Mutagenetix > Incidental Mutation

Incidental Mutation 'R6120:Mfsd1'

485700

Institutional Source

Beutler Lab

Gene Symbol

Mfsd1

Ensembl Gene

ENSMUSG00000027775

Gene Name

major facilitator superfamily domain containing 1

Synonyms

1200003O06Rik

MMRRC Submission

044268-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6120 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67490101-67511564 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 67501718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 246 (Q246*)

Ref Sequence

ENSEMBL: ENSMUSP00000029344 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029344]

AlphaFold

Q9DC37

Predicted Effect

probably null
Transcript: ENSMUST00000029344
AA Change: Q246*

SMART Domains

Protein: ENSMUSP00000029344
Gene: ENSMUSG00000027775
AA Change: Q246*

Domain	Start	End	E-Value	Type
Pfam:MFS_1	45	404	2.3e-31	PFAM
Pfam:MFS_2	175	443	2.9e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192776

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.6%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,638,795 (GRCm39)	V398E	possibly damaging	Het
Ankef1	A	G	2: 136,392,296 (GRCm39)	N495S	probably benign	Het
Bpifb3	G	T	2: 153,773,363 (GRCm39)	V428L	probably benign	Het
Btd	G	A	14: 31,363,065 (GRCm39)		probably benign	Het
Ccdc178	A	G	18: 22,230,785 (GRCm39)	L362S	probably benign	Het
Ccdc33	G	A	9: 57,993,883 (GRCm39)	P88S	probably damaging	Het
Cdk14	A	T	5: 4,944,029 (GRCm39)	D385E	probably damaging	Het
Chrna4	A	G	2: 180,666,599 (GRCm39)	L613P	probably damaging	Het
Cnot3	T	A	7: 3,648,335 (GRCm39)		probably null	Het
Csf1	T	A	3: 107,661,170 (GRCm39)	I116L	probably damaging	Het
Csrp2	G	T	10: 110,775,140 (GRCm39)	A192S	probably benign	Het
Dnah9	T	C	11: 66,038,225 (GRCm39)	T104A	probably benign	Het
Eml1	C	T	12: 108,493,983 (GRCm39)	P593S	probably damaging	Het
Entpd2	T	A	2: 25,289,478 (GRCm39)	I320N	probably benign	Het
Exosc9	A	T	3: 36,608,821 (GRCm39)	N140I	probably damaging	Het
Fam186a	T	C	15: 99,838,244 (GRCm39)	T2667A	probably benign	Het
Fes	T	C	7: 80,030,615 (GRCm39)	D558G	probably damaging	Het
Fgfr2	G	T	7: 129,830,420 (GRCm39)	T186K	probably benign	Het
Fnip1	A	G	11: 54,400,826 (GRCm39)	E1075G	probably benign	Het
Gbf1	A	G	19: 46,267,760 (GRCm39)	I1203V	possibly damaging	Het
Gja1	T	A	10: 56,264,601 (GRCm39)	M320K	probably benign	Het
Gm5431	A	G	11: 48,785,608 (GRCm39)	Y256H	probably benign	Het
Gpr20	C	T	15: 73,567,853 (GRCm39)	V179M	probably damaging	Het
Greb1	T	G	12: 16,758,622 (GRCm39)	D698A	probably damaging	Het
Hook2	A	G	8: 85,724,754 (GRCm39)	E500G	probably damaging	Het
Kif13b	A	T	14: 64,989,007 (GRCm39)	N796I	probably damaging	Het
Kif1a	C	T	1: 92,952,296 (GRCm39)		probably null	Het
Lama1	T	C	17: 68,087,612 (GRCm39)		probably null	Het
Mkrn3	A	G	7: 62,069,282 (GRCm39)	S170P	probably benign	Het
Ms4a6b	A	G	19: 11,499,059 (GRCm39)	M58V	probably benign	Het
Muc4	T	C	16: 32,577,169 (GRCm39)	V2223A	unknown	Het
Mycbp2	A	T	14: 103,513,323 (GRCm39)	V811D	probably benign	Het
Or5p59	A	T	7: 107,703,340 (GRCm39)	N275Y	probably damaging	Het
Or6c215	G	A	10: 129,637,689 (GRCm39)	A235V	probably damaging	Het
Or6c215	C	A	10: 129,637,690 (GRCm39)	A235S	probably damaging	Het
Or9g4b	T	C	2: 85,616,685 (GRCm39)	F277L	probably damaging	Het
Pcsk2	A	G	2: 143,643,031 (GRCm39)	E436G	probably damaging	Het
Pet100	T	G	8: 3,671,764 (GRCm39)		probably null	Het
Pira2	A	G	7: 3,844,553 (GRCm39)	Y493H	probably damaging	Het
Prkdc	C	A	16: 15,557,335 (GRCm39)	R2213S	probably benign	Het
Prmt2	A	G	10: 76,045,280 (GRCm39)	I342T	possibly damaging	Het
Psmc6	A	G	14: 45,586,130 (GRCm39)	E381G	possibly damaging	Het
Rrm1	G	A	7: 102,110,063 (GRCm39)		probably null	Het
Sema3c	A	G	5: 17,932,630 (GRCm39)	D711G	probably benign	Het
Sgcb	T	C	5: 73,798,153 (GRCm39)	E103G	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,255,848 (GRCm39)	S957P	probably damaging	Het
Slc26a2	A	G	18: 61,332,489 (GRCm39)	V314A	possibly damaging	Het
Smarca5	G	T	8: 81,438,372 (GRCm39)	H655N	probably damaging	Het
Sspo	T	A	6: 48,442,510 (GRCm39)	S2002T	probably damaging	Het
Sync	T	C	4: 129,187,544 (GRCm39)	L192P	probably damaging	Het
Ush2a	T	C	1: 188,090,800 (GRCm39)	M477T	probably benign	Het
Vav3	C	T	3: 109,571,681 (GRCm39)	T201M	probably damaging	Het
Vcam1	A	G	3: 115,918,049 (GRCm39)	V304A	probably damaging	Het
Vmn2r115	T	A	17: 23,565,003 (GRCm39)	W297R	probably damaging	Het
Vmn2r120	T	A	17: 57,832,973 (GRCm39)	M69L	probably benign	Het
Wdr11	A	G	7: 129,226,515 (GRCm39)	D771G	probably damaging	Het

Other mutations in Mfsd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01781:Mfsd1	APN	3	67,495,244 (GRCm39)	splice site	probably benign
IGL02186:Mfsd1	APN	3	67,503,928 (GRCm39)	missense	probably benign	0.00
IGL02209:Mfsd1	APN	3	67,505,465 (GRCm39)	splice site	probably benign
IGL02293:Mfsd1	APN	3	67,505,425 (GRCm39)	missense	probably damaging	1.00
IGL03132:Mfsd1	APN	3	67,495,273 (GRCm39)	missense	possibly damaging	0.53
edelweiss	UTSW	3	67,503,936 (GRCm39)	nonsense	probably null
Schneeweiss	UTSW	3	67,492,995 (GRCm39)	missense	possibly damaging	0.79
white	UTSW	3	67,497,162 (GRCm39)	critical splice acceptor site	probably null
R0948:Mfsd1	UTSW	3	67,504,067 (GRCm39)	missense	possibly damaging	0.61
R2355:Mfsd1	UTSW	3	67,508,668 (GRCm39)	missense	probably damaging	1.00
R3407:Mfsd1	UTSW	3	67,504,046 (GRCm39)	missense	possibly damaging	0.70
R3408:Mfsd1	UTSW	3	67,504,046 (GRCm39)	missense	possibly damaging	0.70
R3729:Mfsd1	UTSW	3	67,490,298 (GRCm39)	missense	probably benign	0.03
R3749:Mfsd1	UTSW	3	67,490,286 (GRCm39)	missense	probably benign	0.09
R4405:Mfsd1	UTSW	3	67,507,943 (GRCm39)	missense	probably benign	0.07
R4867:Mfsd1	UTSW	3	67,495,320 (GRCm39)	critical splice donor site	probably null
R5429:Mfsd1	UTSW	3	67,507,293 (GRCm39)	missense	probably damaging	1.00
R5456:Mfsd1	UTSW	3	67,497,166 (GRCm39)	missense	probably benign	0.28
R5892:Mfsd1	UTSW	3	67,497,162 (GRCm39)	critical splice acceptor site	probably null
R6091:Mfsd1	UTSW	3	67,507,270 (GRCm39)	splice site	probably null
R6671:Mfsd1	UTSW	3	67,492,995 (GRCm39)	missense	possibly damaging	0.79
R6752:Mfsd1	UTSW	3	67,503,936 (GRCm39)	nonsense	probably null
R6799:Mfsd1	UTSW	3	67,507,314 (GRCm39)	missense	probably damaging	0.97
R7117:Mfsd1	UTSW	3	67,507,391 (GRCm39)	splice site	probably null
R9748:Mfsd1	UTSW	3	67,499,910 (GRCm39)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- AGCTGTGATGAAGTTTGCCTGC -3'
(R):5'- TTTGCTGAAACATTACAAGGGG -3'

Sequencing Primer
(F):5'- GCATCAGAGGCTTTTCTTACAG -3'
(R):5'- GGGGGATACAAACAAAAATGGAG -3'

Posted On

2017-08-16