Incidental Mutation 'R4417:Mfsd12'
| ID |
326889 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd12
|
| Ensembl Gene |
ENSMUSG00000034854 |
| Gene Name |
major facilitator superfamily domain containing 12 |
| Synonyms |
gr, F630110N24Rik, Wdt1 |
| MMRRC Submission |
041138-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.594)
|
| Stock # |
R4417 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
81193325-81202059 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 81200537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114203
(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 |
probably benign
Transcript: ENSMUST00000044844
|
| SMART Domains |
Protein: ENSMUSP00000036116
Gene: ENSMUSG00000034854
| 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 |
noncoding transcript
Transcript: ENSMUST00000150824
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138343
|
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (53/53) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630001G21Rik |
T |
A |
1: 85,654,184 (GRCm39) |
Y51F |
probably damaging |
Het |
| Abi3bp |
C |
A |
16: 56,474,398 (GRCm39) |
T631K |
probably damaging |
Het |
| BC004004 |
G |
A |
17: 29,501,249 (GRCm39) |
|
probably benign |
Het |
| Cabp1 |
G |
A |
5: 115,324,096 (GRCm39) |
S7L |
possibly damaging |
Het |
| Cdc23 |
ACC |
AC |
18: 34,770,371 (GRCm39) |
|
probably null |
Het |
| Clhc1 |
T |
C |
11: 29,521,826 (GRCm39) |
I453T |
possibly damaging |
Het |
| Col28a1 |
T |
A |
6: 8,175,666 (GRCm39) |
I61F |
possibly damaging |
Het |
| Col2a1 |
T |
C |
15: 97,896,466 (GRCm39) |
E61G |
unknown |
Het |
| Col6a4 |
C |
T |
9: 105,949,215 (GRCm39) |
V807I |
probably damaging |
Het |
| Crhbp |
T |
C |
13: 95,580,385 (GRCm39) |
S65G |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,872,040 (GRCm39) |
Q2730L |
possibly damaging |
Het |
| Epx |
T |
A |
11: 87,760,256 (GRCm39) |
R453* |
probably null |
Het |
| Fez1 |
T |
C |
9: 36,781,768 (GRCm39) |
|
probably benign |
Het |
| G530012D18Rik |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
| Glp2r |
T |
C |
11: 67,555,342 (GRCm39) |
|
probably benign |
Het |
| Gpm6a |
T |
A |
8: 55,503,223 (GRCm39) |
N157K |
probably damaging |
Het |
| Kcnj2 |
T |
C |
11: 110,963,015 (GRCm39) |
S136P |
probably damaging |
Het |
| Lad1 |
A |
G |
1: 135,756,484 (GRCm39) |
D364G |
probably benign |
Het |
| Lcp2 |
G |
T |
11: 34,000,917 (GRCm39) |
E33D |
probably benign |
Het |
| Lrrc32 |
G |
T |
7: 98,148,144 (GRCm39) |
R308L |
probably benign |
Het |
| Matr3 |
C |
A |
18: 35,705,171 (GRCm39) |
A32D |
probably damaging |
Het |
| Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,038,586 (GRCm39) |
D1243G |
possibly damaging |
Het |
| Odf2 |
T |
A |
2: 29,805,333 (GRCm39) |
|
probably benign |
Het |
| Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
| Or4c125 |
T |
C |
2: 89,170,331 (GRCm39) |
E105G |
probably benign |
Het |
| Pasd1 |
G |
A |
X: 70,983,225 (GRCm39) |
C399Y |
possibly damaging |
Het |
| Pitpnm2 |
G |
T |
5: 124,261,632 (GRCm39) |
R977S |
probably damaging |
Het |
| Prdm13 |
T |
C |
4: 21,678,756 (GRCm39) |
E578G |
probably benign |
Het |
| Pum3 |
A |
G |
19: 27,400,116 (GRCm39) |
I183T |
probably damaging |
Het |
| Rdh14 |
G |
A |
12: 10,441,231 (GRCm39) |
|
probably null |
Het |
| Slc35b2 |
G |
A |
17: 45,877,355 (GRCm39) |
V161M |
probably benign |
Het |
| Slit1 |
A |
G |
19: 41,602,908 (GRCm39) |
C968R |
probably damaging |
Het |
| Spag9 |
A |
T |
11: 93,951,172 (GRCm39) |
|
probably benign |
Het |
| Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
| Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
| Stradb |
T |
C |
1: 59,033,531 (GRCm39) |
V398A |
probably benign |
Het |
| Tlr4 |
A |
T |
4: 66,757,540 (GRCm39) |
N111I |
probably damaging |
Het |
| Tnip2 |
G |
A |
5: 34,660,925 (GRCm39) |
R176* |
probably null |
Het |
| Tomm7 |
A |
G |
5: 24,048,977 (GRCm39) |
I32T |
probably benign |
Het |
| Trank1 |
T |
C |
9: 111,195,036 (GRCm39) |
I1020T |
probably benign |
Het |
| Ugt1a10 |
T |
G |
1: 87,983,717 (GRCm39) |
S172A |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,564,854 (GRCm39) |
M247K |
probably benign |
Het |
| Zfp341 |
T |
C |
2: 154,470,907 (GRCm39) |
L308P |
possibly damaging |
Het |
| Zmym6 |
T |
C |
4: 126,986,781 (GRCm39) |
S154P |
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 |
|
|
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'- AGTGACCCACGTGCAGTACTAC -3'
(R):5'- AAATTCACGCCCATGGGAC -3'
Sequencing Primer
(F):5'- ACGTGCAGTACTACCCCCG -3'
(R):5'- GGCCAGGTGTGGTTCAC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation