Incidental Mutation 'IGL02517:Mfsd6'
| ID |
296858 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02517
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
52695463-52766495 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 52702436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087701]
[ENSMUST00000156876]
|
| AlphaFold |
Q8CBH5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087701
|
| SMART Domains |
Protein: ENSMUSP00000084991
Gene: ENSMUSG00000041439
| 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 |
noncoding transcript
Transcript: ENSMUST00000149887
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188126
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(4) : Targeted(4)
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat2 |
T |
G |
4: 49,380,647 (GRCm39) |
M244L |
possibly damaging |
Het |
| Acnat2 |
A |
T |
4: 49,380,639 (GRCm39) |
C228* |
probably null |
Het |
| Adam24 |
T |
C |
8: 41,133,218 (GRCm39) |
S229P |
probably damaging |
Het |
| Alpk3 |
T |
C |
7: 80,727,643 (GRCm39) |
S258P |
probably benign |
Het |
| Atad2b |
A |
G |
12: 5,068,037 (GRCm39) |
T1012A |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,013,017 (GRCm39) |
E1899G |
probably damaging |
Het |
| C4b |
A |
T |
17: 34,953,382 (GRCm39) |
S1034T |
probably benign |
Het |
| Cd300ld2 |
T |
A |
11: 114,901,249 (GRCm39) |
H277L |
possibly damaging |
Het |
| Chrna4 |
C |
T |
2: 180,670,926 (GRCm39) |
V277I |
probably benign |
Het |
| Col3a1 |
A |
G |
1: 45,364,963 (GRCm39) |
|
probably null |
Het |
| Dpep2 |
C |
T |
8: 106,715,388 (GRCm39) |
V369M |
probably damaging |
Het |
| Eml2 |
T |
A |
7: 18,940,055 (GRCm39) |
N815K |
probably damaging |
Het |
| Enpp3 |
A |
G |
10: 24,685,746 (GRCm39) |
|
probably benign |
Het |
| Git1 |
T |
C |
11: 77,390,413 (GRCm39) |
V86A |
probably benign |
Het |
| Hivep2 |
C |
T |
10: 14,006,926 (GRCm39) |
P1175S |
probably benign |
Het |
| Hydin |
T |
C |
8: 111,293,604 (GRCm39) |
I3517T |
probably benign |
Het |
| Ift172 |
T |
A |
5: 31,410,992 (GRCm39) |
|
probably null |
Het |
| Jmy |
A |
G |
13: 93,589,316 (GRCm39) |
I647T |
probably benign |
Het |
| Kifap3 |
T |
A |
1: 163,653,440 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,670,915 (GRCm39) |
|
probably null |
Het |
| Lipa |
A |
C |
19: 34,471,522 (GRCm39) |
I351S |
possibly damaging |
Het |
| Ltbp2 |
G |
T |
12: 84,832,091 (GRCm39) |
A1631D |
probably benign |
Het |
| Masp2 |
A |
G |
4: 148,698,477 (GRCm39) |
I519M |
probably damaging |
Het |
| Numa1 |
T |
G |
7: 101,661,216 (GRCm39) |
D1846E |
probably benign |
Het |
| Oog3 |
A |
T |
4: 143,885,920 (GRCm39) |
I226K |
probably damaging |
Het |
| Or11h6 |
A |
G |
14: 50,880,658 (GRCm39) |
T301A |
probably benign |
Het |
| Or5an6 |
A |
T |
19: 12,372,265 (GRCm39) |
I213F |
probably benign |
Het |
| Or8b3b |
T |
C |
9: 38,584,209 (GRCm39) |
Y177C |
probably damaging |
Het |
| Or8g53 |
T |
G |
9: 39,683,800 (GRCm39) |
T99P |
probably damaging |
Het |
| Or9s13 |
A |
T |
1: 92,548,183 (GRCm39) |
Y185F |
probably benign |
Het |
| Pkdcc |
T |
C |
17: 83,531,295 (GRCm39) |
S435P |
probably damaging |
Het |
| Ppm1g |
A |
G |
5: 31,365,425 (GRCm39) |
Y70H |
probably damaging |
Het |
| Prcc |
C |
T |
3: 87,776,984 (GRCm39) |
S330N |
probably damaging |
Het |
| Ror2 |
A |
T |
13: 53,272,876 (GRCm39) |
L251Q |
probably damaging |
Het |
| Scn11a |
A |
G |
9: 119,621,464 (GRCm39) |
L651P |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,805,737 (GRCm39) |
|
probably benign |
Het |
| Slc23a4 |
A |
G |
6: 34,931,917 (GRCm39) |
F186L |
probably benign |
Het |
| Slc30a8 |
A |
T |
15: 52,198,530 (GRCm39) |
D325V |
probably benign |
Het |
| Son |
C |
T |
16: 91,452,099 (GRCm39) |
T282M |
possibly damaging |
Het |
| Tas2r118 |
A |
T |
6: 23,969,891 (GRCm39) |
F57I |
probably damaging |
Het |
| Tcf7l1 |
A |
G |
6: 72,606,966 (GRCm39) |
S447P |
probably benign |
Het |
| Thsd1 |
T |
A |
8: 22,733,454 (GRCm39) |
V167E |
probably damaging |
Het |
| Tle3 |
T |
C |
9: 61,322,063 (GRCm39) |
V696A |
probably damaging |
Het |
| Tmem67 |
A |
T |
4: 12,069,463 (GRCm39) |
I405K |
possibly damaging |
Het |
| Tmem71 |
A |
C |
15: 66,413,466 (GRCm39) |
V202G |
probably benign |
Het |
| Trim6 |
T |
C |
7: 103,881,564 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
A |
G |
1: 84,721,535 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
C |
2: 120,694,854 (GRCm39) |
C1693G |
possibly damaging |
Het |
| Ush2a |
G |
A |
1: 188,648,195 (GRCm39) |
R4600H |
probably damaging |
Het |
| Vil1 |
A |
G |
1: 74,465,851 (GRCm39) |
I547M |
probably benign |
Het |
| Vmn1r219 |
A |
T |
13: 23,347,266 (GRCm39) |
I152L |
probably benign |
Het |
| Vmn1r26 |
A |
G |
6: 57,986,127 (GRCm39) |
F21L |
possibly damaging |
Het |
| Vmn2r45 |
T |
A |
7: 8,486,185 (GRCm39) |
K368* |
probably null |
Het |
| Vmn2r68 |
C |
T |
7: 84,871,153 (GRCm39) |
W710* |
probably null |
Het |
| Zfp808 |
T |
A |
13: 62,321,032 (GRCm39) |
*754R |
probably null |
Het |
| Zyg11b |
C |
T |
4: 108,123,515 (GRCm39) |
E151K |
probably 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 |
|
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 |
|
|
R9480:Mfsd6
|
UTSW |
1 |
52,699,835 (GRCm39) |
missense |
unknown |
|
|
Z1177:Mfsd6
|
UTSW |
1 |
52,697,660 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation