Incidental Mutation 'R3730:Slc16a10'
| ID |
270936 |
| 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 # |
R3730 (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: 99.0%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 90.5%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
A |
G |
1: 11,615,450 (GRCm39) |
N141S |
probably damaging |
Het |
| Acbd6 |
T |
A |
1: 155,434,471 (GRCm39) |
S30T |
probably benign |
Het |
| Acot12 |
T |
A |
13: 91,908,145 (GRCm39) |
F109Y |
possibly damaging |
Het |
| Adamts19 |
G |
A |
18: 59,033,982 (GRCm39) |
R319Q |
probably damaging |
Het |
| Akap1 |
T |
C |
11: 88,736,008 (GRCm39) |
E218G |
possibly damaging |
Het |
| Atg4b |
T |
A |
1: 93,695,997 (GRCm39) |
D45E |
probably damaging |
Het |
| Atoh1 |
A |
G |
6: 64,706,557 (GRCm39) |
E84G |
probably benign |
Het |
| Cemip2 |
A |
G |
19: 21,803,481 (GRCm39) |
Y838C |
probably damaging |
Het |
| Cfap251 |
A |
T |
5: 123,464,631 (GRCm39) |
I1280L |
possibly damaging |
Het |
| Cfap54 |
A |
T |
10: 92,847,335 (GRCm39) |
Y951* |
probably null |
Het |
| Col4a4 |
T |
A |
1: 82,433,472 (GRCm39) |
|
probably null |
Het |
| Crlf1 |
A |
G |
8: 70,952,092 (GRCm39) |
T95A |
probably benign |
Het |
| Cyp3a25 |
G |
A |
5: 145,939,891 (GRCm39) |
P39S |
probably damaging |
Het |
| Dhx9 |
C |
A |
1: 153,353,866 (GRCm39) |
A186S |
probably benign |
Het |
| Dusp16 |
A |
G |
6: 134,695,824 (GRCm39) |
S336P |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,784,882 (GRCm39) |
V314A |
possibly damaging |
Het |
| Focad |
T |
C |
4: 88,327,162 (GRCm39) |
I157T |
possibly damaging |
Het |
| Frem3 |
A |
T |
8: 81,342,545 (GRCm39) |
T1613S |
probably damaging |
Het |
| Fshr |
C |
T |
17: 89,309,143 (GRCm39) |
V222I |
probably benign |
Het |
| Galnt13 |
A |
G |
2: 54,823,519 (GRCm39) |
N365S |
possibly damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Ice1 |
A |
T |
13: 70,751,359 (GRCm39) |
S1576T |
probably damaging |
Het |
| Ighv1-19 |
C |
A |
12: 114,672,497 (GRCm39) |
C40F |
probably damaging |
Het |
| Itga8 |
T |
C |
2: 12,198,321 (GRCm39) |
T555A |
possibly damaging |
Het |
| Kctd5 |
T |
C |
17: 24,278,212 (GRCm39) |
D146G |
probably benign |
Het |
| Ktn1 |
A |
G |
14: 47,938,606 (GRCm39) |
E766G |
probably damaging |
Het |
| Ldlr |
C |
G |
9: 21,643,097 (GRCm39) |
A41G |
probably benign |
Het |
| Lrp2 |
G |
A |
2: 69,294,923 (GRCm39) |
P3465L |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,365,251 (GRCm39) |
|
probably null |
Het |
| Mapk11 |
G |
A |
15: 89,029,318 (GRCm39) |
A248V |
probably benign |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Npr2 |
T |
C |
4: 43,640,999 (GRCm39) |
S402P |
possibly damaging |
Het |
| Olfm2 |
T |
C |
9: 20,584,063 (GRCm39) |
N76D |
probably damaging |
Het |
| Or7g33 |
T |
A |
9: 19,448,447 (GRCm39) |
I260F |
probably benign |
Het |
| Or8k3 |
A |
G |
2: 86,059,195 (GRCm39) |
I40T |
probably benign |
Het |
| Pias4 |
A |
T |
10: 80,999,888 (GRCm39) |
F55Y |
probably damaging |
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 |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc35e4 |
A |
G |
11: 3,862,577 (GRCm39) |
V204A |
possibly damaging |
Het |
| Syt4 |
T |
C |
18: 31,577,189 (GRCm39) |
H55R |
probably damaging |
Het |
| Trim46 |
T |
A |
3: 89,142,256 (GRCm39) |
T721S |
probably benign |
Het |
| Usf3 |
G |
T |
16: 44,038,938 (GRCm39) |
L1139F |
probably benign |
Het |
| Xrn2 |
A |
T |
2: 146,866,729 (GRCm39) |
M100L |
probably benign |
Het |
| Zbtb33 |
C |
A |
X: 37,281,822 (GRCm39) |
N243K |
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 |
|
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'- AGTCTGCTACAGAAGGAGCACC -3'
(R):5'- CGGACTTATCACAGGAGCTG -3'
Sequencing Primer
(F):5'- ACCCAGAGAGGACCTTCAGG -3'
(R):5'- TCACAGGAGCTGCTTTTAAATG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation