Incidental Mutation 'R5804:Slc16a4'
ID |
448393 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc16a4
|
Ensembl Gene |
ENSMUSG00000027896 |
Gene Name |
solute carrier family 16 (monocarboxylic acid transporters), member 4 |
Synonyms |
|
MMRRC Submission |
043211-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5804 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
107198546-107219431 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 107206280 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 117
(M117L)
|
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: M117L
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000029502 Gene: ENSMUSG00000027896 AA Change: M117L
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: M117L
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000102334 Gene: ENSMUSG00000027896 AA Change: M117L
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: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abat |
A |
T |
16: 8,396,100 (GRCm39) |
R19* |
probably null |
Het |
Abcb9 |
A |
G |
5: 124,218,118 (GRCm39) |
M406T |
probably benign |
Het |
Ager |
A |
G |
17: 34,817,157 (GRCm39) |
E32G |
probably damaging |
Het |
Cdk10 |
T |
A |
8: 123,955,579 (GRCm39) |
|
probably null |
Het |
Cfap97d1 |
A |
G |
11: 101,881,640 (GRCm39) |
N112S |
probably damaging |
Het |
Ctsl |
A |
T |
13: 64,514,302 (GRCm39) |
Y259N |
probably damaging |
Het |
Ctu2 |
T |
C |
8: 123,207,965 (GRCm39) |
|
probably null |
Het |
Dse |
T |
A |
10: 34,029,375 (GRCm39) |
I572F |
possibly damaging |
Het |
Flt1 |
A |
T |
5: 147,517,247 (GRCm39) |
|
probably null |
Het |
Gatm |
T |
A |
2: 122,433,083 (GRCm39) |
Y193F |
probably benign |
Het |
Gpaa1 |
T |
C |
15: 76,216,826 (GRCm39) |
F170S |
probably damaging |
Het |
Grm3 |
A |
G |
5: 9,620,155 (GRCm39) |
L363P |
probably benign |
Het |
Heatr5b |
G |
A |
17: 79,138,951 (GRCm39) |
P64S |
probably damaging |
Het |
Hfm1 |
A |
G |
5: 107,026,455 (GRCm39) |
|
probably null |
Het |
Hivep2 |
A |
C |
10: 14,009,519 (GRCm39) |
K1725N |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,550,098 (GRCm39) |
C2695* |
probably null |
Het |
Hmgcr |
G |
A |
13: 96,802,695 (GRCm39) |
T68M |
probably damaging |
Het |
Igsf21 |
A |
T |
4: 139,755,385 (GRCm39) |
D423E |
possibly damaging |
Het |
Jag1 |
T |
C |
2: 136,930,124 (GRCm39) |
N751S |
probably benign |
Het |
Klrc2 |
A |
T |
6: 129,637,436 (GRCm39) |
N28K |
possibly damaging |
Het |
Lrrc8c |
A |
T |
5: 105,727,423 (GRCm39) |
D29V |
possibly damaging |
Het |
Mtcl1 |
A |
C |
17: 66,650,132 (GRCm39) |
S1329A |
probably benign |
Het |
Nin |
C |
T |
12: 70,092,375 (GRCm39) |
V645I |
possibly damaging |
Het |
Or4c127 |
T |
C |
2: 89,833,332 (GRCm39) |
I194T |
possibly damaging |
Het |
Or51i1 |
T |
C |
7: 103,671,439 (GRCm39) |
I29V |
probably benign |
Het |
Or8s2 |
T |
A |
15: 98,276,215 (GRCm39) |
M259L |
probably benign |
Het |
Or9g4 |
T |
A |
2: 85,504,682 (GRCm39) |
D271V |
probably damaging |
Het |
Pfpl |
A |
T |
19: 12,407,027 (GRCm39) |
H426L |
probably benign |
Het |
Poteg |
A |
G |
8: 27,946,826 (GRCm39) |
D238G |
probably damaging |
Het |
Psen1 |
T |
C |
12: 83,778,474 (GRCm39) |
F386L |
probably damaging |
Het |
Rassf9 |
A |
T |
10: 102,380,905 (GRCm39) |
I96F |
probably damaging |
Het |
Robo1 |
T |
C |
16: 72,840,077 (GRCm39) |
|
probably null |
Het |
Slc4a8 |
A |
G |
15: 100,689,506 (GRCm39) |
N372S |
possibly damaging |
Het |
Stmn4 |
G |
A |
14: 66,593,748 (GRCm39) |
G47D |
probably benign |
Het |
Tex26 |
A |
G |
5: 149,386,612 (GRCm39) |
N137S |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,747,163 (GRCm39) |
I4629F |
probably benign |
Het |
Ubash3a |
G |
A |
17: 31,427,206 (GRCm39) |
|
probably null |
Het |
Ube3d |
T |
C |
9: 86,307,401 (GRCm39) |
I233V |
probably benign |
Het |
Utrn |
T |
A |
10: 12,297,369 (GRCm39) |
T680S |
probably damaging |
Het |
Vps13d |
G |
A |
4: 144,826,640 (GRCm39) |
T2846I |
probably benign |
Het |
Zbtb22 |
TGGACCCGGGAC |
TGGACCCGGGACCCGGGAC |
17: 34,137,593 (GRCm39) |
|
probably null |
Het |
Zfp41 |
C |
T |
15: 75,490,557 (GRCm39) |
P170S |
probably 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 |
|
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 |
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'- AGGGATGTCTGAGGATATTAACTTAGC -3'
(R):5'- GCAATTGCTGTAGAAAGGCCC -3'
Sequencing Primer
(F):5'- GAGGATATTAACTTAGCACTTTCCC -3'
(R):5'- CAGGACAGTTTCCTGTTAC -3'
|
Posted On |
2016-12-15 |