Incidental Mutation 'PIT4280001:Mfsd6'
ID |
554389 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mfsd6
|
Ensembl Gene |
ENSMUSG00000041439 |
Gene Name |
major facilitator superfamily domain containing 6 |
Synonyms |
2210010L05Rik, 9630025I22Rik, MMR2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
PIT4280001 (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 52700039 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 703
(Y703F)
|
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: Y703F
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000084991 Gene: ENSMUSG00000041439 AA Change: Y703F
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: Y533F
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: Y703F
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000122881 Gene: ENSMUSG00000041439 AA Change: Y703F
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: 93.1%
- 3x: 90.9%
- 10x: 85.5%
- 20x: 73.2%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(4) : Targeted(4)
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020L24Rik |
A |
G |
11: 83,331,660 (GRCm39) |
D161G |
probably damaging |
Het |
Acer2 |
C |
T |
4: 86,805,320 (GRCm39) |
L95F |
probably damaging |
Het |
Adam15 |
C |
T |
3: 89,251,285 (GRCm39) |
|
probably null |
Het |
Aoc1l3 |
A |
T |
6: 48,964,054 (GRCm39) |
M21L |
probably benign |
Het |
Bmi1 |
T |
A |
2: 18,687,820 (GRCm39) |
Y98* |
probably null |
Het |
Cdon |
T |
C |
9: 35,398,231 (GRCm39) |
C983R |
probably damaging |
Het |
Cfap91 |
C |
T |
16: 38,153,135 (GRCm39) |
V160I |
probably benign |
Het |
Col12a1 |
T |
C |
9: 79,585,387 (GRCm39) |
R1297G |
probably damaging |
Het |
Cpd |
A |
T |
11: 76,681,850 (GRCm39) |
M1132K |
probably benign |
Het |
Dnah17 |
T |
A |
11: 117,989,408 (GRCm39) |
R1267W |
possibly damaging |
Het |
Dnah9 |
G |
A |
11: 65,895,839 (GRCm39) |
A2512V |
probably benign |
Het |
Eri3 |
G |
A |
4: 117,439,831 (GRCm39) |
G175D |
probably damaging |
Het |
Fbxo9 |
C |
A |
9: 77,994,793 (GRCm39) |
W244L |
probably damaging |
Het |
Fgfr3 |
A |
T |
5: 33,889,576 (GRCm39) |
H343L |
probably benign |
Het |
Fmnl2 |
G |
A |
2: 53,008,208 (GRCm39) |
A803T |
unknown |
Het |
Fmnl3 |
A |
G |
15: 99,219,134 (GRCm39) |
|
probably null |
Het |
Fth1 |
C |
A |
19: 9,961,973 (GRCm39) |
A104E |
probably damaging |
Het |
Gcm1 |
T |
C |
9: 77,966,915 (GRCm39) |
Y45H |
probably damaging |
Het |
Gm5157 |
C |
G |
7: 20,919,007 (GRCm39) |
G179R |
probably damaging |
Het |
Gpr179 |
A |
G |
11: 97,234,941 (GRCm39) |
I463T |
probably damaging |
Het |
Gpr35 |
T |
C |
1: 92,910,356 (GRCm39) |
Y23H |
probably damaging |
Het |
Inpp4b |
C |
T |
8: 82,761,046 (GRCm39) |
H647Y |
probably benign |
Het |
Kif6 |
A |
T |
17: 50,062,148 (GRCm39) |
K436M |
probably benign |
Het |
Lacc1 |
T |
A |
14: 77,272,517 (GRCm39) |
Q93L |
probably damaging |
Het |
Lamc1 |
T |
C |
1: 153,119,217 (GRCm39) |
R801G |
probably damaging |
Het |
Lrp2bp |
T |
G |
8: 46,476,048 (GRCm39) |
V263G |
probably damaging |
Het |
Magi3 |
T |
A |
3: 103,961,668 (GRCm39) |
K453N |
probably damaging |
Het |
Mms22l |
A |
G |
4: 24,581,149 (GRCm39) |
T820A |
probably benign |
Het |
Ndufa12 |
T |
C |
10: 94,034,994 (GRCm39) |
|
probably null |
Het |
Nlrp12 |
A |
T |
7: 3,290,063 (GRCm39) |
C150S |
possibly damaging |
Het |
Noc4l |
G |
A |
5: 110,799,305 (GRCm39) |
T159I |
probably benign |
Het |
Olfml2b |
T |
A |
1: 170,475,305 (GRCm39) |
C77S |
probably damaging |
Het |
Or4c12 |
A |
T |
2: 89,774,087 (GRCm39) |
I124N |
probably damaging |
Het |
Or9a4 |
C |
A |
6: 40,548,650 (GRCm39) |
T110K |
probably damaging |
Het |
Pdzd2 |
A |
G |
15: 12,399,374 (GRCm39) |
V784A |
probably damaging |
Het |
Pip5kl1 |
A |
T |
2: 32,473,470 (GRCm39) |
Y369F |
probably benign |
Het |
Pkdrej |
A |
T |
15: 85,704,136 (GRCm39) |
I600N |
probably benign |
Het |
Psg19 |
T |
C |
7: 18,530,831 (GRCm39) |
I108V |
probably damaging |
Het |
Pxdn |
G |
A |
12: 30,045,327 (GRCm39) |
V539M |
probably damaging |
Het |
Resf1 |
T |
G |
6: 149,227,023 (GRCm39) |
I23S |
probably benign |
Het |
Rsbn1l |
T |
A |
5: 21,124,653 (GRCm39) |
H383L |
probably damaging |
Het |
Scamp2 |
A |
T |
9: 57,488,076 (GRCm39) |
N118I |
probably damaging |
Het |
Scn2a |
T |
C |
2: 65,546,074 (GRCm39) |
V879A |
probably damaging |
Het |
Scn8a |
G |
A |
15: 100,855,370 (GRCm39) |
E172K |
probably damaging |
Het |
Slc16a6 |
C |
T |
11: 109,349,419 (GRCm39) |
C214Y |
possibly damaging |
Het |
Stag1 |
A |
G |
9: 100,824,769 (GRCm39) |
T922A |
possibly damaging |
Het |
Tarbp1 |
T |
C |
8: 127,157,586 (GRCm39) |
H1307R |
probably damaging |
Het |
Tut1 |
T |
G |
19: 8,936,626 (GRCm39) |
V150G |
probably benign |
Het |
Ubr2 |
G |
A |
17: 47,255,789 (GRCm39) |
R1371W |
probably damaging |
Het |
Vmn2r124 |
A |
G |
17: 18,283,487 (GRCm39) |
N394D |
probably benign |
Het |
Vmn2r63 |
T |
C |
7: 42,553,409 (GRCm39) |
T616A |
probably damaging |
Het |
Zp3 |
G |
A |
5: 136,013,318 (GRCm39) |
V217M |
possibly damaging |
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 |
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 |
|
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'- CTGTGACAGAGTGATCGCAG -3'
(R):5'- TGTTGGCAGAAAGGATCCC -3'
Sequencing Primer
(F):5'- GAGTGATCGCAGACCACTGATATC -3'
(R):5'- TTGGCAGAAAGGATCCCAGTTCC -3'
|
Posted On |
2019-06-07 |