Incidental Mutation 'R9783:Mfsd14b'
ID |
734177 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mfsd14b
|
Ensembl Gene |
ENSMUSG00000038212 |
Gene Name |
major facilitator superfamily domain containing 14B |
Synonyms |
5730414C17Rik, Hiatl1 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.190)
|
Stock # |
R9783 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
65212844-65260813 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 65221414 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 293
(V293L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118180
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054730]
[ENSMUST00000155487]
|
AlphaFold |
Q8CIA9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000054730
AA Change: V293L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000062566 Gene: ENSMUSG00000038212 AA Change: V293L
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
50 |
396 |
4.5e-33 |
PFAM |
transmembrane domain
|
428 |
450 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155487
AA Change: V293L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000118180 Gene: ENSMUSG00000038212 AA Change: V293L
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
50 |
396 |
4.6e-33 |
PFAM |
transmembrane domain
|
428 |
450 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cdkn2aip |
A |
G |
8: 48,164,090 (GRCm39) |
V541A |
possibly damaging |
Het |
Cep170b |
C |
A |
12: 112,711,118 (GRCm39) |
D1499E |
probably damaging |
Het |
Cers2 |
T |
C |
3: 95,229,438 (GRCm39) |
S248P |
probably benign |
Het |
Chd5 |
T |
A |
4: 152,458,865 (GRCm39) |
I1076N |
probably damaging |
Het |
Col6a2 |
T |
C |
10: 76,440,720 (GRCm39) |
|
probably null |
Het |
D6Ertd527e |
G |
A |
6: 87,088,602 (GRCm39) |
G255D |
unknown |
Het |
Dennd5b |
T |
C |
6: 148,911,342 (GRCm39) |
T954A |
probably damaging |
Het |
Dmc1 |
A |
G |
15: 79,484,296 (GRCm39) |
L65P |
probably damaging |
Het |
Dock2 |
A |
G |
11: 34,208,128 (GRCm39) |
Y1307H |
possibly damaging |
Het |
Gckr |
G |
A |
5: 31,466,399 (GRCm39) |
S458N |
probably benign |
Het |
Gpx4 |
T |
C |
10: 79,890,851 (GRCm39) |
V181A |
possibly damaging |
Het |
Hmcn1 |
C |
T |
1: 150,598,380 (GRCm39) |
E1641K |
probably benign |
Het |
Htr7 |
A |
G |
19: 35,946,787 (GRCm39) |
I409T |
probably damaging |
Het |
Ighv8-9 |
C |
T |
12: 115,431,994 (GRCm39) |
V106M |
probably benign |
Het |
Kri1 |
T |
C |
9: 21,190,709 (GRCm39) |
E384G |
|
Het |
Lyz3 |
T |
C |
10: 117,073,653 (GRCm39) |
N60S |
possibly damaging |
Het |
Mfhas1 |
T |
C |
8: 36,057,934 (GRCm39) |
L803P |
probably damaging |
Het |
Noxa1 |
C |
A |
2: 24,985,053 (GRCm39) |
|
probably benign |
Het |
Or1j16 |
A |
G |
2: 36,530,161 (GRCm39) |
T37A |
probably benign |
Het |
Or5d38 |
A |
T |
2: 87,954,610 (GRCm39) |
F240I |
probably benign |
Het |
Otof |
T |
C |
5: 30,536,576 (GRCm39) |
K1302E |
probably benign |
Het |
Pdcl |
A |
G |
2: 37,242,174 (GRCm39) |
V192A |
probably benign |
Het |
Plxdc2 |
C |
T |
2: 16,674,349 (GRCm39) |
Q310* |
probably null |
Het |
Pola2 |
C |
T |
19: 5,990,904 (GRCm39) |
V597M |
probably damaging |
Het |
Prkcd |
T |
A |
14: 30,321,444 (GRCm39) |
Y549F |
probably damaging |
Het |
Rho |
T |
C |
6: 115,910,920 (GRCm39) |
M155T |
probably benign |
Het |
Scap |
C |
T |
9: 110,202,132 (GRCm39) |
H167Y |
probably benign |
Het |
Sfn |
T |
C |
4: 133,329,128 (GRCm39) |
|
probably benign |
Het |
Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
Slc13a2 |
T |
A |
11: 78,294,177 (GRCm39) |
T235S |
probably damaging |
Het |
Slc40a1 |
A |
G |
1: 45,951,513 (GRCm39) |
S215P |
probably damaging |
Het |
Spam1 |
G |
A |
6: 24,796,226 (GRCm39) |
R59H |
probably benign |
Het |
Tmeff1 |
T |
C |
4: 48,662,005 (GRCm39) |
C347R |
probably damaging |
Het |
Tmprss15 |
T |
C |
16: 78,887,890 (GRCm39) |
|
probably benign |
Het |
Ugt2b37 |
G |
T |
5: 87,388,840 (GRCm39) |
L458M |
probably damaging |
Het |
Unc13c |
T |
A |
9: 73,392,227 (GRCm39) |
I2042F |
probably benign |
Het |
Zfp12 |
C |
A |
5: 143,230,513 (GRCm39) |
T312K |
probably damaging |
Het |
|
Other mutations in Mfsd14b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00697:Mfsd14b
|
APN |
13 |
65,214,515 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01935:Mfsd14b
|
APN |
13 |
65,215,739 (GRCm39) |
missense |
probably benign |
|
IGL01957:Mfsd14b
|
APN |
13 |
65,234,907 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0555:Mfsd14b
|
UTSW |
13 |
65,226,259 (GRCm39) |
missense |
probably benign |
0.34 |
R0601:Mfsd14b
|
UTSW |
13 |
65,234,964 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0988:Mfsd14b
|
UTSW |
13 |
65,260,307 (GRCm39) |
splice site |
probably benign |
|
R1136:Mfsd14b
|
UTSW |
13 |
65,243,506 (GRCm39) |
missense |
probably benign |
0.22 |
R1494:Mfsd14b
|
UTSW |
13 |
65,243,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R2087:Mfsd14b
|
UTSW |
13 |
65,215,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R4223:Mfsd14b
|
UTSW |
13 |
65,214,422 (GRCm39) |
utr 3 prime |
probably benign |
|
R5103:Mfsd14b
|
UTSW |
13 |
65,234,907 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5568:Mfsd14b
|
UTSW |
13 |
65,219,936 (GRCm39) |
splice site |
probably null |
|
R5603:Mfsd14b
|
UTSW |
13 |
65,221,420 (GRCm39) |
missense |
probably benign |
0.00 |
R6181:Mfsd14b
|
UTSW |
13 |
65,260,398 (GRCm39) |
missense |
probably benign |
0.00 |
R6330:Mfsd14b
|
UTSW |
13 |
65,243,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R6649:Mfsd14b
|
UTSW |
13 |
65,214,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R7460:Mfsd14b
|
UTSW |
13 |
65,219,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R7605:Mfsd14b
|
UTSW |
13 |
65,214,591 (GRCm39) |
missense |
probably benign |
|
R9034:Mfsd14b
|
UTSW |
13 |
65,223,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R9268:Mfsd14b
|
UTSW |
13 |
65,222,855 (GRCm39) |
missense |
probably damaging |
1.00 |
R9545:Mfsd14b
|
UTSW |
13 |
65,221,414 (GRCm39) |
missense |
probably benign |
0.00 |
R9597:Mfsd14b
|
UTSW |
13 |
65,221,414 (GRCm39) |
missense |
probably benign |
0.00 |
R9598:Mfsd14b
|
UTSW |
13 |
65,221,414 (GRCm39) |
missense |
probably benign |
0.00 |
R9598:Mfsd14b
|
UTSW |
13 |
65,214,522 (GRCm39) |
missense |
probably benign |
0.00 |
R9633:Mfsd14b
|
UTSW |
13 |
65,221,414 (GRCm39) |
missense |
probably benign |
0.00 |
R9672:Mfsd14b
|
UTSW |
13 |
65,260,320 (GRCm39) |
missense |
probably benign |
0.00 |
R9696:Mfsd14b
|
UTSW |
13 |
65,221,414 (GRCm39) |
missense |
probably benign |
0.00 |
R9698:Mfsd14b
|
UTSW |
13 |
65,221,414 (GRCm39) |
missense |
probably benign |
0.00 |
R9702:Mfsd14b
|
UTSW |
13 |
65,221,414 (GRCm39) |
missense |
probably benign |
0.00 |
R9755:Mfsd14b
|
UTSW |
13 |
65,221,414 (GRCm39) |
missense |
probably benign |
0.00 |
R9756:Mfsd14b
|
UTSW |
13 |
65,221,414 (GRCm39) |
missense |
probably benign |
0.00 |
R9801:Mfsd14b
|
UTSW |
13 |
65,221,414 (GRCm39) |
missense |
probably benign |
0.00 |
R9802:Mfsd14b
|
UTSW |
13 |
65,221,414 (GRCm39) |
missense |
probably benign |
0.00 |
R9803:Mfsd14b
|
UTSW |
13 |
65,221,414 (GRCm39) |
missense |
probably benign |
0.00 |
X0017:Mfsd14b
|
UTSW |
13 |
65,219,867 (GRCm39) |
missense |
probably benign |
0.08 |
X0027:Mfsd14b
|
UTSW |
13 |
65,219,825 (GRCm39) |
missense |
probably benign |
0.16 |
X0063:Mfsd14b
|
UTSW |
13 |
65,226,299 (GRCm39) |
splice site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAGCTGAGGCAACAGTTTGG -3'
(R):5'- TCATTGTCTCCAAACTGACATAGAC -3'
Sequencing Primer
(F):5'- CTGAGGCAACAGTTTGGAGGAAC -3'
(R):5'- CACAATTCATGCCTACTAATTACAAC -3'
|
Posted On |
2022-11-14 |