Incidental Mutation 'R0302:Mfsd6'
| ID |
24825 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd6
|
| Ensembl Gene |
ENSMUSG00000041439 |
| Gene Name |
major facilitator superfamily domain containing 6 |
| Synonyms |
2210010L05Rik, 9630025I22Rik, MMR2 |
| MMRRC Submission |
038514-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R0302 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
52695463-52766495 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52748616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 83
(Y83C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087701]
[ENSMUST00000156876]
|
| AlphaFold |
Q8CBH5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087701
AA Change: Y83C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084991
Gene: ENSMUSG00000041439
AA Change: Y83C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
48 |
N/A |
INTRINSIC |
|
Pfam:MFS_1_like
|
68 |
144 |
4.8e-19 |
PFAM |
|
Pfam:MFS_1
|
70 |
162 |
7e-11 |
PFAM |
|
Pfam:MFS_2
|
72 |
571 |
3.8e-13 |
PFAM |
|
Pfam:Nuc_H_symport
|
424 |
628 |
1.1e-11 |
PFAM |
|
Pfam:MFS_1
|
453 |
708 |
6.3e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147421
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147758
|
| SMART Domains |
Protein: ENSMUSP00000115398
Gene: ENSMUSG00000041439
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
89 |
101 |
N/A |
INTRINSIC |
|
transmembrane domain
|
120 |
142 |
N/A |
INTRINSIC |
|
transmembrane domain
|
163 |
185 |
N/A |
INTRINSIC |
|
transmembrane domain
|
200 |
219 |
N/A |
INTRINSIC |
|
Pfam:Nuc_H_symport
|
255 |
459 |
1.4e-11 |
PFAM |
|
Pfam:MFS_1
|
284 |
539 |
6.8e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156876
AA Change: Y83C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122881
Gene: ENSMUSG00000041439
AA Change: Y83C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
48 |
N/A |
INTRINSIC |
|
Pfam:MFS_1_like
|
68 |
144 |
6.2e-20 |
PFAM |
|
Pfam:MFS_1
|
70 |
162 |
1.8e-10 |
PFAM |
|
low complexity region
|
258 |
270 |
N/A |
INTRINSIC |
|
transmembrane domain
|
289 |
311 |
N/A |
INTRINSIC |
|
transmembrane domain
|
332 |
354 |
N/A |
INTRINSIC |
|
transmembrane domain
|
369 |
388 |
N/A |
INTRINSIC |
|
Pfam:Nuc_H_symport
|
424 |
628 |
2.6e-11 |
PFAM |
|
Pfam:MFS_1
|
453 |
707 |
1.7e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190228
|
| Meta Mutation Damage Score |
0.5337 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.1%
- 20x: 89.5%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
All alleles(4) : Targeted(4)
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprs |
T |
C |
4: 126,211,185 (GRCm39) |
E244G |
probably benign |
Het |
| Aldh1l2 |
G |
A |
10: 83,356,229 (GRCm39) |
P54S |
probably damaging |
Het |
| Ankdd1a |
G |
A |
9: 65,416,924 (GRCm39) |
|
probably benign |
Het |
| Ankra2 |
T |
A |
13: 98,408,200 (GRCm39) |
S216R |
probably damaging |
Het |
| Asah2 |
A |
T |
19: 32,030,356 (GRCm39) |
N105K |
probably benign |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,028,342 (GRCm39) |
Y893C |
probably benign |
Het |
| Capza2 |
G |
A |
6: 17,648,523 (GRCm39) |
R15H |
probably benign |
Het |
| Cbfa2t2 |
T |
C |
2: 154,376,796 (GRCm39) |
|
probably benign |
Het |
| Ccdc96 |
A |
T |
5: 36,643,445 (GRCm39) |
T484S |
possibly damaging |
Het |
| Cckar |
GCTTAGCCTCTTCT |
GCT |
5: 53,857,641 (GRCm39) |
|
probably null |
Het |
| Ccl4 |
T |
A |
11: 83,554,280 (GRCm39) |
|
probably benign |
Het |
| Cpt1b |
A |
G |
15: 89,302,073 (GRCm39) |
Y702H |
probably benign |
Het |
| Cr1l |
G |
A |
1: 194,800,101 (GRCm39) |
T153I |
probably damaging |
Het |
| Cyth2 |
C |
A |
7: 45,460,009 (GRCm39) |
E57* |
probably null |
Het |
| Daxx |
T |
A |
17: 34,132,594 (GRCm39) |
S575T |
probably damaging |
Het |
| Depdc5 |
T |
C |
5: 33,061,890 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,521,956 (GRCm39) |
D1923G |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,162,937 (GRCm39) |
T428A |
probably benign |
Het |
| Dnm2 |
G |
T |
9: 21,411,639 (GRCm39) |
A619S |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,723,457 (GRCm39) |
T639A |
probably benign |
Het |
| Epsti1 |
A |
T |
14: 78,177,366 (GRCm39) |
H182L |
probably damaging |
Het |
| Exoc3l |
C |
T |
8: 106,020,175 (GRCm39) |
R250Q |
probably benign |
Het |
| Ggn |
G |
T |
7: 28,870,665 (GRCm39) |
|
probably null |
Het |
| Il1rap |
A |
G |
16: 26,511,544 (GRCm39) |
N196S |
probably benign |
Het |
| Ints6 |
T |
C |
14: 62,946,961 (GRCm39) |
T335A |
probably damaging |
Het |
| Itga1 |
G |
A |
13: 115,148,854 (GRCm39) |
|
probably benign |
Het |
| Kifc3 |
G |
T |
8: 95,830,098 (GRCm39) |
Q557K |
possibly damaging |
Het |
| Krt23 |
A |
G |
11: 99,369,027 (GRCm39) |
I422T |
probably benign |
Het |
| Lcn2 |
A |
G |
2: 32,274,901 (GRCm39) |
|
probably benign |
Het |
| Lonp2 |
A |
G |
8: 87,364,619 (GRCm39) |
T326A |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 85,047,506 (GRCm39) |
I909V |
possibly damaging |
Het |
| Lrrc14 |
G |
T |
15: 76,598,552 (GRCm39) |
R396L |
probably benign |
Het |
| Lypd6 |
T |
G |
2: 50,055,679 (GRCm39) |
|
probably benign |
Het |
| Man2b1 |
A |
G |
8: 85,819,645 (GRCm39) |
N610S |
probably damaging |
Het |
| Map2 |
A |
T |
1: 66,453,987 (GRCm39) |
N959I |
probably benign |
Het |
| Mctp2 |
C |
T |
7: 71,740,012 (GRCm39) |
V793I |
possibly damaging |
Het |
| Med25 |
A |
C |
7: 44,529,982 (GRCm39) |
|
probably benign |
Het |
| Mtbp |
A |
T |
15: 55,488,820 (GRCm39) |
M499L |
probably damaging |
Het |
| Mtmr10 |
A |
T |
7: 63,947,245 (GRCm39) |
K53N |
probably damaging |
Het |
| Nfat5 |
T |
C |
8: 108,085,333 (GRCm39) |
I542T |
probably damaging |
Het |
| Nr1h3 |
A |
G |
2: 91,022,358 (GRCm39) |
M90T |
probably damaging |
Het |
| Nsmce4a |
A |
G |
7: 130,147,623 (GRCm39) |
|
probably benign |
Het |
| Oprl1 |
G |
A |
2: 181,361,021 (GRCm39) |
C318Y |
probably benign |
Het |
| Or5d40 |
T |
A |
2: 88,015,854 (GRCm39) |
I211N |
possibly damaging |
Het |
| Pbx3 |
A |
T |
2: 34,114,572 (GRCm39) |
S46T |
probably benign |
Het |
| Pign |
A |
T |
1: 105,516,818 (GRCm39) |
F575I |
possibly damaging |
Het |
| Ptpn13 |
G |
T |
5: 103,713,091 (GRCm39) |
S1738I |
probably benign |
Het |
| Rnf126 |
G |
T |
10: 79,595,057 (GRCm39) |
P269Q |
probably damaging |
Het |
| Ryr3 |
G |
A |
2: 112,477,468 (GRCm39) |
|
probably benign |
Het |
| Slc2a7 |
C |
T |
4: 150,233,978 (GRCm39) |
A31V |
probably damaging |
Het |
| Slc6a12 |
A |
G |
6: 121,340,218 (GRCm39) |
D487G |
probably damaging |
Het |
| Son |
G |
T |
16: 91,453,032 (GRCm39) |
G593V |
probably damaging |
Het |
| Spata31d1a |
T |
C |
13: 59,850,964 (GRCm39) |
N388S |
probably benign |
Het |
| Spg11 |
A |
T |
2: 121,922,668 (GRCm39) |
M927K |
possibly damaging |
Het |
| Taf13 |
A |
G |
3: 108,479,038 (GRCm39) |
M1V |
probably null |
Het |
| Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,902,603 (GRCm39) |
F286S |
probably damaging |
Het |
| Trpm2 |
A |
C |
10: 77,779,824 (GRCm39) |
|
probably benign |
Het |
| Ttc7b |
T |
C |
12: 100,353,438 (GRCm39) |
M390V |
possibly damaging |
Het |
| Vmn1r184 |
A |
T |
7: 25,966,968 (GRCm39) |
Q238L |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,676,213 (GRCm39) |
E368G |
probably damaging |
Het |
| Zfr2 |
G |
T |
10: 81,087,170 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Mfsd6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00490:Mfsd6
|
APN |
1 |
52,747,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00820:Mfsd6
|
APN |
1 |
52,747,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01518:Mfsd6
|
APN |
1 |
52,748,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02111:Mfsd6
|
APN |
1 |
52,747,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02517:Mfsd6
|
APN |
1 |
52,702,436 (GRCm39) |
splice site |
probably benign |
|
|
IGL02687:Mfsd6
|
APN |
1 |
52,747,834 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02887:Mfsd6
|
APN |
1 |
52,748,037 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02901:Mfsd6
|
APN |
1 |
52,747,632 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03030:Mfsd6
|
APN |
1 |
52,748,862 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
PIT4280001:Mfsd6
|
UTSW |
1 |
52,700,039 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4466001:Mfsd6
|
UTSW |
1 |
52,748,056 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0043:Mfsd6
|
UTSW |
1 |
52,747,811 (GRCm39) |
nonsense |
probably null |
|
|
R0113:Mfsd6
|
UTSW |
1 |
52,748,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0226:Mfsd6
|
UTSW |
1 |
52,697,849 (GRCm39) |
intron |
probably benign |
|
|
R0613:Mfsd6
|
UTSW |
1 |
52,697,855 (GRCm39) |
intron |
probably benign |
|
|
R1126:Mfsd6
|
UTSW |
1 |
52,748,670 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1368:Mfsd6
|
UTSW |
1 |
52,747,764 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1471:Mfsd6
|
UTSW |
1 |
52,748,716 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1733:Mfsd6
|
UTSW |
1 |
52,748,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1768:Mfsd6
|
UTSW |
1 |
52,699,964 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1951:Mfsd6
|
UTSW |
1 |
52,748,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2031:Mfsd6
|
UTSW |
1 |
52,748,013 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2116:Mfsd6
|
UTSW |
1 |
52,700,134 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2240:Mfsd6
|
UTSW |
1 |
52,699,978 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2242:Mfsd6
|
UTSW |
1 |
52,748,757 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2303:Mfsd6
|
UTSW |
1 |
52,715,672 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2382:Mfsd6
|
UTSW |
1 |
52,747,569 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4568:Mfsd6
|
UTSW |
1 |
52,702,448 (GRCm39) |
nonsense |
probably null |
|
|
R4801:Mfsd6
|
UTSW |
1 |
52,748,755 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4802:Mfsd6
|
UTSW |
1 |
52,748,755 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4958:Mfsd6
|
UTSW |
1 |
52,700,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5134:Mfsd6
|
UTSW |
1 |
52,747,515 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5827:Mfsd6
|
UTSW |
1 |
52,701,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5844:Mfsd6
|
UTSW |
1 |
52,697,542 (GRCm39) |
missense |
probably benign |
|
|
R6124:Mfsd6
|
UTSW |
1 |
52,747,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6435:Mfsd6
|
UTSW |
1 |
52,748,603 (GRCm39) |
nonsense |
probably null |
|
|
R6515:Mfsd6
|
UTSW |
1 |
52,700,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6874:Mfsd6
|
UTSW |
1 |
52,699,868 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6878:Mfsd6
|
UTSW |
1 |
52,747,912 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7111:Mfsd6
|
UTSW |
1 |
52,748,917 (GRCm39) |
splice site |
probably null |
|
|
R7170:Mfsd6
|
UTSW |
1 |
52,701,547 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7242:Mfsd6
|
UTSW |
1 |
52,748,633 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7548:Mfsd6
|
UTSW |
1 |
52,702,446 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7664:Mfsd6
|
UTSW |
1 |
52,748,212 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7686:Mfsd6
|
UTSW |
1 |
52,701,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7747:Mfsd6
|
UTSW |
1 |
52,715,706 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7763:Mfsd6
|
UTSW |
1 |
52,747,799 (GRCm39) |
missense |
probably benign |
|
|
R8138:Mfsd6
|
UTSW |
1 |
52,748,671 (GRCm39) |
missense |
probably benign |
|
|
R8150:Mfsd6
|
UTSW |
1 |
52,747,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8807:Mfsd6
|
UTSW |
1 |
52,697,706 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R8938:Mfsd6
|
UTSW |
1 |
52,748,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9229:Mfsd6
|
UTSW |
1 |
52,747,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9276:Mfsd6
|
UTSW |
1 |
52,747,514 (GRCm39) |
nonsense |
probably null |
|
|
R9480:Mfsd6
|
UTSW |
1 |
52,699,835 (GRCm39) |
missense |
unknown |
|
|
Z1177:Mfsd6
|
UTSW |
1 |
52,697,660 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCTTTCTGAAACGATCTGCAAC -3'
(R):5'- TGACCCTAATGGTGGTGGTAAGCC -3'
Sequencing Primer
(F):5'- TTTCTGAAACGATCTGCAACTACAC -3'
(R):5'- GCTGCTGATGATAAAGTTGCTATCC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation