Incidental Mutation 'R5300:Mfsd4b1'
| ID |
405608 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd4b1
|
| Ensembl Gene |
ENSMUSG00000038522 |
| Gene Name |
major facilitator superfamily domain containing 4B1 |
| Synonyms |
AI317395 |
| MMRRC Submission |
042883-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R5300 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
39877571-39901264 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 39879027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Cysteine
at position 290
(F290C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128324
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163705]
|
| AlphaFold |
Q8VCV9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163705
AA Change: F290C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128324
Gene: ENSMUSG00000038522
AA Change: F290C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
1 |
369 |
1.9e-15 |
PFAM |
|
transmembrane domain
|
382 |
404 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176975
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank1 |
A |
G |
8: 23,622,517 (GRCm39) |
K1644E |
probably benign |
Het |
| C7 |
C |
A |
15: 5,061,432 (GRCm39) |
G306W |
probably damaging |
Het |
| Ccdc185 |
A |
G |
1: 182,575,645 (GRCm39) |
V348A |
probably benign |
Het |
| Cfap58 |
A |
T |
19: 47,929,595 (GRCm39) |
I19F |
probably benign |
Het |
| Dnaaf2 |
C |
G |
12: 69,245,002 (GRCm39) |
V20L |
probably damaging |
Het |
| Dpy19l3 |
A |
G |
7: 35,426,735 (GRCm39) |
Y58H |
probably damaging |
Het |
| Dsc1 |
T |
C |
18: 20,227,917 (GRCm39) |
S480G |
probably damaging |
Het |
| Eno4 |
G |
A |
19: 58,943,982 (GRCm39) |
|
probably null |
Het |
| Gm136 |
T |
G |
4: 34,750,930 (GRCm39) |
K114N |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,347,784 (GRCm39) |
L2970F |
unknown |
Het |
| Ly86 |
C |
T |
13: 37,602,588 (GRCm39) |
T160I |
probably benign |
Het |
| Minar1 |
A |
T |
9: 89,485,252 (GRCm39) |
S48R |
probably damaging |
Het |
| Nbeal1 |
T |
G |
1: 60,274,718 (GRCm39) |
Y376* |
probably null |
Het |
| Nipbl |
A |
T |
15: 8,380,981 (GRCm39) |
S604T |
probably benign |
Het |
| Pml |
A |
C |
9: 58,154,302 (GRCm39) |
N190K |
probably damaging |
Het |
| Rin3 |
C |
A |
12: 102,335,929 (GRCm39) |
F533L |
probably benign |
Het |
| Scamp1 |
A |
G |
13: 94,340,670 (GRCm39) |
V233A |
probably damaging |
Het |
| Sppl2c |
A |
T |
11: 104,077,901 (GRCm39) |
N234Y |
possibly damaging |
Het |
| Tfap2b |
A |
G |
1: 19,298,677 (GRCm39) |
K278R |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,550,704 (GRCm39) |
Y278C |
probably damaging |
Het |
| Trdn |
A |
G |
10: 33,071,978 (GRCm39) |
E215G |
probably damaging |
Het |
| Tssk6 |
T |
C |
8: 70,355,285 (GRCm39) |
S110P |
probably benign |
Het |
| Vmn2r15 |
A |
T |
5: 109,441,974 (GRCm39) |
L153Q |
probably damaging |
Het |
| Wdr17 |
C |
T |
8: 55,134,434 (GRCm39) |
G349R |
probably damaging |
Het |
| Zfp667 |
A |
G |
7: 6,307,635 (GRCm39) |
H101R |
probably benign |
Het |
| Zfp772 |
A |
T |
7: 7,207,157 (GRCm39) |
M178K |
probably benign |
Het |
|
| Other mutations in Mfsd4b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01650:Mfsd4b1
|
APN |
10 |
39,879,115 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL03356:Mfsd4b1
|
APN |
10 |
39,878,827 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1467:Mfsd4b1
|
UTSW |
10 |
39,878,631 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1467:Mfsd4b1
|
UTSW |
10 |
39,878,631 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1770:Mfsd4b1
|
UTSW |
10 |
39,879,223 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1930:Mfsd4b1
|
UTSW |
10 |
39,882,070 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2122:Mfsd4b1
|
UTSW |
10 |
39,878,647 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2290:Mfsd4b1
|
UTSW |
10 |
39,879,327 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3508:Mfsd4b1
|
UTSW |
10 |
39,878,715 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4469:Mfsd4b1
|
UTSW |
10 |
39,888,091 (GRCm39) |
intron |
probably benign |
|
|
R4594:Mfsd4b1
|
UTSW |
10 |
39,883,313 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6250:Mfsd4b1
|
UTSW |
10 |
39,879,106 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6426:Mfsd4b1
|
UTSW |
10 |
39,882,073 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7061:Mfsd4b1
|
UTSW |
10 |
39,879,382 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7595:Mfsd4b1
|
UTSW |
10 |
39,879,221 (GRCm39) |
nonsense |
probably null |
|
|
R7734:Mfsd4b1
|
UTSW |
10 |
39,883,374 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7737:Mfsd4b1
|
UTSW |
10 |
39,879,274 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7852:Mfsd4b1
|
UTSW |
10 |
39,879,411 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7893:Mfsd4b1
|
UTSW |
10 |
39,883,313 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9278:Mfsd4b1
|
UTSW |
10 |
39,883,330 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9441:Mfsd4b1
|
UTSW |
10 |
39,878,680 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9786:Mfsd4b1
|
UTSW |
10 |
39,878,865 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0063:Mfsd4b1
|
UTSW |
10 |
39,883,303 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCAGATTTCCCAGTTAAGGTGG -3'
(R):5'- AGGGCTAAATATCACAGGGCC -3'
Sequencing Primer
(F):5'- GTGTACTGCTCAATCCAGGAG -3'
(R):5'- GGCCCTGCTATGCCTGC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation