
probably benign |
Het |
| Gpr89 |
A |
T |
3: 96,798,215 (GRCm39) |
I147N |
probably damaging |
Het |
| H2-M10.1 |
T |
A |
17: 36,636,577 (GRCm39) |
I76L |
probably benign |
Het |
| Lgi4 |
A |
T |
7: 30,766,873 (GRCm39) |
D300V |
probably benign |
Het |
| Lrp1b |
C |
A |
2: 40,567,593 (GRCm39) |
V276L |
unknown |
Het |
| Lrp2 |
T |
C |
2: 69,336,720 (GRCm39) |
K1351E |
probably benign |
Het |
| Mroh8 |
T |
C |
2: 157,064,731 (GRCm39) |
I782V |
probably benign |
Het |
| Msrb1 |
T |
C |
17: 24,959,057 (GRCm39) |
S70P |
probably damaging |
Het |
| Nek10 |
T |
C |
14: 14,861,585 (GRCm38) |
M547T |
possibly damaging |
Het |
| Or51ah3 |
T |
C |
7: 103,209,912 (GRCm39) |
V76A |
probably benign |
Het |
| Or6c2b |
C |
A |
10: 128,947,482 (GRCm39) |
V271F |
possibly damaging |
Het |
| Or9i2 |
T |
C |
19: 13,816,130 (GRCm39) |
T136A |
probably damaging |
Het |
| P4htm |
T |
C |
9: 108,460,094 (GRCm39) |
N227D |
probably benign |
Het |
| Plekhm2 |
T |
C |
4: 141,356,843 (GRCm39) |
T787A |
probably benign |
Het |
| Pramel5 |
A |
G |
4: 143,999,622 (GRCm39) |
L155P |
probably damaging |
Het |
| Sbno1 |
T |
C |
5: 124,519,993 (GRCm39) |
Y1122C |
probably damaging |
Het |
| Scn9a |
T |
A |
2: 66,357,217 (GRCm39) |
D1028V |
possibly damaging |
Het |
| Sft2d1 |
G |
T |
17: 8,537,714 (GRCm39) |
L34F |
possibly damaging |
Het |
| Slc27a3 |
G |
T |
3: 90,294,392 (GRCm39) |
H460N |
possibly damaging |
Het |
| Slc35g2 |
A |
T |
9: 100,434,780 (GRCm39) |
I297N |
probably benign |
Het |
| Ssh1 |
T |
G |
5: 114,080,769 (GRCm39) |
Q865P |
possibly damaging |
Het |
| Trp63 |
A |
G |
16: 25,707,759 (GRCm39) |
D583G |
probably damaging |
Het |
| Usp28 |
T |
C |
9: 48,942,223 (GRCm39) |
|
probably null |
Het |
| Wdr43 |
A |
G |
17: 71,945,296 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,465,707 (GRCm39) |
Y1955C |
probably damaging |
Het |
| Zfp108 |
G |
A |
7: 23,960,773 (GRCm39) |
G455R |
probably damaging |
Het |
| Zfp353-ps |
A |
T |
8: 42,536,049 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Slc19a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03066:Slc19a3
|
APN |
1 |
82,992,557 (GRCm39) |
missense |
probably damaging |
0.99 |
|
tag
|
UTSW |
1 |
83,003,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0437:Slc19a3
|
UTSW |
1 |
83,000,286 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0526:Slc19a3
|
UTSW |
1 |
83,000,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1160:Slc19a3
|
UTSW |
1 |
83,000,413 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1306:Slc19a3
|
UTSW |
1 |
83,000,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1832:Slc19a3
|
UTSW |
1 |
83,000,468 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1938:Slc19a3
|
UTSW |
1 |
82,997,089 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1961:Slc19a3
|
UTSW |
1 |
83,000,519 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2058:Slc19a3
|
UTSW |
1 |
82,992,512 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2200:Slc19a3
|
UTSW |
1 |
83,000,664 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2245:Slc19a3
|
UTSW |
1 |
82,991,691 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2261:Slc19a3
|
UTSW |
1 |
83,000,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2404:Slc19a3
|
UTSW |
1 |
83,000,756 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3891:Slc19a3
|
UTSW |
1 |
83,000,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3892:Slc19a3
|
UTSW |
1 |
83,000,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3907:Slc19a3
|
UTSW |
1 |
82,992,534 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3912:Slc19a3
|
UTSW |
1 |
83,000,424 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3923:Slc19a3
|
UTSW |
1 |
83,000,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3961:Slc19a3
|
UTSW |
1 |
83,000,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4083:Slc19a3
|
UTSW |
1 |
83,000,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4106:Slc19a3
|
UTSW |
1 |
83,000,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4107:Slc19a3
|
UTSW |
1 |
83,000,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4109:Slc19a3
|
UTSW |
1 |
83,000,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4667:Slc19a3
|
UTSW |
1 |
83,000,520 (GRCm39) |
missense |
probably benign |
|
|
R4768:Slc19a3
|
UTSW |
1 |
83,000,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4769:Slc19a3
|
UTSW |
1 |
82,997,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5001:Slc19a3
|
UTSW |
1 |
83,000,341 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5538:Slc19a3
|
UTSW |
1 |
83,000,282 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5588:Slc19a3
|
UTSW |
1 |
83,000,776 (GRCm39) |
nonsense |
probably null |
|
|
R6143:Slc19a3
|
UTSW |
1 |
83,004,060 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6546:Slc19a3
|
UTSW |
1 |
83,004,081 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6547:Slc19a3
|
UTSW |
1 |
83,000,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7059:Slc19a3
|
UTSW |
1 |
83,000,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7497:Slc19a3
|
UTSW |
1 |
82,991,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7509:Slc19a3
|
UTSW |
1 |
83,003,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7584:Slc19a3
|
UTSW |
1 |
83,000,469 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7810:Slc19a3
|
UTSW |
1 |
82,997,162 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8150:Slc19a3
|
UTSW |
1 |
83,000,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8412:Slc19a3
|
UTSW |
1 |
82,992,533 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8970:Slc19a3
|
UTSW |
1 |
83,000,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9314:Slc19a3
|
UTSW |
1 |
83,000,094 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9671:Slc19a3
|
UTSW |
1 |
83,000,297 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATGGCAGGTTCGTCAGGGATAC -3'
(R):5'- AAATGTGTTGTGCTTCTGACC -3'
Sequencing Primer
(F):5'- ATACTCCGACAGTAGCTG -3'
(R):5'- GACAAATGAGATCCTTCCTGTTTGG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation