Incidental Mutation 'R1138:Mfsd4b5'
| ID |
95304 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd4b5
|
| Ensembl Gene |
ENSMUSG00000038528 |
| Gene Name |
major facilitator superfamily domain containing 4B5 |
| Synonyms |
BC021785 |
| MMRRC Submission |
039211-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R1138 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
39834057-39862642 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 39851150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 35
(C35Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045524]
[ENSMUST00000073618]
[ENSMUST00000164566]
[ENSMUST00000170505]
[ENSMUST00000170579]
|
| AlphaFold |
E9PYY6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045524
AA Change: C55Y
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000040341
Gene: ENSMUSG00000038528
AA Change: C55Y
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
45 |
64 |
N/A |
INTRINSIC |
|
transmembrane domain
|
71 |
89 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073618
AA Change: C86Y
PolyPhen 2
Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000073304
Gene: ENSMUSG00000038528
AA Change: C86Y
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
39 |
61 |
N/A |
INTRINSIC |
|
transmembrane domain
|
76 |
95 |
N/A |
INTRINSIC |
|
transmembrane domain
|
102 |
120 |
N/A |
INTRINSIC |
|
transmembrane domain
|
124 |
141 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164566
AA Change: C86Y
PolyPhen 2
Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000130944
Gene: ENSMUSG00000038528
AA Change: C86Y
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
33 |
55 |
N/A |
INTRINSIC |
|
transmembrane domain
|
76 |
95 |
N/A |
INTRINSIC |
|
transmembrane domain
|
99 |
121 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170505
AA Change: C35Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170579
AA Change: C86Y
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126439
Gene: ENSMUSG00000038528
AA Change: C86Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
39 |
395 |
7.2e-15 |
PFAM |
|
Pfam:TrkH
|
170 |
325 |
1.4e-9 |
PFAM |
|
transmembrane domain
|
423 |
445 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,967,497 (GRCm39) |
N974K |
probably benign |
Het |
| Brd8dc |
C |
T |
18: 34,713,297 (GRCm39) |
V258I |
probably benign |
Het |
| Bub1b |
C |
T |
2: 118,453,570 (GRCm39) |
T467I |
probably benign |
Het |
| Bzw1 |
T |
C |
1: 58,440,545 (GRCm39) |
Y173H |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,670,140 (GRCm39) |
D526G |
probably benign |
Het |
| Dnajc22 |
AGACACT |
A |
15: 99,002,308 (GRCm39) |
|
probably benign |
Het |
| Dstyk |
A |
G |
1: 132,391,224 (GRCm39) |
N920S |
probably benign |
Het |
| Glra3 |
A |
G |
8: 56,542,011 (GRCm39) |
|
probably null |
Het |
| Hpgd |
G |
A |
8: 56,760,712 (GRCm39) |
M136I |
probably benign |
Het |
| Igfbp2 |
A |
G |
1: 72,888,257 (GRCm39) |
D133G |
probably damaging |
Het |
| Lin54 |
A |
G |
5: 100,591,993 (GRCm39) |
M642T |
probably damaging |
Het |
| Map7d1 |
T |
C |
4: 126,135,912 (GRCm39) |
T99A |
possibly damaging |
Het |
| Mycbp2 |
G |
T |
14: 103,412,262 (GRCm39) |
N2570K |
possibly damaging |
Het |
| Nr4a2 |
T |
C |
2: 57,002,391 (GRCm39) |
S21G |
probably damaging |
Het |
| Oacyl |
T |
A |
18: 65,858,521 (GRCm39) |
L209Q |
probably damaging |
Het |
| Or4c125 |
T |
C |
2: 89,170,434 (GRCm39) |
I71V |
probably benign |
Het |
| Pkd1 |
C |
A |
17: 24,805,006 (GRCm39) |
N3218K |
probably damaging |
Het |
| Scyl3 |
A |
G |
1: 163,761,234 (GRCm39) |
N46S |
possibly damaging |
Het |
| Sh2d3c |
G |
T |
2: 32,639,417 (GRCm39) |
R349L |
probably benign |
Het |
| Siae |
G |
A |
9: 37,553,988 (GRCm39) |
R366H |
probably damaging |
Het |
| Tmem108 |
T |
C |
9: 103,376,168 (GRCm39) |
N427S |
possibly damaging |
Het |
|
| Other mutations in Mfsd4b5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01411:Mfsd4b5
|
APN |
10 |
39,846,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1166:Mfsd4b5
|
UTSW |
10 |
39,846,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1668:Mfsd4b5
|
UTSW |
10 |
39,849,687 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1718:Mfsd4b5
|
UTSW |
10 |
39,851,199 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3977:Mfsd4b5
|
UTSW |
10 |
39,850,704 (GRCm39) |
intron |
probably benign |
|
|
R5015:Mfsd4b5
|
UTSW |
10 |
39,850,758 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5080:Mfsd4b5
|
UTSW |
10 |
39,846,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5191:Mfsd4b5
|
UTSW |
10 |
39,846,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6554:Mfsd4b5
|
UTSW |
10 |
39,862,428 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6706:Mfsd4b5
|
UTSW |
10 |
39,862,413 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7667:Mfsd4b5
|
UTSW |
10 |
39,850,796 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7750:Mfsd4b5
|
UTSW |
10 |
39,846,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8223:Mfsd4b5
|
UTSW |
10 |
39,846,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8854:Mfsd4b5
|
UTSW |
10 |
39,846,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9240:Mfsd4b5
|
UTSW |
10 |
39,851,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Mfsd4b5
|
UTSW |
10 |
39,862,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACTGACACGGGACAGTAGACTC -3'
(R):5'- GGCCTTAAAGTCACTCTCTGCCTTG -3'
Sequencing Primer
(F):5'- ACAGTAGACTCTGGCAAAGC -3'
(R):5'- GCCTTGTACCCACACCC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation