Incidental Mutation 'R6407:Mfsd12'
| ID |
514503 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd12
|
| Ensembl Gene |
ENSMUSG00000034854 |
| Gene Name |
major facilitator superfamily domain containing 12 |
| Synonyms |
gr, F630110N24Rik, Wdt1 |
| MMRRC Submission |
044552-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.594)
|
| Stock # |
R6407 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
81193325-81202059 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3989 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 81198067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114203
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020456]
[ENSMUST00000020457]
[ENSMUST00000044844]
[ENSMUST00000132368]
[ENSMUST00000140901]
|
| AlphaFold |
Q3U481 |
| Predicted Effect |
probably null
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: M316T
PolyPhen 2
Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000036116
Gene: ENSMUSG00000034854
AA Change: M316T
| 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 null
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 null
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 |
0.5768 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
100% (36/36) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
T |
C |
18: 65,422,809 (GRCm39) |
Y1963C |
probably benign |
Het |
| Bptf |
T |
A |
11: 107,001,952 (GRCm39) |
N387Y |
probably damaging |
Het |
| C1ql2 |
T |
C |
1: 120,269,340 (GRCm39) |
L165P |
probably damaging |
Het |
| Col5a2 |
C |
A |
1: 45,415,938 (GRCm39) |
C1403F |
probably damaging |
Het |
| Gab1 |
C |
A |
8: 81,515,226 (GRCm39) |
R364L |
possibly damaging |
Het |
| Htr3a |
G |
T |
9: 48,812,355 (GRCm39) |
Y250* |
probably null |
Het |
| Ighg2c |
T |
C |
12: 113,252,271 (GRCm39) |
K94E |
unknown |
Het |
| Ighg3 |
T |
C |
12: 113,323,770 (GRCm39) |
N206S |
unknown |
Het |
| Il36rn |
A |
G |
2: 24,171,365 (GRCm39) |
Y151C |
probably damaging |
Het |
| Kif22 |
G |
A |
7: 126,632,375 (GRCm39) |
R312C |
probably damaging |
Het |
| Lap3 |
T |
A |
5: 45,669,267 (GRCm39) |
V472E |
probably damaging |
Het |
| Mast3 |
T |
C |
8: 71,234,772 (GRCm39) |
T762A |
probably benign |
Het |
| Mrpl39 |
T |
C |
16: 84,529,273 (GRCm39) |
K123R |
probably benign |
Het |
| Mup8 |
T |
A |
4: 60,220,394 (GRCm39) |
T113S |
possibly damaging |
Het |
| Nhp2 |
T |
C |
11: 51,510,730 (GRCm39) |
V29A |
probably benign |
Het |
| Or14a260 |
T |
C |
7: 85,985,277 (GRCm39) |
E109G |
possibly damaging |
Het |
| Pex3 |
T |
C |
10: 13,422,112 (GRCm39) |
R63G |
probably damaging |
Het |
| Pfkl |
A |
G |
10: 77,824,507 (GRCm39) |
|
probably null |
Het |
| Rims2 |
T |
C |
15: 39,315,724 (GRCm39) |
S617P |
probably damaging |
Het |
| Rnf223 |
A |
T |
4: 156,216,816 (GRCm39) |
T64S |
probably damaging |
Het |
| Rrp12 |
C |
T |
19: 41,872,181 (GRCm39) |
V432M |
probably damaging |
Het |
| Sag |
T |
C |
1: 87,742,528 (GRCm39) |
V100A |
probably benign |
Het |
| Slc17a7 |
C |
T |
7: 44,819,350 (GRCm39) |
A167V |
probably benign |
Het |
| Slc38a6 |
T |
C |
12: 73,356,949 (GRCm39) |
F115S |
probably damaging |
Het |
| Spata31h1 |
A |
G |
10: 82,129,645 (GRCm39) |
S1122P |
probably benign |
Het |
| Spdye4a |
T |
C |
5: 143,211,454 (GRCm39) |
T37A |
probably benign |
Het |
| Sphk2 |
T |
C |
7: 45,362,024 (GRCm39) |
T138A |
possibly damaging |
Het |
| Srgap3 |
T |
C |
6: 112,699,967 (GRCm39) |
S1004G |
probably damaging |
Het |
| Sult1a1 |
T |
C |
7: 126,272,356 (GRCm39) |
|
probably null |
Het |
| Tmem212 |
A |
G |
3: 27,938,988 (GRCm39) |
V166A |
probably benign |
Het |
| Tor4a |
A |
G |
2: 25,084,952 (GRCm39) |
L317P |
probably benign |
Het |
| Trim43c |
A |
T |
9: 88,722,467 (GRCm39) |
T38S |
probably benign |
Het |
| Tshz1 |
C |
A |
18: 84,034,091 (GRCm39) |
V106F |
possibly damaging |
Het |
| Tut4 |
G |
T |
4: 108,415,979 (GRCm39) |
E1648D |
probably damaging |
Het |
| Yap1 |
A |
G |
9: 7,962,373 (GRCm39) |
M225T |
possibly damaging |
Het |
| Zfp74 |
T |
C |
7: 29,635,048 (GRCm39) |
E220G |
probably damaging |
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 |
|
R1283:Mfsd12
|
UTSW |
10 |
81,197,269 (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 |
|
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'- TGTGAACCTGTCTCAGACCTAC -3'
(R):5'- GGTAAGCAGTCTGAACACTCC -3'
Sequencing Primer
(F):5'- AGACCTACATTGCCATGTACCTG -3'
(R):5'- GCACCTGTCACTCACATT -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation