Incidental Mutation 'R3729:Slc16a10'
ID |
270884 |
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 |
040719-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
R3729 (G1)
|
Quality Score |
225 |
Status
|
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: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
100% (48/48) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
A |
G |
5: 114,345,409 (GRCm39) |
D954G |
probably damaging |
Het |
Acvr1 |
T |
C |
2: 58,352,925 (GRCm39) |
K345R |
probably null |
Het |
Aldoart2 |
A |
G |
12: 55,613,104 (GRCm39) |
Y343C |
probably damaging |
Het |
Arpp21 |
T |
A |
9: 111,895,047 (GRCm39) |
Y739F |
possibly damaging |
Het |
Cachd1 |
C |
A |
4: 100,832,077 (GRCm39) |
Y746* |
probably null |
Het |
Card14 |
T |
C |
11: 119,224,758 (GRCm39) |
V595A |
probably damaging |
Het |
Dhx33 |
T |
C |
11: 70,879,978 (GRCm39) |
D344G |
probably benign |
Het |
Dnah12 |
T |
A |
14: 26,427,220 (GRCm39) |
D171E |
probably benign |
Het |
Fat3 |
A |
G |
9: 16,158,337 (GRCm39) |
|
probably benign |
Het |
Fmnl3 |
A |
G |
15: 99,219,745 (GRCm39) |
F668L |
probably damaging |
Het |
Frmpd4 |
G |
A |
X: 166,269,803 (GRCm39) |
T493M |
probably damaging |
Het |
Gcn1 |
A |
T |
5: 115,721,453 (GRCm39) |
|
probably benign |
Het |
Hspbp1 |
G |
T |
7: 4,680,808 (GRCm39) |
Q223K |
probably damaging |
Het |
Ighv1-19 |
C |
A |
12: 114,672,497 (GRCm39) |
C40F |
probably damaging |
Het |
Igkv4-90 |
A |
G |
6: 68,784,665 (GRCm39) |
F10L |
probably benign |
Het |
Kctd5 |
T |
C |
17: 24,278,212 (GRCm39) |
D146G |
probably benign |
Het |
Kif4-ps |
A |
G |
12: 101,112,369 (GRCm39) |
E166G |
probably damaging |
Het |
Lemd3 |
T |
C |
10: 120,763,920 (GRCm39) |
D780G |
probably damaging |
Het |
Manba |
G |
A |
3: 135,260,611 (GRCm39) |
V599I |
probably benign |
Het |
Map2 |
A |
G |
1: 66,451,605 (GRCm39) |
E247G |
possibly damaging |
Het |
Mfsd1 |
T |
C |
3: 67,490,298 (GRCm39) |
F50L |
probably benign |
Het |
Mier2 |
T |
C |
10: 79,380,876 (GRCm39) |
|
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Nol10 |
A |
T |
12: 17,474,674 (GRCm39) |
K622I |
probably benign |
Het |
Or5p62 |
A |
T |
7: 107,771,516 (GRCm39) |
I145N |
probably benign |
Het |
Or8d2b |
T |
C |
9: 38,788,547 (GRCm39) |
F25S |
probably damaging |
Het |
Phtf1 |
A |
G |
3: 103,893,095 (GRCm39) |
M120V |
probably benign |
Het |
Prrx1 |
A |
G |
1: 163,089,446 (GRCm39) |
L127P |
probably damaging |
Het |
Rbsn |
T |
C |
6: 92,168,316 (GRCm39) |
M373V |
possibly damaging |
Het |
Sec24b |
T |
C |
3: 129,827,482 (GRCm39) |
K203R |
possibly damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Slc4a7 |
A |
T |
14: 14,729,276 (GRCm38) |
E47D |
probably damaging |
Het |
Taf12 |
C |
A |
4: 132,010,265 (GRCm39) |
P78Q |
probably damaging |
Het |
Tnn |
A |
G |
1: 159,973,810 (GRCm39) |
C186R |
probably damaging |
Het |
Trim46 |
T |
A |
3: 89,142,256 (GRCm39) |
T721S |
probably benign |
Het |
Trip4 |
T |
C |
9: 65,788,224 (GRCm39) |
N74D |
possibly damaging |
Het |
Tssk5 |
C |
T |
15: 76,257,096 (GRCm39) |
R262H |
probably benign |
Het |
Vegfa |
T |
C |
17: 46,335,446 (GRCm39) |
I105V |
possibly damaging |
Het |
Vmn2r14 |
T |
C |
5: 109,364,095 (GRCm39) |
Y607C |
probably damaging |
Het |
Wdr83 |
G |
T |
8: 85,806,968 (GRCm39) |
H66Q |
probably damaging |
Het |
Zfp280b |
A |
G |
10: 75,874,936 (GRCm39) |
T272A |
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 |
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 |
|
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'- GTCTGCTACAGAAGGAGCAC -3'
(R):5'- GGACTTATCACAGGAGCTGC -3'
Sequencing Primer
(F):5'- ACCCAGAGAGGACCTTCAGG -3'
(R):5'- TCACAGGAGCTGCTTTTAAATG -3'
|
Posted On |
2015-03-18 |