Incidental Mutation 'R0771:Mfsd4b4'
| ID |
76957 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd4b4
|
| Ensembl Gene |
ENSMUSG00000096687 |
| Gene Name |
major facilitator superfamily domain containing 4B4 |
| Synonyms |
AA474331 |
| MMRRC Submission |
038951-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R0771 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
39766009-39775202 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39768407 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 275
(T275A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136934
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178045]
[ENSMUST00000178563]
|
| AlphaFold |
J3QNS5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178045
AA Change: T275A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000136934
Gene: ENSMUSG00000096687
AA Change: T275A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
4 |
368 |
3e-14 |
PFAM |
|
transmembrane domain
|
381 |
403 |
N/A |
INTRINSIC |
|
low complexity region
|
431 |
449 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178563
AA Change: T229A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000137516
Gene: ENSMUSG00000096687
AA Change: T229A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
30 |
N/A |
INTRINSIC |
|
transmembrane domain
|
40 |
62 |
N/A |
INTRINSIC |
|
transmembrane domain
|
75 |
97 |
N/A |
INTRINSIC |
|
transmembrane domain
|
134 |
156 |
N/A |
INTRINSIC |
|
transmembrane domain
|
182 |
204 |
N/A |
INTRINSIC |
|
transmembrane domain
|
245 |
267 |
N/A |
INTRINSIC |
|
transmembrane domain
|
274 |
296 |
N/A |
INTRINSIC |
|
transmembrane domain
|
306 |
328 |
N/A |
INTRINSIC |
|
transmembrane domain
|
335 |
357 |
N/A |
INTRINSIC |
|
low complexity region
|
385 |
403 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abr |
T |
C |
11: 76,346,509 (GRCm39) |
E434G |
probably damaging |
Het |
| Adam19 |
G |
A |
11: 46,012,280 (GRCm39) |
V259I |
possibly damaging |
Het |
| Adam5 |
A |
G |
8: 25,276,315 (GRCm39) |
S451P |
probably benign |
Het |
| Chd6 |
G |
A |
2: 160,861,500 (GRCm39) |
L516F |
probably damaging |
Het |
| Elovl4 |
A |
G |
9: 83,667,168 (GRCm39) |
V154A |
possibly damaging |
Het |
| Gadl1 |
G |
A |
9: 115,773,300 (GRCm39) |
R114Q |
probably damaging |
Het |
| Ipo13 |
T |
C |
4: 117,751,843 (GRCm39) |
N936S |
possibly damaging |
Het |
| Kcnd2 |
T |
A |
6: 21,216,441 (GRCm39) |
S48R |
probably damaging |
Het |
| Lgalsl2 |
A |
G |
7: 5,362,822 (GRCm39) |
D151G |
probably damaging |
Het |
| Lim2 |
C |
A |
7: 43,080,127 (GRCm39) |
A38E |
possibly damaging |
Het |
| Lrp2 |
A |
T |
2: 69,338,334 (GRCm39) |
D1177E |
probably damaging |
Het |
| Mdh1 |
C |
T |
11: 21,507,550 (GRCm39) |
V300I |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,778,264 (GRCm39) |
Y114C |
probably damaging |
Het |
| Ncapg2 |
T |
A |
12: 116,376,779 (GRCm39) |
C122* |
probably null |
Het |
| Nod1 |
T |
G |
6: 54,921,254 (GRCm39) |
S355R |
probably damaging |
Het |
| Or52x1 |
T |
A |
7: 104,853,368 (GRCm39) |
M61L |
possibly damaging |
Het |
| Or5ap2 |
A |
T |
2: 85,680,338 (GRCm39) |
I181F |
possibly damaging |
Het |
| Pcsk1 |
A |
T |
13: 75,280,281 (GRCm39) |
E702V |
probably benign |
Het |
| Ptpn21 |
T |
C |
12: 98,655,339 (GRCm39) |
T543A |
probably damaging |
Het |
| Ranbp9 |
T |
C |
13: 43,615,249 (GRCm39) |
I190V |
possibly damaging |
Het |
| Sirpd |
T |
A |
3: 15,385,506 (GRCm39) |
Q132L |
probably benign |
Het |
| Slc1a4 |
C |
T |
11: 20,256,467 (GRCm39) |
V455M |
probably damaging |
Het |
| Srbd1 |
T |
A |
17: 86,437,682 (GRCm39) |
E220D |
probably benign |
Het |
| Thsd7a |
A |
G |
6: 12,327,576 (GRCm39) |
V1432A |
probably benign |
Het |
| Zfp61 |
T |
C |
7: 23,992,779 (GRCm39) |
R71G |
probably benign |
Het |
|
| Other mutations in Mfsd4b4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01957:Mfsd4b4
|
APN |
10 |
39,768,025 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03069:Mfsd4b4
|
APN |
10 |
39,768,311 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0057:Mfsd4b4
|
UTSW |
10 |
39,891,097 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R1411:Mfsd4b4
|
UTSW |
10 |
39,768,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1472:Mfsd4b4
|
UTSW |
10 |
39,767,860 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1927:Mfsd4b4
|
UTSW |
10 |
39,768,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2194:Mfsd4b4
|
UTSW |
10 |
39,768,919 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3748:Mfsd4b4
|
UTSW |
10 |
39,770,132 (GRCm39) |
splice site |
probably benign |
|
|
R5172:Mfsd4b4
|
UTSW |
10 |
39,770,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5281:Mfsd4b4
|
UTSW |
10 |
39,768,467 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5771:Mfsd4b4
|
UTSW |
10 |
39,768,635 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5975:Mfsd4b4
|
UTSW |
10 |
39,768,466 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6066:Mfsd4b4
|
UTSW |
10 |
39,768,049 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6954:Mfsd4b4
|
UTSW |
10 |
39,767,948 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7042:Mfsd4b4
|
UTSW |
10 |
39,768,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7774:Mfsd4b4
|
UTSW |
10 |
39,768,407 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8271:Mfsd4b4
|
UTSW |
10 |
39,768,101 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Mfsd4b4
|
UTSW |
10 |
39,768,595 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCCATACACAGAAGTCGCTATCC -3'
(R):5'- TTCGCAGTACCCGATGACATGAATC -3'
Sequencing Primer
(F):5'- TCGCTATCCAGAGACAAAGAG -3'
(R):5'- CCGATGACATGAATCTGCTG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation