Incidental Mutation 'R5456:Mfsd1'
| ID |
501066 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd1
|
| Ensembl Gene |
ENSMUSG00000027775 |
| Gene Name |
major facilitator superfamily domain containing 1 |
| Synonyms |
1200003O06Rik |
| MMRRC Submission |
043019-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5456 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
67490101-67511564 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67497166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 147
(I147T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029344]
|
| AlphaFold |
Q9DC37 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029344
AA Change: I147T
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000029344
Gene: ENSMUSG00000027775
AA Change: I147T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
45 |
404 |
2.3e-31 |
PFAM |
|
Pfam:MFS_2
|
175 |
443 |
2.9e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192776
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot12 |
A |
G |
13: 91,889,759 (GRCm39) |
D37G |
probably damaging |
Het |
| Adcy5 |
T |
C |
16: 35,118,892 (GRCm39) |
F1081S |
probably damaging |
Het |
| Apmap |
T |
A |
2: 150,431,989 (GRCm39) |
I128L |
probably benign |
Het |
| Arhgap12 |
G |
A |
18: 6,112,170 (GRCm39) |
Q65* |
probably null |
Het |
| Baat |
C |
T |
4: 49,502,949 (GRCm39) |
V58I |
possibly damaging |
Het |
| Bco2 |
T |
C |
9: 50,456,644 (GRCm39) |
|
probably null |
Het |
| Bend3 |
T |
C |
10: 43,386,542 (GRCm39) |
Y312H |
probably damaging |
Het |
| Btnl2 |
A |
T |
17: 34,582,295 (GRCm39) |
Y287F |
probably benign |
Het |
| Cd22 |
T |
C |
7: 30,575,464 (GRCm39) |
I193V |
probably benign |
Het |
| Commd3 |
A |
G |
2: 18,678,968 (GRCm39) |
E95G |
probably damaging |
Het |
| Dcbld1 |
A |
G |
10: 52,190,486 (GRCm39) |
D215G |
probably damaging |
Het |
| Elfn1 |
A |
G |
5: 139,958,571 (GRCm39) |
Y525C |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,399,877 (GRCm39) |
T409A |
probably benign |
Het |
| Fshr |
T |
A |
17: 89,293,776 (GRCm39) |
I301F |
probably benign |
Het |
| Hemgn |
C |
T |
4: 46,396,571 (GRCm39) |
V222M |
probably damaging |
Het |
| Igsf3 |
C |
T |
3: 101,334,537 (GRCm39) |
H205Y |
probably benign |
Het |
| Mslnl |
A |
G |
17: 25,962,133 (GRCm39) |
D177G |
probably damaging |
Het |
| Nat2 |
G |
A |
8: 67,954,225 (GRCm39) |
V112I |
probably damaging |
Het |
| Or4c10b |
G |
A |
2: 89,711,602 (GRCm39) |
G144E |
probably damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Pabpc1l |
T |
C |
2: 163,869,580 (GRCm39) |
S127P |
probably damaging |
Het |
| Poln |
A |
T |
5: 34,164,786 (GRCm39) |
L845Q |
possibly damaging |
Het |
| Ppm1f |
T |
A |
16: 16,741,610 (GRCm39) |
D361E |
probably damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,692,381 (GRCm39) |
|
probably null |
Het |
| Rarb |
G |
A |
14: 16,436,843 (GRCm38) |
T226I |
probably damaging |
Het |
| Sel1l3 |
T |
C |
5: 53,357,378 (GRCm39) |
K205E |
probably benign |
Het |
| Sh3glb1 |
T |
A |
3: 144,415,114 (GRCm39) |
I75L |
probably benign |
Het |
| Srgap1 |
G |
A |
10: 121,705,716 (GRCm39) |
S236L |
probably benign |
Het |
| Tmco3 |
A |
G |
8: 13,369,815 (GRCm39) |
Y609C |
probably damaging |
Het |
| Trhde |
A |
G |
10: 114,322,665 (GRCm39) |
V712A |
possibly damaging |
Het |
| Trim13 |
A |
G |
14: 61,842,523 (GRCm39) |
D180G |
possibly damaging |
Het |
| Tst |
T |
C |
15: 78,284,158 (GRCm39) |
E223G |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,201,263 (GRCm39) |
I397M |
probably benign |
Het |
| Usp31 |
T |
C |
7: 121,269,500 (GRCm39) |
D481G |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,834,729 (GRCm39) |
M1686K |
possibly damaging |
Het |
| Wdr83 |
T |
C |
8: 85,806,837 (GRCm39) |
H81R |
probably benign |
Het |
|
| Other mutations in Mfsd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01781:Mfsd1
|
APN |
3 |
67,495,244 (GRCm39) |
splice site |
probably benign |
|
|
IGL02186:Mfsd1
|
APN |
3 |
67,503,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02209:Mfsd1
|
APN |
3 |
67,505,465 (GRCm39) |
splice site |
probably benign |
|
|
IGL02293:Mfsd1
|
APN |
3 |
67,505,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03132:Mfsd1
|
APN |
3 |
67,495,273 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
edelweiss
|
UTSW |
3 |
67,503,936 (GRCm39) |
nonsense |
probably null |
|
|
Schneeweiss
|
UTSW |
3 |
67,492,995 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
white
|
UTSW |
3 |
67,497,162 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0948:Mfsd1
|
UTSW |
3 |
67,504,067 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2355:Mfsd1
|
UTSW |
3 |
67,508,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3407:Mfsd1
|
UTSW |
3 |
67,504,046 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R3408:Mfsd1
|
UTSW |
3 |
67,504,046 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R3729:Mfsd1
|
UTSW |
3 |
67,490,298 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3749:Mfsd1
|
UTSW |
3 |
67,490,286 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4405:Mfsd1
|
UTSW |
3 |
67,507,943 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4867:Mfsd1
|
UTSW |
3 |
67,495,320 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5429:Mfsd1
|
UTSW |
3 |
67,507,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5892:Mfsd1
|
UTSW |
3 |
67,497,162 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6091:Mfsd1
|
UTSW |
3 |
67,507,270 (GRCm39) |
splice site |
probably null |
|
|
R6120:Mfsd1
|
UTSW |
3 |
67,501,718 (GRCm39) |
nonsense |
probably null |
|
|
R6671:Mfsd1
|
UTSW |
3 |
67,492,995 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6752:Mfsd1
|
UTSW |
3 |
67,503,936 (GRCm39) |
nonsense |
probably null |
|
|
R6799:Mfsd1
|
UTSW |
3 |
67,507,314 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7117:Mfsd1
|
UTSW |
3 |
67,507,391 (GRCm39) |
splice site |
probably null |
|
|
R9748:Mfsd1
|
UTSW |
3 |
67,499,910 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTCAGTTGCCATCTTTGTCATG -3'
(R):5'- ACATCCAAGTGTGCTCTAGC -3'
Sequencing Primer
(F):5'- GTCATGCTCATGGTCACACAG -3'
(R):5'- GCACACTTCTTTCTATGACTGAAGAG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation