Incidental Mutation 'IGL00942:Slc16a14'
ID |
26670 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc16a14
|
Ensembl Gene |
ENSMUSG00000026220 |
Gene Name |
solute carrier family 16 (monocarboxylic acid transporters), member 14 |
Synonyms |
1110004H10Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
IGL00942
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
84883619-84912855 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 84900592 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 131
(T131I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027422
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027422]
|
AlphaFold |
Q8K1C7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027422
AA Change: T131I
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000027422 Gene: ENSMUSG00000026220 AA Change: T131I
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arap2 |
A |
C |
5: 62,855,732 (GRCm39) |
L568* |
probably null |
Het |
Arfgef2 |
G |
A |
2: 166,727,773 (GRCm39) |
V1574M |
probably damaging |
Het |
Arhgef12 |
C |
T |
9: 42,893,296 (GRCm39) |
R969H |
probably damaging |
Het |
Cacng1 |
A |
T |
11: 107,595,195 (GRCm39) |
F127L |
probably benign |
Het |
Cntnap5c |
T |
C |
17: 58,076,593 (GRCm39) |
V10A |
probably benign |
Het |
Crtac1 |
T |
G |
19: 42,312,233 (GRCm39) |
D160A |
probably damaging |
Het |
Csmd3 |
C |
T |
15: 47,710,502 (GRCm39) |
|
probably null |
Het |
Grin3a |
A |
G |
4: 49,770,589 (GRCm39) |
F728L |
probably damaging |
Het |
H3c1 |
T |
C |
13: 23,945,921 (GRCm39) |
|
probably benign |
Het |
Hecw1 |
C |
T |
13: 14,515,325 (GRCm39) |
|
probably benign |
Het |
Iyd |
C |
T |
10: 3,554,070 (GRCm38) |
C239F |
probably damaging |
Het |
Madd |
A |
G |
2: 91,000,923 (GRCm39) |
V486A |
probably damaging |
Het |
Map3k7 |
A |
G |
4: 32,019,539 (GRCm39) |
D533G |
probably damaging |
Het |
Matk |
A |
G |
10: 81,094,128 (GRCm39) |
D20G |
probably benign |
Het |
Mphosph10 |
A |
G |
7: 64,039,503 (GRCm39) |
S156P |
probably benign |
Het |
Mtif2 |
G |
A |
11: 29,488,753 (GRCm39) |
E356K |
probably damaging |
Het |
Ndufb10 |
T |
C |
17: 24,943,158 (GRCm39) |
|
probably null |
Het |
Nipal3 |
A |
T |
4: 135,195,904 (GRCm39) |
L233Q |
possibly damaging |
Het |
Or7e169 |
T |
C |
9: 19,757,555 (GRCm39) |
Y120C |
probably damaging |
Het |
Prss32 |
T |
A |
17: 24,078,134 (GRCm39) |
C273* |
probably null |
Het |
Prtg |
T |
C |
9: 72,799,622 (GRCm39) |
S807P |
possibly damaging |
Het |
Ric3 |
T |
G |
7: 108,653,619 (GRCm39) |
E157D |
probably damaging |
Het |
Ric3 |
T |
A |
7: 108,653,620 (GRCm39) |
E157V |
probably damaging |
Het |
Slc1a2 |
A |
T |
2: 102,570,159 (GRCm39) |
N137Y |
probably damaging |
Het |
Slc25a27 |
T |
C |
17: 43,974,980 (GRCm39) |
I94V |
probably benign |
Het |
Slco1a1 |
G |
A |
6: 141,892,354 (GRCm39) |
T4I |
probably benign |
Het |
Slf1 |
A |
T |
13: 77,192,066 (GRCm39) |
F923I |
possibly damaging |
Het |
Taf7l2 |
A |
G |
10: 115,949,341 (GRCm39) |
S62P |
possibly damaging |
Het |
Ttll12 |
A |
C |
15: 83,466,649 (GRCm39) |
V306G |
possibly damaging |
Het |
Tulp2 |
G |
A |
7: 45,165,692 (GRCm39) |
V97I |
possibly damaging |
Het |
Vmn2r65 |
T |
G |
7: 84,592,761 (GRCm39) |
Q482P |
probably damaging |
Het |
Wdr24 |
T |
A |
17: 26,045,595 (GRCm39) |
N443K |
probably benign |
Het |
|
Other mutations in Slc16a14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R5968:Slc16a14
|
UTSW |
1 |
84,890,226 (GRCm39) |
missense |
possibly damaging |
0.70 |
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 |
|
Posted On |
2013-04-17 |