Incidental Mutation 'R5544:Slc16a11'
| ID |
436159 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc16a11
|
| Ensembl Gene |
ENSMUSG00000040938 |
| Gene Name |
solute carrier family 16 (monocarboxylic acid transporters), member 11 |
| Synonyms |
MNCb-2717 |
| MMRRC Submission |
043102-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5544 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
70104717-70107239 bp(+) (GRCm39) |
| Type of Mutation |
splice site (13 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 70105826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122586
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060010]
[ENSMUST00000094055]
[ENSMUST00000123716]
[ENSMUST00000126296]
[ENSMUST00000126388]
[ENSMUST00000153993]
[ENSMUST00000171032]
[ENSMUST00000136328]
[ENSMUST00000141290]
[ENSMUST00000159867]
[ENSMUST00000190533]
|
| AlphaFold |
Q5NC32 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060010
|
| SMART Domains |
Protein: ENSMUSP00000053218
Gene: ENSMUSG00000044367
| 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 damaging
Transcript: ENSMUST00000094055
AA Change: V83E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091597
Gene: ENSMUSG00000040938
AA Change: V83E
| 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 damaging
Transcript: ENSMUST00000126296
AA Change: V83E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118381
Gene: ENSMUSG00000040938
AA Change: V83E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
16 |
196 |
2e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126388
AA Change: V83E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116648
Gene: ENSMUSG00000040938
AA Change: V83E
| 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 |
probably null
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 damaging
Transcript: ENSMUST00000171032
AA Change: V83E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128419
Gene: ENSMUSG00000040938
AA Change: V83E
| 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 |
noncoding transcript
Transcript: ENSMUST00000149880
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144494
|
| 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: 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts8 |
G |
A |
9: 30,863,999 (GRCm39) |
A372T |
probably damaging |
Het |
| Ap4m1 |
A |
G |
5: 138,176,632 (GRCm39) |
T411A |
probably benign |
Het |
| Arid3b |
T |
A |
9: 57,705,380 (GRCm39) |
K274* |
probably null |
Het |
| Bcan |
A |
G |
3: 87,900,360 (GRCm39) |
|
probably null |
Het |
| Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
| C9 |
T |
A |
15: 6,526,508 (GRCm39) |
V514D |
probably damaging |
Het |
| Cdk2 |
A |
C |
10: 128,535,008 (GRCm39) |
D336E |
probably benign |
Het |
| Corin |
A |
T |
5: 72,462,357 (GRCm39) |
Y825* |
probably null |
Het |
| Cyp17a1 |
A |
G |
19: 46,661,093 (GRCm39) |
Y64H |
probably damaging |
Het |
| Dock4 |
T |
G |
12: 40,884,701 (GRCm39) |
I1735S |
possibly damaging |
Het |
| Dock7 |
T |
C |
4: 98,855,494 (GRCm39) |
H1486R |
probably damaging |
Het |
| Fam171b |
C |
A |
2: 83,685,871 (GRCm39) |
A185D |
possibly damaging |
Het |
| Fbxl13 |
A |
G |
5: 21,729,489 (GRCm39) |
I441T |
probably damaging |
Het |
| Gm7347 |
T |
A |
5: 26,260,016 (GRCm39) |
D178V |
possibly damaging |
Het |
| Greb1 |
C |
A |
12: 16,723,797 (GRCm39) |
C1884F |
probably damaging |
Het |
| Kdr |
G |
A |
5: 76,121,403 (GRCm39) |
R536* |
probably null |
Het |
| Lamc2 |
T |
C |
1: 152,999,799 (GRCm39) |
T1187A |
possibly damaging |
Het |
| Mal |
T |
A |
2: 127,476,937 (GRCm39) |
H142L |
probably damaging |
Het |
| Map4k2 |
A |
C |
19: 6,395,944 (GRCm39) |
|
probably null |
Het |
| Morn4 |
T |
C |
19: 42,064,686 (GRCm39) |
T101A |
possibly damaging |
Het |
| Neto2 |
A |
G |
8: 86,374,506 (GRCm39) |
V241A |
possibly damaging |
Het |
| Nprl2 |
T |
C |
9: 107,421,808 (GRCm39) |
V232A |
probably benign |
Het |
| Pcdhb13 |
T |
C |
18: 37,576,573 (GRCm39) |
V317A |
possibly damaging |
Het |
| Pcdhb17 |
T |
A |
18: 37,620,474 (GRCm39) |
C755S |
possibly damaging |
Het |
| Pgc |
A |
G |
17: 48,043,429 (GRCm39) |
D259G |
probably benign |
Het |
| Ptprh |
C |
A |
7: 4,583,909 (GRCm39) |
E228* |
probably null |
Het |
| R3hdml |
A |
G |
2: 163,340,342 (GRCm39) |
T170A |
probably damaging |
Het |
| Retreg2 |
T |
G |
1: 75,121,333 (GRCm39) |
*174G |
probably null |
Het |
| Rps6ka1 |
A |
G |
4: 133,599,326 (GRCm39) |
S34P |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,305,780 (GRCm39) |
T1038A |
possibly damaging |
Het |
| Sel1l3 |
A |
T |
5: 53,357,644 (GRCm39) |
V116D |
probably damaging |
Het |
| Sidt2 |
A |
T |
9: 45,855,753 (GRCm39) |
Y509N |
probably damaging |
Het |
| Thsd7a |
G |
T |
6: 12,379,470 (GRCm39) |
Q985K |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,556,882 (GRCm39) |
N30041S |
probably benign |
Het |
| Vmn1r231 |
A |
G |
17: 21,110,840 (GRCm39) |
I25T |
probably damaging |
Het |
| Wdr81 |
T |
C |
11: 75,332,623 (GRCm39) |
D1926G |
probably damaging |
Het |
|
| Other mutations in Slc16a11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02678:Slc16a11
|
APN |
11 |
70,106,242 (GRCm39) |
missense |
probably damaging |
0.99 |
|
shanxi
|
UTSW |
11 |
70,106,477 (GRCm39) |
nonsense |
probably null |
|
|
taihang
|
UTSW |
11 |
70,106,560 (GRCm39) |
splice site |
probably null |
|
|
R0619:Slc16a11
|
UTSW |
11 |
70,105,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2044:Slc16a11
|
UTSW |
11 |
70,106,477 (GRCm39) |
nonsense |
probably null |
|
|
R2110:Slc16a11
|
UTSW |
11 |
70,106,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4408:Slc16a11
|
UTSW |
11 |
70,106,560 (GRCm39) |
splice site |
probably null |
|
|
R4633:Slc16a11
|
UTSW |
11 |
70,107,205 (GRCm39) |
splice site |
probably null |
|
|
R5255:Slc16a11
|
UTSW |
11 |
70,106,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5901:Slc16a11
|
UTSW |
11 |
70,107,172 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6116:Slc16a11
|
UTSW |
11 |
70,106,262 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6993:Slc16a11
|
UTSW |
11 |
70,106,842 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7658:Slc16a11
|
UTSW |
11 |
70,106,143 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9043:Slc16a11
|
UTSW |
11 |
70,106,520 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAAATTCTAGAAGAGTGGGTC -3'
(R):5'- ACAGGCATGGCTTTGCAAAC -3'
Sequencing Primer
(F):5'- CTTGAGGTCAATGGGAGGAGTTACC -3'
(R):5'- GGCATGGCTTTGCAAACATTCTTTAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation