Incidental Mutation 'IGL01546:Mfsd4b2'
| ID |
90328 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mfsd4b2
|
| Ensembl Gene |
ENSMUSG00000039339 |
| Gene Name |
major facilitator superfamily domain containing 4B2 |
| Synonyms |
2010001E11Rik, Mfsd4b2, Mfsd4b2-ps |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
IGL01546
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
39796956-39802945 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 39797471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 295
(W295R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045526]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045526
AA Change: W295R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040384
Gene: ENSMUSG00000039339
AA Change: W295R
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amdhd2 |
C |
A |
17: 24,382,574 (GRCm39) |
R22L |
probably benign |
Het |
| Arg2 |
T |
C |
12: 79,196,633 (GRCm39) |
|
probably benign |
Het |
| Catip |
T |
C |
1: 74,401,954 (GRCm39) |
L43P |
probably damaging |
Het |
| Ccdc30 |
A |
C |
4: 119,255,385 (GRCm39) |
L123R |
probably damaging |
Het |
| Cep89 |
T |
C |
7: 35,120,325 (GRCm39) |
L369P |
probably damaging |
Het |
| Dolpp1 |
T |
C |
2: 30,287,107 (GRCm39) |
F180L |
probably damaging |
Het |
| Kctd19 |
T |
C |
8: 106,113,594 (GRCm39) |
H670R |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,903,068 (GRCm39) |
I315N |
probably benign |
Het |
| Mgam |
A |
G |
6: 40,631,627 (GRCm39) |
T116A |
probably damaging |
Het |
| Mn1 |
A |
T |
5: 111,569,114 (GRCm39) |
D1028V |
probably damaging |
Het |
| Or1e17 |
G |
A |
11: 73,832,020 (GRCm39) |
G316D |
probably benign |
Het |
| Or2ag1b |
A |
G |
7: 106,288,738 (GRCm39) |
S67P |
probably damaging |
Het |
| Or52b1 |
T |
C |
7: 104,978,899 (GRCm39) |
R167G |
probably damaging |
Het |
| Or52j3 |
A |
T |
7: 102,836,617 (GRCm39) |
I270F |
probably damaging |
Het |
| Or7a40 |
A |
G |
16: 16,491,129 (GRCm39) |
S239P |
probably damaging |
Het |
| Or7g27 |
T |
G |
9: 19,250,068 (GRCm39) |
V104G |
possibly damaging |
Het |
| Phc3 |
C |
A |
3: 31,015,888 (GRCm39) |
A108S |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,429,712 (GRCm39) |
Y3310C |
probably damaging |
Het |
| Ppp4r3b |
T |
C |
11: 29,159,488 (GRCm39) |
|
probably null |
Het |
| Slx4ip |
A |
G |
2: 136,908,119 (GRCm39) |
T159A |
probably benign |
Het |
| Sos1 |
T |
A |
17: 80,716,040 (GRCm39) |
Y974F |
probably damaging |
Het |
| Spaca7b |
T |
A |
8: 11,706,136 (GRCm39) |
M133L |
probably benign |
Het |
| Taar8a |
A |
T |
10: 23,952,813 (GRCm39) |
Y139F |
possibly damaging |
Het |
| Vcam1 |
A |
G |
3: 115,909,591 (GRCm39) |
C579R |
possibly damaging |
Het |
| Zdhhc17 |
C |
T |
10: 110,782,054 (GRCm39) |
V547M |
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 |
|
|
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 |
|
R5563:Mfsd4b2
|
UTSW |
10 |
39,798,038 (GRCm39) |
missense |
probably benign |
0.15 |
|
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 |
|
| Posted On |
2013-12-03 |
Incidental Mutation