Incidental Mutation 'PIT4466001:Mfsd6'
| ID |
555760 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4466001 (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 C
at 52748056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 270
(T270A)
|
| 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: T270A
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000084991
Gene: ENSMUSG00000041439
AA Change: T270A
| 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 damaging
Transcript: ENSMUST00000147758
AA Change: T100A
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000115398
Gene: ENSMUSG00000041439
AA Change: T100A
| 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: T270A
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000122881
Gene: ENSMUSG00000041439
AA Change: T270A
| 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: 93.5%
- 3x: 90.9%
- 10x: 85.1%
- 20x: 72.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(4) : Targeted(4)
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
C |
A |
9: 99,502,613 (GRCm39) |
P258T |
probably damaging |
Het |
| Adamts1 |
C |
A |
16: 85,593,579 (GRCm39) |
G719* |
probably null |
Het |
| Ano5 |
G |
T |
7: 51,194,599 (GRCm39) |
D111Y |
probably damaging |
Het |
| Arvcf |
T |
C |
16: 18,221,699 (GRCm39) |
V714A |
possibly damaging |
Het |
| AU021092 |
T |
A |
16: 5,038,253 (GRCm39) |
S85C |
probably damaging |
Het |
| Capn5 |
T |
C |
7: 97,773,195 (GRCm39) |
D603G |
probably benign |
Het |
| Cbr1 |
T |
A |
16: 93,406,692 (GRCm39) |
V136E |
probably damaging |
Het |
| Ccdc27 |
T |
C |
4: 154,126,184 (GRCm39) |
M102V |
unknown |
Het |
| Ccr1 |
T |
C |
9: 123,763,765 (GRCm39) |
Y255C |
probably damaging |
Het |
| Cdr1 |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
X: 60,228,130 (GRCm39) |
|
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,410,722 (GRCm39) |
T553A |
probably benign |
Het |
| Chd7 |
C |
T |
4: 8,753,101 (GRCm39) |
L533F |
unknown |
Het |
| Cntnap1 |
T |
C |
11: 101,068,131 (GRCm39) |
F48L |
probably benign |
Het |
| Cyb5r3 |
T |
C |
15: 83,046,064 (GRCm39) |
D84G |
probably damaging |
Het |
| Ddx47 |
T |
C |
6: 134,992,803 (GRCm39) |
I154T |
probably benign |
Het |
| Dennd2b |
G |
A |
7: 109,130,337 (GRCm39) |
A888V |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,185,624 (GRCm39) |
L99P |
probably benign |
Het |
| Dzank1 |
A |
G |
2: 144,325,293 (GRCm39) |
I558T |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,148,421 (GRCm39) |
D2609G |
possibly damaging |
Het |
| Fhl5 |
C |
A |
4: 25,211,194 (GRCm39) |
C166F |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 7,969,206 (GRCm39) |
L1553P |
probably damaging |
Het |
| Frem1 |
G |
A |
4: 82,890,374 (GRCm39) |
T1035I |
probably benign |
Het |
| Gm3099 |
A |
G |
14: 15,346,517 (GRCm39) |
M128V |
probably benign |
Het |
| Gpaa1 |
C |
T |
15: 76,218,940 (GRCm39) |
T594I |
probably benign |
Het |
| Hck |
C |
T |
2: 152,966,191 (GRCm39) |
T55M |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,471,123 (GRCm39) |
|
probably null |
Het |
| Ica1l |
C |
T |
1: 60,054,995 (GRCm39) |
|
probably null |
Het |
| Ilf3 |
T |
C |
9: 21,314,662 (GRCm39) |
Y765H |
unknown |
Het |
| Mast4 |
G |
A |
13: 102,941,226 (GRCm39) |
T277M |
probably damaging |
Het |
| Mib1 |
G |
A |
18: 10,775,541 (GRCm39) |
D498N |
probably benign |
Het |
| Naaladl1 |
A |
T |
19: 6,164,663 (GRCm39) |
T576S |
possibly damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,247,577 (GRCm39) |
I1909N |
probably benign |
Het |
| Negr1 |
A |
G |
3: 156,565,235 (GRCm39) |
D107G |
probably benign |
Het |
| Nlrc4 |
A |
G |
17: 74,734,114 (GRCm39) |
M933T |
probably benign |
Het |
| Nmnat3 |
T |
G |
9: 98,292,306 (GRCm39) |
F184V |
probably benign |
Het |
| Or4b12 |
A |
T |
2: 90,096,639 (GRCm39) |
V45E |
probably damaging |
Het |
| Or5p81 |
T |
C |
7: 108,266,743 (GRCm39) |
V40A |
possibly damaging |
Het |
| Or6c76 |
C |
T |
10: 129,612,142 (GRCm39) |
R120C |
probably benign |
Het |
| Or7a42 |
C |
A |
10: 78,791,676 (GRCm39) |
F212L |
probably benign |
Het |
| Pfkfb4 |
T |
C |
9: 108,828,222 (GRCm39) |
Y86H |
probably benign |
Het |
| Pgm5 |
T |
G |
19: 24,801,693 (GRCm39) |
Q178H |
probably damaging |
Het |
| Phrf1 |
C |
T |
7: 140,838,725 (GRCm39) |
T640M |
unknown |
Het |
| Pramel34 |
A |
C |
5: 93,784,147 (GRCm39) |
L439R |
probably damaging |
Het |
| Psg18 |
T |
G |
7: 18,083,241 (GRCm39) |
T305P |
probably benign |
Het |
| Skil |
T |
A |
3: 31,152,381 (GRCm39) |
V301D |
probably damaging |
Het |
| Slc36a1 |
C |
A |
11: 55,109,895 (GRCm39) |
P68T |
probably damaging |
Het |
| Smim6 |
T |
C |
11: 115,804,371 (GRCm39) |
F53L |
probably benign |
Het |
| Tpgs2 |
G |
A |
18: 25,301,652 (GRCm39) |
T5M |
possibly damaging |
Het |
| Trrap |
T |
A |
5: 144,765,410 (GRCm39) |
V2523D |
probably benign |
Het |
| Usp9y |
A |
T |
Y: 1,432,197 (GRCm39) |
D429E |
probably damaging |
Het |
| Vmn1r125 |
A |
G |
7: 21,006,818 (GRCm39) |
T239A |
probably benign |
Het |
| Vmn1r168 |
T |
C |
7: 23,240,421 (GRCm39) |
F93L |
probably damaging |
Het |
| Vmn1r88 |
A |
G |
7: 12,912,403 (GRCm39) |
N253S |
possibly damaging |
Het |
| Zfp644 |
C |
T |
5: 106,784,343 (GRCm39) |
A735T |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATGCGCTGTAGCCCATATC -3'
(R):5'- AAAAGGGACGTGCAATTGTC -3'
Sequencing Primer
(F):5'- TAGCCCATATCGGTCTCGGTG -3'
(R):5'- GTGCAATTGTCTGAAACAGAGCCC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation