Incidental Mutation 'R1117:Slc19a2'
| ID |
97382 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc19a2
|
| Ensembl Gene |
ENSMUSG00000040918 |
| Gene Name |
solute carrier family 19 (thiamine transporter), member 2 |
| Synonyms |
TRMA, DDA1, THTR1 |
| MMRRC Submission |
039190-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R1117 (G1)
|
| Quality Score |
219 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
164076615-164092954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 164091025 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 278
(I278F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044021]
[ENSMUST00000159230]
[ENSMUST00000169394]
|
| AlphaFold |
Q9EQN9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044021
AA Change: I479F
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000037561
Gene: ENSMUSG00000040918
AA Change: I479F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
24 |
N/A |
INTRINSIC |
|
Pfam:Folate_carrier
|
28 |
459 |
2.7e-180 |
PFAM |
|
Pfam:MFS_1
|
34 |
441 |
2.6e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159230
AA Change: I441F
PolyPhen 2
Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000123870
Gene: ENSMUSG00000040918
AA Change: I441F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
24 |
N/A |
INTRINSIC |
|
Pfam:Folate_carrier
|
28 |
421 |
1.6e-176 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160773
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169394
AA Change: I278F
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131327
Gene: ENSMUSG00000040918
AA Change: I278F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
24 |
N/A |
INTRINSIC |
|
Pfam:Folate_carrier
|
28 |
70 |
3.7e-17 |
PFAM |
|
Pfam:Folate_carrier
|
65 |
258 |
6.7e-85 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygotes for targeted null alleles exhibit a grossly normal phenotype except for reduced testis size and male infertility. On a low-thiamine diet, mutants show premature death and sensorineural deafness, while homozygotes for one targeted allele also display diabetes mellitus and megaloblastosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
G |
A |
10: 83,344,487 (GRCm39) |
T353I |
probably benign |
Het |
| Arpc1b |
T |
C |
5: 145,062,564 (GRCm39) |
V226A |
possibly damaging |
Het |
| Casz1 |
C |
A |
4: 149,019,052 (GRCm39) |
T451K |
probably damaging |
Het |
| Ccr4 |
C |
T |
9: 114,321,085 (GRCm39) |
V327M |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,017,985 (GRCm39) |
E465G |
probably damaging |
Het |
| Cpa1 |
A |
G |
6: 30,645,260 (GRCm39) |
D412G |
probably benign |
Het |
| Crispld1 |
T |
A |
1: 17,819,846 (GRCm39) |
N281K |
probably benign |
Het |
| Cul3 |
T |
C |
1: 80,258,641 (GRCm39) |
Q465R |
probably damaging |
Het |
| Cyp2c68 |
G |
A |
19: 39,700,903 (GRCm39) |
T305M |
probably damaging |
Het |
| Elp4 |
T |
C |
2: 105,672,656 (GRCm39) |
D143G |
probably benign |
Het |
| Etnppl |
A |
G |
3: 130,428,212 (GRCm39) |
I462M |
probably benign |
Het |
| Fmo4 |
A |
G |
1: 162,631,232 (GRCm39) |
V245A |
probably benign |
Het |
| Gm4076 |
A |
G |
13: 85,275,437 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Kcnj15 |
G |
A |
16: 95,096,484 (GRCm39) |
M8I |
probably benign |
Het |
| Klk1b22 |
A |
T |
7: 43,766,283 (GRCm39) |
M255L |
probably benign |
Het |
| Mmrn1 |
T |
A |
6: 60,953,309 (GRCm39) |
I530K |
possibly damaging |
Het |
| Muc21 |
T |
C |
17: 35,930,920 (GRCm39) |
|
probably benign |
Het |
| Nid2 |
A |
C |
14: 19,813,732 (GRCm39) |
|
probably null |
Het |
| Or10g6 |
T |
C |
9: 39,934,058 (GRCm39) |
F123S |
probably damaging |
Het |
| Or10h28 |
C |
T |
17: 33,487,940 (GRCm39) |
R81* |
probably null |
Het |
| Or9e1 |
A |
G |
11: 58,732,641 (GRCm39) |
K234E |
possibly damaging |
Het |
| Peak1 |
G |
A |
9: 56,165,702 (GRCm39) |
T742M |
probably benign |
Het |
| Sel1l3 |
T |
A |
5: 53,329,949 (GRCm39) |
T469S |
probably benign |
Het |
| Sez6 |
A |
G |
11: 77,865,340 (GRCm39) |
Y659C |
probably damaging |
Het |
| Slc36a3 |
T |
C |
11: 55,037,006 (GRCm39) |
I100V |
possibly damaging |
Het |
| Tcerg1 |
A |
G |
18: 42,707,717 (GRCm39) |
D1079G |
probably damaging |
Het |
| Trim43c |
T |
C |
9: 88,727,030 (GRCm39) |
S286P |
probably benign |
Het |
| Umod |
T |
C |
7: 119,076,529 (GRCm39) |
N79S |
possibly damaging |
Het |
| Wdr43 |
A |
G |
17: 71,923,382 (GRCm39) |
T43A |
probably benign |
Het |
|
| Other mutations in Slc19a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01464:Slc19a2
|
APN |
1 |
164,088,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03231:Slc19a2
|
APN |
1 |
164,088,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0324:Slc19a2
|
UTSW |
1 |
164,084,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0709:Slc19a2
|
UTSW |
1 |
164,084,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1165:Slc19a2
|
UTSW |
1 |
164,091,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1463:Slc19a2
|
UTSW |
1 |
164,084,766 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1833:Slc19a2
|
UTSW |
1 |
164,089,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2148:Slc19a2
|
UTSW |
1 |
164,089,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2680:Slc19a2
|
UTSW |
1 |
164,076,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4010:Slc19a2
|
UTSW |
1 |
164,088,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5850:Slc19a2
|
UTSW |
1 |
164,091,025 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6279:Slc19a2
|
UTSW |
1 |
164,084,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6300:Slc19a2
|
UTSW |
1 |
164,084,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6907:Slc19a2
|
UTSW |
1 |
164,090,323 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6917:Slc19a2
|
UTSW |
1 |
164,088,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6982:Slc19a2
|
UTSW |
1 |
164,084,428 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6993:Slc19a2
|
UTSW |
1 |
164,088,391 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7424:Slc19a2
|
UTSW |
1 |
164,088,445 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7575:Slc19a2
|
UTSW |
1 |
164,084,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8193:Slc19a2
|
UTSW |
1 |
164,084,794 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8831:Slc19a2
|
UTSW |
1 |
164,084,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9424:Slc19a2
|
UTSW |
1 |
164,076,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGCAGTAGTGCAGATGCTCCC -3'
(R):5'- AAAGCTTCCGGCTTCTCTTAGCAG -3'
Sequencing Primer
(F):5'- TGCAGATGCTCCCAGAATG -3'
(R):5'- CTCCAAGACTGCAAGGTGTTAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation