Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02687:Mfsd6'

303601

Institutional Source

Australian Phenomics Network (link to record)

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) question?

Stock #

IGL02687

Quality Score

Status

Chromosome

Chromosomal Location

52695463-52766495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52747834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 344 (S344P)

Ref Sequence

ENSEMBL: ENSMUSP00000122881 (fasta)

Gene Model

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

AlphaFold

Q8CBH5

Predicted Effect

probably benign
Transcript: ENSMUST00000087701
AA Change: S344P

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000084991
Gene: ENSMUSG00000041439
AA Change: S344P

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: S174P

SMART Domains

Protein: ENSMUSP00000115398
Gene: ENSMUSG00000041439
AA Change: S174P

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: S344P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122881
Gene: ENSMUSG00000041439
AA Change: S344P

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,005,058 (GRCm39)	V1315A	probably damaging	Het
Adam2	A	T	14: 66,306,639 (GRCm39)	C117S	probably damaging	Het
Arpp21	T	A	9: 111,894,883 (GRCm39)	R792*	probably null	Het
Atp13a3	A	G	16: 30,156,369 (GRCm39)	M938T	probably damaging	Het
Atp6v0a2	C	T	5: 124,791,206 (GRCm39)	T545M	possibly damaging	Het
BC051019	T	C	7: 109,315,559 (GRCm39)	D84G	possibly damaging	Het
Bdkrb1	T	A	12: 105,571,091 (GRCm39)	L219H	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cfap46	T	C	7: 139,187,117 (GRCm39)	D2415G	probably damaging	Het
Csgalnact2	T	C	6: 118,101,376 (GRCm39)		probably null	Het
Cyp4a29	T	C	4: 115,108,397 (GRCm39)	C374R	probably damaging	Het
Dgkb	C	A	12: 38,680,628 (GRCm39)	P776Q	possibly damaging	Het
Duox1	A	T	2: 122,166,896 (GRCm39)	K1005M	probably damaging	Het
Dusp6	C	A	10: 99,102,044 (GRCm39)	F343L	probably damaging	Het
Espl1	C	T	15: 102,221,613 (GRCm39)		probably benign	Het
Filip1l	T	C	16: 57,391,490 (GRCm39)	S455P	probably benign	Het
Gm7995	A	G	14: 42,133,362 (GRCm39)	I81V	probably damaging	Het
Lingo4	T	C	3: 94,309,404 (GRCm39)	L114P	probably damaging	Het
Mpc1	G	A	17: 8,515,975 (GRCm39)	S162N	probably benign	Het
Myh11	T	A	16: 14,030,482 (GRCm39)	K1143*	probably null	Het
Nek10	T	C	14: 14,840,570 (GRCm38)	L152P	probably damaging	Het
Or52ab7	C	T	7: 102,978,607 (GRCm39)	R305*	probably null	Het
Or5ak25	T	A	2: 85,268,930 (GRCm39)	N191Y	possibly damaging	Het
Or6c217	T	C	10: 129,737,971 (GRCm39)	M203V	probably benign	Het
Rab11a	A	G	9: 64,633,980 (GRCm39)	I119T	probably damaging	Het
Spata31d1d	T	A	13: 59,875,678 (GRCm39)	H619L	possibly damaging	Het
Ulk4	A	T	9: 121,021,728 (GRCm39)	V661E	possibly damaging	Het
Vmn1r199	T	C	13: 22,566,961 (GRCm39)	V85A	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
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
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

Posted On

2015-04-16