Incidental Mutation 'R6874:Mfsd6'
| ID |
536288 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd6
|
| Ensembl Gene |
ENSMUSG00000041439 |
| Gene Name |
major facilitator superfamily domain containing 6 |
| Synonyms |
2210010L05Rik, 9630025I22Rik, MMR2 |
| MMRRC Submission |
045029-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R6874 (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 52699868 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 760
(D760V)
|
| 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: D760V
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000084991
Gene: ENSMUSG00000041439
AA Change: D760V
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(4) : Targeted(4)
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,851,428 (GRCm39) |
D802G |
possibly damaging |
Het |
| Acsl5 |
A |
G |
19: 55,280,295 (GRCm39) |
T523A |
probably damaging |
Het |
| Adamts7 |
A |
T |
9: 90,070,784 (GRCm39) |
D635V |
probably damaging |
Het |
| Akr1c12 |
C |
A |
13: 4,322,959 (GRCm39) |
G217C |
probably benign |
Het |
| Astn1 |
C |
A |
1: 158,491,644 (GRCm39) |
S1007* |
probably null |
Het |
| Cntln |
T |
C |
4: 84,985,996 (GRCm39) |
L988P |
probably damaging |
Het |
| Dcps |
A |
T |
9: 35,087,263 (GRCm39) |
M1K |
probably null |
Het |
| Dnai1 |
T |
A |
4: 41,632,412 (GRCm39) |
L582Q |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,328,732 (GRCm39) |
Q7118L |
probably benign |
Het |
| Ehd2 |
T |
A |
7: 15,684,363 (GRCm39) |
T479S |
probably benign |
Het |
| Fbxl7 |
T |
C |
15: 26,553,028 (GRCm39) |
I80V |
probably benign |
Het |
| Fry |
T |
C |
5: 150,360,768 (GRCm39) |
V125A |
probably benign |
Het |
| Gm12695 |
A |
T |
4: 96,673,306 (GRCm39) |
I31K |
probably benign |
Het |
| Gm5591 |
T |
C |
7: 38,219,715 (GRCm39) |
E386G |
probably damaging |
Het |
| Helz |
G |
T |
11: 107,554,460 (GRCm39) |
R1219S |
probably damaging |
Het |
| Hes3 |
G |
T |
4: 152,371,695 (GRCm39) |
P85T |
possibly damaging |
Het |
| Igkv3-2 |
A |
T |
6: 70,675,822 (GRCm39) |
R44* |
probably null |
Het |
| Igsf9 |
A |
G |
1: 172,322,096 (GRCm39) |
T496A |
probably benign |
Het |
| Irf2bp1 |
G |
T |
7: 18,739,142 (GRCm39) |
A261S |
possibly damaging |
Het |
| Jph2 |
G |
A |
2: 163,181,407 (GRCm39) |
P586S |
probably benign |
Het |
| Klhl11 |
T |
C |
11: 100,363,031 (GRCm39) |
H175R |
probably benign |
Het |
| Ksr2 |
G |
T |
5: 117,894,401 (GRCm39) |
E847* |
probably null |
Het |
| Lats1 |
T |
A |
10: 7,586,615 (GRCm39) |
Y926N |
probably damaging |
Het |
| Lmbr1 |
A |
T |
5: 29,497,904 (GRCm39) |
L33H |
probably damaging |
Het |
| Lrp10 |
T |
C |
14: 54,705,670 (GRCm39) |
S287P |
possibly damaging |
Het |
| Map3k6 |
G |
A |
4: 132,977,967 (GRCm39) |
E976K |
probably benign |
Het |
| Muc16 |
G |
T |
9: 18,570,065 (GRCm39) |
S818* |
probably null |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Nagpa |
T |
C |
16: 5,013,921 (GRCm39) |
T306A |
probably benign |
Het |
| Nisch |
G |
T |
14: 30,898,641 (GRCm39) |
|
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 90,298,964 (GRCm39) |
V1028A |
probably damaging |
Het |
| Nucb1 |
T |
C |
7: 45,152,618 (GRCm39) |
N75S |
probably benign |
Het |
| Or11a4 |
T |
C |
17: 37,536,238 (GRCm39) |
V74A |
probably benign |
Het |
| Or1e1d-ps1 |
T |
G |
11: 73,819,068 (GRCm39) |
M6R |
probably null |
Het |
| Or51a43 |
T |
A |
7: 103,717,396 (GRCm39) |
I281F |
possibly damaging |
Het |
| Or5h23 |
T |
A |
16: 58,906,312 (GRCm39) |
Y178F |
probably benign |
Het |
| Or7g19 |
T |
A |
9: 18,856,777 (GRCm39) |
Y278N |
possibly damaging |
Het |
| Or8b57 |
A |
G |
9: 40,004,022 (GRCm39) |
V80A |
probably benign |
Het |
| Or8k24 |
C |
T |
2: 86,215,872 (GRCm39) |
V297I |
possibly damaging |
Het |
| Pik3c2a |
A |
G |
7: 115,993,540 (GRCm39) |
L409S |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,452,923 (GRCm39) |
D3949E |
probably benign |
Het |
| Prune2 |
C |
A |
19: 17,100,592 (GRCm39) |
P2032Q |
probably damaging |
Het |
| Ptms |
T |
C |
6: 124,891,194 (GRCm39) |
|
probably benign |
Het |
| Ptp4a3 |
A |
G |
15: 73,595,259 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,554,460 (GRCm39) |
I88M |
possibly damaging |
Het |
| Radil |
T |
A |
5: 142,492,557 (GRCm39) |
D357V |
probably damaging |
Het |
| Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
| Supt20 |
A |
G |
3: 54,635,175 (GRCm39) |
|
probably null |
Het |
| Thoc5 |
T |
C |
11: 4,851,261 (GRCm39) |
I69T |
probably damaging |
Het |
| Trib2 |
G |
C |
12: 15,865,338 (GRCm39) |
S79W |
probably damaging |
Het |
| Trpc6 |
A |
G |
9: 8,680,439 (GRCm39) |
D889G |
probably damaging |
Het |
| Usf3 |
T |
C |
16: 44,040,103 (GRCm39) |
S1528P |
probably benign |
Het |
| Vax1 |
A |
T |
19: 59,156,955 (GRCm39) |
V126E |
unknown |
Het |
| Vgf |
A |
G |
5: 137,060,386 (GRCm39) |
|
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,376 (GRCm39) |
C746S |
probably damaging |
Het |
| Vmn2r77 |
A |
G |
7: 86,451,286 (GRCm39) |
T391A |
probably benign |
Het |
| Zfp738 |
C |
A |
13: 67,818,382 (GRCm39) |
E536D |
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 |
|
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 |
|
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'- CACAGTTTCTGAAAGCAAGAGC -3'
(R):5'- TGTAAATAAACCGGCCTGGG -3'
Sequencing Primer
(F):5'- GCAAGAGCTGTATATTCCGGC -3'
(R):5'- TCCTCGCCTTGGGTGAC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation