Incidental Mutation 'R3731:Slc16a10'
| ID |
270991 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R3731 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
39909528-40018254 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 39932620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Aspartic acid
at position 314
(H314D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092566]
|
| AlphaFold |
Q3U9N9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092566
AA Change: H314D
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000090227
Gene: ENSMUSG00000019838
AA Change: H314D
| 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 |
unknown
Transcript: ENSMUST00000213827
AA Change: H27D
|
| Meta Mutation Damage Score |
0.6759 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
T |
A |
16: 14,427,485 (GRCm39) |
|
probably null |
Het |
| Abcc5 |
A |
T |
16: 20,217,684 (GRCm39) |
Y5* |
probably null |
Het |
| Acbd6 |
T |
A |
1: 155,434,471 (GRCm39) |
S30T |
probably benign |
Het |
| Adar |
T |
C |
3: 89,653,962 (GRCm39) |
I325T |
probably damaging |
Het |
| Akap13 |
T |
C |
7: 75,261,125 (GRCm39) |
S92P |
probably benign |
Het |
| Atp1a4 |
A |
T |
1: 172,061,528 (GRCm39) |
V771E |
probably damaging |
Het |
| Cfh |
A |
G |
1: 140,047,708 (GRCm39) |
S492P |
possibly damaging |
Het |
| Crlf1 |
A |
G |
8: 70,952,092 (GRCm39) |
T95A |
probably benign |
Het |
| Dennd2d |
T |
G |
3: 106,407,271 (GRCm39) |
F441V |
probably damaging |
Het |
| Dhx33 |
T |
C |
11: 70,879,978 (GRCm39) |
D344G |
probably benign |
Het |
| Disp3 |
A |
G |
4: 148,337,284 (GRCm39) |
S844P |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,599,722 (GRCm39) |
K286E |
probably damaging |
Het |
| Fam228a |
T |
C |
12: 4,768,671 (GRCm39) |
E203G |
probably benign |
Het |
| Fbxo38 |
GTGCTGCTGCTGCTGCTGCTGC |
GTGCTGCTGCTGCTGCTGC |
18: 62,648,399 (GRCm39) |
|
probably benign |
Het |
| Frmpd4 |
G |
A |
X: 166,269,803 (GRCm39) |
T493M |
probably damaging |
Het |
| Galnt13 |
A |
G |
2: 54,823,519 (GRCm39) |
N365S |
possibly damaging |
Het |
| Hrob |
A |
G |
11: 102,148,732 (GRCm39) |
E381G |
possibly damaging |
Het |
| Ighv1-19 |
C |
A |
12: 114,672,497 (GRCm39) |
C40F |
probably damaging |
Het |
| Ints4 |
A |
G |
7: 97,155,308 (GRCm39) |
Q320R |
probably benign |
Het |
| Kctd5 |
T |
C |
17: 24,278,212 (GRCm39) |
D146G |
probably benign |
Het |
| Loxl3 |
T |
C |
6: 83,027,652 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
G |
A |
2: 69,294,923 (GRCm39) |
P3465L |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,365,251 (GRCm39) |
|
probably null |
Het |
| Manba |
G |
A |
3: 135,260,611 (GRCm39) |
V599I |
probably benign |
Het |
| Mbd6 |
A |
G |
10: 127,121,637 (GRCm39) |
|
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nepn |
A |
T |
10: 52,280,110 (GRCm39) |
N401Y |
probably damaging |
Het |
| Nol10 |
A |
T |
12: 17,474,674 (GRCm39) |
K622I |
probably benign |
Het |
| Npas3 |
T |
C |
12: 53,401,175 (GRCm39) |
I40T |
probably benign |
Het |
| Or1e29 |
T |
C |
11: 73,667,565 (GRCm39) |
E196G |
probably benign |
Het |
| Or1j19 |
A |
T |
2: 36,676,578 (GRCm39) |
I14F |
possibly damaging |
Het |
| Or2d4 |
T |
A |
7: 106,543,684 (GRCm39) |
N175Y |
probably damaging |
Het |
| Or4n4b |
T |
A |
14: 50,535,962 (GRCm39) |
D268V |
probably damaging |
Het |
| Or5p73 |
T |
C |
7: 108,064,633 (GRCm39) |
I34T |
possibly damaging |
Het |
| Or8g33 |
T |
A |
9: 39,338,365 (GRCm39) |
M1L |
probably benign |
Het |
| Phtf1 |
A |
G |
3: 103,893,095 (GRCm39) |
M120V |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,471,193 (GRCm39) |
Y988C |
probably benign |
Het |
| Rgs12 |
G |
A |
5: 35,189,595 (GRCm39) |
E658K |
probably damaging |
Het |
| Ripor3 |
C |
G |
2: 167,834,739 (GRCm39) |
E251Q |
probably damaging |
Het |
| Sec24b |
T |
C |
3: 129,827,482 (GRCm39) |
K203R |
possibly damaging |
Het |
| Serpina1d |
T |
A |
12: 103,734,164 (GRCm39) |
N47Y |
possibly damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Sirpb1c |
T |
C |
3: 15,887,287 (GRCm39) |
K184R |
probably damaging |
Het |
| Upp2 |
T |
C |
2: 58,645,379 (GRCm39) |
S41P |
probably benign |
Het |
| Vmn1r10 |
A |
G |
6: 57,090,719 (GRCm39) |
T104A |
probably damaging |
Het |
| Wdhd1 |
A |
C |
14: 47,485,349 (GRCm39) |
S838R |
possibly damaging |
Het |
| Zer1 |
A |
G |
2: 30,000,923 (GRCm39) |
V166A |
probably benign |
Het |
| Zfp217 |
T |
C |
2: 169,956,308 (GRCm39) |
N897D |
probably benign |
Het |
| Zfp960 |
T |
A |
17: 17,308,633 (GRCm39) |
L449H |
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 |
|
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 |
|
|
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'- AGTCTGCTACAGAAGGAGCACC -3'
(R):5'- ACGGACTTATCACAGGAGCTG -3'
Sequencing Primer
(F):5'- ACCCAGAGAGGACCTTCAGG -3'
(R):5'- TCACAGGAGCTGCTTTTAAATG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation