Incidental Mutation 'R2194:Mfsd4b4'
| ID |
238295 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd4b4
|
| Ensembl Gene |
ENSMUSG00000096687 |
| Gene Name |
major facilitator superfamily domain containing 4B4 |
| Synonyms |
AA474331 |
| MMRRC Submission |
040196-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R2194 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
39766009-39775202 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 39768919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 104
(N104I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136934
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178045]
[ENSMUST00000178563]
|
| AlphaFold |
J3QNS5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178045
AA Change: N104I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000136934
Gene: ENSMUSG00000096687
AA Change: N104I
| 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: N58I
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137516
Gene: ENSMUSG00000096687
AA Change: N58I
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdh2 |
T |
C |
18: 16,773,505 (GRCm39) |
T275A |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Fkbp5 |
T |
C |
17: 28,657,001 (GRCm39) |
D72G |
probably benign |
Het |
| Gm8104 |
T |
C |
14: 42,959,017 (GRCm39) |
M69T |
possibly damaging |
Het |
| Greb1 |
T |
C |
12: 16,740,909 (GRCm39) |
E1391G |
probably benign |
Het |
| Hif1a |
A |
G |
12: 73,977,521 (GRCm39) |
N183S |
probably damaging |
Het |
| Hnrnpul1 |
A |
G |
7: 25,425,347 (GRCm39) |
|
probably null |
Het |
| Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
| Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
| Ighmbp2 |
T |
C |
19: 3,315,116 (GRCm39) |
D768G |
probably benign |
Het |
| Kitl |
T |
G |
10: 99,851,899 (GRCm39) |
|
probably null |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or2t49 |
T |
C |
11: 58,392,468 (GRCm39) |
K305E |
probably damaging |
Het |
| Pcdhb4 |
T |
C |
18: 37,441,788 (GRCm39) |
V366A |
probably damaging |
Het |
| Polb |
C |
T |
8: 23,137,483 (GRCm39) |
R89H |
probably benign |
Het |
| Rfc4 |
TTTGTTGTTGTTG |
TTTGTTGTTG |
16: 22,932,902 (GRCm39) |
|
probably benign |
Het |
| Rnf40 |
C |
A |
7: 127,196,407 (GRCm39) |
A785D |
probably damaging |
Het |
| St7 |
A |
G |
6: 17,942,718 (GRCm39) |
E494G |
probably damaging |
Het |
| Tnks1bp1 |
A |
G |
2: 84,893,409 (GRCm39) |
E1112G |
probably benign |
Het |
| Zfp607a |
A |
G |
7: 27,578,805 (GRCm39) |
E625G |
possibly damaging |
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 |
|
|
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 |
|
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'- TGGCTTCAAAGGATTGGTTCAAG -3'
(R):5'- TAGAGGGGCAGTGGTTTACC -3'
Sequencing Primer
(F):5'- ATTGGTTCAAGGCTAAACGGTC -3'
(R):5'- AGATTCTGTATGTTAGGAGGAGATGC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation