Incidental Mutation 'R6445:Mfsd8'
| ID |
519155 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd8
|
| Ensembl Gene |
ENSMUSG00000025759 |
| Gene Name |
major facilitator superfamily domain containing 8 |
| Synonyms |
Cln7, 2810423E13Rik |
| MMRRC Submission |
044388-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6445 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
40772538-40801321 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40791553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 54
(I54V)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026859]
[ENSMUST00000204017]
[ENSMUST00000204054]
[ENSMUST00000204907]
|
| AlphaFold |
Q8BH31 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026859
AA Change: I58V
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000026859
Gene: ENSMUSG00000025759
AA Change: I58V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
31 |
235 |
3.6e-13 |
PFAM |
|
Pfam:MFS_1
|
43 |
387 |
4.2e-31 |
PFAM |
|
transmembrane domain
|
417 |
439 |
N/A |
INTRINSIC |
|
transmembrane domain
|
452 |
474 |
N/A |
INTRINSIC |
|
transmembrane domain
|
484 |
503 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000204017
AA Change: D27G
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204054
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204399
AA Change: I54V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204907
AA Change: I12V
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000144842
Gene: ENSMUSG00000025759
AA Change: I12V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
1 |
187 |
2e-21 |
PFAM |
|
Pfam:Sugar_tr
|
7 |
186 |
3.8e-12 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 93.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamily (MFS) domain. Other members of the major facilitator superfamily transport small solutes through chemiosmotic ion gradients. The substrate transported by this protein is unknown. The protein likely localizes to lysosomal membranes. Mutations in this gene are correlated with a variant form of late infantile-onset neuronal ceroid lipofuscinoses (vLINCL). [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit accumulation of autofluorescent material in the brain and peripheral tissues, retinal photoreceptor degeneration, presence of dense lamellar bodies in neurons, and a late-onset reactive gliosis and subtle astrogliosis in the brain. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC061237 |
C |
A |
14: 44,738,731 (GRCm39) |
D43E |
probably benign |
Het |
| Cdh22 |
T |
C |
2: 165,012,612 (GRCm39) |
I158V |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,052,860 (GRCm39) |
I1676V |
probably benign |
Het |
| Crem |
T |
C |
18: 3,309,671 (GRCm39) |
Y18C |
probably benign |
Het |
| Cyp2b9 |
A |
G |
7: 25,886,412 (GRCm39) |
I146V |
probably benign |
Het |
| Efcab14 |
C |
A |
4: 115,613,668 (GRCm39) |
H205Q |
possibly damaging |
Het |
| Efcab6 |
T |
C |
15: 83,752,558 (GRCm39) |
Y1437C |
probably damaging |
Het |
| Gm3055 |
T |
A |
10: 81,945,506 (GRCm39) |
N375K |
possibly damaging |
Het |
| Gm36864 |
A |
T |
7: 43,886,842 (GRCm39) |
Q245L |
possibly damaging |
Het |
| Gna11 |
A |
T |
10: 81,369,167 (GRCm39) |
I132N |
probably damaging |
Het |
| Ikzf4 |
C |
A |
10: 128,472,424 (GRCm39) |
|
probably null |
Het |
| Il9r |
C |
T |
11: 32,141,000 (GRCm39) |
G346D |
possibly damaging |
Het |
| Krt71 |
C |
T |
15: 101,648,775 (GRCm39) |
R190Q |
probably benign |
Het |
| Nktr |
G |
T |
9: 121,577,480 (GRCm39) |
|
probably benign |
Het |
| Or51f23c-ps1 |
T |
C |
7: 102,431,465 (GRCm39) |
S261P |
probably benign |
Het |
| Or5ac17 |
A |
T |
16: 59,036,472 (GRCm39) |
F168Y |
probably damaging |
Het |
| Peli2 |
T |
C |
14: 48,493,905 (GRCm39) |
S376P |
possibly damaging |
Het |
| Pik3r2 |
C |
T |
8: 71,224,670 (GRCm39) |
A202T |
probably benign |
Het |
| Pms1 |
A |
T |
1: 53,231,353 (GRCm39) |
I832K |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,124,212 (GRCm39) |
K2765E |
probably benign |
Het |
| Rp1 |
A |
T |
1: 4,296,840 (GRCm39) |
N744K |
unknown |
Het |
| Smcr8 |
T |
C |
11: 60,669,841 (GRCm39) |
Y330H |
possibly damaging |
Het |
| Sned1 |
A |
T |
1: 93,211,318 (GRCm39) |
R281S |
possibly damaging |
Het |
| Synm |
A |
G |
7: 67,383,393 (GRCm39) |
V1423A |
probably benign |
Het |
| Syt10 |
G |
A |
15: 89,698,471 (GRCm39) |
T291I |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,744,880 (GRCm39) |
|
probably benign |
Het |
| Wdr3 |
T |
C |
3: 100,063,719 (GRCm39) |
T186A |
possibly damaging |
Het |
| Zfp451 |
A |
C |
1: 33,812,092 (GRCm39) |
D874E |
probably damaging |
Het |
|
| Other mutations in Mfsd8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1300:Mfsd8
|
UTSW |
3 |
40,778,333 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4660:Mfsd8
|
UTSW |
3 |
40,776,372 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5670:Mfsd8
|
UTSW |
3 |
40,776,484 (GRCm39) |
missense |
probably benign |
|
|
R6092:Mfsd8
|
UTSW |
3 |
40,774,031 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6126:Mfsd8
|
UTSW |
3 |
40,786,446 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7571:Mfsd8
|
UTSW |
3 |
40,785,097 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8015:Mfsd8
|
UTSW |
3 |
40,801,270 (GRCm39) |
unclassified |
probably benign |
|
|
R8169:Mfsd8
|
UTSW |
3 |
40,791,550 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8242:Mfsd8
|
UTSW |
3 |
40,789,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8243:Mfsd8
|
UTSW |
3 |
40,789,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8285:Mfsd8
|
UTSW |
3 |
40,789,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8335:Mfsd8
|
UTSW |
3 |
40,789,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8337:Mfsd8
|
UTSW |
3 |
40,789,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9055:Mfsd8
|
UTSW |
3 |
40,786,493 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9477:Mfsd8
|
UTSW |
3 |
40,785,057 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9486:Mfsd8
|
UTSW |
3 |
40,789,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9567:Mfsd8
|
UTSW |
3 |
40,793,933 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Mfsd8
|
UTSW |
3 |
40,801,296 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCACCCTTTCTGCTTCAAATG -3'
(R):5'- TCAGGGACTATAATTACCTCGTTG -3'
Sequencing Primer
(F):5'- CTGTCTGTACAATAAAGCATATGACC -3'
(R):5'- CCGATAACTAACATTTTACTGCT -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation