Incidental Mutation 'R1368:Mfsd6'
ID |
155855 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mfsd6
|
Ensembl Gene |
ENSMUSG00000041439 |
Gene Name |
major facilitator superfamily domain containing 6 |
Synonyms |
2210010L05Rik, 9630025I22Rik, MMR2 |
MMRRC Submission |
039433-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
R1368 (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 52747764 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 367
(E367G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122881
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087701]
[ENSMUST00000156876]
|
AlphaFold |
Q8CBH5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087701
AA Change: E367G
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000084991 Gene: ENSMUSG00000041439 AA Change: E367G
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 |
unknown
Transcript: ENSMUST00000147758
AA Change: E197G
|
SMART Domains |
Protein: ENSMUSP00000115398 Gene: ENSMUSG00000041439 AA Change: E197G
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 |
possibly damaging
Transcript: ENSMUST00000156876
AA Change: E367G
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000122881 Gene: ENSMUSG00000041439 AA Change: E367G
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 |
0.1807 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
Validation Efficiency |
98% (55/56) |
Allele List at MGI |
All alleles(4) : Targeted(4)
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,241,836 (GRCm39) |
D1233G |
probably benign |
Het |
Abcc8 |
G |
A |
7: 45,772,284 (GRCm39) |
R832W |
probably damaging |
Het |
Atp10b |
A |
G |
11: 43,092,981 (GRCm39) |
T439A |
probably damaging |
Het |
Brd10 |
C |
A |
19: 29,693,796 (GRCm39) |
S1966I |
probably damaging |
Het |
C130073F10Rik |
T |
A |
4: 101,747,953 (GRCm39) |
N74Y |
possibly damaging |
Het |
Cct8 |
G |
A |
16: 87,288,200 (GRCm39) |
S124L |
probably damaging |
Het |
Cdh9 |
T |
A |
15: 16,848,568 (GRCm39) |
|
probably benign |
Het |
Cep290 |
C |
T |
10: 100,330,828 (GRCm39) |
|
probably benign |
Het |
Chrng |
T |
A |
1: 87,133,575 (GRCm39) |
L10H |
probably damaging |
Het |
Cnn3 |
T |
C |
3: 121,250,786 (GRCm39) |
L189S |
probably benign |
Het |
Cog4 |
A |
G |
8: 111,585,157 (GRCm39) |
|
probably benign |
Het |
Cxcl12 |
A |
G |
6: 117,153,111 (GRCm39) |
|
probably benign |
Het |
Eif2b2 |
G |
A |
12: 85,270,230 (GRCm39) |
A257T |
probably damaging |
Het |
Entrep2 |
A |
T |
7: 64,469,625 (GRCm39) |
V41E |
probably damaging |
Het |
Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
Fcgbpl1 |
A |
G |
7: 27,858,903 (GRCm39) |
Q2341R |
possibly damaging |
Het |
Fktn |
G |
A |
4: 53,734,880 (GRCm39) |
G173R |
probably damaging |
Het |
Gabbr2 |
T |
C |
4: 46,674,464 (GRCm39) |
N841S |
probably benign |
Het |
Gm5622 |
T |
A |
14: 51,899,647 (GRCm39) |
V167E |
possibly damaging |
Het |
Gnaq |
T |
C |
19: 16,355,651 (GRCm39) |
V289A |
probably benign |
Het |
Gpatch2l |
T |
G |
12: 86,307,439 (GRCm39) |
D272E |
possibly damaging |
Het |
Gzmg |
G |
A |
14: 56,395,263 (GRCm39) |
T74I |
probably benign |
Het |
Ikzf2 |
G |
A |
1: 69,578,474 (GRCm39) |
A271V |
possibly damaging |
Het |
Lig4 |
T |
C |
8: 10,021,176 (GRCm39) |
D868G |
possibly damaging |
Het |
Mpz |
T |
C |
1: 170,987,533 (GRCm39) |
L223P |
probably damaging |
Het |
Muc17 |
T |
C |
5: 137,175,674 (GRCm39) |
|
probably benign |
Het |
Or2f1b |
C |
A |
6: 42,739,613 (GRCm39) |
T209K |
possibly damaging |
Het |
Pdcd2 |
G |
T |
17: 15,746,846 (GRCm39) |
N104K |
probably damaging |
Het |
Pigg |
G |
T |
5: 108,465,154 (GRCm39) |
G129V |
probably damaging |
Het |
Ppp3cc |
T |
C |
14: 70,483,311 (GRCm39) |
Y254C |
probably damaging |
Het |
Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
Psg23 |
A |
G |
7: 18,348,645 (GRCm39) |
V54A |
probably benign |
Het |
Psmd3 |
A |
G |
11: 98,573,746 (GRCm39) |
D64G |
probably damaging |
Het |
Psmg2 |
CTTCAGTT |
CTTCAGTTCAGTT |
18: 67,779,095 (GRCm39) |
|
probably null |
Het |
Ptgdr |
T |
A |
14: 45,090,799 (GRCm39) |
I320F |
probably damaging |
Het |
Rad50 |
T |
A |
11: 53,574,072 (GRCm39) |
K722* |
probably null |
Het |
Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
Rgs9 |
G |
A |
11: 109,138,977 (GRCm39) |
S255L |
probably benign |
Het |
Ror1 |
C |
T |
4: 100,298,334 (GRCm39) |
P569L |
possibly damaging |
Het |
Rsad2 |
T |
C |
12: 26,497,147 (GRCm39) |
|
probably null |
Het |
Scn8a |
A |
G |
15: 100,933,422 (GRCm39) |
D1501G |
probably damaging |
Het |
Sema3c |
A |
G |
5: 17,883,330 (GRCm39) |
T313A |
possibly damaging |
Het |
Serpinc1 |
T |
A |
1: 160,821,094 (GRCm39) |
F59L |
probably damaging |
Het |
Sike1 |
A |
G |
3: 102,903,500 (GRCm39) |
D63G |
possibly damaging |
Het |
Slc25a11 |
T |
A |
11: 70,536,352 (GRCm39) |
|
probably null |
Het |
Slc32a1 |
A |
G |
2: 158,453,240 (GRCm39) |
M27V |
probably benign |
Het |
Smc5 |
A |
G |
19: 23,187,807 (GRCm39) |
V1003A |
probably damaging |
Het |
Tll2 |
G |
A |
19: 41,108,667 (GRCm39) |
R328C |
probably damaging |
Het |
Topaz1 |
A |
G |
9: 122,577,315 (GRCm39) |
E75G |
possibly damaging |
Het |
Tspan3 |
A |
T |
9: 56,054,783 (GRCm39) |
V48E |
probably benign |
Het |
Ugt1a6b |
T |
C |
1: 88,035,358 (GRCm39) |
I232T |
probably benign |
Het |
Unc79 |
A |
G |
12: 103,122,772 (GRCm39) |
K2290E |
probably damaging |
Het |
Vmn1r19 |
T |
C |
6: 57,381,656 (GRCm39) |
F70L |
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 |
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'- CGAGCCATACTGCACACTGCATAG -3'
(R):5'- CGTGTCAACAGCATTGACCTTGACC -3'
Sequencing Primer
(F):5'- TGCACACTGCATAGCAACTTG -3'
(R):5'- AGACAACCATTGCTGTGGTC -3'
|
Posted On |
2014-02-11 |