Incidental Mutation 'R6116:Slc16a11'
| ID |
485129 |
| 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 |
044265-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6116 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
70104717-70107239 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70106262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 119
(F119L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060010]
[ENSMUST00000094055]
[ENSMUST00000123716]
[ENSMUST00000126296]
[ENSMUST00000126388]
[ENSMUST00000136328]
[ENSMUST00000171032]
[ENSMUST00000190533]
[ENSMUST00000153993]
[ENSMUST00000141290]
[ENSMUST00000159867]
|
| 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 benign
Transcript: ENSMUST00000094055
AA Change: F167L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000091597
Gene: ENSMUSG00000040938
AA Change: F167L
| 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
AA Change: F167L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000118381
Gene: ENSMUSG00000040938
AA Change: F167L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
16 |
196 |
2e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126388
AA Change: F167L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000116648
Gene: ENSMUSG00000040938
AA Change: F167L
| 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 benign
Transcript: ENSMUST00000136328
AA Change: F119L
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000115212
Gene: ENSMUSG00000040938
AA Change: F119L
| 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: ENSMUST00000171032
AA Change: F167L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000128419
Gene: ENSMUSG00000040938
AA Change: F167L
| 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: ENSMUST00000144494
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149880
|
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
A |
19: 8,990,327 (GRCm39) |
|
probably benign |
Het |
| Apc |
A |
T |
18: 34,449,508 (GRCm39) |
I2101F |
probably damaging |
Het |
| Bpifa3 |
G |
A |
2: 153,975,633 (GRCm39) |
V68I |
possibly damaging |
Het |
| Csmd1 |
T |
A |
8: 16,261,864 (GRCm39) |
I878F |
probably damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,605,879 (GRCm39) |
M339K |
probably damaging |
Het |
| Dock3 |
A |
G |
9: 106,809,161 (GRCm39) |
Y1321H |
probably damaging |
Het |
| Dsc1 |
G |
T |
18: 20,230,356 (GRCm39) |
D316E |
probably benign |
Het |
| Eno3 |
C |
T |
11: 70,552,401 (GRCm39) |
T351M |
possibly damaging |
Het |
| Erbb2 |
T |
A |
11: 98,318,225 (GRCm39) |
F487Y |
probably damaging |
Het |
| Exosc10 |
T |
C |
4: 148,657,810 (GRCm39) |
L652P |
probably benign |
Het |
| Glmn |
A |
T |
5: 107,705,206 (GRCm39) |
M470K |
probably damaging |
Het |
| Gm15446 |
T |
A |
5: 110,090,902 (GRCm39) |
C385S |
probably damaging |
Het |
| Hspa8 |
A |
G |
9: 40,716,271 (GRCm39) |
E581G |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,898,205 (GRCm39) |
D787G |
probably benign |
Het |
| Igkv12-44 |
T |
C |
6: 69,791,838 (GRCm39) |
T42A |
possibly damaging |
Het |
| Itsn2 |
T |
C |
12: 4,679,939 (GRCm39) |
|
probably benign |
Het |
| Jade2 |
T |
C |
11: 51,726,460 (GRCm39) |
E84G |
probably damaging |
Het |
| Lpar3 |
T |
A |
3: 145,946,352 (GRCm39) |
M10K |
possibly damaging |
Het |
| Lpin2 |
A |
G |
17: 71,550,925 (GRCm39) |
D695G |
probably damaging |
Het |
| Mosmo |
T |
A |
7: 120,325,418 (GRCm39) |
L7H |
probably damaging |
Het |
| Ms4a8a |
C |
T |
19: 11,058,436 (GRCm39) |
A9T |
unknown |
Het |
| Myb |
T |
C |
10: 21,030,653 (GRCm39) |
D48G |
probably damaging |
Het |
| Neurod6 |
T |
C |
6: 55,655,776 (GRCm39) |
Y287C |
probably damaging |
Het |
| Olr1 |
T |
A |
6: 129,476,947 (GRCm39) |
D106V |
probably damaging |
Het |
| Or11a4 |
A |
G |
17: 37,536,459 (GRCm39) |
T148A |
probably benign |
Het |
| Or8b4 |
A |
G |
9: 37,829,955 (GRCm39) |
M1V |
probably null |
Het |
| Peg10 |
C |
CCCATCAGGA |
6: 4,756,351 (GRCm39) |
|
probably benign |
Het |
| Plch1 |
C |
T |
3: 63,609,444 (GRCm39) |
R912H |
probably damaging |
Het |
| Ppfia3 |
T |
C |
7: 45,004,127 (GRCm39) |
Y505C |
probably damaging |
Het |
| Sdk2 |
T |
A |
11: 113,745,190 (GRCm39) |
I702F |
probably damaging |
Het |
| Slc2a10 |
A |
C |
2: 165,359,623 (GRCm39) |
T496P |
probably damaging |
Het |
| Slc7a2 |
T |
C |
8: 41,353,206 (GRCm39) |
Y181H |
probably damaging |
Het |
| Spata31e5 |
G |
A |
1: 28,817,780 (GRCm39) |
A84V |
probably benign |
Het |
| Stab2 |
G |
T |
10: 86,743,054 (GRCm39) |
P1185Q |
probably damaging |
Het |
| Tcf7l2 |
T |
A |
19: 55,907,446 (GRCm39) |
S335R |
probably damaging |
Het |
| Ttc41 |
G |
A |
10: 86,594,952 (GRCm39) |
|
probably null |
Het |
| Vmn2r32 |
A |
T |
7: 7,467,092 (GRCm39) |
I812N |
probably damaging |
Het |
| Wdr24 |
C |
T |
17: 26,043,579 (GRCm39) |
H134Y |
probably benign |
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 |
|
R5544:Slc16a11
|
UTSW |
11 |
70,105,826 (GRCm39) |
splice site |
probably null |
|
|
R5901:Slc16a11
|
UTSW |
11 |
70,107,172 (GRCm39) |
missense |
probably benign |
0.02 |
|
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'- TGTCCTATCCATTTGCAGGC -3'
(R):5'- CCTTGATCTAAAGCATGCGGAC -3'
Sequencing Primer
(F):5'- ATCCATTTGCAGGCTCTGG -3'
(R):5'- TCTAAAGCATGCGGACCCAAATG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation