Incidental Mutation 'R1086:Slc16a13'
| ID |
85036 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc16a13
|
| Ensembl Gene |
ENSMUSG00000044367 |
| Gene Name |
solute carrier family 16 (monocarboxylic acid transporters), member 13 |
| Synonyms |
1700007D07Rik |
| MMRRC Submission |
039172-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.568)
|
| Stock # |
R1086 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
70107615-70111890 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70109850 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 217
(L217P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053218
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060010]
[ENSMUST00000094055]
[ENSMUST00000123716]
[ENSMUST00000126296]
[ENSMUST00000126388]
[ENSMUST00000141290]
[ENSMUST00000171032]
[ENSMUST00000159867]
[ENSMUST00000190533]
[ENSMUST00000153993]
[ENSMUST00000136328]
|
| AlphaFold |
Q8CE94 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060010
AA Change: L217P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000053218
Gene: ENSMUSG00000044367
AA Change: L217P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
14 |
277 |
1.7e-22 |
PFAM |
|
Pfam:MFS_1
|
219 |
423 |
6.8e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094055
|
| SMART Domains |
Protein: ENSMUSP00000091597
Gene: ENSMUSG00000040938
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
17 |
340 |
5.5e-24 |
PFAM |
|
transmembrane domain
|
343 |
365 |
N/A |
INTRINSIC |
|
transmembrane domain
|
380 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
420 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122852
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123716
|
| SMART Domains |
Protein: ENSMUSP00000114871
Gene: ENSMUSG00000040938
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126296
|
| SMART Domains |
Protein: ENSMUSP00000118381
Gene: ENSMUSG00000040938
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
16 |
196 |
2e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126388
|
| SMART Domains |
Protein: ENSMUSP00000116648
Gene: ENSMUSG00000040938
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
17 |
340 |
5.5e-24 |
PFAM |
|
transmembrane domain
|
343 |
365 |
N/A |
INTRINSIC |
|
transmembrane domain
|
380 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
420 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131468
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144494
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149880
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141290
|
| SMART Domains |
Protein: ENSMUSP00000116316
Gene: ENSMUSG00000044367
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
transmembrane domain
|
52 |
74 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171032
|
| SMART Domains |
Protein: ENSMUSP00000128419
Gene: ENSMUSG00000040938
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
17 |
316 |
1.8e-24 |
PFAM |
|
transmembrane domain
|
343 |
365 |
N/A |
INTRINSIC |
|
transmembrane domain
|
380 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
420 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159867
|
| SMART Domains |
Protein: ENSMUSP00000124687
Gene: ENSMUSG00000044367
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190533
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153993
|
| SMART Domains |
Protein: ENSMUSP00000122586
Gene: ENSMUSG00000040938
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
68 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136328
|
| SMART Domains |
Protein: ENSMUSP00000115212
Gene: ENSMUSG00000040938
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
66 |
297 |
8.3e-10 |
PFAM |
|
low complexity region
|
306 |
324 |
N/A |
INTRINSIC |
|
transmembrane domain
|
332 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
372 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6964 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.4%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,334,220 (GRCm39) |
|
probably benign |
Het |
| Agbl4 |
G |
C |
4: 110,335,791 (GRCm39) |
|
probably benign |
Het |
| Ano6 |
T |
C |
15: 95,847,843 (GRCm39) |
|
probably null |
Het |
| B3gnt8 |
C |
G |
7: 25,327,736 (GRCm39) |
N55K |
probably damaging |
Het |
| Brox |
A |
G |
1: 183,064,052 (GRCm39) |
Y252H |
probably damaging |
Het |
| Cfap100 |
T |
A |
6: 90,380,890 (GRCm39) |
K605* |
probably null |
Het |
| Chd7 |
A |
G |
4: 8,866,458 (GRCm39) |
T877A |
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,559,151 (GRCm39) |
I2371F |
probably damaging |
Het |
| Cwc22 |
T |
A |
2: 77,754,824 (GRCm39) |
|
probably benign |
Het |
| Cyp2s1 |
A |
T |
7: 25,505,422 (GRCm39) |
D347E |
probably damaging |
Het |
| Dab1 |
C |
A |
4: 104,185,769 (GRCm39) |
|
probably benign |
Het |
| Dis3l2 |
G |
A |
1: 86,917,871 (GRCm39) |
D493N |
probably benign |
Het |
| Got1l1 |
A |
G |
8: 27,688,007 (GRCm39) |
W341R |
probably damaging |
Het |
| Gps2 |
A |
G |
11: 69,806,050 (GRCm39) |
|
probably benign |
Het |
| Haus1 |
A |
C |
18: 77,854,553 (GRCm39) |
|
probably benign |
Het |
| Itgam |
T |
C |
7: 127,679,436 (GRCm39) |
S193P |
probably damaging |
Het |
| Itpr2 |
C |
A |
6: 146,251,543 (GRCm39) |
A1034S |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,699,476 (GRCm39) |
R270G |
probably benign |
Het |
| Ltbr |
G |
A |
6: 125,289,703 (GRCm39) |
|
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,552,876 (GRCm39) |
|
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,862,813 (GRCm39) |
M1387K |
probably damaging |
Het |
| Nwd2 |
C |
T |
5: 63,963,917 (GRCm39) |
S1167L |
probably damaging |
Het |
| Or5h19 |
T |
A |
16: 58,856,626 (GRCm39) |
H158L |
probably damaging |
Het |
| Pfkm |
T |
C |
15: 98,029,546 (GRCm39) |
V719A |
probably benign |
Het |
| Ppfia3 |
C |
G |
7: 45,011,182 (GRCm39) |
G16A |
probably damaging |
Het |
| Ppp2r3d |
G |
A |
9: 101,031,021 (GRCm39) |
T245I |
possibly damaging |
Het |
| Ptprd |
T |
C |
4: 76,051,495 (GRCm39) |
T256A |
probably damaging |
Het |
| Ptprg |
C |
T |
14: 11,952,706 (GRCm38) |
|
probably benign |
Het |
| Rabgap1 |
T |
C |
2: 37,359,458 (GRCm39) |
V7A |
probably damaging |
Het |
| Rnh1 |
T |
G |
7: 140,743,282 (GRCm39) |
Q231P |
probably benign |
Het |
| Rwdd2b |
C |
T |
16: 87,233,446 (GRCm39) |
|
probably benign |
Het |
| Saal1 |
T |
C |
7: 46,338,883 (GRCm39) |
|
probably benign |
Het |
| Sap130 |
G |
A |
18: 31,783,673 (GRCm39) |
|
probably benign |
Het |
| Serpina1d |
T |
G |
12: 103,730,046 (GRCm39) |
M379L |
probably benign |
Het |
| Skor2 |
A |
C |
18: 76,946,994 (GRCm39) |
S239R |
unknown |
Het |
| Slc18b1 |
T |
C |
10: 23,679,693 (GRCm39) |
M74T |
probably benign |
Het |
| Speer4e2 |
T |
C |
5: 15,028,804 (GRCm39) |
D29G |
probably benign |
Het |
| Tacc2 |
A |
T |
7: 130,228,227 (GRCm39) |
E1637D |
possibly damaging |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tg |
A |
C |
15: 66,555,911 (GRCm39) |
I868L |
probably benign |
Het |
| Ttll5 |
G |
A |
12: 85,937,853 (GRCm39) |
V395I |
possibly damaging |
Het |
| Uba6 |
C |
A |
5: 86,275,578 (GRCm39) |
C739F |
probably benign |
Het |
| Unc5d |
A |
C |
8: 29,365,658 (GRCm39) |
V109G |
possibly damaging |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
| Zfp462 |
G |
T |
4: 55,013,000 (GRCm39) |
K507N |
probably damaging |
Het |
|
| Other mutations in Slc16a13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01343:Slc16a13
|
APN |
11 |
70,111,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0729:Slc16a13
|
UTSW |
11 |
70,109,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0792:Slc16a13
|
UTSW |
11 |
70,111,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1588:Slc16a13
|
UTSW |
11 |
70,109,421 (GRCm39) |
nonsense |
probably null |
|
|
R1593:Slc16a13
|
UTSW |
11 |
70,109,908 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4329:Slc16a13
|
UTSW |
11 |
70,108,723 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4688:Slc16a13
|
UTSW |
11 |
70,111,101 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6846:Slc16a13
|
UTSW |
11 |
70,108,661 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7380:Slc16a13
|
UTSW |
11 |
70,110,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7390:Slc16a13
|
UTSW |
11 |
70,109,797 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7514:Slc16a13
|
UTSW |
11 |
70,109,710 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7807:Slc16a13
|
UTSW |
11 |
70,111,388 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7888:Slc16a13
|
UTSW |
11 |
70,109,806 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9104:Slc16a13
|
UTSW |
11 |
70,111,530 (GRCm39) |
intron |
probably benign |
|
|
R9630:Slc16a13
|
UTSW |
11 |
70,108,597 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCGATACTCTCGATCATCTGCAC -3'
(R):5'- TCAACAACTATGCCTGGAGAGGGG -3'
Sequencing Primer
(F):5'- TCCTGATGTGAAACCATAGGC -3'
(R):5'- GGCCCTCTTGCTAGTGTCTG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation