Incidental Mutation 'R8555:Mfsd6l'
| ID |
660068 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd6l
|
| Ensembl Gene |
ENSMUSG00000048329 |
| Gene Name |
major facilitator superfamily domain containing 6-like |
| Synonyms |
|
| MMRRC Submission |
068518-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R8555 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
68447012-68449071 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 68447898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 250
(V250I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061601
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053211]
[ENSMUST00000060441]
[ENSMUST00000102613]
|
| AlphaFold |
Q8R3N2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053211
AA Change: V250I
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000061601
Gene: ENSMUSG00000048329
AA Change: V250I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1_like
|
28 |
88 |
1.6e-7 |
PFAM |
|
transmembrane domain
|
284 |
303 |
N/A |
INTRINSIC |
|
transmembrane domain
|
318 |
340 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
365 |
555 |
4e-11 |
PFAM |
|
low complexity region
|
557 |
571 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060441
|
| SMART Domains |
Protein: ENSMUSP00000052522
Gene: ENSMUSG00000046207
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PI3K_1B_p101
|
7 |
306 |
7.4e-28 |
PFAM |
|
low complexity region
|
310 |
324 |
N/A |
INTRINSIC |
|
Pfam:PI3K_1B_p101
|
394 |
755 |
1.2e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102613
|
| SMART Domains |
Protein: ENSMUSP00000099673
Gene: ENSMUSG00000046207
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PI3K_1B_p101
|
3 |
335 |
1.8e-111 |
PFAM |
|
Pfam:PI3K_1B_p101
|
332 |
752 |
1.6e-126 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405O20Rik |
C |
T |
7: 50,250,010 (GRCm39) |
A348V |
possibly damaging |
Het |
| Alk |
A |
T |
17: 72,228,869 (GRCm39) |
V732E |
probably damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,380,169 (GRCm39) |
S182P |
probably benign |
Het |
| Cyp2c70 |
T |
C |
19: 40,172,345 (GRCm39) |
D99G |
probably benign |
Het |
| Dnah8 |
G |
T |
17: 30,940,084 (GRCm39) |
E1677* |
probably null |
Het |
| Dop1b |
A |
G |
16: 93,568,698 (GRCm39) |
T797A |
probably damaging |
Het |
| Fam181b |
A |
T |
7: 92,729,296 (GRCm39) |
D23V |
probably damaging |
Het |
| Fbxo4 |
A |
T |
15: 3,995,273 (GRCm39) |
V357D |
probably damaging |
Het |
| Gm4924 |
T |
C |
10: 82,213,224 (GRCm39) |
|
probably benign |
Het |
| Grhl2 |
A |
G |
15: 37,233,507 (GRCm39) |
|
probably benign |
Het |
| Magee2 |
A |
T |
X: 103,900,087 (GRCm39) |
L188H |
probably damaging |
Het |
| Matn2 |
A |
G |
15: 34,423,951 (GRCm39) |
K603R |
probably benign |
Het |
| Mroh9 |
T |
C |
1: 162,899,595 (GRCm39) |
|
probably null |
Het |
| Ntsr1 |
A |
G |
2: 180,180,470 (GRCm39) |
I259V |
probably benign |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or14j3 |
A |
G |
17: 37,900,540 (GRCm39) |
S235P |
possibly damaging |
Het |
| Or6d14 |
G |
T |
6: 116,534,289 (GRCm39) |
R301L |
probably damaging |
Het |
| Pax2 |
T |
C |
19: 44,750,128 (GRCm39) |
Y72H |
probably damaging |
Het |
| Pcdh10 |
A |
T |
3: 45,334,030 (GRCm39) |
I115F |
probably benign |
Het |
| Pkp4 |
A |
T |
2: 59,138,379 (GRCm39) |
R210* |
probably null |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rpa2 |
A |
G |
4: 132,499,481 (GRCm39) |
|
probably null |
Het |
| Sec31a |
T |
C |
5: 100,540,273 (GRCm39) |
N471S |
probably benign |
Het |
| Serpinb9g |
A |
T |
13: 33,676,796 (GRCm39) |
T193S |
probably benign |
Het |
| Sh3pxd2b |
C |
T |
11: 32,361,469 (GRCm39) |
T227M |
probably benign |
Het |
| Speg |
A |
G |
1: 75,378,908 (GRCm39) |
|
probably null |
Het |
| Suz12 |
T |
C |
11: 79,922,817 (GRCm39) |
I653T |
probably damaging |
Het |
| Thsd7b |
C |
A |
1: 129,523,191 (GRCm39) |
T75K |
probably damaging |
Het |
| Trav5-1 |
A |
C |
14: 52,860,276 (GRCm39) |
Q27P |
probably damaging |
Het |
| Trim5 |
T |
C |
7: 103,927,330 (GRCm39) |
|
probably null |
Het |
| Vmn1r174 |
A |
T |
7: 23,453,970 (GRCm39) |
Y212F |
possibly damaging |
Het |
| Vmn2r110 |
G |
A |
17: 20,804,618 (GRCm39) |
P101S |
probably damaging |
Het |
| Vmn2r17 |
A |
G |
5: 109,600,810 (GRCm39) |
T703A |
probably damaging |
Het |
| Vmn2r84 |
A |
G |
10: 130,230,100 (GRCm39) |
M4T |
probably benign |
Het |
| Zfp709 |
A |
G |
8: 72,643,476 (GRCm39) |
T302A |
probably benign |
Het |
|
| Other mutations in Mfsd6l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00503:Mfsd6l
|
APN |
11 |
68,447,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02292:Mfsd6l
|
APN |
11 |
68,448,576 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0086:Mfsd6l
|
UTSW |
11 |
68,447,391 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0180:Mfsd6l
|
UTSW |
11 |
68,447,371 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1547:Mfsd6l
|
UTSW |
11 |
68,447,434 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4831:Mfsd6l
|
UTSW |
11 |
68,447,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4881:Mfsd6l
|
UTSW |
11 |
68,448,748 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5237:Mfsd6l
|
UTSW |
11 |
68,448,096 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5244:Mfsd6l
|
UTSW |
11 |
68,448,001 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5867:Mfsd6l
|
UTSW |
11 |
68,448,036 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5961:Mfsd6l
|
UTSW |
11 |
68,447,368 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7337:Mfsd6l
|
UTSW |
11 |
68,448,109 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7343:Mfsd6l
|
UTSW |
11 |
68,447,874 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7526:Mfsd6l
|
UTSW |
11 |
68,448,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7686:Mfsd6l
|
UTSW |
11 |
68,448,052 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7715:Mfsd6l
|
UTSW |
11 |
68,448,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9015:Mfsd6l
|
UTSW |
11 |
68,447,536 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Mfsd6l
|
UTSW |
11 |
68,448,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mfsd6l
|
UTSW |
11 |
68,447,808 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCACTTCTGGGTTGAGAGATAATTC -3'
(R):5'- TAAATCACGCCCTGAGGACC -3'
Sequencing Primer
(F):5'- TGGGTTGAGAGATAATTCCCAGAAAG -3'
(R):5'- TGAGGACCATTGGCCACGAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation