Incidental Mutation 'R8150:Mfsd6'
| ID |
632889 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd6
|
| Ensembl Gene |
ENSMUSG00000041439 |
| Gene Name |
major facilitator superfamily domain containing 6 |
| Synonyms |
2210010L05Rik, 9630025I22Rik, MMR2 |
| MMRRC Submission |
067576-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R8150 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
52695463-52766495 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 52747800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 355
(D355V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087701]
[ENSMUST00000156876]
|
| AlphaFold |
Q8CBH5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087701
AA Change: D355V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000084991
Gene: ENSMUSG00000041439
AA Change: D355V
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000115398
Gene: ENSMUSG00000041439
AA Change: D185V
| 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 benign
Transcript: ENSMUST00000156876
AA Change: D355V
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000122881
Gene: ENSMUSG00000041439
AA Change: D355V
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 98.5%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(4) : Targeted(4)
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
A |
2: 19,538,635 (GRCm39) |
M129L |
probably benign |
Het |
| Aadacl2fm1 |
A |
G |
3: 59,843,558 (GRCm39) |
D84G |
probably damaging |
Het |
| Abca2 |
T |
C |
2: 25,337,393 (GRCm39) |
I2416T |
probably damaging |
Het |
| Abca3 |
A |
G |
17: 24,615,522 (GRCm39) |
D871G |
probably benign |
Het |
| Akap9 |
C |
T |
5: 4,011,982 (GRCm39) |
T895I |
probably damaging |
Het |
| Aldh8a1 |
A |
G |
10: 21,271,444 (GRCm39) |
E390G |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,741,162 (GRCm39) |
D1574V |
|
Het |
| Blmh |
T |
C |
11: 76,859,455 (GRCm39) |
V352A |
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,259,540 (GRCm39) |
L1270P |
probably damaging |
Het |
| Ccdc80 |
T |
A |
16: 44,947,792 (GRCm39) |
H923Q |
probably damaging |
Het |
| Cdc27 |
G |
A |
11: 104,406,286 (GRCm39) |
H610Y |
probably damaging |
Het |
| Cep126 |
T |
C |
9: 8,101,791 (GRCm39) |
I248V |
probably benign |
Het |
| Ces5a |
T |
C |
8: 94,257,430 (GRCm39) |
N125S |
probably damaging |
Het |
| Chd3 |
G |
A |
11: 69,254,510 (GRCm39) |
H201Y |
probably benign |
Het |
| Cpeb1 |
T |
C |
7: 81,007,152 (GRCm39) |
T292A |
probably damaging |
Het |
| Gli2 |
G |
A |
1: 118,763,558 (GRCm39) |
T1531I |
probably damaging |
Het |
| Gm6871 |
T |
C |
7: 41,197,185 (GRCm39) |
T7A |
|
Het |
| Kank1 |
A |
G |
19: 25,388,163 (GRCm39) |
D612G |
possibly damaging |
Het |
| Lhcgr |
AT |
ATT |
17: 89,049,677 (GRCm39) |
615 |
probably null |
Het |
| Myo7a |
T |
C |
7: 97,712,846 (GRCm39) |
K1710E |
probably benign |
Het |
| Or13d1 |
C |
G |
4: 52,970,788 (GRCm39) |
H56D |
probably damaging |
Het |
| Or52ae7 |
A |
G |
7: 103,119,459 (GRCm39) |
D71G |
probably damaging |
Het |
| Pcdha8 |
G |
A |
18: 37,126,264 (GRCm39) |
V249M |
probably damaging |
Het |
| Pglyrp3 |
A |
G |
3: 91,933,790 (GRCm39) |
D145G |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,410,055 (GRCm39) |
K2521E |
possibly damaging |
Het |
| Pld3 |
A |
G |
7: 27,232,086 (GRCm39) |
V398A |
probably damaging |
Het |
| Plxnb1 |
A |
T |
9: 108,941,146 (GRCm39) |
T1642S |
probably damaging |
Het |
| Ppp2r1a |
T |
G |
17: 21,179,700 (GRCm39) |
V348G |
possibly damaging |
Het |
| Prdm2 |
C |
A |
4: 142,859,303 (GRCm39) |
C1329F |
possibly damaging |
Het |
| Ric8a |
G |
T |
7: 140,441,269 (GRCm39) |
G423V |
probably damaging |
Het |
| Rnf17 |
A |
G |
14: 56,658,593 (GRCm39) |
D94G |
probably benign |
Het |
| Serpina3f |
T |
C |
12: 104,185,769 (GRCm39) |
F325L |
probably damaging |
Het |
| Sin3a |
T |
A |
9: 57,034,568 (GRCm39) |
V1247E |
possibly damaging |
Het |
| Skint5 |
C |
A |
4: 113,798,087 (GRCm39) |
M165I |
probably benign |
Het |
| Slc19a3 |
T |
G |
1: 83,000,216 (GRCm39) |
Y267S |
probably damaging |
Het |
| Slc22a27 |
A |
T |
19: 7,887,390 (GRCm39) |
F196Y |
possibly damaging |
Het |
| Slc5a4b |
A |
T |
10: 75,939,680 (GRCm39) |
I152N |
possibly damaging |
Het |
| Tbc1d9 |
T |
A |
8: 83,982,519 (GRCm39) |
V768E |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,063,534 (GRCm39) |
M988K |
probably benign |
Het |
| Top2b |
T |
A |
14: 16,393,291 (GRCm38) |
F317I |
probably damaging |
Het |
| Wfdc8 |
A |
T |
2: 164,439,455 (GRCm39) |
L309* |
probably null |
Het |
| Wipf1 |
G |
A |
2: 73,267,879 (GRCm39) |
P173L |
possibly damaging |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp949 |
C |
T |
9: 88,452,053 (GRCm39) |
T541I |
probably benign |
Het |
| Zkscan16 |
T |
A |
4: 58,952,407 (GRCm39) |
I235N |
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 |
|
|
R0302:Mfsd6
|
UTSW |
1 |
52,748,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- GTGGAGTTGTCCCTTTCCAC -3'
(R):5'- CACCCTTGTGTATGACCAACAGG -3'
Sequencing Primer
(F):5'- GAGTTGTCCCTTTCCACCTGTG -3'
(R):5'- ACAGGAAGTTGAGGCGATATTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation