Incidental Mutation 'R6417:Slc16a12'
| ID |
518135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc16a12
|
| Ensembl Gene |
ENSMUSG00000009378 |
| Gene Name |
solute carrier family 16 (monocarboxylic acid transporters), member 12 |
| Synonyms |
|
| MMRRC Submission |
044559-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R6417 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
34645803-34724689 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 34650097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009522]
[ENSMUST00000009522]
|
| AlphaFold |
Q8BGC3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000009522
|
| SMART Domains |
Protein: ENSMUSP00000009522
Gene: ENSMUSG00000009378
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
25 |
232 |
5.6e-23 |
PFAM |
|
Pfam:MFS_1
|
253 |
465 |
1.5e-16 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000009522
|
| SMART Domains |
Protein: ENSMUSP00000009522
Gene: ENSMUSG00000009378
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
25 |
232 |
5.6e-23 |
PFAM |
|
Pfam:MFS_1
|
253 |
465 |
1.5e-16 |
PFAM |
|
| Meta Mutation Damage Score |
0.9493 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 92.8%
|
| Validation Efficiency |
97% (30/31) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
G |
7: 119,996,351 (GRCm39) |
K1426E |
possibly damaging |
Het |
| Abra |
C |
T |
15: 41,729,452 (GRCm39) |
R316H |
probably benign |
Het |
| Adam7 |
T |
A |
14: 68,742,070 (GRCm39) |
T729S |
probably benign |
Het |
| Arhgef17 |
A |
G |
7: 100,579,269 (GRCm39) |
S560P |
probably damaging |
Het |
| Asb13 |
G |
A |
13: 3,693,574 (GRCm39) |
V111I |
probably damaging |
Het |
| Eif2ak2 |
A |
C |
17: 79,164,048 (GRCm39) |
L439R |
probably damaging |
Het |
| Lrrk2 |
C |
T |
15: 91,696,549 (GRCm39) |
R2446C |
probably benign |
Het |
| Map3k10 |
A |
G |
7: 27,362,709 (GRCm39) |
F459S |
probably damaging |
Het |
| Med1 |
T |
C |
11: 98,048,054 (GRCm39) |
D914G |
probably damaging |
Het |
| Or4d10 |
T |
G |
19: 12,051,324 (GRCm39) |
K224T |
probably benign |
Het |
| Or5b24 |
A |
C |
19: 12,912,584 (GRCm39) |
T161P |
probably damaging |
Het |
| Or8b39 |
T |
A |
9: 37,996,890 (GRCm39) |
S253T |
probably benign |
Het |
| Or8b41 |
T |
G |
9: 38,054,611 (GRCm39) |
L55R |
probably damaging |
Het |
| Or8k38 |
A |
T |
2: 86,488,510 (GRCm39) |
C97* |
probably null |
Het |
| Pkd1l2 |
C |
T |
8: 117,740,638 (GRCm39) |
C2153Y |
probably damaging |
Het |
| Plk5 |
T |
C |
10: 80,199,906 (GRCm39) |
V471A |
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,103,542 (GRCm39) |
I1906T |
probably damaging |
Het |
| Slc25a23 |
T |
C |
17: 57,359,780 (GRCm39) |
I324V |
probably damaging |
Het |
| Sord |
A |
T |
2: 122,094,602 (GRCm39) |
K330M |
possibly damaging |
Het |
| Srp54b |
T |
A |
12: 55,296,855 (GRCm39) |
F184L |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tcte1 |
A |
G |
17: 45,846,056 (GRCm39) |
E220G |
probably damaging |
Het |
| Tfrc |
C |
T |
16: 32,449,057 (GRCm39) |
T732I |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,770,297 (GRCm39) |
T696A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,542,619 (GRCm39) |
Y33456H |
possibly damaging |
Het |
| Unc45a |
C |
G |
7: 79,989,400 (GRCm39) |
E23Q |
probably benign |
Het |
| Urb2 |
C |
T |
8: 124,773,938 (GRCm39) |
R1490W |
probably damaging |
Het |
| Wdr64 |
A |
T |
1: 175,553,956 (GRCm39) |
D162V |
probably damaging |
Het |
| Zfp959 |
G |
A |
17: 56,205,094 (GRCm39) |
G377D |
probably damaging |
Het |
| Zswim3 |
G |
A |
2: 164,662,653 (GRCm39) |
V378M |
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 |
|
IGL01728:Slc16a12
|
APN |
19 |
34,668,071 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTATCTCTGCAGTCACGACC -3'
(R):5'- AACACCATACTATGCTTCCTGC -3'
Sequencing Primer
(F):5'- TCACGACCGGGATCAAGGTAAC -3'
(R):5'- AATATGGCCTCCATGGTAGC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation