Incidental Mutation 'R7888:Slc16a13'
ID |
609168 |
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 |
045940-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.568)
|
Stock # |
R7888 (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 G
at 70109806 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 232
(I232L)
|
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 |
possibly damaging
Transcript: ENSMUST00000060010
AA Change: I232L
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000053218 Gene: ENSMUSG00000044367 AA Change: I232L
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (45/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox2 |
G |
T |
14: 8,246,415 (GRCm38) |
Q459K |
probably benign |
Het |
Ano3 |
T |
A |
2: 110,496,773 (GRCm39) |
Y792F |
probably damaging |
Het |
Aoc3 |
C |
T |
11: 101,223,323 (GRCm39) |
H520Y |
probably damaging |
Het |
Atp4b |
A |
G |
8: 13,439,811 (GRCm39) |
F137S |
probably damaging |
Het |
Blvrb |
A |
G |
7: 27,165,159 (GRCm39) |
T160A |
probably damaging |
Het |
Brd2 |
G |
A |
17: 34,335,995 (GRCm39) |
R73W |
probably damaging |
Het |
Btaf1 |
A |
G |
19: 36,943,036 (GRCm39) |
T306A |
probably benign |
Het |
Ccdc154 |
G |
A |
17: 25,383,578 (GRCm39) |
V212M |
possibly damaging |
Het |
Ccdc40 |
A |
G |
11: 119,119,967 (GRCm39) |
E3G |
unknown |
Het |
Cenpb |
T |
A |
2: 131,021,762 (GRCm39) |
E12V |
probably damaging |
Het |
Cnot8 |
T |
C |
11: 58,002,137 (GRCm39) |
S57P |
probably benign |
Het |
Cryba4 |
T |
C |
5: 112,398,918 (GRCm39) |
E42G |
probably benign |
Het |
Fam72a |
T |
A |
1: 131,456,578 (GRCm39) |
I47N |
probably damaging |
Het |
Gm27027 |
A |
C |
2: 93,787,880 (GRCm39) |
|
probably null |
Het |
Itgb2 |
T |
C |
10: 77,400,478 (GRCm39) |
V697A |
probably benign |
Het |
Jakmip1 |
A |
G |
5: 37,262,208 (GRCm39) |
N336D |
probably damaging |
Het |
Kansl1 |
T |
C |
11: 104,233,248 (GRCm39) |
T760A |
probably benign |
Het |
Lrrc37a |
T |
A |
11: 103,392,307 (GRCm39) |
E1039D |
probably benign |
Het |
Meaf6 |
T |
G |
4: 125,003,213 (GRCm39) |
|
probably null |
Het |
Mpz |
T |
C |
1: 170,987,204 (GRCm39) |
|
probably null |
Het |
Mtss1 |
A |
T |
15: 58,844,373 (GRCm39) |
M82K |
probably damaging |
Het |
Myo6 |
T |
C |
9: 80,203,947 (GRCm39) |
S1063P |
probably damaging |
Het |
Niban2 |
T |
A |
2: 32,812,137 (GRCm39) |
Y406* |
probably null |
Het |
Nsun6 |
T |
A |
2: 15,001,355 (GRCm39) |
E400D |
probably benign |
Het |
Or10al5 |
A |
T |
17: 38,062,888 (GRCm39) |
N48Y |
probably damaging |
Het |
Or1e26 |
T |
C |
11: 73,480,354 (GRCm39) |
D70G |
probably damaging |
Het |
Or1l4b |
A |
T |
2: 37,036,334 (GRCm39) |
M37L |
probably benign |
Het |
Or2t26 |
T |
C |
11: 49,039,266 (GRCm39) |
Y61H |
probably damaging |
Het |
Or52ae7 |
T |
A |
7: 103,120,006 (GRCm39) |
Y253* |
probably null |
Het |
Or5au1 |
A |
G |
14: 52,273,347 (GRCm39) |
S74P |
probably damaging |
Het |
Or8j3b |
C |
A |
2: 86,205,270 (GRCm39) |
C162F |
probably benign |
Het |
Pfdn5 |
T |
A |
15: 102,237,024 (GRCm39) |
V92E |
probably damaging |
Het |
Pik3c2g |
T |
C |
6: 139,842,470 (GRCm39) |
V801A |
|
Het |
Psme2b |
T |
A |
11: 48,836,402 (GRCm39) |
T182S |
possibly damaging |
Het |
Ptcd3 |
G |
A |
6: 71,860,431 (GRCm39) |
A592V |
probably damaging |
Het |
Rabgap1 |
T |
A |
2: 37,427,319 (GRCm39) |
Y633* |
probably null |
Het |
Rnf39 |
A |
T |
17: 37,258,133 (GRCm39) |
T222S |
probably damaging |
Het |
Scnn1g |
A |
G |
7: 121,342,878 (GRCm39) |
N277S |
probably damaging |
Het |
Slco2b1 |
T |
G |
7: 99,338,050 (GRCm39) |
R111S |
unknown |
Het |
Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
Tmc3 |
T |
C |
7: 83,249,217 (GRCm39) |
W269R |
probably damaging |
Het |
Vmn2r4 |
T |
C |
3: 64,313,943 (GRCm39) |
E346G |
probably damaging |
Het |
Vps52 |
A |
G |
17: 34,184,725 (GRCm39) |
N666S |
probably damaging |
Het |
Wdfy4 |
C |
T |
14: 32,812,920 (GRCm39) |
D1618N |
|
Het |
Zfp773 |
C |
A |
7: 7,135,978 (GRCm39) |
C206F |
probably benign |
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 |
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 |
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'- AAACAGGGCTAGTGACACCC -3'
(R):5'- TCAACAACTATGCCTGGAGAGG -3'
Sequencing Primer
(F):5'- GGCTAGTGACACCCCAGTC -3'
(R):5'- GGGCCCTCTTGCTAGTGTC -3'
|
Posted On |
2019-12-20 |