Incidental Mutation 'R4637:Slc16a14'
| ID |
350749 |
| 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 |
042010-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R4637 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
84883619-84912855 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84885003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 512
(V512A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027422]
|
| AlphaFold |
Q8K1C7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027422
AA Change: V512A
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000027422
Gene: ENSMUSG00000026220
AA Change: V512A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
42 |
427 |
6.7e-42 |
PFAM |
|
Pfam:MFS_1
|
419 |
509 |
7.9e-10 |
PFAM |
|
| Meta Mutation Damage Score |
0.0889 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
96% (27/28) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Art1 |
T |
A |
7: 101,755,544 (GRCm39) |
V12E |
probably damaging |
Het |
| Ccdc121 |
G |
A |
5: 31,645,435 (GRCm39) |
R396Q |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,914,443 (GRCm39) |
S653G |
probably benign |
Het |
| Clic6 |
T |
C |
16: 92,293,949 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,925,947 (GRCm39) |
L3717Q |
probably damaging |
Het |
| Gpat3 |
C |
T |
5: 101,005,039 (GRCm39) |
P58L |
probably benign |
Het |
| Gtf2f1 |
G |
T |
17: 57,311,534 (GRCm39) |
P292H |
probably benign |
Het |
| Hcn1 |
A |
T |
13: 118,112,249 (GRCm39) |
T738S |
unknown |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hmbs |
A |
G |
9: 44,250,834 (GRCm39) |
S130P |
probably damaging |
Het |
| Kif1b |
A |
T |
4: 149,283,768 (GRCm39) |
I1299N |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Muc17 |
A |
T |
5: 137,175,502 (GRCm39) |
L56Q |
probably damaging |
Het |
| Myd88 |
G |
A |
9: 119,167,175 (GRCm39) |
|
probably null |
Het |
| Nol6 |
G |
A |
4: 41,121,788 (GRCm39) |
R249W |
probably damaging |
Het |
| Or4g17 |
C |
T |
2: 111,209,927 (GRCm39) |
T194I |
probably benign |
Het |
| Pcdhb1 |
T |
C |
18: 37,398,802 (GRCm39) |
V251A |
possibly damaging |
Het |
| Prkcd |
A |
G |
14: 30,320,722 (GRCm39) |
S633P |
probably benign |
Het |
| Rarb |
T |
C |
14: 16,574,875 (GRCm38) |
H47R |
possibly damaging |
Het |
| Slc34a3 |
C |
T |
2: 25,119,473 (GRCm39) |
V466M |
possibly damaging |
Het |
| Stat3 |
A |
G |
11: 100,784,056 (GRCm39) |
S623P |
probably damaging |
Het |
| Vmn2r16 |
T |
G |
5: 109,478,280 (GRCm39) |
S12A |
probably benign |
Het |
| Zfhx4 |
C |
G |
3: 5,468,464 (GRCm39) |
P2874R |
probably damaging |
Het |
| Zfp3 |
T |
C |
11: 70,662,181 (GRCm39) |
S47P |
probably benign |
Het |
| Zfp791 |
T |
C |
8: 85,836,514 (GRCm39) |
E450G |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTTCTAATCACGTCTGCCAC -3'
(R):5'- ATCAACTCTGGGTTCCACCG -3'
Sequencing Primer
(F):5'- TCTGCCACCTCTGCAGAGAG -3'
(R):5'- GTAGGGATACTCTTTTTGCTC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation