Incidental Mutation 'R6555:Slc16a10'
| ID |
522092 |
| 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 |
044680-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R6555 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
39909528-40018254 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39956774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 122
(I122V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150416
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092566]
[ENSMUST00000213488]
|
| AlphaFold |
Q3U9N9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092566
AA Change: I122V
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000090227
Gene: ENSMUSG00000019838
AA Change: I122V
| 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: I122V
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213827
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
G |
5: 8,752,468 (GRCm39) |
I480V |
probably damaging |
Het |
| Akap1 |
A |
T |
11: 88,735,708 (GRCm39) |
I351N |
probably damaging |
Het |
| C1qtnf3 |
A |
G |
15: 10,975,742 (GRCm39) |
M256V |
probably damaging |
Het |
| Carm1 |
T |
A |
9: 21,498,258 (GRCm39) |
C421S |
probably damaging |
Het |
| Celsr2 |
T |
C |
3: 108,302,235 (GRCm39) |
D2631G |
probably damaging |
Het |
| Cfap206 |
A |
G |
4: 34,719,049 (GRCm39) |
V319A |
probably damaging |
Het |
| Cntnap2 |
T |
A |
6: 46,736,694 (GRCm39) |
W707R |
probably damaging |
Het |
| Ctss |
T |
A |
3: 95,450,340 (GRCm39) |
L97* |
probably null |
Het |
| Eif2ak4 |
A |
T |
2: 118,258,350 (GRCm39) |
N455Y |
probably damaging |
Het |
| Ercc6 |
G |
A |
14: 32,239,064 (GRCm39) |
E51K |
probably benign |
Het |
| Gm10318 |
G |
A |
10: 77,688,855 (GRCm39) |
|
probably benign |
Het |
| Gp6 |
C |
T |
7: 4,387,929 (GRCm39) |
R180Q |
probably damaging |
Het |
| Gtsf1 |
T |
C |
15: 103,333,902 (GRCm39) |
I25V |
probably damaging |
Het |
| Igkv1-99 |
A |
G |
6: 68,519,300 (GRCm39) |
R85G |
probably damaging |
Het |
| Il36a |
G |
A |
2: 24,114,611 (GRCm39) |
|
probably null |
Het |
| Iqsec3 |
T |
C |
6: 121,361,178 (GRCm39) |
H935R |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,380,965 (GRCm39) |
V94A |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,339,647 (GRCm39) |
K1088R |
probably benign |
Het |
| Lsm3 |
GATATATA |
GATATATATA |
6: 91,496,617 (GRCm39) |
|
probably null |
Het |
| Lyst |
A |
G |
13: 13,823,510 (GRCm39) |
N1494S |
probably benign |
Het |
| Mta3 |
C |
T |
17: 84,015,875 (GRCm39) |
R26W |
probably damaging |
Het |
| Nup88 |
T |
C |
11: 70,835,006 (GRCm39) |
R660G |
possibly damaging |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Or4q3 |
G |
A |
14: 50,583,303 (GRCm39) |
Q168* |
probably null |
Het |
| Or5d16 |
T |
A |
2: 87,773,632 (GRCm39) |
E113D |
probably damaging |
Het |
| Or8b51 |
C |
A |
9: 38,569,585 (GRCm39) |
M34I |
probably benign |
Het |
| Pcdhga10 |
A |
G |
18: 37,882,488 (GRCm39) |
T750A |
probably damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,937,473 (GRCm39) |
|
probably null |
Het |
| Ppip5k1 |
T |
C |
2: 121,168,093 (GRCm39) |
E720G |
probably damaging |
Het |
| Pramel27 |
A |
G |
4: 143,578,140 (GRCm39) |
I133M |
possibly damaging |
Het |
| Ptprn2 |
T |
C |
12: 117,190,820 (GRCm39) |
Y786H |
probably damaging |
Het |
| Safb2 |
A |
G |
17: 56,874,600 (GRCm39) |
V614A |
probably damaging |
Het |
| Safb2 |
A |
G |
17: 56,889,982 (GRCm39) |
|
probably null |
Het |
| Selp |
C |
T |
1: 163,969,171 (GRCm39) |
|
probably null |
Het |
| Slc22a22 |
G |
A |
15: 57,122,527 (GRCm39) |
T131M |
probably benign |
Het |
| Trmt2a |
A |
T |
16: 18,071,067 (GRCm39) |
I574F |
probably benign |
Het |
| Tsen54 |
C |
T |
11: 115,711,519 (GRCm39) |
T156I |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,846,993 (GRCm39) |
N2592S |
probably damaging |
Het |
| Wdr64 |
G |
A |
1: 175,547,856 (GRCm39) |
R131H |
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 |
|
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'- CTCTGGCATACTGCTGATCTATG -3'
(R):5'- AAGTGTTGAGGCTTGCGAC -3'
Sequencing Primer
(F):5'- GGGATTCTCTTTGTAAACAGCGAAG -3'
(R):5'- CGACTGATTTGCTGTGGCCTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation