Incidental Mutation 'R6811:Slc16a4'
ID |
533795 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc16a4
|
Ensembl Gene |
ENSMUSG00000027896 |
Gene Name |
solute carrier family 16 (monocarboxylic acid transporters), member 4 |
Synonyms |
|
MMRRC Submission |
045018-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6811 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
107198546-107219431 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 107206233 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 101
(Y101C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102334
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029502]
[ENSMUST00000106723]
|
AlphaFold |
Q8R0M8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029502
AA Change: Y101C
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000029502 Gene: ENSMUSG00000027896 AA Change: Y101C
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
27 |
373 |
8.2e-26 |
PFAM |
Pfam:MFS_1
|
305 |
499 |
2e-17 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106723
AA Change: Y101C
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000102334 Gene: ENSMUSG00000027896 AA Change: Y101C
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
27 |
375 |
2.1e-28 |
PFAM |
Pfam:MFS_1
|
327 |
462 |
3.6e-11 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.1%
- 20x: 97.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb1 |
T |
C |
15: 74,401,210 (GRCm39) |
S69P |
probably damaging |
Het |
Alkbh7 |
G |
T |
17: 57,304,392 (GRCm39) |
R10L |
probably benign |
Het |
Ano3 |
T |
C |
2: 110,711,212 (GRCm39) |
E84G |
probably benign |
Het |
Asxl3 |
A |
G |
18: 22,655,968 (GRCm39) |
E1326G |
possibly damaging |
Het |
Atrnl1 |
T |
G |
19: 57,643,393 (GRCm39) |
M427R |
probably damaging |
Het |
Cenpf |
T |
C |
1: 189,386,739 (GRCm39) |
E1847G |
probably benign |
Het |
Csf1r |
T |
C |
18: 61,252,125 (GRCm39) |
Y536H |
probably damaging |
Het |
Dnm3 |
T |
C |
1: 162,148,652 (GRCm39) |
K240E |
probably damaging |
Het |
Dsc1 |
T |
G |
18: 20,222,711 (GRCm39) |
E587A |
probably benign |
Het |
Gm19410 |
C |
A |
8: 36,239,733 (GRCm39) |
A143E |
probably damaging |
Het |
Gm19965 |
G |
T |
1: 116,731,809 (GRCm39) |
L38F |
probably damaging |
Het |
Helz |
T |
C |
11: 107,510,144 (GRCm39) |
|
probably null |
Het |
Herc2 |
C |
T |
7: 55,763,181 (GRCm39) |
R929* |
probably null |
Het |
Iqcn |
T |
C |
8: 71,169,422 (GRCm39) |
S1171P |
probably benign |
Het |
Krt31 |
A |
G |
11: 99,939,242 (GRCm39) |
L225P |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,605,512 (GRCm39) |
|
probably null |
Het |
Lrp1b |
A |
G |
2: 41,339,206 (GRCm39) |
V765A |
probably benign |
Het |
Lsm5 |
A |
G |
6: 56,679,127 (GRCm39) |
I34T |
possibly damaging |
Het |
Ly6g6c |
T |
C |
17: 35,288,386 (GRCm39) |
L86P |
probably damaging |
Het |
Meak7 |
A |
T |
8: 120,495,029 (GRCm39) |
I243N |
possibly damaging |
Het |
Megf11 |
A |
G |
9: 64,451,923 (GRCm39) |
T116A |
probably damaging |
Het |
Megf6 |
T |
C |
4: 154,336,618 (GRCm39) |
C190R |
probably damaging |
Het |
Mroh9 |
A |
G |
1: 162,873,610 (GRCm39) |
V515A |
possibly damaging |
Het |
Mtbp |
C |
A |
15: 55,469,942 (GRCm39) |
|
probably null |
Het |
Myo9b |
T |
A |
8: 71,809,222 (GRCm39) |
F1810L |
probably damaging |
Het |
Nacad |
T |
G |
11: 6,549,400 (GRCm39) |
K180Q |
possibly damaging |
Het |
Ncf2 |
G |
A |
1: 152,711,791 (GRCm39) |
V502I |
probably benign |
Het |
Npsr1 |
T |
A |
9: 24,046,105 (GRCm39) |
C75S |
probably benign |
Het |
Oog3 |
T |
C |
4: 143,886,152 (GRCm39) |
T149A |
probably benign |
Het |
Pank1 |
T |
A |
19: 34,818,422 (GRCm39) |
Q39L |
probably benign |
Het |
Pdx1 |
T |
C |
5: 147,211,474 (GRCm39) |
S232P |
possibly damaging |
Het |
Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
Pirb |
A |
T |
7: 3,722,641 (GRCm39) |
V117E |
possibly damaging |
Het |
Ppl |
G |
A |
16: 4,907,008 (GRCm39) |
L1096F |
probably damaging |
Het |
Rev3l |
T |
A |
10: 39,706,917 (GRCm39) |
Y2223* |
probably null |
Het |
Slc17a3 |
A |
T |
13: 24,039,924 (GRCm39) |
I321F |
possibly damaging |
Het |
Sufu |
T |
A |
19: 46,438,317 (GRCm39) |
D168E |
probably damaging |
Het |
Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
Vmn1r237 |
T |
G |
17: 21,534,648 (GRCm39) |
S124A |
probably benign |
Het |
Vmn2r60 |
T |
A |
7: 41,844,310 (GRCm39) |
C558S |
probably damaging |
Het |
Vwa5b1 |
G |
A |
4: 138,319,414 (GRCm39) |
T414I |
probably benign |
Het |
Zbtb47 |
T |
C |
9: 121,595,595 (GRCm39) |
S573P |
probably damaging |
Het |
Zfp971 |
T |
G |
2: 177,675,674 (GRCm39) |
C424W |
possibly damaging |
Het |
|
Other mutations in Slc16a4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01065:Slc16a4
|
APN |
3 |
107,210,416 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL01311:Slc16a4
|
APN |
3 |
107,199,821 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL01509:Slc16a4
|
APN |
3 |
107,218,750 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL01780:Slc16a4
|
APN |
3 |
107,210,415 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02294:Slc16a4
|
APN |
3 |
107,208,384 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02350:Slc16a4
|
APN |
3 |
107,210,415 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02357:Slc16a4
|
APN |
3 |
107,210,415 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02792:Slc16a4
|
APN |
3 |
107,206,193 (GRCm39) |
missense |
probably benign |
|
IGL02873:Slc16a4
|
APN |
3 |
107,208,111 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03001:Slc16a4
|
APN |
3 |
107,218,858 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL03002:Slc16a4
|
APN |
3 |
107,208,102 (GRCm39) |
missense |
probably benign |
0.07 |
R0370:Slc16a4
|
UTSW |
3 |
107,208,413 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0525:Slc16a4
|
UTSW |
3 |
107,205,255 (GRCm39) |
splice site |
probably benign |
|
R1192:Slc16a4
|
UTSW |
3 |
107,206,189 (GRCm39) |
missense |
probably benign |
0.07 |
R1458:Slc16a4
|
UTSW |
3 |
107,208,248 (GRCm39) |
missense |
probably benign |
0.00 |
R1939:Slc16a4
|
UTSW |
3 |
107,208,317 (GRCm39) |
missense |
probably benign |
0.00 |
R2061:Slc16a4
|
UTSW |
3 |
107,208,027 (GRCm39) |
missense |
probably benign |
0.00 |
R2098:Slc16a4
|
UTSW |
3 |
107,208,163 (GRCm39) |
nonsense |
probably null |
|
R2102:Slc16a4
|
UTSW |
3 |
107,211,819 (GRCm39) |
splice site |
probably null |
|
R3411:Slc16a4
|
UTSW |
3 |
107,208,188 (GRCm39) |
missense |
probably benign |
|
R4983:Slc16a4
|
UTSW |
3 |
107,208,176 (GRCm39) |
missense |
probably benign |
0.00 |
R5394:Slc16a4
|
UTSW |
3 |
107,199,758 (GRCm39) |
missense |
probably benign |
|
R5804:Slc16a4
|
UTSW |
3 |
107,206,280 (GRCm39) |
missense |
probably benign |
0.04 |
R6077:Slc16a4
|
UTSW |
3 |
107,208,381 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6626:Slc16a4
|
UTSW |
3 |
107,208,512 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6693:Slc16a4
|
UTSW |
3 |
107,210,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R6823:Slc16a4
|
UTSW |
3 |
107,218,814 (GRCm39) |
missense |
probably benign |
0.02 |
R6982:Slc16a4
|
UTSW |
3 |
107,206,589 (GRCm39) |
missense |
probably benign |
0.01 |
R7050:Slc16a4
|
UTSW |
3 |
107,208,148 (GRCm39) |
missense |
probably benign |
|
R7103:Slc16a4
|
UTSW |
3 |
107,218,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R7608:Slc16a4
|
UTSW |
3 |
107,210,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R7623:Slc16a4
|
UTSW |
3 |
107,205,297 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8013:Slc16a4
|
UTSW |
3 |
107,218,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R8014:Slc16a4
|
UTSW |
3 |
107,218,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R8713:Slc16a4
|
UTSW |
3 |
107,218,901 (GRCm39) |
makesense |
probably null |
|
R8876:Slc16a4
|
UTSW |
3 |
107,208,101 (GRCm39) |
missense |
probably benign |
0.12 |
R9266:Slc16a4
|
UTSW |
3 |
107,199,788 (GRCm39) |
missense |
probably benign |
0.10 |
R9661:Slc16a4
|
UTSW |
3 |
107,213,359 (GRCm39) |
missense |
probably benign |
|
X0018:Slc16a4
|
UTSW |
3 |
107,208,131 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGGCCACTAGTACAAACATG -3'
(R):5'- CCACAGCAGCTACTTGGTAC -3'
Sequencing Primer
(F):5'- ATACCAATTGTCTTGCTTTCCTCTG -3'
(R):5'- GTGTGAACTCACCAGGTA -3'
|
Posted On |
2018-09-12 |