Mutagenetix > Incidental Mutations

Incidental Mutation 'R0043:Mfsd6'

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: 0.166) question?

Stock #

R0043 (G1)

Quality Score

Status

Validated

Chromosome

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
Z1177:Mfsd6	UTSW	1	52658501	missense	not run

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

1. Tashiro-Yamaji, J., Kubota, T., and Yoshida, R. (2006) Macrophage MHC Receptor 2: A Novel Receptor on Allograft (H-2D(d)K(d))-Induced Macrophage (H-2D(b)K(b)) Recognizing an MHC Class I Molecule, H-2K(d), in Mice. Gene. 384, 1-8.

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