Incidental Mutation 'R2244:Mfsd4a'
| ID |
240592 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd4a
|
| Ensembl Gene |
ENSMUSG00000059149 |
| Gene Name |
major facilitator superfamily domain containing 4A |
| Synonyms |
A930031D07Rik, Mfsd4 |
| MMRRC Submission |
040244-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R2244 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
131950544-131995800 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 131956243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 507
(E507V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027696]
[ENSMUST00000086556]
[ENSMUST00000112370]
[ENSMUST00000126927]
[ENSMUST00000144548]
[ENSMUST00000146267]
[ENSMUST00000160656]
|
| AlphaFold |
Q6PDC8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027696
|
| SMART Domains |
Protein: ENSMUSP00000027696
Gene: ENSMUSG00000026436
| Domain | Start | End | E-Value | Type |
|---|
|
ETS
|
4 |
89 |
4.95e-58 |
SMART |
|
low complexity region
|
147 |
158 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
264 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
360 |
373 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086556
|
| SMART Domains |
Protein: ENSMUSP00000083743
Gene: ENSMUSG00000026436
| Domain | Start | End | E-Value | Type |
|---|
|
ETS
|
4 |
89 |
4.95e-58 |
SMART |
|
low complexity region
|
147 |
158 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
264 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
360 |
373 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112370
AA Change: E507V
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000107989
Gene: ENSMUSG00000059149
AA Change: E507V
| 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: E507V
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000116706
Gene: ENSMUSG00000059149
AA Change: E507V
| 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 |
noncoding transcript
Transcript: ENSMUST00000131159
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144548
AA Change: E507V
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000116282
Gene: ENSMUSG00000059149
AA Change: E507V
| 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 |
unknown
Transcript: ENSMUST00000160656
AA Change: E401V
|
| SMART Domains |
Protein: ENSMUSP00000125138
Gene: ENSMUSG00000059149
AA Change: E401V
| 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: ENSMUST00000163016
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147218
|
| SMART Domains |
Protein: ENSMUSP00000114255
Gene: ENSMUSG00000026436
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
233 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas2 |
A |
G |
7: 132,484,940 (GRCm39) |
T328A |
probably benign |
Het |
| Aen |
T |
C |
7: 78,557,045 (GRCm39) |
Y156H |
probably damaging |
Het |
| Aip |
T |
C |
19: 4,164,796 (GRCm39) |
D263G |
probably benign |
Het |
| Car1 |
T |
A |
3: 14,835,912 (GRCm39) |
I70F |
possibly damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,889,775 (GRCm39) |
F1357Y |
probably damaging |
Het |
| Cit |
A |
G |
5: 116,064,564 (GRCm39) |
E482G |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,692,780 (GRCm39) |
P97S |
probably damaging |
Het |
| Fbxw24 |
T |
C |
9: 109,434,117 (GRCm39) |
T398A |
possibly damaging |
Het |
| Fpr3 |
T |
C |
17: 18,191,449 (GRCm39) |
F240S |
probably benign |
Het |
| Herc6 |
A |
T |
6: 57,575,602 (GRCm39) |
R208* |
probably null |
Het |
| Itsn1 |
A |
G |
16: 91,650,659 (GRCm39) |
N928S |
probably null |
Het |
| Ly75 |
T |
C |
2: 60,180,257 (GRCm39) |
D640G |
probably benign |
Het |
| Nyap1 |
T |
C |
5: 137,733,576 (GRCm39) |
T486A |
probably damaging |
Het |
| Or11g2 |
G |
A |
14: 50,856,114 (GRCm39) |
C145Y |
probably damaging |
Het |
| Pgam2 |
T |
C |
11: 5,751,723 (GRCm39) |
T238A |
probably benign |
Het |
| Pgm2 |
A |
G |
5: 64,264,045 (GRCm39) |
D343G |
probably benign |
Het |
| Rbpjl |
G |
T |
2: 164,245,137 (GRCm39) |
|
probably benign |
Het |
| Rhobtb2 |
CGAGGAGGAGGAGGAGG |
CGAGGAGGAGGAGG |
14: 70,024,976 (GRCm39) |
|
probably benign |
Het |
| Selp |
G |
T |
1: 163,964,855 (GRCm39) |
E506* |
probably null |
Het |
| Sgo2a |
T |
C |
1: 58,056,213 (GRCm39) |
I799T |
probably benign |
Het |
| Slc45a2 |
A |
G |
15: 11,003,087 (GRCm39) |
T187A |
probably benign |
Het |
| Tenm2 |
A |
T |
11: 36,755,689 (GRCm39) |
L103H |
probably damaging |
Het |
| Thbs2 |
A |
G |
17: 14,891,675 (GRCm39) |
I954T |
probably damaging |
Het |
| Usp20 |
T |
C |
2: 30,900,343 (GRCm39) |
S286P |
possibly damaging |
Het |
|
| Other mutations in Mfsd4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00422:Mfsd4a
|
APN |
1 |
131,968,332 (GRCm39) |
missense |
probably benign |
0.34 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAGCAGCTGAGTGTTCAAC -3'
(R):5'- CCTAAGAAACTGCTCGCTTCTC -3'
Sequencing Primer
(F):5'- TGTTCAACACACAGTGCTGG -3'
(R):5'- AAGAAACTGCTCGCTTCTCTCTGG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation