Incidental Mutation 'R5563:Mfsd4b2'
| ID |
436710 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd4b2
|
| Ensembl Gene |
ENSMUSG00000039339 |
| Gene Name |
major facilitator superfamily domain containing 4B2 |
| Synonyms |
2010001E11Rik, Mfsd4b2, Mfsd4b2-ps |
| MMRRC Submission |
043120-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R5563 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
39796956-39802945 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 39798038 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 106
(E106K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045526]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045526
AA Change: E106K
PolyPhen 2
Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000040384
Gene: ENSMUSG00000039339
AA Change: E106K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
1 |
322 |
3.9e-11 |
PFAM |
|
transmembrane domain
|
335 |
357 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas1 |
C |
T |
5: 100,960,040 (GRCm39) |
R104H |
possibly damaging |
Het |
| Actn3 |
T |
C |
19: 4,922,344 (GRCm39) |
H101R |
probably damaging |
Het |
| Akp3 |
T |
C |
1: 87,053,646 (GRCm39) |
S174P |
probably damaging |
Het |
| Aldh5a1 |
C |
A |
13: 25,102,609 (GRCm39) |
A285S |
possibly damaging |
Het |
| Atp7b |
G |
A |
8: 22,518,730 (GRCm39) |
P36L |
possibly damaging |
Het |
| Cdh20 |
C |
T |
1: 104,875,082 (GRCm39) |
P288L |
probably benign |
Het |
| Fktn |
T |
A |
4: 53,761,327 (GRCm39) |
N481K |
probably damaging |
Het |
| Fmo5 |
C |
A |
3: 97,546,207 (GRCm39) |
H173Q |
probably damaging |
Het |
| Fnip1 |
A |
G |
11: 54,395,688 (GRCm39) |
R1021G |
probably benign |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Grin2a |
A |
G |
16: 9,525,581 (GRCm39) |
F337L |
probably benign |
Het |
| Ighv3-1 |
T |
A |
12: 113,928,206 (GRCm39) |
Y51F |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,673,944 (GRCm39) |
K569E |
possibly damaging |
Het |
| Mars1 |
T |
C |
10: 127,144,530 (GRCm39) |
Q170R |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,914,185 (GRCm39) |
D285G |
probably damaging |
Het |
| Mpp4 |
A |
G |
1: 59,163,788 (GRCm39) |
|
probably null |
Het |
| Npat |
A |
G |
9: 53,474,427 (GRCm39) |
I740V |
probably damaging |
Het |
| Parp6 |
G |
A |
9: 59,535,956 (GRCm39) |
|
probably null |
Het |
| Plin2 |
T |
C |
4: 86,580,341 (GRCm39) |
K140R |
probably benign |
Het |
| Prdm2 |
T |
C |
4: 142,861,200 (GRCm39) |
T697A |
probably benign |
Het |
| Prkaa1 |
A |
G |
15: 5,199,437 (GRCm39) |
E179G |
probably damaging |
Het |
| Prtg |
G |
A |
9: 72,764,180 (GRCm39) |
R551H |
probably damaging |
Het |
| Psd4 |
A |
G |
2: 24,284,897 (GRCm39) |
R254G |
probably benign |
Het |
| Rhpn2 |
T |
A |
7: 35,070,652 (GRCm39) |
L194H |
probably damaging |
Het |
| Sp7 |
T |
C |
15: 102,267,755 (GRCm39) |
D17G |
possibly damaging |
Het |
| Topbp1 |
T |
C |
9: 103,188,712 (GRCm39) |
V128A |
possibly damaging |
Het |
| Uba5 |
G |
T |
9: 103,926,446 (GRCm39) |
T372K |
probably benign |
Het |
| Vmn2r13 |
T |
A |
5: 109,321,846 (GRCm39) |
I284L |
probably benign |
Het |
| Vmn2r68 |
T |
C |
7: 84,871,283 (GRCm39) |
T667A |
probably damaging |
Het |
|
| Other mutations in Mfsd4b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:Mfsd4b2
|
APN |
10 |
39,801,057 (GRCm39) |
splice site |
probably benign |
|
|
IGL01546:Mfsd4b2
|
APN |
10 |
39,797,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01662:Mfsd4b2
|
APN |
10 |
39,798,193 (GRCm39) |
splice site |
probably benign |
|
|
IGL02151:Mfsd4b2
|
APN |
10 |
39,797,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1928:Mfsd4b2
|
UTSW |
10 |
39,797,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2851:Mfsd4b2
|
UTSW |
10 |
39,798,119 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3777:Mfsd4b2
|
UTSW |
10 |
39,797,527 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5055:Mfsd4b2
|
UTSW |
10 |
39,799,773 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5257:Mfsd4b2
|
UTSW |
10 |
39,798,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5258:Mfsd4b2
|
UTSW |
10 |
39,798,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5728:Mfsd4b2
|
UTSW |
10 |
39,799,791 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5888:Mfsd4b2
|
UTSW |
10 |
39,798,031 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6147:Mfsd4b2
|
UTSW |
10 |
39,797,573 (GRCm39) |
missense |
probably benign |
|
|
R6362:Mfsd4b2
|
UTSW |
10 |
39,797,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7462:Mfsd4b2
|
UTSW |
10 |
39,797,877 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7801:Mfsd4b2
|
UTSW |
10 |
39,799,777 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8126:Mfsd4b2
|
UTSW |
10 |
39,797,984 (GRCm39) |
missense |
probably benign |
|
|
R8158:Mfsd4b2
|
UTSW |
10 |
39,798,064 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8677:Mfsd4b2
|
UTSW |
10 |
39,799,805 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9013:Mfsd4b2
|
UTSW |
10 |
39,798,062 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1176:Mfsd4b2
|
UTSW |
10 |
39,797,596 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCTCAGTAGATGCTCTGG -3'
(R):5'- AGAGGGGCTCTTGTATAAACTTAG -3'
Sequencing Primer
(F):5'- CATATGCCCACAGCAGAT -3'
(R):5'- GGGCTCTTGTATAAACTTAGAATGTC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation