Incidental Mutation 'R6693:Slc16a4'
ID |
528160 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc16a4
|
Ensembl Gene |
ENSMUSG00000027896 |
Gene Name |
solute carrier family 16 (monocarboxylic acid transporters), member 4 |
Synonyms |
|
MMRRC Submission |
044811-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6693 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
107198546-107219431 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 107210380 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 350
(I350T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102334
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029502]
[ENSMUST00000106723]
|
AlphaFold |
Q8R0M8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029502
AA Change: I350T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000029502 Gene: ENSMUSG00000027896 AA Change: I350T
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 damaging
Transcript: ENSMUST00000106723
AA Change: I350T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000102334 Gene: ENSMUSG00000027896 AA Change: I350T
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
27 |
375 |
2.1e-28 |
PFAM |
Pfam:MFS_1
|
327 |
462 |
3.6e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153322
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
C |
3: 137,774,915 (GRCm39) |
V1368A |
probably benign |
Het |
Aak1 |
C |
T |
6: 86,942,497 (GRCm39) |
S680L |
unknown |
Het |
Adam25 |
A |
T |
8: 41,207,568 (GRCm39) |
N278I |
probably damaging |
Het |
Adamtsl1 |
C |
A |
4: 86,261,123 (GRCm39) |
H1111Q |
probably benign |
Het |
Adgrg7 |
T |
A |
16: 56,590,587 (GRCm39) |
N195Y |
probably damaging |
Het |
Arhgap23 |
A |
G |
11: 97,357,343 (GRCm39) |
N436S |
probably damaging |
Het |
Cfap65 |
T |
C |
1: 74,956,445 (GRCm39) |
I1045V |
probably benign |
Het |
Chrm3 |
T |
C |
13: 9,927,458 (GRCm39) |
N526S |
probably benign |
Het |
Cpeb2 |
A |
T |
5: 43,443,255 (GRCm39) |
D982V |
probably damaging |
Het |
Fbxw27 |
T |
C |
9: 109,617,112 (GRCm39) |
I130V |
probably benign |
Het |
Glb1l |
T |
C |
1: 75,185,745 (GRCm39) |
D61G |
probably damaging |
Het |
Herc1 |
G |
A |
9: 66,386,258 (GRCm39) |
C3737Y |
probably damaging |
Het |
Kcnt2 |
A |
T |
1: 140,278,965 (GRCm39) |
M39L |
probably benign |
Het |
Kif17 |
C |
A |
4: 138,013,791 (GRCm39) |
Q236K |
probably benign |
Het |
Klhl25 |
T |
C |
7: 75,516,561 (GRCm39) |
V184A |
possibly damaging |
Het |
Lmf1 |
A |
T |
17: 25,864,252 (GRCm39) |
M287L |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,367,601 (GRCm39) |
T822A |
possibly damaging |
Het |
Mmp13 |
A |
T |
9: 7,280,245 (GRCm39) |
T392S |
probably benign |
Het |
Myo6 |
T |
A |
9: 80,153,013 (GRCm39) |
N215K |
probably damaging |
Het |
Nedd1 |
T |
C |
10: 92,534,199 (GRCm39) |
K317R |
possibly damaging |
Het |
Or8g17 |
C |
T |
9: 38,930,097 (GRCm39) |
A247T |
probably damaging |
Het |
Or9m1 |
A |
G |
2: 87,733,652 (GRCm39) |
Y123H |
probably damaging |
Het |
Pax9 |
T |
A |
12: 56,756,516 (GRCm39) |
S285T |
probably benign |
Het |
Pcdhb15 |
A |
T |
18: 37,607,394 (GRCm39) |
T209S |
probably benign |
Het |
Pdpk1 |
A |
T |
17: 24,330,100 (GRCm39) |
|
probably null |
Het |
Rbak |
T |
C |
5: 143,159,866 (GRCm39) |
K396E |
probably damaging |
Het |
Rps6ka5 |
A |
G |
12: 100,540,088 (GRCm39) |
V545A |
probably benign |
Het |
Scg2 |
G |
T |
1: 79,413,737 (GRCm39) |
Q329K |
probably benign |
Het |
Shroom3 |
G |
A |
5: 93,088,617 (GRCm39) |
A456T |
possibly damaging |
Het |
Slc12a7 |
G |
T |
13: 73,945,656 (GRCm39) |
A489S |
probably benign |
Het |
Slc25a45 |
T |
C |
19: 5,930,162 (GRCm39) |
V44A |
possibly damaging |
Het |
Sucla2 |
T |
A |
14: 73,806,107 (GRCm39) |
L102* |
probably null |
Het |
Tgif1 |
T |
A |
17: 71,157,885 (GRCm39) |
|
probably benign |
Het |
Tmem8b |
A |
G |
4: 43,669,837 (GRCm39) |
E111G |
probably benign |
Het |
Zfp971 |
G |
T |
2: 177,675,224 (GRCm39) |
K274N |
probably benign |
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 |
R6811:Slc16a4
|
UTSW |
3 |
107,206,233 (GRCm39) |
missense |
probably benign |
0.06 |
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'- TGGTTTCATATTCAGCTGGAAGC -3'
(R):5'- CAGTATTAGTGCCAGGTAGCC -3'
Sequencing Primer
(F):5'- GCAGCATCCTGGTATTTTACTAG -3'
(R):5'- CACCAGCAAAAATGGCAAAAAGGATG -3'
|
Posted On |
2018-07-24 |