Incidental Mutation 'R2382:Mfsd6'
ID |
247544 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mfsd6
|
Ensembl Gene |
ENSMUSG00000041439 |
Gene Name |
major facilitator superfamily domain containing 6 |
Synonyms |
2210010L05Rik, 9630025I22Rik, MMR2 |
MMRRC Submission |
040357-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
R2382 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
52695463-52766495 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 52747569 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 432
(H432L)
|
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: H432L
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000084991 Gene: ENSMUSG00000041439 AA Change: H432L
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: H262L
|
SMART Domains |
Protein: ENSMUSP00000115398 Gene: ENSMUSG00000041439 AA Change: H262L
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: H432L
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000122881 Gene: ENSMUSG00000041439 AA Change: H432L
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
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(4) : Targeted(4)
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Aarsd1 |
T |
A |
11: 101,304,904 (GRCm39) |
I64F |
probably damaging |
Het |
Agrn |
T |
A |
4: 156,260,973 (GRCm39) |
D574V |
probably damaging |
Het |
Atg4b |
T |
C |
1: 93,712,564 (GRCm39) |
C16R |
probably damaging |
Het |
Ccdc141 |
A |
T |
2: 76,841,886 (GRCm39) |
L1515Q |
probably damaging |
Het |
Ccdc141 |
A |
T |
2: 76,905,342 (GRCm39) |
V368E |
probably benign |
Het |
Clk1 |
A |
T |
1: 58,460,448 (GRCm39) |
S61T |
probably benign |
Het |
Dhx38 |
A |
T |
8: 110,282,772 (GRCm39) |
D631E |
probably damaging |
Het |
Dner |
C |
G |
1: 84,348,544 (GRCm39) |
E719Q |
probably damaging |
Het |
E030025P04Rik |
G |
A |
11: 109,034,880 (GRCm39) |
Q3* |
probably null |
Het |
Eif4g2 |
T |
A |
7: 110,674,253 (GRCm39) |
T613S |
probably benign |
Het |
Fn1 |
C |
G |
1: 71,687,278 (GRCm39) |
G193A |
probably damaging |
Het |
Ftdc1 |
T |
C |
16: 58,436,239 (GRCm39) |
|
probably null |
Het |
Gls2 |
A |
G |
10: 128,039,711 (GRCm39) |
E286G |
probably damaging |
Het |
Gm21286 |
A |
G |
4: 60,794,283 (GRCm39) |
|
noncoding transcript |
Het |
Hoxa13 |
A |
T |
6: 52,236,125 (GRCm39) |
V304D |
probably damaging |
Het |
Hpse2 |
A |
T |
19: 42,920,061 (GRCm39) |
M346K |
probably benign |
Het |
Igkv1-99 |
A |
T |
6: 68,519,481 (GRCm39) |
|
probably benign |
Het |
Kcnq2 |
A |
G |
2: 180,753,900 (GRCm39) |
Y237H |
probably damaging |
Het |
Kmt2a |
T |
A |
9: 44,732,207 (GRCm39) |
|
probably benign |
Het |
Kntc1 |
A |
G |
5: 123,898,411 (GRCm39) |
D180G |
probably damaging |
Het |
Macf1 |
G |
A |
4: 123,268,625 (GRCm39) |
T4682M |
probably damaging |
Het |
Mgat5b |
T |
A |
11: 116,810,322 (GRCm39) |
D7E |
probably damaging |
Het |
Msh6 |
G |
A |
17: 88,292,159 (GRCm39) |
V305I |
probably benign |
Het |
Notch1 |
A |
T |
2: 26,363,793 (GRCm39) |
H880Q |
probably benign |
Het |
Or2g25 |
A |
C |
17: 37,970,822 (GRCm39) |
V134G |
probably benign |
Het |
Or7a37 |
G |
A |
10: 78,805,990 (GRCm39) |
C169Y |
probably damaging |
Het |
Or7a41 |
A |
T |
10: 78,870,968 (GRCm39) |
I113F |
possibly damaging |
Het |
Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
Pnliprp2 |
A |
G |
19: 58,757,062 (GRCm39) |
N308S |
probably benign |
Het |
Ppwd1 |
T |
C |
13: 104,343,621 (GRCm39) |
T595A |
probably damaging |
Het |
Prdm13 |
T |
C |
4: 21,678,277 (GRCm39) |
T738A |
possibly damaging |
Het |
Rab11fip3 |
T |
A |
17: 26,209,841 (GRCm39) |
K1062* |
probably null |
Het |
Reep3 |
A |
T |
10: 66,932,569 (GRCm39) |
V11E |
possibly damaging |
Het |
Slco1a8 |
G |
A |
6: 141,936,206 (GRCm39) |
S293F |
probably benign |
Het |
Slco3a1 |
T |
C |
7: 73,996,524 (GRCm39) |
D294G |
probably benign |
Het |
Sycp2 |
A |
G |
2: 178,019,811 (GRCm39) |
|
probably null |
Het |
Zfp292 |
A |
G |
4: 34,806,426 (GRCm39) |
V2206A |
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 |
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 |
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'- AAGTAAGCGGTCAACTCGGAC -3'
(R):5'- ACCGGAACTACCAGATTGTCTTC -3'
Sequencing Primer
(F):5'- TCGGACACATGACTCAGGACTG -3'
(R):5'- GGAACTACCAGATTGTCTTCATCGTC -3'
|
Posted On |
2014-11-11 |