Incidental Mutation 'R4330:Mfsd4a'
| ID |
324558 |
| Institutional Source |
Beutler Lab
|
| 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: 0.055)
|
| Stock # |
R4330 (G1)
|
| Quality Score |
223 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
131950544-131995800 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 131981291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 320
(M320R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107984
(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
|
| SMART Domains |
Protein: ENSMUSP00000039635
Gene: ENSMUSG00000059149
| 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 |
possibly damaging
Transcript: ENSMUST00000112365
AA Change: M320R
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000107984
Gene: ENSMUSG00000059149
AA Change: M320R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
21 |
430 |
1.3e-14 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112370
AA Change: M320R
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000107989
Gene: ENSMUSG00000059149
AA Change: M320R
| 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 |
possibly damaging
Transcript: ENSMUST00000126927
AA Change: M320R
PolyPhen 2
Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000116706
Gene: ENSMUSG00000059149
AA Change: M320R
| 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 |
possibly damaging
Transcript: ENSMUST00000144548
AA Change: M320R
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000116282
Gene: ENSMUSG00000059149
AA Change: M320R
| 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 |
possibly damaging
Transcript: ENSMUST00000159038
AA Change: M320R
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000125558
Gene: ENSMUSG00000059149
AA Change: M320R
| 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: M236R
PolyPhen 2
Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000124961
Gene: ENSMUSG00000059149
AA Change: M236R
| 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: M214R
PolyPhen 2
Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000125138
Gene: ENSMUSG00000059149
AA Change: M214R
| 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 |
probably benign
Transcript: ENSMUST00000162628
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
A |
8: 44,079,287 (GRCm39) |
K312N |
probably benign |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Cdh10 |
G |
A |
15: 19,000,045 (GRCm39) |
V497I |
probably damaging |
Het |
| Chd4 |
T |
C |
6: 125,078,565 (GRCm39) |
V229A |
probably benign |
Het |
| Cnr2 |
T |
A |
4: 135,644,237 (GRCm39) |
I105N |
possibly damaging |
Het |
| Dnai1 |
A |
G |
4: 41,637,966 (GRCm39) |
T701A |
probably damaging |
Het |
| Eri1 |
G |
A |
8: 35,936,383 (GRCm39) |
R313* |
probably null |
Het |
| Hrh3 |
T |
C |
2: 179,741,665 (GRCm39) |
|
probably benign |
Het |
| Hs3st5 |
T |
A |
10: 36,708,726 (GRCm39) |
V87D |
probably benign |
Het |
| Jmy |
G |
C |
13: 93,635,390 (GRCm39) |
P142R |
probably damaging |
Het |
| Jmy |
C |
A |
13: 93,635,781 (GRCm39) |
D12Y |
probably damaging |
Het |
| Myocd |
A |
T |
11: 65,114,590 (GRCm39) |
H49Q |
probably benign |
Het |
| Nlk |
A |
G |
11: 78,481,774 (GRCm39) |
I229T |
possibly damaging |
Het |
| Rabl2 |
T |
C |
15: 89,471,137 (GRCm39) |
D66G |
probably benign |
Het |
| Ramp1 |
C |
T |
1: 91,151,067 (GRCm39) |
T144I |
possibly damaging |
Het |
| Rhbdf2 |
T |
C |
11: 116,492,782 (GRCm39) |
K413R |
probably benign |
Het |
| Scpep1 |
G |
A |
11: 88,826,729 (GRCm39) |
Q236* |
probably null |
Het |
| Stil |
A |
G |
4: 114,862,176 (GRCm39) |
R40G |
probably damaging |
Het |
| Syt7 |
T |
C |
19: 10,399,162 (GRCm39) |
V86A |
probably damaging |
Het |
| Ubr2 |
A |
T |
17: 47,278,204 (GRCm39) |
L711Q |
probably null |
Het |
| Vmn1r78 |
T |
A |
7: 11,886,386 (GRCm39) |
|
probably null |
Het |
| Zfp280d |
C |
T |
9: 72,203,261 (GRCm39) |
T3I |
possibly damaging |
Het |
| Zscan25 |
T |
A |
5: 145,227,361 (GRCm39) |
F342I |
probably 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 |
|
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 |
|
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'- TGGGTCACGTAGAATTGGGAAC -3'
(R):5'- TGCCTGGAAGCTAGAGGAATTG -3'
Sequencing Primer
(F):5'- AGTCCTGACTCTAGGGCTG -3'
(R):5'- TGTCCGGCCTGGGTGAAC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation