Incidental Mutation 'R6846:Slc16a13'
| ID |
534773 |
| 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 |
044952-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.568)
|
| Stock # |
R6846 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
70107615-70111890 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70108661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 390
(T390A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053218
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060010]
[ENSMUST00000094055]
[ENSMUST00000123716]
[ENSMUST00000126296]
[ENSMUST00000126388]
[ENSMUST00000136328]
[ENSMUST00000141290]
[ENSMUST00000153993]
[ENSMUST00000159867]
[ENSMUST00000171032]
[ENSMUST00000190533]
|
| AlphaFold |
Q8CE94 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060010
AA Change: T390A
PolyPhen 2
Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000053218
Gene: ENSMUSG00000044367
AA Change: T390A
| 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 |
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 |
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 |
|
| 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: 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: 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: 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: ENSMUST00000190533
|
| Meta Mutation Damage Score |
0.1358 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,989,221 (GRCm39) |
N3502D |
possibly damaging |
Het |
| Ambn |
T |
A |
5: 88,609,574 (GRCm39) |
I94K |
possibly damaging |
Het |
| Ank3 |
A |
G |
10: 69,660,179 (GRCm39) |
H227R |
probably damaging |
Het |
| Arhgap42 |
G |
T |
9: 9,006,446 (GRCm39) |
P650Q |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,162,422 (GRCm39) |
E240G |
possibly damaging |
Het |
| Cd19 |
T |
C |
7: 126,010,025 (GRCm39) |
E408G |
probably benign |
Het |
| Cdh11 |
G |
A |
8: 103,391,276 (GRCm39) |
T320I |
probably damaging |
Het |
| Cep131 |
G |
A |
11: 119,956,517 (GRCm39) |
R944W |
probably damaging |
Het |
| Dgkd |
T |
G |
1: 87,853,413 (GRCm39) |
|
probably null |
Het |
| Dnaaf1 |
T |
A |
8: 120,309,401 (GRCm39) |
L163Q |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,814,081 (GRCm39) |
C1342R |
possibly damaging |
Het |
| Etl4 |
T |
A |
2: 20,748,919 (GRCm39) |
L550Q |
possibly damaging |
Het |
| Evpl |
T |
C |
11: 116,114,633 (GRCm39) |
E1019G |
probably damaging |
Het |
| Fam120b |
T |
C |
17: 15,635,091 (GRCm39) |
L601P |
probably damaging |
Het |
| Fhit |
C |
A |
14: 9,763,762 (GRCm38) |
R172L |
possibly damaging |
Het |
| Hoxa6 |
T |
C |
6: 52,183,523 (GRCm39) |
H174R |
possibly damaging |
Het |
| Htra4 |
A |
G |
8: 25,520,561 (GRCm39) |
F367L |
probably damaging |
Het |
| Ighg2c |
A |
G |
12: 113,251,930 (GRCm39) |
I102T |
unknown |
Het |
| Iws1 |
T |
C |
18: 32,219,326 (GRCm39) |
|
probably benign |
Het |
| Lats2 |
A |
G |
14: 57,933,591 (GRCm39) |
V842A |
probably damaging |
Het |
| Limd2 |
C |
T |
11: 106,050,213 (GRCm39) |
M1I |
probably null |
Het |
| Lrp2 |
T |
A |
2: 69,348,787 (GRCm39) |
Q728L |
probably damaging |
Het |
| Mcc |
T |
A |
18: 44,606,707 (GRCm39) |
T400S |
possibly damaging |
Het |
| Mthfd1l |
A |
G |
10: 3,997,898 (GRCm39) |
D623G |
probably damaging |
Het |
| Myocos |
T |
C |
1: 162,484,665 (GRCm39) |
|
probably benign |
Het |
| Nat1 |
G |
T |
8: 67,943,995 (GRCm39) |
A124S |
probably benign |
Het |
| Nfya |
A |
T |
17: 48,702,715 (GRCm39) |
M62K |
probably benign |
Het |
| Nlgn1 |
A |
G |
3: 25,490,506 (GRCm39) |
V378A |
probably damaging |
Het |
| Or52r1c |
T |
A |
7: 102,735,265 (GRCm39) |
I175N |
possibly damaging |
Het |
| Or5ak22 |
A |
T |
2: 85,230,861 (GRCm39) |
N5K |
probably damaging |
Het |
| Pitpnm2 |
T |
C |
5: 124,269,234 (GRCm39) |
S463G |
probably benign |
Het |
| Serpinb3b |
T |
C |
1: 107,082,403 (GRCm39) |
E287G |
probably benign |
Het |
| Slc7a14 |
A |
G |
3: 31,278,372 (GRCm39) |
M411T |
probably damaging |
Het |
| Strn |
A |
G |
17: 79,043,886 (GRCm39) |
F11L |
probably damaging |
Het |
| Swap70 |
T |
A |
7: 109,854,956 (GRCm39) |
F85L |
possibly damaging |
Het |
| Tanc2 |
T |
A |
11: 105,689,479 (GRCm39) |
W214R |
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,729,773 (GRCm39) |
K1411R |
probably benign |
Het |
| Tmem176a |
G |
T |
6: 48,820,759 (GRCm39) |
R116L |
probably damaging |
Het |
| Trim71 |
G |
T |
9: 114,354,115 (GRCm39) |
H296Q |
probably damaging |
Het |
| Vmn1r67 |
A |
T |
7: 10,180,840 (GRCm39) |
I35L |
probably benign |
Het |
| Vnn3 |
A |
G |
10: 23,727,620 (GRCm39) |
T47A |
probably benign |
Het |
| Zscan10 |
A |
T |
17: 23,824,581 (GRCm39) |
Q12H |
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 |
|
R1086:Slc16a13
|
UTSW |
11 |
70,109,850 (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 |
|
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'- CTGTACTTCTGTAGATGCCGTG -3'
(R):5'- TGGGAGTTCCATCTCTTGCAG -3'
Sequencing Primer
(F):5'- TGGTGAGGCCAAAGACCTG -3'
(R):5'- GAGTTCCATCTCTTGCAGGACAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation