Incidental Mutation 'IGL01957:Mfsd4b4'
| ID |
181123 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mfsd4b4
|
| Ensembl Gene |
ENSMUSG00000096687 |
| Gene Name |
major facilitator superfamily domain containing 4B4 |
| Synonyms |
AA474331 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
IGL01957
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
39766009-39775202 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 39768025 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 356
(M356K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137516
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178045]
[ENSMUST00000178563]
|
| AlphaFold |
J3QNS5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178045
AA Change: M402K
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136934
Gene: ENSMUSG00000096687
AA Change: M402K
| 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 damaging
Transcript: ENSMUST00000178563
AA Change: M356K
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000137516
Gene: ENSMUSG00000096687
AA Change: M356K
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030469F06Rik |
T |
C |
12: 31,235,042 (GRCm39) |
|
noncoding transcript |
Het |
| Cops3 |
A |
G |
11: 59,712,217 (GRCm39) |
|
probably benign |
Het |
| Cyth2 |
A |
T |
7: 45,457,805 (GRCm39) |
Y304N |
probably benign |
Het |
| Dhx8 |
A |
G |
11: 101,645,652 (GRCm39) |
N837S |
possibly damaging |
Het |
| Evpl |
A |
G |
11: 116,114,048 (GRCm39) |
L1214P |
probably damaging |
Het |
| Gm94 |
A |
G |
18: 43,917,746 (GRCm39) |
S40P |
probably damaging |
Het |
| Gpm6a |
A |
T |
8: 55,503,212 (GRCm39) |
M154L |
probably benign |
Het |
| Ipo13 |
A |
G |
4: 117,761,078 (GRCm39) |
S547P |
probably damaging |
Het |
| Mfsd14b |
A |
C |
13: 65,234,907 (GRCm39) |
V90G |
possibly damaging |
Het |
| Msh6 |
T |
G |
17: 88,292,519 (GRCm39) |
F425V |
possibly damaging |
Het |
| Or4k15c |
T |
C |
14: 50,321,737 (GRCm39) |
T134A |
probably benign |
Het |
| Or52m2 |
A |
T |
7: 102,263,546 (GRCm39) |
L217I |
probably damaging |
Het |
| Or6c215 |
A |
G |
10: 129,638,119 (GRCm39) |
Y92H |
probably damaging |
Het |
| Ptk2 |
T |
C |
15: 73,114,322 (GRCm39) |
I679V |
probably benign |
Het |
| Rtel1 |
T |
C |
2: 180,991,106 (GRCm39) |
|
probably benign |
Het |
| Sema3d |
T |
A |
5: 12,613,282 (GRCm39) |
V453E |
probably damaging |
Het |
| Spata31e2 |
C |
T |
1: 26,724,340 (GRCm39) |
C280Y |
probably damaging |
Het |
| Syk |
C |
A |
13: 52,785,776 (GRCm39) |
D327E |
probably benign |
Het |
| Triobp |
G |
A |
15: 78,856,847 (GRCm39) |
|
probably null |
Het |
| Tubgcp5 |
G |
A |
7: 55,468,505 (GRCm39) |
E667K |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r76 |
G |
T |
7: 85,877,925 (GRCm39) |
H491N |
probably benign |
Het |
|
| Other mutations in Mfsd4b4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R0771:Mfsd4b4
|
UTSW |
10 |
39,768,407 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation