Incidental Mutation 'IGL00422:Mfsd4a'
| ID |
7374 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mfsd4a
|
| Ensembl Gene |
ENSMUSG00000059149 |
| Gene Name |
major facilitator superfamily domain containing 4A |
| Synonyms |
A930031D07Rik, Mfsd4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL00422
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
131950544-131995800 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 131968332 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 369
(I369V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046658]
[ENSMUST00000112365]
[ENSMUST00000112370]
[ENSMUST00000126927]
[ENSMUST00000144548]
[ENSMUST00000146267]
[ENSMUST00000159038]
[ENSMUST00000161864]
[ENSMUST00000160656]
|
| AlphaFold |
Q6PDC8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046658
AA Change: I323V
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000039635
Gene: ENSMUSG00000059149
AA Change: I323V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
40 |
N/A |
INTRINSIC |
|
transmembrane domain
|
55 |
74 |
N/A |
INTRINSIC |
|
transmembrane domain
|
81 |
99 |
N/A |
INTRINSIC |
|
transmembrane domain
|
109 |
131 |
N/A |
INTRINSIC |
|
transmembrane domain
|
138 |
160 |
N/A |
INTRINSIC |
|
transmembrane domain
|
218 |
240 |
N/A |
INTRINSIC |
|
transmembrane domain
|
245 |
267 |
N/A |
INTRINSIC |
|
transmembrane domain
|
280 |
302 |
N/A |
INTRINSIC |
|
transmembrane domain
|
309 |
331 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112365
AA Change: Y451C
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000107984
Gene: ENSMUSG00000059149
AA Change: Y451C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
21 |
430 |
1.3e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112370
AA Change: I475V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107989
Gene: ENSMUSG00000059149
AA Change: I475V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
21 |
405 |
1.1e-11 |
PFAM |
|
transmembrane domain
|
433 |
455 |
N/A |
INTRINSIC |
|
transmembrane domain
|
460 |
482 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126927
AA Change: I475V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000116706
Gene: ENSMUSG00000059149
AA Change: I475V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
21 |
405 |
1.1e-11 |
PFAM |
|
transmembrane domain
|
433 |
455 |
N/A |
INTRINSIC |
|
transmembrane domain
|
460 |
482 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144548
AA Change: I475V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000116282
Gene: ENSMUSG00000059149
AA Change: I475V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
21 |
396 |
4.2e-12 |
PFAM |
|
transmembrane domain
|
398 |
420 |
N/A |
INTRINSIC |
|
transmembrane domain
|
433 |
455 |
N/A |
INTRINSIC |
|
transmembrane domain
|
460 |
482 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146267
|
| SMART Domains |
Protein: ENSMUSP00000117864
Gene: ENSMUSG00000059149
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
40 |
N/A |
INTRINSIC |
|
transmembrane domain
|
55 |
74 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159038
AA Change: I475V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000125558
Gene: ENSMUSG00000059149
AA Change: I475V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
20 |
395 |
6.8e-12 |
PFAM |
|
transmembrane domain
|
398 |
420 |
N/A |
INTRINSIC |
|
transmembrane domain
|
433 |
455 |
N/A |
INTRINSIC |
|
transmembrane domain
|
460 |
482 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161864
AA Change: I391V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000124961
Gene: ENSMUSG00000059149
AA Change: I391V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
40 |
N/A |
INTRINSIC |
|
transmembrane domain
|
55 |
74 |
N/A |
INTRINSIC |
|
transmembrane domain
|
81 |
103 |
N/A |
INTRINSIC |
|
transmembrane domain
|
107 |
126 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
218 |
420 |
1.1e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160656
AA Change: I369V
PolyPhen 2
Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000125138
Gene: ENSMUSG00000059149
AA Change: I369V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
2 |
20 |
N/A |
INTRINSIC |
|
transmembrane domain
|
30 |
52 |
N/A |
INTRINSIC |
|
transmembrane domain
|
59 |
81 |
N/A |
INTRINSIC |
|
transmembrane domain
|
85 |
104 |
N/A |
INTRINSIC |
|
transmembrane domain
|
196 |
218 |
N/A |
INTRINSIC |
|
transmembrane domain
|
238 |
257 |
N/A |
INTRINSIC |
|
transmembrane domain
|
269 |
288 |
N/A |
INTRINSIC |
|
transmembrane domain
|
292 |
314 |
N/A |
INTRINSIC |
|
transmembrane domain
|
327 |
349 |
N/A |
INTRINSIC |
|
transmembrane domain
|
354 |
376 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181695
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189227
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159382
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
C |
T |
19: 57,056,618 (GRCm39) |
A359T |
probably damaging |
Het |
| Adam34l |
A |
G |
8: 44,079,388 (GRCm39) |
F279L |
probably damaging |
Het |
| Ajuba |
A |
T |
14: 54,809,226 (GRCm39) |
Y400* |
probably null |
Het |
| Cckar |
T |
A |
5: 53,857,171 (GRCm39) |
D342V |
possibly damaging |
Het |
| Cdc123 |
A |
G |
2: 5,803,260 (GRCm39) |
V253A |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,109,220 (GRCm39) |
D461G |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,859,106 (GRCm39) |
E2399K |
probably damaging |
Het |
| Cln8 |
G |
A |
8: 14,946,637 (GRCm39) |
C217Y |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,407,236 (GRCm39) |
V2119A |
possibly damaging |
Het |
| Dhx33 |
T |
C |
11: 70,892,446 (GRCm39) |
S108G |
probably benign |
Het |
| Dip2a |
T |
A |
10: 76,149,070 (GRCm39) |
M194L |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,031,831 (GRCm39) |
K1779R |
probably damaging |
Het |
| Fads3 |
T |
G |
19: 10,033,045 (GRCm39) |
F328V |
possibly damaging |
Het |
| Flad1 |
A |
G |
3: 89,313,160 (GRCm39) |
|
probably null |
Het |
| Gm7535 |
G |
T |
17: 18,132,150 (GRCm39) |
|
probably benign |
Het |
| Gnpat |
A |
G |
8: 125,611,752 (GRCm39) |
E513G |
probably damaging |
Het |
| H2-M5 |
A |
G |
17: 37,298,732 (GRCm39) |
I238T |
probably damaging |
Het |
| Hoxd12 |
G |
A |
2: 74,505,771 (GRCm39) |
R114Q |
probably damaging |
Het |
| Ide |
T |
C |
19: 37,253,931 (GRCm39) |
I903V |
unknown |
Het |
| Ifi209 |
T |
G |
1: 173,466,529 (GRCm39) |
D120E |
possibly damaging |
Het |
| Map3k10 |
T |
C |
7: 27,367,894 (GRCm39) |
D248G |
probably damaging |
Het |
| Mat2b |
C |
A |
11: 40,578,565 (GRCm39) |
G41C |
probably damaging |
Het |
| Myom1 |
T |
A |
17: 71,433,093 (GRCm39) |
V1480E |
probably damaging |
Het |
| Myom2 |
A |
T |
8: 15,119,490 (GRCm39) |
D127V |
probably damaging |
Het |
| Olfml2b |
T |
A |
1: 170,496,635 (GRCm39) |
V422E |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,971,116 (GRCm39) |
A228T |
probably damaging |
Het |
| Rad17 |
A |
T |
13: 100,766,033 (GRCm39) |
I365K |
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,766,031 (GRCm39) |
S366T |
probably damaging |
Het |
| Rpp14 |
G |
A |
14: 8,083,934 (GRCm38) |
G30E |
possibly damaging |
Het |
| Slco1a6 |
A |
C |
6: 142,106,743 (GRCm39) |
C15G |
probably benign |
Het |
| Spag9 |
T |
A |
11: 93,988,692 (GRCm39) |
F571I |
probably benign |
Het |
| Ttc27 |
T |
A |
17: 75,087,811 (GRCm39) |
C459S |
probably damaging |
Het |
| Washc2 |
A |
G |
6: 116,233,637 (GRCm39) |
T888A |
probably benign |
Het |
| Zcchc7 |
A |
T |
4: 44,931,318 (GRCm39) |
H490L |
possibly damaging |
Het |
|
| Other mutations in Mfsd4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01348:Mfsd4a
|
APN |
1 |
131,995,564 (GRCm39) |
missense |
probably null |
0.96 |
|
IGL01621:Mfsd4a
|
APN |
1 |
131,981,881 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01934:Mfsd4a
|
APN |
1 |
131,974,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02429:Mfsd4a
|
APN |
1 |
131,956,237 (GRCm39) |
missense |
probably benign |
|
|
R0362:Mfsd4a
|
UTSW |
1 |
131,987,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0551:Mfsd4a
|
UTSW |
1 |
131,969,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1435:Mfsd4a
|
UTSW |
1 |
131,995,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1566:Mfsd4a
|
UTSW |
1 |
131,986,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1739:Mfsd4a
|
UTSW |
1 |
131,995,621 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1793:Mfsd4a
|
UTSW |
1 |
131,987,077 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1799:Mfsd4a
|
UTSW |
1 |
131,981,334 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2244:Mfsd4a
|
UTSW |
1 |
131,956,243 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3870:Mfsd4a
|
UTSW |
1 |
131,974,091 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4177:Mfsd4a
|
UTSW |
1 |
131,968,295 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4330:Mfsd4a
|
UTSW |
1 |
131,981,291 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4705:Mfsd4a
|
UTSW |
1 |
131,981,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4717:Mfsd4a
|
UTSW |
1 |
131,985,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5886:Mfsd4a
|
UTSW |
1 |
131,995,465 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5890:Mfsd4a
|
UTSW |
1 |
131,966,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7092:Mfsd4a
|
UTSW |
1 |
131,995,401 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7189:Mfsd4a
|
UTSW |
1 |
131,980,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8675:Mfsd4a
|
UTSW |
1 |
131,986,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9668:Mfsd4a
|
UTSW |
1 |
131,969,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation