Incidental Mutation 'IGL01728:Slc16a12'
| ID |
105352 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc16a12
|
| Ensembl Gene |
ENSMUSG00000009378 |
| Gene Name |
solute carrier family 16 (monocarboxylic acid transporters), member 12 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL01728
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
34645803-34724689 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34668071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 28
(V28A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009522]
|
| AlphaFold |
Q8BGC3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000009522
AA Change: V28A
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000009522
Gene: ENSMUSG00000009378
AA Change: V28A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
25 |
232 |
5.6e-23 |
PFAM |
|
Pfam:MFS_1
|
253 |
465 |
1.5e-16 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane transporter that likely plays a role in monocarboxylic acid transport. A mutation in this gene has been associated with juvenile cataracts with microcornea and renal glucosuria. [provided by RefSeq, Mar 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
A |
G |
1: 53,221,668 (GRCm39) |
S54P |
probably benign |
Het |
| Adamtsl1 |
T |
C |
4: 86,029,074 (GRCm39) |
I71T |
probably damaging |
Het |
| Agbl3 |
T |
C |
6: 34,759,092 (GRCm39) |
M1T |
probably null |
Het |
| Ankib1 |
A |
G |
5: 3,751,992 (GRCm39) |
|
probably benign |
Het |
| Brinp3 |
T |
G |
1: 146,707,289 (GRCm39) |
|
probably null |
Het |
| Chuk |
T |
C |
19: 44,087,085 (GRCm39) |
N138S |
possibly damaging |
Het |
| Dock7 |
G |
A |
4: 98,850,568 (GRCm39) |
T1588M |
probably damaging |
Het |
| Ehbp1 |
G |
A |
11: 22,051,115 (GRCm39) |
T479I |
probably damaging |
Het |
| Gpn2 |
T |
C |
4: 133,311,813 (GRCm39) |
I15T |
possibly damaging |
Het |
| H3c2 |
G |
A |
13: 23,936,712 (GRCm39) |
R117H |
probably benign |
Het |
| Haao |
A |
G |
17: 84,142,658 (GRCm39) |
F149S |
probably damaging |
Het |
| Iqsec3 |
T |
A |
6: 121,389,623 (GRCm39) |
|
probably benign |
Het |
| Lrrc39 |
G |
T |
3: 116,373,149 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
C |
A |
12: 84,837,783 (GRCm39) |
S1199I |
probably damaging |
Het |
| Mageb3 |
G |
T |
2: 121,784,941 (GRCm39) |
P254T |
probably damaging |
Het |
| Mapkbp1 |
C |
T |
2: 119,854,302 (GRCm39) |
P1300S |
probably damaging |
Het |
| Mtfmt |
T |
A |
9: 65,343,100 (GRCm39) |
L2H |
probably damaging |
Het |
| Myo18a |
G |
T |
11: 77,668,682 (GRCm39) |
G181W |
probably damaging |
Het |
| Mzf1 |
T |
C |
7: 12,785,654 (GRCm39) |
|
probably benign |
Het |
| Nfatc2 |
A |
T |
2: 168,378,162 (GRCm39) |
L280Q |
probably damaging |
Het |
| Nudt15 |
A |
G |
14: 73,760,736 (GRCm39) |
|
probably null |
Het |
| Or51k2 |
T |
C |
7: 103,595,959 (GRCm39) |
F62S |
probably damaging |
Het |
| Or8b53 |
A |
G |
9: 38,667,391 (GRCm39) |
M136V |
possibly damaging |
Het |
| Parp14 |
A |
G |
16: 35,677,805 (GRCm39) |
V721A |
probably damaging |
Het |
| Pbp2 |
G |
T |
6: 135,287,073 (GRCm39) |
N91K |
probably damaging |
Het |
| Pde7b |
C |
A |
10: 20,310,210 (GRCm39) |
|
probably null |
Het |
| Pramel7 |
C |
A |
2: 87,321,674 (GRCm39) |
E120D |
possibly damaging |
Het |
| Rbbp5 |
C |
T |
1: 132,425,818 (GRCm39) |
T516M |
probably benign |
Het |
| Slc6a9 |
T |
C |
4: 117,721,802 (GRCm39) |
F276S |
probably damaging |
Het |
| Spata9 |
A |
T |
13: 76,141,193 (GRCm39) |
I147L |
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,545,271 (GRCm39) |
Y2429F |
probably damaging |
Het |
| Tmtc1 |
A |
G |
6: 148,312,564 (GRCm39) |
S212P |
probably benign |
Het |
| Unc5cl |
A |
T |
17: 48,766,991 (GRCm39) |
I122F |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,131,943 (GRCm39) |
F2350I |
probably damaging |
Het |
|
| Other mutations in Slc16a12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01377:Slc16a12
|
APN |
19 |
34,650,084 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
PIT1430001:Slc16a12
|
UTSW |
19 |
34,654,759 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0017:Slc16a12
|
UTSW |
19 |
34,650,098 (GRCm39) |
splice site |
probably benign |
|
|
R0122:Slc16a12
|
UTSW |
19 |
34,652,264 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0140:Slc16a12
|
UTSW |
19 |
34,650,104 (GRCm39) |
splice site |
probably benign |
|
|
R1669:Slc16a12
|
UTSW |
19 |
34,657,781 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1824:Slc16a12
|
UTSW |
19 |
34,648,278 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4033:Slc16a12
|
UTSW |
19 |
34,652,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4669:Slc16a12
|
UTSW |
19 |
34,649,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4703:Slc16a12
|
UTSW |
19 |
34,652,291 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4832:Slc16a12
|
UTSW |
19 |
34,657,780 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4937:Slc16a12
|
UTSW |
19 |
34,652,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4997:Slc16a12
|
UTSW |
19 |
34,652,358 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5613:Slc16a12
|
UTSW |
19 |
34,652,358 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5725:Slc16a12
|
UTSW |
19 |
34,652,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6139:Slc16a12
|
UTSW |
19 |
34,648,295 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6417:Slc16a12
|
UTSW |
19 |
34,650,097 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6420:Slc16a12
|
UTSW |
19 |
34,650,097 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6947:Slc16a12
|
UTSW |
19 |
34,650,007 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7694:Slc16a12
|
UTSW |
19 |
34,648,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7819:Slc16a12
|
UTSW |
19 |
34,652,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7860:Slc16a12
|
UTSW |
19 |
34,652,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8882:Slc16a12
|
UTSW |
19 |
34,649,854 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2014-01-21 |
Incidental Mutation