Incidental Mutation 'R9480:Mfsd6'
| ID |
716152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd6
|
| Ensembl Gene |
ENSMUSG00000041439 |
| Gene Name |
major facilitator superfamily domain containing 6 |
| Synonyms |
2210010L05Rik, 9630025I22Rik, MMR2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R9480 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
52695463-52766495 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52699835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 771
(V771A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087701]
[ENSMUST00000156876]
|
| AlphaFold |
Q8CBH5 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000087701
AA Change: V771A
|
| SMART Domains |
Protein: ENSMUSP00000084991
Gene: ENSMUSG00000041439
AA Change: V771A
| 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 |
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 benign
Transcript: ENSMUST00000156876
|
| SMART Domains |
Protein: ENSMUSP00000122881
Gene: ENSMUSG00000041439
| 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: 99.9%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(4) : Targeted(4)
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
A |
16: 14,211,889 (GRCm39) |
W142R |
probably damaging |
Het |
| Abcc6 |
A |
G |
7: 45,629,197 (GRCm39) |
S1350P |
probably damaging |
Het |
| Abraxas2 |
G |
T |
7: 132,473,323 (GRCm39) |
V84L |
probably benign |
Het |
| Adam12 |
T |
A |
7: 133,736,470 (GRCm39) |
I81F |
probably damaging |
Het |
| Adam22 |
A |
G |
5: 8,193,077 (GRCm39) |
V376A |
probably benign |
Het |
| Anapc11 |
T |
A |
11: 120,496,176 (GRCm39) |
I60N |
probably damaging |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| Atrnl1 |
T |
A |
19: 57,690,420 (GRCm39) |
V876E |
possibly damaging |
Het |
| Bcar3 |
C |
T |
3: 122,277,618 (GRCm39) |
R21* |
probably null |
Het |
| Calb1 |
T |
A |
4: 15,885,608 (GRCm39) |
S60T |
probably benign |
Het |
| Ceacam9 |
A |
G |
7: 16,457,783 (GRCm39) |
T99A |
probably damaging |
Het |
| Cemip2 |
C |
A |
19: 21,775,622 (GRCm39) |
H288Q |
possibly damaging |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,497,338 (GRCm39) |
D213G |
possibly damaging |
Het |
| Col23a1 |
T |
A |
11: 51,207,774 (GRCm39) |
C105S |
unknown |
Het |
| Cxcl2 |
T |
C |
5: 91,052,029 (GRCm39) |
V45A |
possibly damaging |
Het |
| Ddx21 |
T |
C |
10: 62,434,652 (GRCm39) |
T36A |
probably benign |
Het |
| Dlgap4 |
G |
T |
2: 156,546,514 (GRCm39) |
R394L |
possibly damaging |
Het |
| Dus2 |
C |
T |
8: 106,757,052 (GRCm39) |
Q81* |
probably null |
Het |
| Fat3 |
T |
C |
9: 15,942,703 (GRCm39) |
D1223G |
probably damaging |
Het |
| Fgf3 |
G |
T |
7: 144,396,619 (GRCm39) |
R211L |
possibly damaging |
Het |
| Galnt17 |
T |
A |
5: 130,935,576 (GRCm39) |
E369V |
probably damaging |
Het |
| Gatad2a |
T |
C |
8: 70,388,459 (GRCm39) |
D76G |
probably damaging |
Het |
| Gin1 |
A |
G |
1: 97,705,198 (GRCm39) |
E96G |
probably damaging |
Het |
| Gpr55 |
A |
C |
1: 85,868,977 (GRCm39) |
Y201* |
probably null |
Het |
| Hgsnat |
T |
C |
8: 26,442,029 (GRCm39) |
N499D |
possibly damaging |
Het |
| Hipk2 |
G |
T |
6: 38,680,377 (GRCm39) |
P988T |
probably benign |
Het |
| Hivep1 |
A |
T |
13: 42,337,058 (GRCm39) |
Q2379L |
probably damaging |
Het |
| Kat14 |
T |
A |
2: 144,215,745 (GRCm39) |
C77S |
probably damaging |
Het |
| Klhl25 |
T |
C |
7: 75,516,120 (GRCm39) |
V342A |
probably damaging |
Het |
| Krt35 |
T |
C |
11: 99,986,609 (GRCm39) |
Q135R |
probably benign |
Het |
| Lhfpl2 |
T |
A |
13: 94,310,733 (GRCm39) |
M1K |
probably null |
Het |
| Lipk |
T |
A |
19: 33,999,101 (GRCm39) |
L132Q |
probably damaging |
Het |
| Lrrc39 |
T |
A |
3: 116,359,475 (GRCm39) |
C7S |
probably benign |
Het |
| Ltb4r2 |
T |
A |
14: 56,000,089 (GRCm39) |
W237R |
probably damaging |
Het |
| Mesp2 |
A |
G |
7: 79,461,034 (GRCm39) |
I120V |
probably damaging |
Het |
| Mtfmt |
A |
T |
9: 65,351,181 (GRCm39) |
T243S |
possibly damaging |
Het |
| Nlrp12 |
A |
T |
7: 3,288,993 (GRCm39) |
C506* |
probably null |
Het |
| Ntng2 |
T |
A |
2: 29,137,997 (GRCm39) |
Y19F |
probably damaging |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Orc4 |
T |
C |
2: 48,795,563 (GRCm39) |
T388A |
probably benign |
Het |
| P4hb |
A |
T |
11: 120,463,551 (GRCm39) |
V28D |
probably damaging |
Het |
| Phkb |
T |
G |
8: 86,684,216 (GRCm39) |
S424R |
probably benign |
Het |
| Poldip2 |
T |
C |
11: 78,411,988 (GRCm39) |
L308S |
probably damaging |
Het |
| Prkd1 |
T |
A |
12: 50,435,283 (GRCm39) |
E481D |
probably benign |
Het |
| Serping1 |
C |
T |
2: 84,600,487 (GRCm39) |
S285N |
probably benign |
Het |
| Sh2d2a |
A |
C |
3: 87,759,638 (GRCm39) |
I350L |
probably benign |
Het |
| Siglecf |
G |
T |
7: 43,001,666 (GRCm39) |
V159L |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,470,820 (GRCm39) |
N36S |
probably damaging |
Het |
| Sytl2 |
C |
T |
7: 90,020,718 (GRCm39) |
T147M |
possibly damaging |
Het |
| Tmc7 |
A |
G |
7: 118,141,226 (GRCm39) |
F635S |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,157,757 (GRCm39) |
L175F |
|
Het |
| Ttc39d |
A |
G |
17: 80,524,139 (GRCm39) |
H266R |
probably benign |
Het |
| Usp33 |
T |
G |
3: 152,079,086 (GRCm39) |
I446R |
possibly damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Zbtb49 |
T |
A |
5: 38,358,409 (GRCm39) |
T615S |
possibly damaging |
Het |
| Zbtb8a |
G |
T |
4: 129,253,875 (GRCm39) |
H206Q |
probably benign |
Het |
| Zfp180 |
A |
G |
7: 23,804,628 (GRCm39) |
N349S |
probably benign |
Het |
| Zfp345 |
A |
T |
2: 150,315,212 (GRCm39) |
C108* |
probably null |
Het |
| Zfp420 |
T |
A |
7: 29,575,497 (GRCm39) |
H572Q |
probably benign |
Het |
| Zfp423 |
A |
G |
8: 88,631,115 (GRCm39) |
|
probably null |
Het |
| Zfp820 |
T |
A |
17: 22,037,994 (GRCm39) |
T445S |
possibly damaging |
Het |
| Zim1 |
T |
C |
7: 6,681,050 (GRCm39) |
I204M |
probably benign |
Het |
| Zpld2 |
G |
A |
4: 133,929,312 (GRCm39) |
P331L |
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 |
|
|
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 |
|
|
Z1177:Mfsd6
|
UTSW |
1 |
52,697,660 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATGGTCCCCTGGAATTCTG -3'
(R):5'- TGTAAATAAACCGGCCTGGG -3'
Sequencing Primer
(F):5'- GTCCCCTGGAATTCTGATTTATAGAG -3'
(R):5'- TGCTCTCTACCAAGTTAAAGAGC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation