Incidental Mutation 'IGL03289:Slc16a6'
| ID |
415822 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc16a6
|
| Ensembl Gene |
ENSMUSG00000041920 |
| Gene Name |
solute carrier family 16 (monocarboxylic acid transporters), member 6 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03289
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
109341681-109364424 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109354325 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 31
(Y31H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125950
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032206]
[ENSMUST00000070152]
[ENSMUST00000070872]
[ENSMUST00000168740]
|
| AlphaFold |
B1AT66 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032206
AA Change: Y15H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032206
Gene: ENSMUSG00000041920
AA Change: Y15H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
transmembrane domain
|
63 |
85 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070152
AA Change: Y99H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065628
Gene: ENSMUSG00000041920
AA Change: Y99H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
115 |
521 |
7.5e-36 |
PFAM |
|
transmembrane domain
|
533 |
555 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070872
AA Change: Y15H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067423
Gene: ENSMUSG00000041920
AA Change: Y15H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
31 |
437 |
2.8e-36 |
PFAM |
|
transmembrane domain
|
449 |
471 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000116880
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129901
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168740
AA Change: Y31H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125950
Gene: ENSMUSG00000041920
AA Change: Y31H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
37 |
59 |
N/A |
INTRINSIC |
|
transmembrane domain
|
79 |
101 |
N/A |
INTRINSIC |
|
transmembrane domain
|
108 |
127 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap10 |
A |
G |
11: 61,768,794 (GRCm39) |
|
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,127,261 (GRCm39) |
Y3703C |
probably damaging |
Het |
| Ankk1 |
A |
G |
9: 49,326,995 (GRCm39) |
V728A |
probably benign |
Het |
| B3galt2 |
T |
C |
1: 143,523,042 (GRCm39) |
Y393H |
probably damaging |
Het |
| Clcn4 |
T |
A |
7: 7,287,257 (GRCm39) |
I664F |
probably damaging |
Het |
| Clec2e |
A |
T |
6: 129,075,418 (GRCm39) |
I41N |
probably damaging |
Het |
| Col2a1 |
A |
T |
15: 97,878,762 (GRCm39) |
N845K |
unknown |
Het |
| Cubn |
T |
G |
2: 13,431,778 (GRCm39) |
I1272L |
probably benign |
Het |
| Dnajc5 |
T |
C |
2: 181,189,260 (GRCm39) |
Y79H |
probably damaging |
Het |
| Eml6 |
G |
T |
11: 29,745,328 (GRCm39) |
A1006E |
possibly damaging |
Het |
| Igsf5 |
A |
T |
16: 96,326,632 (GRCm39) |
D271V |
possibly damaging |
Het |
| Kalrn |
G |
A |
16: 34,205,667 (GRCm39) |
A70V |
possibly damaging |
Het |
| Kcnn2 |
A |
T |
18: 45,810,111 (GRCm39) |
K309N |
probably damaging |
Het |
| Lrch4 |
T |
C |
5: 137,631,839 (GRCm39) |
S22P |
probably damaging |
Het |
| Mcpt2 |
A |
T |
14: 56,281,794 (GRCm39) |
I215F |
probably damaging |
Het |
| Mrc1 |
T |
C |
2: 14,313,634 (GRCm39) |
|
probably null |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Or1l4b |
C |
T |
2: 37,036,590 (GRCm39) |
A122V |
probably damaging |
Het |
| Osbp2 |
A |
G |
11: 3,813,380 (GRCm39) |
V163A |
probably benign |
Het |
| Pla2g6 |
G |
A |
15: 79,201,985 (GRCm39) |
P62L |
probably damaging |
Het |
| Scart1 |
T |
C |
7: 139,808,973 (GRCm39) |
|
probably null |
Het |
| Senp1 |
G |
T |
15: 97,982,926 (GRCm39) |
H20Q |
probably damaging |
Het |
| Thbs2 |
T |
A |
17: 14,910,384 (GRCm39) |
N72Y |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,343,818 (GRCm39) |
S1366T |
possibly damaging |
Het |
| Vmn1r216 |
T |
A |
13: 23,284,182 (GRCm39) |
D288E |
possibly damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,196,788 (GRCm39) |
|
probably benign |
Het |
| Vnn3 |
A |
T |
10: 23,741,735 (GRCm39) |
S347C |
possibly damaging |
Het |
| Yme1l1 |
T |
C |
2: 23,050,280 (GRCm39) |
V37A |
probably benign |
Het |
| Zfp597 |
A |
T |
16: 3,683,786 (GRCm39) |
D323E |
possibly damaging |
Het |
|
| Other mutations in Slc16a6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4280001:Slc16a6
|
UTSW |
11 |
109,349,419 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1420:Slc16a6
|
UTSW |
11 |
109,345,772 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3902:Slc16a6
|
UTSW |
11 |
109,349,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4706:Slc16a6
|
UTSW |
11 |
109,354,193 (GRCm39) |
missense |
probably benign |
0.45 |
|
R4707:Slc16a6
|
UTSW |
11 |
109,354,193 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5940:Slc16a6
|
UTSW |
11 |
109,364,022 (GRCm39) |
unclassified |
probably benign |
|
|
R6646:Slc16a6
|
UTSW |
11 |
109,343,988 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6889:Slc16a6
|
UTSW |
11 |
109,345,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7266:Slc16a6
|
UTSW |
11 |
109,344,107 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8053:Slc16a6
|
UTSW |
11 |
109,349,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8079:Slc16a6
|
UTSW |
11 |
109,364,281 (GRCm39) |
missense |
unknown |
|
|
R8829:Slc16a6
|
UTSW |
11 |
109,345,932 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8832:Slc16a6
|
UTSW |
11 |
109,345,932 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8968:Slc16a6
|
UTSW |
11 |
109,345,776 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9302:Slc16a6
|
UTSW |
11 |
109,350,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9620:Slc16a6
|
UTSW |
11 |
109,354,322 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9694:Slc16a6
|
UTSW |
11 |
109,354,322 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Posted On |
2016-08-02 |
Incidental Mutation