Mutagenetix > Incidental Mutation

Incidental Mutation 'R3407:Mfsd1'

258305

Institutional Source

Beutler Lab

Gene Symbol

Mfsd1

Ensembl Gene

ENSMUSG00000027775

Gene Name

major facilitator superfamily domain containing 1

Synonyms

1200003O06Rik

MMRRC Submission

040625-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3407 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67490101-67511564 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67504046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 346 (M346K)

Ref Sequence

ENSEMBL: ENSMUSP00000029344 (fasta)

Gene Model

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

AlphaFold

Q9DC37

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029344
AA Change: M346K

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029344
Gene: ENSMUSG00000027775
AA Change: M346K

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg4	A	T	X: 56,013,487 (GRCm39)	I2838F	probably damaging	Het
Agbl2	G	A	2: 90,621,962 (GRCm39)	V150I	probably damaging	Het
Ambra1	T	C	2: 91,740,652 (GRCm39)	S924P	probably damaging	Het
Arfgap3	T	C	15: 83,206,808 (GRCm39)	D260G	probably benign	Het
Bag3	AAAGG	AAAGGAAGG	7: 128,147,493 (GRCm39)		probably null	Het
Bag3	TAAAG	TAAAGAAAG	7: 128,147,492 (GRCm39)		probably null	Het
Cacnb3	T	C	15: 98,539,068 (GRCm39)	V167A	probably benign	Het
Carm1	C	T	9: 21,497,478 (GRCm39)	R347W	probably damaging	Het
Ccdc30	A	T	4: 119,181,778 (GRCm39)	F577I	possibly damaging	Het
Ces3a	T	A	8: 105,777,199 (GRCm39)	V174E	probably damaging	Het
Cobl	T	C	11: 12,325,830 (GRCm39)	Y215C	probably damaging	Het
Cybrd1	A	T	2: 70,948,470 (GRCm39)	M3L	probably damaging	Het
Dis3	A	G	14: 99,336,212 (GRCm39)	V98A	probably benign	Het
Dsg1c	G	A	18: 20,415,115 (GRCm39)		probably null	Het
Eif4a1	A	T	11: 69,561,089 (GRCm39)	V72E	probably damaging	Het
Fmn1	A	T	2: 113,195,400 (GRCm39)	I367F	unknown	Het
Fnbp1l	A	C	3: 122,345,799 (GRCm39)	W229G	probably damaging	Het
Inka1	C	T	9: 107,862,253 (GRCm39)	R23Q	probably damaging	Het
Ints6	A	T	14: 62,934,386 (GRCm39)	I707K	probably benign	Het
Ipo8	T	C	6: 148,723,207 (GRCm39)	D70G	probably benign	Het
Kif20b	T	C	19: 34,927,900 (GRCm39)	L1014P	probably damaging	Het
Kif9	T	C	9: 110,348,208 (GRCm39)	L677P	probably damaging	Het
Mbd1	A	G	18: 74,410,438 (GRCm39)	K414E	possibly damaging	Het
Mthfr	T	C	4: 148,139,518 (GRCm39)	I66T	probably damaging	Het
Myh10	T	G	11: 68,681,037 (GRCm39)	L989R	possibly damaging	Het
Ncan	G	A	8: 70,564,801 (GRCm39)	T271I	probably damaging	Het
Or10ag53	A	C	2: 87,083,243 (GRCm39)	T321P	probably benign	Het
Or9s23	A	G	1: 92,501,675 (GRCm39)	T261A	probably damaging	Het
Pate2	C	T	9: 35,582,262 (GRCm39)	T80I	probably damaging	Het
Pcdhb15	A	G	18: 37,607,442 (GRCm39)	T225A	possibly damaging	Het
Pde4dip	C	A	3: 97,661,784 (GRCm39)	L640F	probably damaging	Het
Plch1	A	G	3: 63,606,768 (GRCm39)		probably benign	Het
Pus3	C	T	9: 35,478,021 (GRCm39)	R418C	probably damaging	Het
Sall2	G	T	14: 52,565,561 (GRCm39)	N24K	probably benign	Het
Sh3bp4	G	T	1: 89,072,769 (GRCm39)	C539F	possibly damaging	Het
Smco3	A	G	6: 136,808,425 (GRCm39)	S150P	probably benign	Het
Spag17	G	T	3: 99,992,615 (GRCm39)	A1704S	probably benign	Het
Tecta	A	T	9: 42,249,150 (GRCm39)	I1904N	probably damaging	Het
Ttn	T	A	2: 76,536,281 (GRCm39)	K33280*	probably null	Het
Uggt2	T	C	14: 119,328,682 (GRCm39)	D90G	probably benign	Het
Vmn1r21	C	T	6: 57,820,877 (GRCm39)	G189D	probably damaging	Het
Zbtb10	A	G	3: 9,329,926 (GRCm39)	N428S	probably damaging	Het
Zfp407	G	A	18: 84,576,997 (GRCm39)	A1372V	probably benign	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
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
R6120:Mfsd1	UTSW	3	67,501,718 (GRCm39)	nonsense	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'- TTAGAGGAGCGAGGCTTTGC -3'
(R):5'- GATTCCCTACTAAATAAGCCAACTG -3'

Sequencing Primer
(F):5'- AGCGAGGCTTTGCTTTGG -3'
(R):5'- AGCCAACTGAAAAACAAACTTTATAG -3'

Posted On

2015-01-23