Incidental Mutation 'R8938:Mfsd6'
| ID |
680766 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfsd6
|
| Ensembl Gene |
ENSMUSG00000041439 |
| Gene Name |
major facilitator superfamily domain containing 6 |
| Synonyms |
2210010L05Rik, 9630025I22Rik, MMR2 |
| MMRRC Submission |
068711-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R8938 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
52695463-52766495 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 52748454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 137
(L137H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087701]
[ENSMUST00000156876]
|
| AlphaFold |
Q8CBH5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087701
AA Change: L137H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084991
Gene: ENSMUSG00000041439
AA Change: L137H
| 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 damaging
Transcript: ENSMUST00000156876
AA Change: L137H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122881
Gene: ENSMUSG00000041439
AA Change: L137H
| 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: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(4) : Targeted(4)
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
A |
G |
4: 73,861,424 (GRCm39) |
S59P |
probably damaging |
Het |
| Abcc8 |
G |
T |
7: 45,816,418 (GRCm39) |
H241N |
|
Het |
| Acsm1 |
T |
C |
7: 119,258,385 (GRCm39) |
S493P |
probably damaging |
Het |
| Agtr1a |
T |
C |
13: 30,565,049 (GRCm39) |
I38T |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,989,099 (GRCm39) |
I3461T |
probably benign |
Het |
| Bbox1 |
T |
A |
2: 110,100,529 (GRCm39) |
T223S |
probably benign |
Het |
| Brip1 |
T |
C |
11: 86,039,227 (GRCm39) |
K436E |
possibly damaging |
Het |
| Cdhr1 |
T |
A |
14: 36,809,405 (GRCm39) |
T299S |
probably benign |
Het |
| Cr2 |
T |
C |
1: 194,853,424 (GRCm39) |
D18G |
probably damaging |
Het |
| Cyp51 |
T |
C |
5: 4,150,202 (GRCm39) |
I174V |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,328,754 (GRCm39) |
Y3290N |
probably damaging |
Het |
| Fcho1 |
T |
G |
8: 72,169,790 (GRCm39) |
K111T |
possibly damaging |
Het |
| Firrm |
C |
T |
1: 163,789,541 (GRCm39) |
V665I |
probably benign |
Het |
| Gli2 |
A |
T |
1: 118,763,935 (GRCm39) |
D1405E |
probably damaging |
Het |
| Gsg1l2 |
A |
G |
11: 67,680,399 (GRCm39) |
H278R |
possibly damaging |
Het |
| H2-K2 |
T |
C |
17: 34,216,294 (GRCm39) |
H284R |
probably damaging |
Het |
| Ighv1-62-1 |
C |
T |
12: 115,350,735 (GRCm39) |
W5* |
probably null |
Het |
| Ighv1-81 |
T |
A |
12: 115,883,988 (GRCm39) |
T88S |
probably benign |
Het |
| Igkv4-57 |
T |
A |
6: 69,553,256 (GRCm39) |
M19L |
probably benign |
Het |
| Klk1b3 |
G |
T |
7: 43,849,729 (GRCm39) |
W38L |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,689,762 (GRCm39) |
S2835P |
probably damaging |
Het |
| Lhx8 |
T |
C |
3: 154,028,024 (GRCm39) |
N145S |
possibly damaging |
Het |
| Mmp12 |
GTAATAATAATAATAATAAT |
GTAATAATAATAATAAT |
9: 7,348,446 (GRCm39) |
|
probably benign |
Het |
| Mpst |
A |
T |
15: 78,294,270 (GRCm39) |
M1L |
possibly damaging |
Het |
| Mrpl2 |
T |
A |
17: 46,957,238 (GRCm39) |
|
probably benign |
Het |
| Mybpc3 |
T |
C |
2: 90,954,294 (GRCm39) |
V224A |
probably damaging |
Het |
| Nol4l |
T |
C |
2: 153,262,651 (GRCm39) |
D63G |
probably damaging |
Het |
| Or8g36 |
A |
T |
9: 39,422,910 (GRCm39) |
Y35* |
probably null |
Het |
| Patz1 |
C |
T |
11: 3,240,660 (GRCm39) |
T16I |
probably damaging |
Het |
| Pcdha3 |
A |
G |
18: 37,080,154 (GRCm39) |
I299V |
probably benign |
Het |
| Pcdhb18 |
G |
T |
18: 37,623,537 (GRCm39) |
R289L |
probably benign |
Het |
| Pcdhga6 |
A |
T |
18: 37,841,562 (GRCm39) |
R427S |
probably benign |
Het |
| Pcdhga8 |
T |
A |
18: 37,859,955 (GRCm39) |
V337E |
probably damaging |
Het |
| Pik3c2b |
T |
A |
1: 133,016,068 (GRCm39) |
W877R |
probably benign |
Het |
| Plcg2 |
T |
C |
8: 118,231,114 (GRCm39) |
|
probably null |
Het |
| Prp2 |
C |
A |
6: 132,577,581 (GRCm39) |
H289Q |
unknown |
Het |
| Rac2 |
A |
G |
15: 78,446,112 (GRCm39) |
L192P |
probably damaging |
Het |
| Rfx4 |
T |
A |
10: 84,675,936 (GRCm39) |
Y51N |
probably damaging |
Het |
| Rptn |
A |
T |
3: 93,302,332 (GRCm39) |
Q16L |
possibly damaging |
Het |
| Ryr1 |
C |
T |
7: 28,801,358 (GRCm39) |
G802D |
probably damaging |
Het |
| Shroom3 |
T |
C |
5: 93,090,930 (GRCm39) |
S1146P |
probably damaging |
Het |
| Stam |
T |
C |
2: 14,133,984 (GRCm39) |
|
probably null |
Het |
| Vmn2r100 |
A |
G |
17: 19,751,825 (GRCm39) |
M623V |
probably benign |
Het |
| Wdr90 |
G |
A |
17: 26,076,146 (GRCm39) |
R104C |
|
Het |
| Xkr7 |
T |
C |
2: 152,874,133 (GRCm39) |
F67L |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,842,063 (GRCm39) |
|
probably benign |
Het |
| Zfp609 |
C |
T |
9: 65,610,561 (GRCm39) |
A801T |
possibly damaging |
Het |
| Zfp974 |
A |
T |
7: 27,610,311 (GRCm39) |
H471Q |
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 |
|
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 |
|
|
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'- TGCACGTCCCTTTTCTGGAG -3'
(R):5'- CAATGACCTTCTCATCTCCAAGG -3'
Sequencing Primer
(F):5'- CCCTTTTCTGGAGCAATTTTGG -3'
(R):5'- GGAATGTCACCTAGCCA -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation