Incidental Mutation 'R4254:Slc16a10'
| ID |
321742 |
| 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 |
041067-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R4254 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
39909528-40018254 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39952997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 166
(Y166H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150416
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092566]
[ENSMUST00000213488]
|
| AlphaFold |
Q3U9N9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092566
AA Change: Y166H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090227
Gene: ENSMUSG00000019838
AA Change: Y166H
| 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 damaging
Transcript: ENSMUST00000213488
AA Change: Y166H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213827
|
| Meta Mutation Damage Score |
0.8376 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (40/41) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg1 |
T |
G |
8: 95,732,530 (GRCm39) |
|
probably null |
Het |
| Adgrg2 |
T |
G |
X: 159,265,404 (GRCm39) |
S551R |
possibly damaging |
Het |
| Anapc2 |
T |
C |
2: 25,163,357 (GRCm39) |
V198A |
probably benign |
Het |
| Asxl3 |
T |
C |
18: 22,657,423 (GRCm39) |
I1811T |
possibly damaging |
Het |
| Atp5mc3 |
A |
C |
2: 73,740,319 (GRCm39) |
|
probably benign |
Het |
| Ccdc27 |
A |
C |
4: 154,123,976 (GRCm39) |
S186A |
unknown |
Het |
| Ccdc28a |
A |
G |
10: 18,100,683 (GRCm39) |
L48P |
probably damaging |
Het |
| Cdh19 |
C |
T |
1: 110,852,760 (GRCm39) |
A392T |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,942,517 (GRCm39) |
D1679G |
probably benign |
Het |
| Copa |
C |
T |
1: 171,929,811 (GRCm39) |
R293C |
probably damaging |
Het |
| Depdc1a |
A |
G |
3: 159,204,124 (GRCm39) |
R58G |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,438,248 (GRCm39) |
S3960T |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,604,595 (GRCm39) |
T1021S |
probably benign |
Het |
| Hrh1 |
T |
A |
6: 114,456,962 (GRCm39) |
M81K |
probably damaging |
Het |
| Ipo11 |
G |
A |
13: 107,029,017 (GRCm39) |
T312I |
probably benign |
Het |
| Itgb2l |
T |
C |
16: 96,231,777 (GRCm39) |
N330D |
probably benign |
Het |
| Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
| Kcnb1 |
A |
G |
2: 166,947,651 (GRCm39) |
I399T |
probably damaging |
Het |
| Muc13 |
G |
A |
16: 33,636,221 (GRCm39) |
M568I |
probably benign |
Het |
| Nlrp1a |
A |
C |
11: 71,013,854 (GRCm39) |
Y465* |
probably null |
Het |
| Nwd2 |
G |
A |
5: 63,963,889 (GRCm39) |
V1158I |
possibly damaging |
Het |
| Or2h1b |
A |
G |
17: 37,462,530 (GRCm39) |
I111T |
possibly damaging |
Het |
| Or5d14 |
C |
T |
2: 87,880,123 (GRCm39) |
V282I |
possibly damaging |
Het |
| Or8b101 |
T |
A |
9: 38,020,546 (GRCm39) |
L183H |
probably damaging |
Het |
| Ptprr |
T |
A |
10: 115,998,348 (GRCm39) |
|
probably null |
Het |
| Rasd2 |
G |
A |
8: 75,948,538 (GRCm39) |
E155K |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Serinc3 |
T |
A |
2: 163,478,888 (GRCm39) |
M80L |
probably benign |
Het |
| Sf1 |
T |
C |
19: 6,421,677 (GRCm39) |
V140A |
probably damaging |
Het |
| Slc15a2 |
A |
T |
16: 36,574,852 (GRCm39) |
V519E |
probably benign |
Het |
| Slc38a1 |
T |
C |
15: 96,483,431 (GRCm39) |
D299G |
probably benign |
Het |
| Smim29 |
A |
T |
17: 27,784,696 (GRCm39) |
|
probably null |
Het |
| Tmbim1 |
C |
A |
1: 74,333,090 (GRCm39) |
V92F |
probably damaging |
Het |
| Vsig4 |
C |
A |
X: 95,334,107 (GRCm39) |
R134L |
probably benign |
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 |
|
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 |
|
|
R8366:Slc16a10
|
UTSW |
10 |
39,952,867 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Slc16a10
|
UTSW |
10 |
39,952,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTCACACTGCTGATTAGATTTC -3'
(R):5'- GGGAATTCCTTTAAAGATTTGCTCC -3'
Sequencing Primer
(F):5'- TTTCCTAACAGCAAAGGGAGC -3'
(R):5'- AAGAGGCTATCTTTGATGCCTC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation