Incidental Mutation 'R8366:Slc16a10'
| ID |
646180 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc16a10
|
| Ensembl Gene |
ENSMUSG00000019838 |
| Gene Name |
solute carrier family 16 (monocarboxylic acid transporters), member 10 |
| Synonyms |
2610103N14Rik, PRO0813, Mct10, TAT1 |
| MMRRC Submission |
067737-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R8366 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
39909528-40018254 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39952867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 209
(V209A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092566]
[ENSMUST00000213488]
|
| AlphaFold |
Q3U9N9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092566
AA Change: V209A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000090227
Gene: ENSMUSG00000019838
AA Change: V209A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
66 |
320 |
1.1e-13 |
PFAM |
|
Pfam:MFS_4
|
269 |
464 |
4.3e-11 |
PFAM |
|
Pfam:MFS_1
|
291 |
507 |
4.3e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213488
AA Change: V209A
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213827
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC16A10 is a member of a family of plasma membrane amino acid transporters that mediate the Na(+)-independent transport of aromatic amino acids across the plasma membrane.[supplied by OMIM, Apr 2004]
PHENOTYPE: Mice homozygous for an ENU-induced null allele exhibit altered amino acid homeostasis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
G |
A |
11: 72,067,521 (GRCm39) |
Q590* |
probably null |
Het |
| Adnp2 |
T |
C |
18: 80,173,725 (GRCm39) |
D228G |
probably damaging |
Het |
| Adrb2 |
T |
A |
18: 62,311,775 (GRCm39) |
Y350F |
probably benign |
Het |
| Agbl4 |
T |
C |
4: 111,423,861 (GRCm39) |
S296P |
probably damaging |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Ampd1 |
A |
T |
3: 102,995,810 (GRCm39) |
D240V |
probably damaging |
Het |
| Armh3 |
T |
C |
19: 45,920,793 (GRCm39) |
Y468C |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,419,707 (GRCm39) |
S838G |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,160,799 (GRCm39) |
F2056L |
probably benign |
Het |
| Cyp4x1 |
A |
T |
4: 114,970,063 (GRCm39) |
S381T |
probably benign |
Het |
| Ddx20 |
A |
G |
3: 105,594,695 (GRCm39) |
S17P |
probably benign |
Het |
| Dlgap4 |
C |
A |
2: 156,542,694 (GRCm39) |
Y32* |
probably null |
Het |
| Dmbt1 |
T |
C |
7: 130,668,330 (GRCm39) |
F529L |
unknown |
Het |
| Ei24 |
A |
G |
9: 36,697,800 (GRCm39) |
S117P |
possibly damaging |
Het |
| Esyt1 |
T |
G |
10: 128,352,422 (GRCm39) |
N730H |
possibly damaging |
Het |
| Gcfc2 |
A |
G |
6: 81,900,782 (GRCm39) |
E32G |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,125,699 (GRCm39) |
I2952T |
|
Het |
| Mkrn3 |
A |
T |
7: 62,069,543 (GRCm39) |
S83T |
probably benign |
Het |
| Ncoa2 |
T |
A |
1: 13,250,830 (GRCm39) |
D284V |
probably damaging |
Het |
| Or10w1 |
A |
G |
19: 13,631,903 (GRCm39) |
S37G |
probably damaging |
Het |
| Osmr |
T |
A |
15: 6,850,435 (GRCm39) |
T724S |
possibly damaging |
Het |
| Pex1 |
A |
G |
5: 3,676,007 (GRCm39) |
E825G |
probably benign |
Het |
| Ranbp6 |
A |
G |
19: 29,789,299 (GRCm39) |
L351P |
probably damaging |
Het |
| Rbm20 |
C |
T |
19: 53,838,612 (GRCm39) |
T863I |
possibly damaging |
Het |
| Rcbtb2 |
T |
C |
14: 73,444,632 (GRCm39) |
S506P |
probably benign |
Het |
| Rdh12 |
T |
A |
12: 79,258,288 (GRCm39) |
I105N |
probably damaging |
Het |
| Ror1 |
A |
G |
4: 100,267,195 (GRCm39) |
I299V |
possibly damaging |
Het |
| Rpap3 |
C |
T |
15: 97,579,548 (GRCm39) |
R488K |
probably benign |
Het |
| Rps6kb1 |
A |
C |
11: 86,402,655 (GRCm39) |
V346G |
probably damaging |
Het |
| Setd2 |
T |
C |
9: 110,377,816 (GRCm39) |
S544P |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,865,566 (GRCm39) |
V162E |
probably damaging |
Het |
| Srsf12 |
C |
G |
4: 33,226,070 (GRCm39) |
P111R |
probably damaging |
Het |
| Teddm2 |
G |
T |
1: 153,726,575 (GRCm39) |
H47N |
probably damaging |
Het |
| Tmem74 |
C |
T |
15: 43,730,315 (GRCm39) |
G243R |
probably damaging |
Het |
| Trmt10c |
C |
T |
16: 55,854,426 (GRCm39) |
R403Q |
probably benign |
Het |
| Vps11 |
A |
T |
9: 44,267,052 (GRCm39) |
Y394* |
probably null |
Het |
| Zscan10 |
G |
T |
17: 23,828,952 (GRCm39) |
R498L |
probably damaging |
Het |
|
| Other mutations in Slc16a10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01140:Slc16a10
|
APN |
10 |
39,952,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0030:Slc16a10
|
UTSW |
10 |
39,952,819 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0196:Slc16a10
|
UTSW |
10 |
39,932,611 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0200:Slc16a10
|
UTSW |
10 |
39,916,612 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0418:Slc16a10
|
UTSW |
10 |
39,916,627 (GRCm39) |
nonsense |
probably null |
|
|
R0463:Slc16a10
|
UTSW |
10 |
39,916,612 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0599:Slc16a10
|
UTSW |
10 |
40,017,914 (GRCm39) |
missense |
probably benign |
|
|
R1162:Slc16a10
|
UTSW |
10 |
39,952,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1554:Slc16a10
|
UTSW |
10 |
39,952,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1901:Slc16a10
|
UTSW |
10 |
39,932,602 (GRCm39) |
nonsense |
probably null |
|
|
R3622:Slc16a10
|
UTSW |
10 |
40,017,890 (GRCm39) |
missense |
probably benign |
|
|
R3624:Slc16a10
|
UTSW |
10 |
40,017,890 (GRCm39) |
missense |
probably benign |
|
|
R3717:Slc16a10
|
UTSW |
10 |
39,932,620 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3719:Slc16a10
|
UTSW |
10 |
39,932,620 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3729:Slc16a10
|
UTSW |
10 |
39,932,620 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3730:Slc16a10
|
UTSW |
10 |
39,932,620 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3731:Slc16a10
|
UTSW |
10 |
39,932,620 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3801:Slc16a10
|
UTSW |
10 |
39,932,620 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3803:Slc16a10
|
UTSW |
10 |
39,932,620 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3804:Slc16a10
|
UTSW |
10 |
39,932,620 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4037:Slc16a10
|
UTSW |
10 |
39,932,620 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4038:Slc16a10
|
UTSW |
10 |
39,932,620 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4254:Slc16a10
|
UTSW |
10 |
39,952,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4980:Slc16a10
|
UTSW |
10 |
39,956,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5498:Slc16a10
|
UTSW |
10 |
39,913,323 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5542:Slc16a10
|
UTSW |
10 |
39,952,784 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6541:Slc16a10
|
UTSW |
10 |
39,913,268 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6555:Slc16a10
|
UTSW |
10 |
39,956,774 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6998:Slc16a10
|
UTSW |
10 |
39,932,499 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7171:Slc16a10
|
UTSW |
10 |
39,913,255 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7354:Slc16a10
|
UTSW |
10 |
39,952,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7414:Slc16a10
|
UTSW |
10 |
40,017,992 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7728:Slc16a10
|
UTSW |
10 |
39,916,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7792:Slc16a10
|
UTSW |
10 |
39,913,411 (GRCm39) |
splice site |
probably null |
|
|
Z1177:Slc16a10
|
UTSW |
10 |
39,952,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGGAGAAGAATGAGCTTC -3'
(R):5'- TCTGAGACTTTCTTTTACCAAGCAC -3'
Sequencing Primer
(F):5'- GCTTCTGCTGCCCCCAC -3'
(R):5'- CTTTCTTTTACCAAGCACCATTAAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation