Incidental Mutation 'R0048:Mfsd12'
| ID |
201291 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd12
|
| Ensembl Gene |
ENSMUSG00000034854 |
| Gene Name |
major facilitator superfamily domain containing 12 |
| Synonyms |
Wdt1, F630110N24Rik |
| MMRRC Submission |
038342-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.593)
|
| Stock # |
R0048 (G1)
|
| Quality Score |
35 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
81357491-81366225 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 81362814 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 380
(V380I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020456]
[ENSMUST00000020457]
[ENSMUST00000044844]
[ENSMUST00000118812]
[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: ENSMUST00000020457
|
| SMART Domains |
Protein: ENSMUSP00000020457
Gene: ENSMUSG00000020235
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
172 |
213 |
8e-21 |
BLAST |
|
WD40
|
218 |
257 |
1.2e-2 |
SMART |
|
WD40
|
260 |
297 |
6.79e-2 |
SMART |
|
WD40
|
302 |
341 |
3.55e-5 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044844
AA Change: V380I
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000036116
Gene: ENSMUSG00000034854
AA Change: V380I
| 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 |
probably benign
Transcript: ENSMUST00000118812
|
| SMART Domains |
Protein: ENSMUSP00000112868
Gene: ENSMUSG00000020235
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
129 |
168 |
5.6e-3 |
SMART |
|
WD40
|
171 |
208 |
6.79e-2 |
SMART |
|
WD40
|
213 |
252 |
3.99e-8 |
SMART |
|
WD40
|
255 |
297 |
2.84e-4 |
SMART |
|
WD40
|
300 |
340 |
1.98e1 |
SMART |
|
WD40
|
343 |
382 |
1.11e-6 |
SMART |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000138343
|
| 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 |
|
| Meta Mutation Damage Score |
0.0852 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.3%
|
| Validation Efficiency |
100% (37/37) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
A |
G |
1: 25,101,482 |
I299T |
probably benign |
Het |
| Ankrd12 |
A |
G |
17: 65,984,803 |
S1212P |
probably damaging |
Het |
| Ankrd50 |
A |
G |
3: 38,483,049 |
S52P |
probably benign |
Het |
| Brca1 |
A |
G |
11: 101,524,977 |
V777A |
possibly damaging |
Het |
| Dppa2 |
A |
G |
16: 48,317,398 |
M248V |
probably benign |
Het |
| Fat2 |
G |
T |
11: 55,310,039 |
H736Q |
probably benign |
Het |
| Fgfr2 |
A |
T |
7: 130,180,488 |
|
probably benign |
Het |
| Gif |
G |
A |
19: 11,749,756 |
V110M |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,428,237 |
S3865P |
possibly damaging |
Het |
| Iqgap3 |
A |
T |
3: 88,115,949 |
T516S |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,232,291 |
|
probably null |
Het |
| Lrrfip1 |
C |
T |
1: 91,093,647 |
|
probably benign |
Het |
| Mroh9 |
G |
A |
1: 163,062,487 |
T227M |
probably damaging |
Het |
| Mtor |
C |
T |
4: 148,538,881 |
Q2063* |
probably null |
Het |
| Nanos3 |
C |
T |
8: 84,176,134 |
R133Q |
probably damaging |
Het |
| Olfr273 |
C |
A |
4: 52,856,196 |
A106S |
probably damaging |
Het |
| Ptgfr |
A |
G |
3: 151,835,091 |
V260A |
possibly damaging |
Het |
| Raph1 |
T |
C |
1: 60,500,605 |
K423E |
probably benign |
Het |
| Rbm27 |
A |
G |
18: 42,298,464 |
D112G |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,595,784 |
E4052G |
probably damaging |
Het |
| Sart3 |
G |
T |
5: 113,755,397 |
D346E |
possibly damaging |
Het |
| Siglec1 |
T |
C |
2: 131,073,397 |
T1425A |
possibly damaging |
Het |
| Snx25 |
A |
T |
8: 46,105,109 |
|
probably benign |
Het |
| Son |
T |
A |
16: 91,658,977 |
H1537Q |
possibly damaging |
Het |
| Tgfb1 |
T |
A |
7: 25,694,354 |
|
probably benign |
Het |
| Umodl1 |
A |
T |
17: 30,968,477 |
N172Y |
probably damaging |
Het |
| Urah |
C |
T |
7: 140,836,752 |
T46I |
probably damaging |
Het |
| Usp8 |
C |
T |
2: 126,737,889 |
P353L |
probably damaging |
Het |
| Vamp2 |
A |
G |
11: 69,089,759 |
D51G |
possibly damaging |
Het |
| Vmn1r67 |
G |
A |
7: 10,446,866 |
G19E |
probably damaging |
Het |
| Wdr76 |
C |
T |
2: 121,535,419 |
|
probably benign |
Het |
| Wwox |
C |
A |
8: 114,439,830 |
P20Q |
probably damaging |
Het |
|
| Other mutations in Mfsd12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01556:Mfsd12
|
APN |
10 |
81363024 |
missense |
probably damaging |
0.98 |
|
IGL01928:Mfsd12
|
APN |
10 |
81365788 |
unclassified |
probably benign |
|
|
P0038:Mfsd12
|
UTSW |
10 |
81362218 |
missense |
probably benign |
0.02 |
|
R0048:Mfsd12
|
UTSW |
10 |
81362814 |
missense |
possibly damaging |
0.77 |
|
R0152:Mfsd12
|
UTSW |
10 |
81357799 |
missense |
probably damaging |
1.00 |
|
R0317:Mfsd12
|
UTSW |
10 |
81357799 |
missense |
probably damaging |
1.00 |
|
R0565:Mfsd12
|
UTSW |
10 |
81361409 |
missense |
probably benign |
0.00 |
|
R1283:Mfsd12
|
UTSW |
10 |
81361435 |
missense |
probably benign |
0.00 |
|
R1927:Mfsd12
|
UTSW |
10 |
81362087 |
missense |
probably benign |
0.15 |
|
R1983:Mfsd12
|
UTSW |
10 |
81362256 |
splice site |
probably null |
|
|
R1994:Mfsd12
|
UTSW |
10 |
81357681 |
missense |
probably damaging |
1.00 |
|
R1995:Mfsd12
|
UTSW |
10 |
81357681 |
missense |
probably damaging |
1.00 |
|
R2055:Mfsd12
|
UTSW |
10 |
81360229 |
missense |
probably damaging |
1.00 |
|
R2197:Mfsd12
|
UTSW |
10 |
81357734 |
missense |
probably damaging |
1.00 |
|
R3120:Mfsd12
|
UTSW |
10 |
81361215 |
missense |
probably benign |
0.00 |
|
R4162:Mfsd12
|
UTSW |
10 |
81361097 |
critical splice acceptor site |
probably null |
|
|
R4163:Mfsd12
|
UTSW |
10 |
81361097 |
critical splice acceptor site |
probably null |
|
|
R4417:Mfsd12
|
UTSW |
10 |
81364703 |
unclassified |
probably benign |
|
|
R5622:Mfsd12
|
UTSW |
10 |
81363627 |
missense |
probably null |
0.98 |
|
R6407:Mfsd12
|
UTSW |
10 |
81362233 |
splice site |
probably null |
|
|
R7759:Mfsd12
|
UTSW |
10 |
81363593 |
missense |
probably benign |
0.10 |
|
R7780:Mfsd12
|
UTSW |
10 |
81357884 |
missense |
probably benign |
0.19 |
|
R9198:Mfsd12
|
UTSW |
10 |
81362710 |
missense |
probably damaging |
1.00 |
|
R9566:Mfsd12
|
UTSW |
10 |
81361128 |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTACTGGGCTGAGGACCAGAGAG -3'
(R):5'- ACGAACTGCCCAAAGTAAGGAATGC -3'
Sequencing Primer
(F):5'- TCTCTGGTGCAGGGTGC -3'
(R):5'- TCTGCACAGCCATGACTG -3'
|
| Posted On |
2014-05-28 |
Incidental Mutation