Incidental Mutation 'R5968:Slc16a14'
ID |
470683 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc16a14
|
Ensembl Gene |
ENSMUSG00000026220 |
Gene Name |
solute carrier family 16 (monocarboxylic acid transporters), member 14 |
Synonyms |
1110004H10Rik |
MMRRC Submission |
043249-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R5968 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
84883619-84912855 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 84890226 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 360
(I360V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027422
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027422]
|
AlphaFold |
Q8K1C7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027422
AA Change: I360V
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000027422 Gene: ENSMUSG00000026220 AA Change: I360V
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
42 |
427 |
6.7e-42 |
PFAM |
Pfam:MFS_1
|
419 |
509 |
7.9e-10 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
T |
C |
17: 46,621,077 (GRCm39) |
T978A |
probably benign |
Het |
Adcy9 |
A |
G |
16: 4,116,606 (GRCm39) |
L638P |
probably damaging |
Het |
Adgrf2 |
A |
G |
17: 43,026,063 (GRCm39) |
|
probably null |
Het |
Anxa6 |
T |
C |
11: 54,885,167 (GRCm39) |
I461V |
probably damaging |
Het |
Arap1 |
T |
C |
7: 101,043,945 (GRCm39) |
L668P |
probably damaging |
Het |
Ces2e |
G |
T |
8: 105,659,627 (GRCm39) |
G498W |
probably damaging |
Het |
Crb1 |
A |
G |
1: 139,170,739 (GRCm39) |
C823R |
probably damaging |
Het |
Ehmt1 |
C |
T |
2: 24,726,469 (GRCm39) |
R772H |
probably damaging |
Het |
Enpep |
A |
G |
3: 129,074,587 (GRCm39) |
L721S |
probably benign |
Het |
Flii |
T |
G |
11: 60,611,038 (GRCm39) |
I464L |
probably benign |
Het |
Gm57858 |
T |
C |
3: 36,064,840 (GRCm39) |
Q511R |
probably benign |
Het |
Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
Ift172 |
T |
C |
5: 31,418,828 (GRCm39) |
E1162G |
probably damaging |
Het |
Meioc |
A |
G |
11: 102,566,657 (GRCm39) |
S758G |
probably damaging |
Het |
Ndst1 |
A |
C |
18: 60,846,148 (GRCm39) |
S54A |
probably benign |
Het |
Ndufaf8 |
G |
T |
11: 119,990,055 (GRCm39) |
E56* |
probably null |
Het |
Ndufb7 |
A |
G |
8: 84,293,530 (GRCm39) |
D28G |
probably benign |
Het |
Or1e16 |
T |
C |
11: 73,286,018 (GRCm39) |
M277V |
possibly damaging |
Het |
Or2a25 |
A |
G |
6: 42,888,480 (GRCm39) |
I8V |
probably benign |
Het |
Prkg1 |
A |
T |
19: 30,570,324 (GRCm39) |
F443I |
probably damaging |
Het |
Pspc1 |
C |
T |
14: 57,001,693 (GRCm39) |
R227H |
probably benign |
Het |
Ptpn21 |
A |
G |
12: 98,677,149 (GRCm39) |
Y120H |
probably damaging |
Het |
Runx1t1 |
A |
T |
4: 13,841,890 (GRCm39) |
|
probably null |
Het |
Ryr3 |
T |
C |
2: 112,477,394 (GRCm39) |
D4449G |
probably benign |
Het |
Sacs |
C |
A |
14: 61,427,078 (GRCm39) |
A159E |
probably damaging |
Het |
Tcstv5 |
T |
C |
13: 120,411,618 (GRCm39) |
|
probably benign |
Het |
Thop1 |
A |
G |
10: 80,911,393 (GRCm39) |
D93G |
probably benign |
Het |
Tmem92 |
A |
C |
11: 94,669,564 (GRCm39) |
M85R |
probably benign |
Het |
Ttn |
T |
C |
2: 76,688,017 (GRCm39) |
|
probably benign |
Het |
Zdhhc5 |
T |
C |
2: 84,524,719 (GRCm39) |
|
probably null |
Het |
Zfp335 |
T |
C |
2: 164,734,314 (GRCm39) |
H1291R |
probably damaging |
Het |
Zfp957 |
C |
T |
14: 79,451,496 (GRCm39) |
C101Y |
probably damaging |
Het |
|
Other mutations in Slc16a14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00942:Slc16a14
|
APN |
1 |
84,900,592 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01563:Slc16a14
|
APN |
1 |
84,889,908 (GRCm39) |
splice site |
probably benign |
|
R0315:Slc16a14
|
UTSW |
1 |
84,890,217 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0380:Slc16a14
|
UTSW |
1 |
84,907,251 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1469:Slc16a14
|
UTSW |
1 |
84,907,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R1469:Slc16a14
|
UTSW |
1 |
84,907,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R1837:Slc16a14
|
UTSW |
1 |
84,890,120 (GRCm39) |
missense |
probably benign |
0.02 |
R2149:Slc16a14
|
UTSW |
1 |
84,885,120 (GRCm39) |
missense |
probably damaging |
1.00 |
R2293:Slc16a14
|
UTSW |
1 |
84,890,564 (GRCm39) |
missense |
probably benign |
|
R3790:Slc16a14
|
UTSW |
1 |
84,907,001 (GRCm39) |
unclassified |
probably benign |
|
R4016:Slc16a14
|
UTSW |
1 |
84,890,228 (GRCm39) |
nonsense |
probably null |
|
R4596:Slc16a14
|
UTSW |
1 |
84,907,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R4637:Slc16a14
|
UTSW |
1 |
84,885,003 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4723:Slc16a14
|
UTSW |
1 |
84,890,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R5137:Slc16a14
|
UTSW |
1 |
84,890,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R5262:Slc16a14
|
UTSW |
1 |
84,890,612 (GRCm39) |
missense |
probably benign |
0.00 |
R5410:Slc16a14
|
UTSW |
1 |
84,885,145 (GRCm39) |
missense |
probably damaging |
0.98 |
R5927:Slc16a14
|
UTSW |
1 |
84,889,988 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6052:Slc16a14
|
UTSW |
1 |
84,890,430 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6264:Slc16a14
|
UTSW |
1 |
84,885,130 (GRCm39) |
missense |
probably benign |
0.30 |
R6290:Slc16a14
|
UTSW |
1 |
84,885,106 (GRCm39) |
missense |
probably benign |
0.10 |
R7383:Slc16a14
|
UTSW |
1 |
84,890,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R7390:Slc16a14
|
UTSW |
1 |
84,907,187 (GRCm39) |
missense |
probably benign |
0.25 |
R7535:Slc16a14
|
UTSW |
1 |
84,890,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R8326:Slc16a14
|
UTSW |
1 |
84,890,066 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8669:Slc16a14
|
UTSW |
1 |
84,900,605 (GRCm39) |
missense |
probably benign |
0.00 |
R8784:Slc16a14
|
UTSW |
1 |
84,890,784 (GRCm39) |
missense |
probably benign |
0.01 |
R9409:Slc16a14
|
UTSW |
1 |
84,907,116 (GRCm39) |
nonsense |
probably null |
|
R9469:Slc16a14
|
UTSW |
1 |
84,900,612 (GRCm39) |
missense |
probably benign |
0.05 |
|
Predicted Primers |
PCR Primer
(F):5'- AATTAGGGCACAAATGACAGCC -3'
(R):5'- GTTCTGAAGACAGTGAGCCAG -3'
Sequencing Primer
(F):5'- ATGACAGCCAGACTCGCGTAG -3'
(R):5'- AGCTCACTGTGCAAGTCC -3'
|
Posted On |
2017-03-31 |