Mutagenetix > Incidental Mutation

Incidental Mutation 'R1951:Mfsd6'

217257

Institutional Source

Beutler Lab

Gene Symbol

Mfsd6

Ensembl Gene

ENSMUSG00000041439

Gene Name

major facilitator superfamily domain containing 6

Synonyms

2210010L05Rik, 9630025I22Rik, MMR2

MMRRC Submission

039965-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R1951 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52695463-52766495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52748517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 116 (F116S)

Ref Sequence

ENSEMBL: ENSMUSP00000122881 (fasta)

Gene Model

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

AlphaFold

Q8CBH5

Predicted Effect

probably damaging
Transcript: ENSMUST00000087701
AA Change: F116S

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000084991
Gene: ENSMUSG00000041439
AA Change: F116S

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 benign
Transcript: ENSMUST00000147758

SMART Domains

Protein: ENSMUSP00000115398
Gene: ENSMUSG00000041439

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: F116S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122881
Gene: ENSMUSG00000041439
AA Change: F116S

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

0.5480

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

98% (84/86)

Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	T	7: 119,960,655 (GRCm39)	R706C	probably damaging	Het
Adcy3	T	C	12: 4,258,624 (GRCm39)	F847S	probably benign	Het
Alyref	C	G	11: 120,486,758 (GRCm39)	V168L	probably damaging	Het
Arhgap28	G	A	17: 68,208,336 (GRCm39)	A44V	probably benign	Het
Asap3	C	T	4: 135,954,767 (GRCm39)	R60*	probably null	Het
Baz1b	T	A	5: 135,245,593 (GRCm39)	N347K	probably benign	Het
Best2	T	A	8: 85,737,858 (GRCm39)	N179I	possibly damaging	Het
Bfar	C	T	16: 13,519,970 (GRCm39)	S276L	probably damaging	Het
Bloc1s3	A	G	7: 19,241,483 (GRCm39)	V15A	possibly damaging	Het
Borcs5	A	G	6: 134,687,230 (GRCm39)	H196R	unknown	Het
Calhm3	A	G	19: 47,140,256 (GRCm39)	L279P	probably benign	Het
Cand1	A	T	10: 119,043,925 (GRCm39)		probably benign	Het
Car15	T	C	16: 17,655,269 (GRCm39)	D57G	possibly damaging	Het
Casp12	G	A	9: 5,348,959 (GRCm39)		probably null	Het
Cd93	T	C	2: 148,283,778 (GRCm39)	T523A	probably benign	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Ckap5	A	G	2: 91,386,837 (GRCm39)		probably benign	Het
Col6a5	G	A	9: 105,814,156 (GRCm39)	R619W	unknown	Het
Colec12	G	A	18: 9,859,975 (GRCm39)		probably null	Het
Crmp1	G	A	5: 37,430,699 (GRCm39)	V222I	possibly damaging	Het
Crnkl1	G	A	2: 145,770,120 (GRCm39)	A241V	probably damaging	Het
Ctbp2	A	G	7: 132,616,756 (GRCm39)	S60P	probably benign	Het
Cyp2c68	T	C	19: 39,700,972 (GRCm39)	Y282C	probably benign	Het
Dhx36	T	C	3: 62,391,694 (GRCm39)	I551V	probably damaging	Het
Dlg5	T	A	14: 24,206,537 (GRCm39)		probably benign	Het
Dlgap1	A	T	17: 71,068,306 (GRCm39)	I300F	probably damaging	Het
Dmd	T	A	X: 82,874,123 (GRCm39)	I1342N	probably damaging	Het
Dnah6	T	A	6: 73,061,704 (GRCm39)	R2794*	probably null	Het
Fcgr1	G	A	3: 96,194,386 (GRCm39)	T167I	probably damaging	Het
Fgl1	G	T	8: 41,650,387 (GRCm39)	F187L	probably benign	Het
Fras1	T	A	5: 96,860,242 (GRCm39)	V2096E	probably benign	Het
Gm10647	A	G	9: 66,705,762 (GRCm39)		probably benign	Het
Gm14226	G	A	2: 154,866,255 (GRCm39)	D71N	possibly damaging	Het
Grip2	A	T	6: 91,760,829 (GRCm39)	I284N	probably damaging	Het
Hirip3	A	G	7: 126,462,038 (GRCm39)	R19G	probably damaging	Het
Ift70b	A	G	2: 75,767,586 (GRCm39)	L389P	probably damaging	Het
Irx5	A	G	8: 93,086,438 (GRCm39)	N174D	probably damaging	Het
Itgal	A	G	7: 126,929,317 (GRCm39)	D1078G	probably damaging	Het
Khdc3	T	C	9: 73,010,519 (GRCm39)	V123A	possibly damaging	Het
Klhl13	A	G	X: 23,127,820 (GRCm39)		probably benign	Het
Klhl42	T	C	6: 146,993,321 (GRCm39)	S98P	probably damaging	Het
Lrp5	T	C	19: 3,670,298 (GRCm39)	N602S	possibly damaging	Het
Lrrd1	A	T	5: 3,901,488 (GRCm39)	I598F	probably damaging	Het
Ltbp1	A	G	17: 75,458,372 (GRCm39)	T318A	probably benign	Het
Ncam1	T	C	9: 49,456,492 (GRCm39)	I486V	probably benign	Het
Nptx1	A	G	11: 119,434,006 (GRCm39)		probably null	Het
Nrg1	T	C	8: 32,408,221 (GRCm39)	Y4C	probably damaging	Het
Nsf	G	A	11: 103,773,702 (GRCm39)	R271*	probably null	Het
Or5d39	A	G	2: 87,979,641 (GRCm39)	S241P	possibly damaging	Het
Or8g24	T	A	9: 38,989,580 (GRCm39)	I154F	probably benign	Het
Or8k18	G	C	2: 86,085,440 (GRCm39)	T199S	probably benign	Het
Or8k21	T	A	2: 86,145,504 (GRCm39)	N42I	probably damaging	Het
Or8k24	A	T	2: 86,215,855 (GRCm39)	H302Q	probably benign	Het
Pax2	A	G	19: 44,777,271 (GRCm39)	T155A	probably benign	Het
Pdia4	A	G	6: 47,780,813 (GRCm39)	Y212H	probably damaging	Het
Pgr	A	G	9: 8,946,954 (GRCm39)		probably benign	Het
Pitpnm3	G	T	11: 71,965,450 (GRCm39)	H112N	possibly damaging	Het
Ppargc1b	G	T	18: 61,431,848 (GRCm39)	T1000K	possibly damaging	Het
Psd3	C	A	8: 68,416,139 (GRCm39)	C586F	probably benign	Het
Ptprm	A	T	17: 67,247,575 (GRCm39)	S587T	probably benign	Het
Rabep2	A	T	7: 126,037,736 (GRCm39)	R169S	possibly damaging	Het
Rad21l	T	C	2: 151,497,179 (GRCm39)	R309G	probably benign	Het
Rbm12	T	C	2: 155,939,133 (GRCm39)	R380G	probably damaging	Het
Selp	A	G	1: 163,954,081 (GRCm39)	N127S	probably benign	Het
Slc12a2	A	G	18: 58,012,467 (GRCm39)	T197A	possibly damaging	Het
Slc22a18	C	T	7: 143,029,984 (GRCm39)	T17I	probably damaging	Het
Sptbn4	T	C	7: 27,065,868 (GRCm39)	E2026G	possibly damaging	Het
Srf	A	T	17: 46,862,633 (GRCm39)	M285K	possibly damaging	Het
Tanc1	T	C	2: 59,622,156 (GRCm39)	V425A	possibly damaging	Het
Tle4	A	T	19: 14,493,721 (GRCm39)		probably null	Het
Tmem132e	A	G	11: 82,335,908 (GRCm39)	R905G	possibly damaging	Het
Tmem200c	A	T	17: 69,147,983 (GRCm39)	I189F	probably damaging	Het
Trappc13	T	C	13: 104,311,150 (GRCm39)	Q87R	probably benign	Het
Trpm7	A	T	2: 126,673,219 (GRCm39)	D511E	probably damaging	Het
Ttn	A	T	2: 76,632,634 (GRCm39)	I14140N	possibly damaging	Het
Virma	A	G	4: 11,513,907 (GRCm39)	D587G	probably benign	Het
Vmn1r72	A	G	7: 11,403,731 (GRCm39)	L239P	probably damaging	Het
Vmn2r68	A	G	7: 84,883,102 (GRCm39)	F217L	probably damaging	Het
Vps13c	T	C	9: 67,881,041 (GRCm39)		probably null	Het
Vrtn	T	C	12: 84,695,973 (GRCm39)	V241A	probably damaging	Het
Xdh	T	C	17: 74,214,653 (GRCm39)	E764G	probably damaging	Het
Zranb3	A	T	1: 127,927,136 (GRCm39)	V343D	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
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
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'- TTGGCAGAACAGTTACTGGGTG -3'
(R):5'- GCCATTCCCGAGGAGGAAATAG -3'

Sequencing Primer
(F):5'- CAGAACAGTTACTGGGTGACTTAC -3'
(R):5'- CATTCCCGAGGAGGAAATAGACTGG -3'

Posted On

2014-08-01