Incidental Mutation 'R1283:Mfsd12'
| ID |
151091 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd12
|
| Ensembl Gene |
ENSMUSG00000034854 |
| Gene Name |
major facilitator superfamily domain containing 12 |
| Synonyms |
gr, F630110N24Rik, Wdt1 |
| MMRRC Submission |
039349-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.594)
|
| Stock # |
R1283 (G1)
|
| Quality Score |
190 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
81193325-81202059 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 81197269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 254
(V254A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020456]
[ENSMUST00000044844]
[ENSMUST00000132368]
[ENSMUST00000140901]
|
| AlphaFold |
Q3U481 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020456
|
| SMART Domains |
Protein: ENSMUSP00000020456
Gene: ENSMUSG00000020234
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4531
|
23 |
204 |
1.3e-113 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044844
AA Change: V254A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000036116
Gene: ENSMUSG00000034854
AA Change: V254A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:MFS_2
|
20 |
423 |
5.2e-43 |
PFAM |
|
Pfam:MFS_1
|
154 |
416 |
6.8e-12 |
PFAM |
|
transmembrane domain
|
441 |
463 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
476 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124512
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130762
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131736
|
| SMART Domains |
Protein: ENSMUSP00000123068
Gene: ENSMUSG00000020234
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4531
|
1 |
128 |
2.6e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132368
|
| SMART Domains |
Protein: ENSMUSP00000120259
Gene: ENSMUSG00000034854
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:MFS_2
|
20 |
102 |
3.7e-11 |
PFAM |
|
low complexity region
|
118 |
124 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140901
|
| SMART Domains |
Protein: ENSMUSP00000114203
Gene: ENSMUSG00000020235
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
172 |
213 |
1e-19 |
BLAST |
|
WD40
|
218 |
257 |
1.2e-2 |
SMART |
|
WD40
|
260 |
297 |
6.79e-2 |
SMART |
|
WD40
|
302 |
341 |
3.99e-8 |
SMART |
|
WD40
|
344 |
386 |
2.84e-4 |
SMART |
|
WD40
|
389 |
429 |
1.98e1 |
SMART |
|
WD40
|
432 |
471 |
1.11e-6 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit a grey (grizzled) coat. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
T |
A |
2: 25,336,701 (GRCm39) |
I2269N |
probably damaging |
Het |
| Ap4b1 |
T |
A |
3: 103,726,177 (GRCm39) |
V251E |
probably damaging |
Het |
| Btn2a2 |
A |
G |
13: 23,663,002 (GRCm39) |
V316A |
probably damaging |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Fdxacb1 |
A |
G |
9: 50,679,994 (GRCm39) |
E60G |
possibly damaging |
Het |
| Gins3 |
A |
G |
8: 96,364,574 (GRCm39) |
D108G |
probably damaging |
Het |
| Gsdmc2 |
T |
C |
15: 63,696,906 (GRCm39) |
I422V |
probably damaging |
Het |
| Impg2 |
TACCACCACCACCACCACCACCACCA |
TACCACCACCACCACCACCACCA |
16: 56,078,302 (GRCm39) |
|
probably benign |
Het |
| Lamb2 |
A |
G |
9: 108,359,007 (GRCm39) |
N241S |
possibly damaging |
Het |
| Mgst3 |
A |
G |
1: 167,205,865 (GRCm39) |
V38A |
possibly damaging |
Het |
| Myh13 |
A |
T |
11: 67,261,747 (GRCm39) |
E1890V |
probably damaging |
Het |
| Or52n20 |
A |
G |
7: 104,320,150 (GRCm39) |
I80M |
possibly damaging |
Het |
| Rab11fip3 |
G |
T |
17: 26,223,528 (GRCm39) |
D800E |
probably damaging |
Het |
| Scn8a |
T |
C |
15: 100,867,052 (GRCm39) |
I286T |
possibly damaging |
Het |
| Slc25a44 |
T |
C |
3: 88,327,885 (GRCm39) |
Y183C |
probably damaging |
Het |
| Tmem170b |
T |
C |
13: 41,781,471 (GRCm39) |
F39L |
possibly damaging |
Het |
| Trpt1 |
T |
A |
19: 6,975,696 (GRCm39) |
L150* |
probably null |
Het |
|
| Other mutations in Mfsd12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01556:Mfsd12
|
APN |
10 |
81,198,858 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01928:Mfsd12
|
APN |
10 |
81,201,622 (GRCm39) |
unclassified |
probably benign |
|
|
P0038:Mfsd12
|
UTSW |
10 |
81,198,052 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0048:Mfsd12
|
UTSW |
10 |
81,198,648 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0048:Mfsd12
|
UTSW |
10 |
81,198,648 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0152:Mfsd12
|
UTSW |
10 |
81,193,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0317:Mfsd12
|
UTSW |
10 |
81,193,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0565:Mfsd12
|
UTSW |
10 |
81,197,243 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1927:Mfsd12
|
UTSW |
10 |
81,197,921 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1983:Mfsd12
|
UTSW |
10 |
81,198,090 (GRCm39) |
splice site |
probably null |
|
|
R1994:Mfsd12
|
UTSW |
10 |
81,193,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1995:Mfsd12
|
UTSW |
10 |
81,193,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2055:Mfsd12
|
UTSW |
10 |
81,196,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2197:Mfsd12
|
UTSW |
10 |
81,193,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3120:Mfsd12
|
UTSW |
10 |
81,197,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4162:Mfsd12
|
UTSW |
10 |
81,196,931 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4163:Mfsd12
|
UTSW |
10 |
81,196,931 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4417:Mfsd12
|
UTSW |
10 |
81,200,537 (GRCm39) |
unclassified |
probably benign |
|
|
R5622:Mfsd12
|
UTSW |
10 |
81,199,461 (GRCm39) |
missense |
probably null |
0.98 |
|
R6407:Mfsd12
|
UTSW |
10 |
81,198,067 (GRCm39) |
splice site |
probably null |
|
|
R7759:Mfsd12
|
UTSW |
10 |
81,199,427 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7780:Mfsd12
|
UTSW |
10 |
81,193,718 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9198:Mfsd12
|
UTSW |
10 |
81,198,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9566:Mfsd12
|
UTSW |
10 |
81,196,962 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGGACTCTACGTGTGCTAAGGC -3'
(R):5'- TGGGAGTGAAGTGACATCTACCCTG -3'
Sequencing Primer
(F):5'- ctcacctctaggtatgcgttc -3'
(R):5'- TGACATCTACCCTGAGCATGG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation