Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02901:Mfsd6'

363594

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mfsd6

Ensembl Gene

ENSMUSG00000041439

Gene Name

major facilitator superfamily domain containing 6

Synonyms

MMR2, 9630025I22Rik, 2210010L05Rik

Accession Numbers

Ncbi RefSeq: NM_133829.2, NM_178081.4; MGI:1922925

Is this an essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

IGL02901

Quality Score

Status

Chromosome

Chromosomal Location

52656286-52727462 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52708473 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 411 (I411T)

Ref Sequence

ENSEMBL: ENSMUSP00000122881 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087701] [ENSMUST00000156876]

Predicted Effect

probably benign
Transcript: ENSMUST00000087701
AA Change: I411T

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000084991
Gene: ENSMUSG00000041439
AA Change: I411T

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

unknown
Transcript: ENSMUST00000147758
AA Change: I241T

SMART Domains

Protein: ENSMUSP00000115398
Gene: ENSMUSG00000041439
AA Change: I241T

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: I411T

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000122881
Gene: ENSMUSG00000041439
AA Change: I411T

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	A	T	2: 131,561,604	Y189N	probably damaging	Het
Ahdc1	A	G	4: 133,064,934	D1162G	possibly damaging	Het
Alpk2	A	G	18: 65,306,411	M637T	probably benign	Het
Arvcf	G	A	16: 18,398,242	A440T	probably damaging	Het
BC051665	A	T	13: 60,784,718	V51E	probably damaging	Het
Clca3a2	A	T	3: 144,816,768	V164E	probably damaging	Het
Cox6a2	A	C	7: 128,206,282	L5R	probably damaging	Het
Cpsf1	A	T	15: 76,599,496	L849*	probably null	Het
Dclk1	A	G	3: 55,487,787		probably benign	Het
Fam120b	T	A	17: 15,407,702		probably benign	Het
Iqub	A	G	6: 24,454,195	L563P	probably damaging	Het
Itgb3	A	T	11: 104,637,946	I300F	probably benign	Het
Mdga2	A	G	12: 66,797,809		probably benign	Het
Misp	A	T	10: 79,826,937	Y396F	possibly damaging	Het
Nhsl2	T	A	X: 102,079,243	V884D	probably benign	Het
Nxf7	A	T	X: 135,587,235		probably null	Het
Olfr120	T	A	17: 37,726,420	I132K	probably damaging	Het
Olfr1271	G	A	2: 90,265,708	H241Y	probably damaging	Het
Palld	T	A	8: 61,876,995	K283*	probably null	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Proc	T	G	18: 32,123,625	T330P	possibly damaging	Het
Prpf38a	T	C	4: 108,568,418	D221G	probably damaging	Het
Prss55	T	A	14: 64,077,127	N198I	probably damaging	Het
Rabggta	A	G	14: 55,721,681	S10P	probably benign	Het
Sbk2	A	G	7: 4,957,290	Y294H	possibly damaging	Het
Smyd1	A	G	6: 71,238,630	V115A	probably benign	Het
Trpm7	A	G	2: 126,807,287		probably null	Het
Ttc21a	A	G	9: 119,958,281	N751S	probably damaging	Het
Upk1a	A	T	7: 30,603,779	M241K	possibly damaging	Het
Vmn2r71	A	C	7: 85,619,262	E224D	probably benign	Het
Vmn2r81	C	T	10: 79,270,730	T514I	probably damaging	Het
Zkscan16	T	C	4: 58,946,283	W53R	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
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
R0043:Mfsd6	UTSW	1	52708652	nonsense	probably null
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

Posted On

2015-12-18