Incidental Mutation 'R8675:Mfsd4a'
| ID |
661326 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd4a
|
| Ensembl Gene |
ENSMUSG00000059149 |
| Gene Name |
major facilitator superfamily domain containing 4A |
| Synonyms |
A930031D07Rik, Mfsd4 |
| MMRRC Submission |
068530-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R8675 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
131950544-131995800 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 131986926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 134
(Y134C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107989
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046658]
[ENSMUST00000112365]
[ENSMUST00000112370]
[ENSMUST00000126927]
[ENSMUST00000144548]
[ENSMUST00000146267]
[ENSMUST00000159038]
[ENSMUST00000160656]
[ENSMUST00000161864]
|
| AlphaFold |
Q6PDC8 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000046658
AA Change: Y134C
|
| SMART Domains |
Protein: ENSMUSP00000039635
Gene: ENSMUSG00000059149
AA Change: Y134C
| 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 damaging
Transcript: ENSMUST00000112365
AA Change: Y134C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107984
Gene: ENSMUSG00000059149
AA Change: Y134C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
21 |
430 |
1.3e-14 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112370
AA Change: Y134C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107989
Gene: ENSMUSG00000059149
AA Change: Y134C
| 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 damaging
Transcript: ENSMUST00000126927
AA Change: Y134C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116706
Gene: ENSMUSG00000059149
AA Change: Y134C
| 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 damaging
Transcript: ENSMUST00000144548
AA Change: Y134C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116282
Gene: ENSMUSG00000059149
AA Change: Y134C
| 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 damaging
Transcript: ENSMUST00000159038
AA Change: Y134C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125558
Gene: ENSMUSG00000059149
AA Change: Y134C
| 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 damaging
Transcript: ENSMUST00000160656
AA Change: Y112C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125138
Gene: ENSMUSG00000059149
AA Change: Y112C
| 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 |
probably damaging
Transcript: ENSMUST00000161864
AA Change: Y134C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124961
Gene: ENSMUSG00000059149
AA Change: Y134C
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
G |
T |
17: 48,400,849 (GRCm39) |
E45* |
probably null |
Het |
| Abl2 |
T |
C |
1: 156,452,909 (GRCm39) |
V148A |
probably damaging |
Het |
| Cacng7 |
G |
A |
7: 3,385,221 (GRCm39) |
V41I |
probably benign |
Het |
| Clrn3 |
A |
G |
7: 135,115,880 (GRCm39) |
S157P |
possibly damaging |
Het |
| Dsg2 |
T |
A |
18: 20,734,975 (GRCm39) |
N984K |
possibly damaging |
Het |
| Fam83e |
A |
G |
7: 45,373,293 (GRCm39) |
T220A |
probably benign |
Het |
| Frk |
A |
G |
10: 34,484,493 (GRCm39) |
T489A |
probably benign |
Het |
| Gigyf2 |
T |
A |
1: 87,331,438 (GRCm39) |
H195Q |
unknown |
Het |
| Gm49380 |
C |
T |
9: 44,023,187 (GRCm39) |
A354T |
probably benign |
Het |
| Igfbpl1 |
T |
C |
4: 45,813,469 (GRCm39) |
T249A |
possibly damaging |
Het |
| Il17ra |
T |
A |
6: 120,458,949 (GRCm39) |
M700K |
probably benign |
Het |
| Il20 |
A |
T |
1: 130,835,172 (GRCm39) |
W171R |
probably damaging |
Het |
| Mis12 |
A |
G |
11: 70,916,500 (GRCm39) |
S178G |
probably benign |
Het |
| Pcdh1 |
A |
G |
18: 38,332,229 (GRCm39) |
V397A |
probably damaging |
Het |
| Pcsk4 |
T |
C |
10: 80,158,896 (GRCm39) |
Y499C |
probably damaging |
Het |
| Pgbd1 |
A |
G |
13: 21,607,183 (GRCm39) |
L337P |
probably damaging |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Pih1d1 |
A |
G |
7: 44,803,806 (GRCm39) |
K22E |
unknown |
Het |
| Pkd1l1 |
A |
G |
11: 8,798,916 (GRCm39) |
|
probably null |
Het |
| Pld2 |
A |
G |
11: 70,445,713 (GRCm39) |
D649G |
probably null |
Het |
| Ralgapa1 |
T |
C |
12: 55,785,002 (GRCm39) |
T753A |
possibly damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,547,782 (GRCm39) |
L141M |
probably damaging |
Het |
| Rasgrp4 |
G |
A |
7: 28,842,452 (GRCm39) |
G242D |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,346,984 (GRCm39) |
S3682P |
|
Het |
| Scnn1b |
A |
G |
7: 121,498,474 (GRCm39) |
K5E |
probably damaging |
Het |
| Smbd1 |
T |
C |
16: 32,625,340 (GRCm39) |
*142W |
probably null |
Het |
| Snrnp200 |
A |
G |
2: 127,074,443 (GRCm39) |
T1428A |
possibly damaging |
Het |
| Speer1b |
C |
T |
5: 11,823,973 (GRCm39) |
R174* |
probably null |
Het |
| Spire1 |
T |
C |
18: 67,624,378 (GRCm39) |
T594A |
possibly damaging |
Het |
| Spta1 |
A |
G |
1: 174,058,249 (GRCm39) |
T1906A |
probably benign |
Het |
| Stx16 |
T |
C |
2: 173,934,255 (GRCm39) |
S152P |
probably benign |
Het |
| Tcp11 |
T |
A |
17: 28,288,565 (GRCm39) |
Q331L |
probably benign |
Het |
| Tmem106a |
T |
A |
11: 101,481,222 (GRCm39) |
Y243* |
probably null |
Het |
| Tmem268 |
C |
T |
4: 63,502,108 (GRCm39) |
T312M |
probably damaging |
Het |
| Ttc9 |
T |
G |
12: 81,707,379 (GRCm39) |
V146G |
probably damaging |
Het |
| Ubr3 |
T |
A |
2: 69,850,865 (GRCm39) |
I1758N |
probably damaging |
Het |
| Unc13a |
G |
A |
8: 72,098,359 (GRCm39) |
T1142I |
probably benign |
Het |
| Vipr1 |
T |
C |
9: 121,493,732 (GRCm39) |
L261P |
probably damaging |
Het |
| Vmn1r222 |
A |
T |
13: 23,416,607 (GRCm39) |
V202E |
probably damaging |
Het |
| Zfp78 |
A |
G |
7: 6,381,280 (GRCm39) |
N110S |
probably benign |
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 |
|
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 |
|
R9668:Mfsd4a
|
UTSW |
1 |
131,969,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCACCCCTGGAGAGATGAG -3'
(R):5'- CTGGTAGCAAAGCAATGGC -3'
Sequencing Primer
(F):5'- CCCTGGAGAGATGAGGAAACCC -3'
(R):5'- TTCCAGGAAGGCTCTGGG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation