Mutagenetix > Incidental Mutation

Incidental Mutation 'R2116:Mfsd6'

233094

Institutional Source

Beutler Lab

Gene Symbol

Mfsd6

Ensembl Gene

ENSMUSG00000041439

Gene Name

major facilitator superfamily domain containing 6

Synonyms

2210010L05Rik, 9630025I22Rik, MMR2

MMRRC Submission

040120-MU

Accession Numbers

Essential gene?

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

Stock #

R2116 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52695463-52766495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 52700134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 671 (R671S)

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: R671S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000084991
Gene: ENSMUSG00000041439
AA Change: R671S

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

unknown
Transcript: ENSMUST00000147758
AA Change: R501S

SMART Domains

Protein: ENSMUSP00000115398
Gene: ENSMUSG00000041439
AA Change: R501S

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

noncoding transcript
Transcript: ENSMUST00000149887

Predicted Effect

probably benign
Transcript: ENSMUST00000156876
AA Change: R671S

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000122881
Gene: ENSMUSG00000041439
AA Change: R671S

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: ENSMUST00000188126

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	A	G	15: 94,253,243 (GRCm39)	C377R	probably damaging	Het
Adgrv1	T	C	13: 81,677,132 (GRCm39)	K1180E	probably benign	Het
Ankle1	A	G	8: 71,860,562 (GRCm39)	T340A	probably benign	Het
Armc2	A	T	10: 41,839,663 (GRCm39)	L434Q	probably damaging	Het
Ash1l	C	T	3: 88,890,571 (GRCm39)	L817F	probably benign	Het
Atm	C	T	9: 53,412,269 (GRCm39)	E960K	probably benign	Het
Bend5	G	T	4: 111,272,436 (GRCm39)	R22L	probably benign	Het
Cacng6	C	T	7: 3,479,020 (GRCm39)	T133I	probably damaging	Het
Cep120	G	A	18: 53,873,208 (GRCm39)	T41I	probably damaging	Het
Ciz1	T	C	2: 32,257,477 (GRCm39)	L174P	probably damaging	Het
Cmah	G	A	13: 24,612,880 (GRCm39)	D26N	probably benign	Het
Cnot1	A	C	8: 96,452,781 (GRCm39)	D2098E	probably damaging	Het
Cnot10	A	C	9: 114,455,504 (GRCm39)	S207R	probably damaging	Het
Col14a1	A	G	15: 55,271,160 (GRCm39)	T638A	unknown	Het
Coro1a	T	C	7: 126,301,194 (GRCm39)	E102G	probably damaging	Het
Ddx27	A	C	2: 166,869,684 (GRCm39)	D373A	probably benign	Het
Defb38	A	T	8: 19,073,483 (GRCm39)	Y63*	probably null	Het
Dhx37	A	G	5: 125,498,166 (GRCm39)	V681A	probably damaging	Het
Dmxl1	T	A	18: 50,011,884 (GRCm39)	L1347H	probably damaging	Het
Dnmt3l	C	A	10: 77,899,130 (GRCm39)	L110I	probably damaging	Het
Gcn1	A	T	5: 115,736,884 (GRCm39)	M1276L	probably benign	Het
Gfus	A	G	15: 75,797,991 (GRCm39)	F223S	probably damaging	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gm12790	G	A	4: 101,824,848 (GRCm39)	T140I	possibly damaging	Het
Golga3	A	T	5: 110,335,261 (GRCm39)	M192L	probably damaging	Het
H2-T22	A	T	17: 36,349,949 (GRCm39)		probably null	Het
Hectd2	C	A	19: 36,591,824 (GRCm39)	T675K	probably damaging	Het
Hinfp	T	C	9: 44,210,912 (GRCm39)	N116S	probably damaging	Het
Hoatz	A	G	9: 51,012,384 (GRCm39)	S79P	possibly damaging	Het
Hs6st3	T	A	14: 120,106,699 (GRCm39)	L369Q	probably damaging	Het
Ift74	A	G	4: 94,515,496 (GRCm39)	T138A	probably benign	Het
Ipo7	T	A	7: 109,650,325 (GRCm39)	Y792N	probably damaging	Het
Jak1	A	T	4: 101,036,872 (GRCm39)	I256N	probably damaging	Het
Kcnd2	T	A	6: 21,216,431 (GRCm39)	L45Q	probably damaging	Het
Klhl3	A	T	13: 58,166,805 (GRCm39)	V342E	probably damaging	Het
Krt28	A	C	11: 99,255,943 (GRCm39)	S439A	probably benign	Het
L3mbtl1	T	A	2: 162,801,990 (GRCm39)		probably null	Het
Lrch1	G	A	14: 75,022,971 (GRCm39)	P634L	probably damaging	Het
Lrp1	C	T	10: 127,412,362 (GRCm39)	W1314*	probably null	Het
Lrwd1	T	A	5: 136,159,332 (GRCm39)	Y431F	probably damaging	Het
Lyst	A	G	13: 13,810,286 (GRCm39)	E652G	probably damaging	Het
Mageb3	A	G	2: 121,785,033 (GRCm39)	V223A	probably damaging	Het
Map1b	G	T	13: 99,567,152 (GRCm39)	S1856R	unknown	Het
Mecom	T	A	3: 30,019,607 (GRCm39)	Q759L	probably damaging	Het
Mllt10	A	G	2: 18,167,380 (GRCm39)	N435S	probably benign	Het
Mta2	T	C	19: 8,920,880 (GRCm39)	I27T	probably damaging	Het
Ndufab1	A	G	7: 121,700,987 (GRCm39)	L20P	probably benign	Het
Nfatc2ip	T	A	7: 125,984,280 (GRCm39)	Y371F	probably damaging	Het
Nhlrc1	A	C	13: 47,167,661 (GRCm39)	S199A	probably benign	Het
Nipa1	G	T	7: 55,635,273 (GRCm39)	N113K	possibly damaging	Het
Nlgn1	T	A	3: 26,187,414 (GRCm39)	N157I	probably damaging	Het
Nlrp1a	T	A	11: 71,005,326 (GRCm39)	K630*	probably null	Het
Nmi	T	C	2: 51,838,719 (GRCm39)	T272A	probably benign	Het
Nr1i3	T	A	1: 171,046,163 (GRCm39)	L181Q	probably damaging	Het
Nrxn1	A	T	17: 91,011,705 (GRCm39)	I308K	probably damaging	Het
Nup50l	A	T	6: 96,141,841 (GRCm39)	V401E	probably damaging	Het
Or14a256	T	C	7: 86,265,286 (GRCm39)	D189G	probably benign	Het
Or52z15	T	C	7: 103,332,519 (GRCm39)	I188T	probably damaging	Het
Or5al7	A	T	2: 85,993,073 (GRCm39)	Y73*	probably null	Het
Or8g50	T	A	9: 39,648,600 (GRCm39)	M163K	probably damaging	Het
Osgin2	G	A	4: 16,008,648 (GRCm39)	T51M	probably damaging	Het
Pkd1l2	T	A	8: 117,757,461 (GRCm39)	T1526S	possibly damaging	Het
Pkhd1l1	G	T	15: 44,432,878 (GRCm39)	A3378S	probably damaging	Het
Plg	A	T	17: 12,603,364 (GRCm39)	D90V	probably damaging	Het
Plppr3	A	T	10: 79,701,572 (GRCm39)	D423E	probably benign	Het
Prpf8	T	C	11: 75,378,547 (GRCm39)	V66A	possibly damaging	Het
Psg19	A	T	7: 18,528,180 (GRCm39)	Y188N	probably damaging	Het
Ptgs1	C	A	2: 36,127,708 (GRCm39)	S89*	probably null	Het
Ptx3	T	A	3: 66,132,187 (GRCm39)	I236N	probably damaging	Het
Pygm	A	G	19: 6,436,438 (GRCm39)	N100S	probably damaging	Het
Reps1	A	G	10: 18,000,668 (GRCm39)	E760G	probably damaging	Het
Rgs7	T	A	1: 174,918,639 (GRCm39)	N235I	probably damaging	Het
Rgsl1	T	A	1: 153,693,295 (GRCm39)	M629L	probably benign	Het
Rrh	T	C	3: 129,604,336 (GRCm39)	I288M	probably damaging	Het
Sctr	A	T	1: 119,959,312 (GRCm39)	D70V	probably damaging	Het
Sec11c	A	T	18: 65,933,720 (GRCm39)	T9S	probably benign	Het
Spty2d1	C	T	7: 46,645,933 (GRCm39)	G570D	probably damaging	Het
Stx1b	T	C	7: 127,410,077 (GRCm39)	E153G	probably damaging	Het
Synm	G	A	7: 67,383,343 (GRCm39)	R1440W	probably benign	Het
Tcof1	T	C	18: 60,965,857 (GRCm39)	E415G	possibly damaging	Het
Tgfb1i1	G	A	7: 127,851,977 (GRCm39)	R353H	probably damaging	Het
Thbs3	T	C	3: 89,126,699 (GRCm39)	F271S	probably damaging	Het
Tlr5	T	C	1: 182,803,194 (GRCm39)	W833R	probably damaging	Het
Tmem132b	A	G	5: 125,699,615 (GRCm39)	E92G	probably damaging	Het
Tmem221	T	C	8: 72,010,472 (GRCm39)	Y133C	probably damaging	Het
Tmem229b-ps	A	G	10: 53,351,552 (GRCm39)		noncoding transcript	Het
Tnxb	T	C	17: 34,891,201 (GRCm39)	C515R	probably damaging	Het
Trp53rka	T	A	2: 165,333,415 (GRCm39)	N158I	probably damaging	Het
Usp20	T	A	2: 30,906,317 (GRCm39)	C562S	probably damaging	Het
Usp31	C	T	7: 121,247,919 (GRCm39)	V1175M	probably benign	Het
Veph1	G	T	3: 65,964,610 (GRCm39)	N806K	probably benign	Het
Vmn1r223	G	T	13: 23,433,832 (GRCm39)	C142F	probably damaging	Het
Vmn2r80	A	T	10: 79,030,558 (GRCm39)	S795C	probably benign	Het
Wdr41	A	G	13: 95,151,537 (GRCm39)		probably null	Het
Zfp617	A	T	8: 72,686,009 (GRCm39)	H113L	probably benign	Het
Zfp715	T	A	7: 42,947,370 (GRCm39)	R863S	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
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'- TCCCATGTGTTTTGATGAACAAGG -3'
(R):5'- TAAGGTCCAAGGTGTGCACG -3'

Sequencing Primer
(F):5'- AGTAACGGTGCAGACGCC -3'
(R):5'- CCATGTCAGGACGGTCTTC -3'

Posted On

2014-09-18