Mutagenetix > Incidental Mutation

Incidental Mutation 'R7170:Mfsd6'

558160

Institutional Source

Beutler Lab

Gene Symbol

Mfsd6

Ensembl Gene

ENSMUSG00000041439

Gene Name

major facilitator superfamily domain containing 6

Synonyms

2210010L05Rik, 9630025I22Rik, MMR2

MMRRC Submission

045332-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R7170 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52695463-52766495 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 52701547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000084991 (fasta)

Gene Model

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

AlphaFold

Q8CBH5

Predicted Effect

probably null
Transcript: ENSMUST00000087701

SMART Domains

Protein: ENSMUSP00000084991
Gene: ENSMUSG00000041439

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

probably null
Transcript: ENSMUST00000087701

SMART Domains

Protein: ENSMUSP00000084991
Gene: ENSMUSG00000041439

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

probably null
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 null
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 null
Transcript: ENSMUST00000156876

SMART Domains

Protein: ENSMUSP00000122881
Gene: ENSMUSG00000041439

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

probably null
Transcript: ENSMUST00000156876

SMART Domains

Protein: ENSMUSP00000122881
Gene: ENSMUSG00000041439

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

Meta Mutation Damage Score

0.9496

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (81/81)

Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,836,654 (GRCm39)	T1214A	probably benign	Het
Acte1	T	C	7: 143,450,102 (GRCm39)	S285P	probably damaging	Het
Adgrf5	G	A	17: 43,757,029 (GRCm39)	V708M	possibly damaging	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Ankrd7	T	A	6: 18,868,389 (GRCm39)	Y170*	probably null	Het
Aplp2	T	C	9: 31,081,739 (GRCm39)	D236G	probably benign	Het
Apoa5	T	C	9: 46,181,437 (GRCm39)	M171T	probably benign	Het
Bcas3	T	C	11: 85,386,744 (GRCm39)	V393A	probably damaging	Het
Ccdc47	T	C	11: 106,093,304 (GRCm39)	N370S	probably benign	Het
Cfap77	A	T	2: 28,875,854 (GRCm39)	Y85*	probably null	Het
Col4a3	G	A	1: 82,693,630 (GRCm39)		probably null	Het
Crnn	T	A	3: 93,056,020 (GRCm39)	S269T	possibly damaging	Het
Crocc2	G	A	1: 93,121,704 (GRCm39)	A618T	possibly damaging	Het
D030056L22Rik	A	G	19: 18,690,737 (GRCm39)	K17R	possibly damaging	Het
Emx1	G	A	6: 85,164,983 (GRCm39)	G20D	probably benign	Het
Fabp3	A	G	4: 130,207,763 (GRCm39)	D88G	probably benign	Het
Fam124a	A	C	14: 62,824,629 (GRCm39)	D41A	probably damaging	Het
Fanca	T	C	8: 123,997,945 (GRCm39)	E1247G	probably damaging	Het
Fat3	T	C	9: 15,917,870 (GRCm39)	R1518G	probably damaging	Het
Fgf12	T	C	16: 28,263,931 (GRCm39)	I5V	probably benign	Het
Fscn2	C	A	11: 120,253,335 (GRCm39)	N267K	probably damaging	Het
Ftdc1	G	T	16: 58,436,091 (GRCm39)	C77*	probably null	Het
Fubp3	A	G	2: 31,488,632 (GRCm39)	T163A	probably benign	Het
Gask1a	G	T	9: 121,807,301 (GRCm39)	A482S	probably damaging	Het
Gne	A	G	4: 44,040,361 (GRCm39)	L601P	possibly damaging	Het
Gphn	T	C	12: 78,730,663 (GRCm39)	V766A	possibly damaging	Het
Hsf1	G	T	15: 76,384,221 (GRCm39)	G402C	probably damaging	Het
Ift81	A	T	5: 122,693,596 (GRCm39)	Y604*	probably null	Het
Iqgap3	T	A	3: 88,009,370 (GRCm39)	I768N	probably damaging	Het
Kazald1	A	T	19: 45,066,855 (GRCm39)	D218V	probably benign	Het
Kmt2a	T	C	9: 44,722,018 (GRCm39)	N3776D	unknown	Het
Ktn1	T	C	14: 47,943,867 (GRCm39)	L872S	probably damaging	Het
Lama3	T	G	18: 12,537,133 (GRCm39)	F259L	probably benign	Het
Mical3	A	T	6: 120,950,694 (GRCm39)		probably null	Het
Mob3b	A	G	4: 35,083,839 (GRCm39)	Y117H	probably damaging	Het
Mrpl2	G	A	17: 46,959,181 (GRCm39)	G95D	probably damaging	Het
Mstn	A	T	1: 53,105,554 (GRCm39)	I299F	probably damaging	Het
Mta3	C	T	17: 84,022,091 (GRCm39)	R49W	probably damaging	Het
Mylk3	A	G	8: 86,077,114 (GRCm39)	F574L	probably damaging	Het
Naca	T	A	10: 127,875,990 (GRCm39)	S341T	unknown	Het
Ncoa1	T	C	12: 4,299,722 (GRCm39)	D1401G	probably benign	Het
Nedd4	T	A	9: 72,577,381 (GRCm39)	Y69N	probably benign	Het
Nin	T	C	12: 70,091,013 (GRCm39)	T801A		Het
Nsd1	T	A	13: 55,409,439 (GRCm39)	L1336*	probably null	Het
Nudt16l2	C	A	9: 105,020,600 (GRCm39)		probably null	Het
Oprk1	G	A	1: 5,672,619 (GRCm39)	R252H	probably damaging	Het
Or4c10b	A	T	2: 89,711,397 (GRCm39)	T76S	possibly damaging	Het
Or4c10b	A	G	2: 89,711,185 (GRCm39)	N5S	probably benign	Het
Or5w15	C	T	2: 87,568,056 (GRCm39)	G204D	probably damaging	Het
Pcdhga11	T	C	18: 37,889,717 (GRCm39)	F242L	probably damaging	Het
Pof1b	A	G	X: 111,554,042 (GRCm39)	I544T	probably benign	Het
Pold1	T	C	7: 44,191,572 (GRCm39)	H138R	possibly damaging	Het
Ptprd	A	T	4: 75,990,199 (GRCm39)	D504E	probably benign	Het
Rabgap1l	A	G	1: 160,472,935 (GRCm39)	V501A	probably damaging	Het
Rimklb	T	C	6: 122,429,697 (GRCm39)	N233S	probably benign	Het
Rnf213	A	G	11: 119,343,401 (GRCm39)	I3589V		Het
Rora	T	A	9: 69,280,472 (GRCm39)	C348*	probably null	Het
Sdhaf3	T	C	6: 6,956,043 (GRCm39)	V6A	probably benign	Het
Serpina3m	T	A	12: 104,355,777 (GRCm39)	L148Q	probably damaging	Het
Sik1	T	C	17: 32,067,746 (GRCm39)	D443G	possibly damaging	Het
Sim2	A	G	16: 93,923,559 (GRCm39)	T366A	probably benign	Het
Slc32a1	T	C	2: 158,453,243 (GRCm39)	F28L	probably damaging	Het
Sorbs1	A	T	19: 40,314,573 (GRCm39)	Y746*	probably null	Het
Speer4b	T	A	5: 27,703,821 (GRCm39)	N106I	possibly damaging	Het
Sphkap	A	G	1: 83,243,706 (GRCm39)	S1269P	probably damaging	Het
Tcf4	T	C	18: 69,766,649 (GRCm39)	V205A	probably damaging	Het
Thsd7a	C	T	6: 12,352,090 (GRCm39)	R1035H		Het
Tmprss11c	A	T	5: 86,385,478 (GRCm39)		probably null	Het
Trim50	A	G	5: 135,396,365 (GRCm39)	T438A	probably benign	Het
Ttc21a	C	T	9: 119,774,607 (GRCm39)	P287L	probably damaging	Het
Ttc41	C	T	10: 86,549,367 (GRCm39)	S187L	probably benign	Het
Ttll3	C	T	6: 113,390,839 (GRCm39)	P807L	probably benign	Het
Ttn	A	C	2: 76,597,696 (GRCm39)	V19739G	probably benign	Het
Usp15	C	A	10: 123,007,100 (GRCm39)	C127F	probably damaging	Het
Vmn2r100	G	T	17: 19,752,233 (GRCm39)	A822S	probably benign	Het
Zan	A	T	5: 137,461,756 (GRCm39)	V1141D	unknown	Het
Zfp457	A	T	13: 67,442,241 (GRCm39)	C111*	probably null	Het
Zfp758	C	T	17: 22,594,116 (GRCm39)	Q201*	probably null	Het
Zkscan2	T	C	7: 123,099,030 (GRCm39)	E54G	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
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
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
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'- TGAGTTTACCAAGACACCACTG -3'
(R):5'- TGCTCAATGAACTGTCGCTTC -3'

Sequencing Primer
(F):5'- CCACTGAGAACATGATGTCTGCAG -3'
(R):5'- TTGCCCCAGTGTTAAGACTG -3'

Posted On

2019-06-26