Incidental Mutation 'R0043:Mfsd6'
ID | 16225 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mfsd6
|
Ensembl Gene |
ENSMUSG00000041439 |
Gene Name | major facilitator superfamily domain containing 6 |
Synonyms | MMR2, 9630025I22Rik, 2210010L05Rik |
MMRRC Submission |
038337-MU
|
Accession Numbers |
Ncbi RefSeq: NM_133829.2, NM_178081.4; MGI:1922925
|
Is this an essential gene? |
Probably non essential (E-score: 0.149)
|
Stock # | R0043 (G1)
|
Quality Score | |
Status |
Validated
|
Chromosome | 1 |
Chromosomal Location | 52656286-52727462 bp(-) (GRCm38) |
Type of Mutation | nonsense |
DNA Base Change (assembly) |
A to T
at 52708652 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 351
(Y351*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122881
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087701]
[ENSMUST00000156876]
|
Predicted Effect |
probably null
Transcript: ENSMUST00000087701
AA Change: Y351*
|
SMART Domains |
Protein: ENSMUSP00000084991 Gene: ENSMUSG00000041439 AA Change: Y351*
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 |
probably null
Transcript: ENSMUST00000147758
AA Change: Y181*
|
SMART Domains |
Protein: ENSMUSP00000115398 Gene: ENSMUSG00000041439 AA Change: Y181*
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 null
Transcript: ENSMUST00000156876
AA Change: Y351*
|
SMART Domains |
Protein: ENSMUSP00000122881 Gene: ENSMUSG00000041439 AA Change: Y351*
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
|
Meta Mutation Damage Score |
0.9755
|
Coding Region Coverage |
- 1x: 81.2%
- 3x: 72.1%
- 10x: 49.9%
- 20x: 30.2%
|
Validation Efficiency |
90% (56/62) |
Allele List at MGI |
All alleles(4) : Targeted(4)
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931408C20Rik |
T |
A |
1: 26,683,802 |
I766F |
possibly damaging |
Het |
Accs |
A |
G |
2: 93,841,885 |
Y213H |
probably benign |
Het |
Adcy9 |
A |
G |
16: 4,289,015 |
L982P |
probably benign |
Het |
Cntnap2 |
T |
A |
6: 46,483,983 |
V651E |
probably benign |
Het |
Cstf3 |
A |
T |
2: 104,645,085 |
|
probably benign |
Het |
Dnah1 |
T |
C |
14: 31,274,405 |
D2658G |
probably damaging |
Het |
Dsg4 |
T |
C |
18: 20,452,972 |
S240P |
probably damaging |
Het |
Dync2h1 |
C |
T |
9: 7,005,574 |
M3765I |
probably benign |
Het |
Fam160b2 |
A |
T |
14: 70,588,661 |
S304T |
probably benign |
Het |
Fbxw7 |
T |
C |
3: 84,972,567 |
|
probably benign |
Het |
Gata4 |
T |
C |
14: 63,203,301 |
|
probably benign |
Het |
Hyal1 |
T |
C |
9: 107,579,320 |
L152P |
probably benign |
Het |
Ifi207 |
T |
A |
1: 173,729,112 |
T694S |
possibly damaging |
Het |
Kalrn |
C |
A |
16: 34,054,906 |
G99W |
probably damaging |
Het |
Man1a2 |
A |
T |
3: 100,587,880 |
W448R |
probably damaging |
Het |
Miox |
C |
T |
15: 89,336,274 |
L189F |
possibly damaging |
Het |
Mki67 |
T |
C |
7: 135,700,581 |
D908G |
probably benign |
Het |
Nav3 |
A |
G |
10: 109,767,518 |
S1057P |
possibly damaging |
Het |
Rasgef1b |
T |
C |
5: 99,243,194 |
Y102C |
probably damaging |
Het |
Sbf1 |
A |
G |
15: 89,295,561 |
V1281A |
probably benign |
Het |
Sfmbt1 |
T |
A |
14: 30,816,807 |
S794R |
probably damaging |
Het |
Skint3 |
T |
A |
4: 112,277,623 |
V331E |
probably damaging |
Het |
Spata6 |
A |
T |
4: 111,780,805 |
R277S |
probably damaging |
Het |
Spink12 |
T |
C |
18: 44,107,696 |
C50R |
probably damaging |
Het |
Trappc11 |
A |
G |
8: 47,505,575 |
|
probably benign |
Het |
Ube2u |
G |
T |
4: 100,482,829 |
V66F |
possibly damaging |
Het |
Usp42 |
A |
C |
5: 143,714,710 |
V1186G |
probably benign |
Het |
Yme1l1 |
T |
C |
2: 23,187,803 |
I419T |
probably damaging |
Het |
|
Other mutations in Mfsd6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00490:Mfsd6
|
APN |
1 |
52708254 |
missense |
probably damaging |
1.00 |
IGL00820:Mfsd6
|
APN |
1 |
52708306 |
missense |
probably damaging |
1.00 |
IGL01518:Mfsd6
|
APN |
1 |
52709322 |
missense |
probably damaging |
1.00 |
IGL02111:Mfsd6
|
APN |
1 |
52708344 |
missense |
probably damaging |
1.00 |
IGL02517:Mfsd6
|
APN |
1 |
52663277 |
splice site |
probably benign |
|
IGL02687:Mfsd6
|
APN |
1 |
52708675 |
missense |
probably damaging |
0.99 |
IGL02887:Mfsd6
|
APN |
1 |
52708878 |
missense |
probably benign |
0.19 |
IGL02901:Mfsd6
|
APN |
1 |
52708473 |
missense |
probably benign |
0.07 |
IGL03030:Mfsd6
|
APN |
1 |
52709703 |
start codon destroyed |
probably null |
1.00 |
PIT4280001:Mfsd6
|
UTSW |
1 |
52660880 |
missense |
probably benign |
0.00 |
PIT4466001:Mfsd6
|
UTSW |
1 |
52708897 |
missense |
probably benign |
0.03 |
R0113:Mfsd6
|
UTSW |
1 |
52709189 |
missense |
probably damaging |
1.00 |
R0226:Mfsd6
|
UTSW |
1 |
52658690 |
intron |
probably benign |
|
R0302:Mfsd6
|
UTSW |
1 |
52709457 |
missense |
probably damaging |
1.00 |
R0613:Mfsd6
|
UTSW |
1 |
52658696 |
intron |
probably benign |
|
R1126:Mfsd6
|
UTSW |
1 |
52709511 |
missense |
probably benign |
0.16 |
R1368:Mfsd6
|
UTSW |
1 |
52708605 |
missense |
possibly damaging |
0.49 |
R1471:Mfsd6
|
UTSW |
1 |
52709557 |
missense |
probably benign |
0.32 |
R1733:Mfsd6
|
UTSW |
1 |
52709365 |
missense |
probably damaging |
1.00 |
R1768:Mfsd6
|
UTSW |
1 |
52660805 |
critical splice donor site |
probably null |
|
R1951:Mfsd6
|
UTSW |
1 |
52709358 |
missense |
probably damaging |
1.00 |
R2031:Mfsd6
|
UTSW |
1 |
52708854 |
missense |
probably benign |
0.04 |
R2116:Mfsd6
|
UTSW |
1 |
52660975 |
missense |
probably benign |
0.21 |
R2240:Mfsd6
|
UTSW |
1 |
52660819 |
missense |
probably damaging |
0.97 |
R2242:Mfsd6
|
UTSW |
1 |
52709598 |
missense |
probably benign |
0.03 |
R2303:Mfsd6
|
UTSW |
1 |
52676513 |
missense |
probably damaging |
0.98 |
R2382:Mfsd6
|
UTSW |
1 |
52708410 |
missense |
probably benign |
0.10 |
R4568:Mfsd6
|
UTSW |
1 |
52663289 |
nonsense |
probably null |
|
R4801:Mfsd6
|
UTSW |
1 |
52709596 |
missense |
probably benign |
0.08 |
R4802:Mfsd6
|
UTSW |
1 |
52709596 |
missense |
probably benign |
0.08 |
R4958:Mfsd6
|
UTSW |
1 |
52661024 |
missense |
probably damaging |
1.00 |
R5134:Mfsd6
|
UTSW |
1 |
52708356 |
missense |
possibly damaging |
0.80 |
R5827:Mfsd6
|
UTSW |
1 |
52662392 |
missense |
probably damaging |
1.00 |
R5844:Mfsd6
|
UTSW |
1 |
52658383 |
missense |
probably benign |
|
R6124:Mfsd6
|
UTSW |
1 |
52708252 |
missense |
probably damaging |
1.00 |
R6435:Mfsd6
|
UTSW |
1 |
52709444 |
nonsense |
probably null |
|
R6515:Mfsd6
|
UTSW |
1 |
52660961 |
missense |
probably damaging |
1.00 |
R6874:Mfsd6
|
UTSW |
1 |
52660709 |
missense |
probably benign |
0.02 |
R6878:Mfsd6
|
UTSW |
1 |
52708753 |
missense |
probably damaging |
0.98 |
R7111:Mfsd6
|
UTSW |
1 |
52709758 |
splice site |
probably null |
|
R7170:Mfsd6
|
UTSW |
1 |
52662388 |
critical splice donor site |
probably null |
|
R7242:Mfsd6
|
UTSW |
1 |
52709474 |
missense |
probably damaging |
0.98 |
R7548:Mfsd6
|
UTSW |
1 |
52663287 |
missense |
possibly damaging |
0.79 |
R7664:Mfsd6
|
UTSW |
1 |
52709053 |
missense |
probably benign |
0.00 |
R7686:Mfsd6
|
UTSW |
1 |
52662395 |
missense |
probably benign |
0.00 |
R7747:Mfsd6
|
UTSW |
1 |
52676547 |
missense |
probably benign |
0.05 |
R7763:Mfsd6
|
UTSW |
1 |
52708640 |
missense |
probably benign |
|
R8138:Mfsd6
|
UTSW |
1 |
52709512 |
missense |
probably benign |
|
R8150:Mfsd6
|
UTSW |
1 |
52708641 |
missense |
probably benign |
0.00 |
Z1177:Mfsd6
|
UTSW |
1 |
52658501 |
missense |
probably benign |
|
|
Protein Function and Prediction |
Mfsd6 encodes MMR2, a novel receptor for HLA-B62 on monocytes that is expressed in mouse brain and peripheral blood cells (1;2).
|
References |
2. Shimizu, T., Tashiro-Yamaji, J., Hayashi, M., Inoue, Y., Ibata, M., Kubota, T., Tanigawa, N., and Yoshida, R. (2010) HLA-B62 as a Possible Ligand for the Human Homologue of Mouse Macrophage MHC Receptor 2 (MMR2) on Monocytes. Gene. 454, 31-38.
|
Posted On | 2013-01-08 |
Science Writer | Anne Murray |