Mutagenetix > Incidental Mutation

Incidental Mutation 'R5892:Mfsd1'

457233

Institutional Source

Beutler Lab

Gene Symbol

Mfsd1

Ensembl Gene

ENSMUSG00000027775

Gene Name

major facilitator superfamily domain containing 1

Synonyms

1200003O06Rik

MMRRC Submission

044093-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5892 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67490101-67511564 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 67497162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029344 (fasta)

Gene Model

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

AlphaFold

Q9DC37

Predicted Effect

probably null
Transcript: ENSMUST00000029344

SMART Domains

Protein: ENSMUSP00000029344
Gene: ENSMUSG00000027775

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

0.9595

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930524J08Rik	G	T	5: 100,127,124 (GRCm39)		probably benign	Het
Abcb11	C	T	2: 69,091,844 (GRCm39)	A893T	probably damaging	Het
Adtrp	A	T	13: 41,981,682 (GRCm39)	N30K	probably benign	Het
Alms1	T	A	6: 85,597,885 (GRCm39)	S904T	probably damaging	Het
Cep170	T	A	1: 176,582,953 (GRCm39)		probably null	Het
Cntnap3	A	G	13: 64,946,994 (GRCm39)	V145A	probably damaging	Het
Dclre1a	T	C	19: 56,535,572 (GRCm39)	E4G	probably benign	Het
Depdc1a	G	C	3: 159,232,306 (GRCm39)	A686P	probably damaging	Het
Dnah7b	T	C	1: 46,376,753 (GRCm39)		probably null	Het
Enox1	A	G	14: 77,723,457 (GRCm39)		probably benign	Het
Fam107b	A	G	2: 3,779,601 (GRCm39)	E268G	probably damaging	Het
Fer1l6	A	G	15: 58,435,917 (GRCm39)	S437G	probably benign	Het
Flnb	C	A	14: 7,907,183 (GRCm38)	T1252K	probably damaging	Het
Fubp1	A	G	3: 151,923,951 (GRCm39)		probably benign	Het
Gm20402	G	A	3: 52,176,370 (GRCm39)	A50T	probably benign	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gzmk	C	T	13: 113,310,456 (GRCm39)		probably null	Het
Ino80	A	T	2: 119,270,028 (GRCm39)		probably benign	Het
Ints8	T	C	4: 11,223,813 (GRCm39)	T677A	probably damaging	Het
Kat6a	A	G	8: 23,428,305 (GRCm39)	E1220G	probably damaging	Het
Lrfn5	A	G	12: 61,890,204 (GRCm39)	T498A	probably damaging	Het
Lrp2	T	A	2: 69,273,120 (GRCm39)	T4043S	probably benign	Het
Malrd1	A	G	2: 15,619,078 (GRCm39)	N314S	probably benign	Het
Muc1	C	T	3: 89,138,300 (GRCm39)	P381S	probably benign	Het
Myh2	A	T	11: 67,076,002 (GRCm39)	K730*	probably null	Het
Nat3	T	A	8: 68,000,590 (GRCm39)	N156K	probably benign	Het
Nelfe	T	C	17: 35,073,645 (GRCm39)		probably benign	Het
Nlrp1a	A	T	11: 70,990,471 (GRCm39)	L927Q	probably damaging	Het
P4ha2	A	G	11: 54,011,014 (GRCm39)	Y343C	probably damaging	Het
Pclo	A	T	5: 14,571,185 (GRCm39)	Q190L	probably damaging	Het
Pde8a	A	G	7: 80,945,439 (GRCm39)	N183S	probably damaging	Het
Plekha2	C	T	8: 25,542,381 (GRCm39)	V278I	probably benign	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Plxnb1	T	C	9: 108,940,775 (GRCm39)	L1550P	probably damaging	Het
Ppox	C	T	1: 171,105,034 (GRCm39)	V385I	probably damaging	Het
Prdm16	T	C	4: 154,407,716 (GRCm39)	D1170G	possibly damaging	Het
Prmt5	A	T	14: 54,747,368 (GRCm39)	S470T	probably damaging	Het
Robo2	T	A	16: 73,692,668 (GRCm39)		probably benign	Het
Siglecg	G	A	7: 43,061,628 (GRCm39)		probably benign	Het
Slc30a5	T	C	13: 100,949,810 (GRCm39)	N367S	probably damaging	Het
Tex29	C	T	8: 11,904,288 (GRCm39)		probably benign	Het
Tmem117	T	A	15: 94,536,020 (GRCm39)	V18E	probably damaging	Het
Tmtc2	C	T	10: 105,249,366 (GRCm39)	M122I	probably benign	Het
Tpr	T	A	1: 150,283,151 (GRCm39)	N287K	probably benign	Het
Unc93b1	A	T	19: 3,993,632 (GRCm39)	D358V	probably damaging	Het
Vrk2	A	T	11: 26,484,372 (GRCm39)		probably benign	Het
Wdr24	A	T	17: 26,046,960 (GRCm39)	Q671L	probably benign	Het
Zfp110	C	T	7: 12,582,405 (GRCm39)	T351I	probably benign	Het
Zfp963	T	C	8: 70,196,027 (GRCm39)	D142G	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
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
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'- GTCAGTTGCCATCTTTGTCATG -3'
(R):5'- ACTTCTTCACATCCAAGTGTGC -3'

Sequencing Primer
(F):5'- GTCATGCTCATGGTCACACAG -3'
(R):5'- ACATCCAAGTGTGCTCTAGC -3'

Genotyping

Genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the mutation.

PCR Primers

R5892-Mfsd1_PCR_F: 5’- GTCAGTTGCCATCTTTGTCATG-3’

R5892-Mfsd1_PCR_R: 5’- ACTTCTTCACATCCAAGTGTGC-3’

Sequencing Primers

R5892-Mfsd1_SEQ_F: 5’- GTCATGCTCATGGTCACACAG-3’ 

R5892-Mfsd1_SEQ_R: 5’- ACATCCAAGTGTGCTCTAGC-3’ 

PCR program

1) 94°C 2:00

2) 94°C 0:30

3) 55°C 0:30

4) 72°C 1:00

5) repeat steps (2-4) 40X

6) 72°C 10:00

7) 4°C hold

The following sequence of 406 nucleotides is amplified:

3361 gtc

3421 agttgccatc tttgtcatgc tcatggtcac acagtcttgc ttcactgtgt cttactggct

3481 gaagccctta agctctcctc cattcaagaa gagacagaaa tcccacttct ctctgggagg

3541 aagaaaatgg ctaactggga tttctttcaa agctctgact tttcttcttc tacatttagg

3601 attggtggag agtccttagc agttgcccag aatacatatg ctgtgagttg gtttaaaggc

3661 aaagaattaa acctggtgtt tggacttcaa ctcagcatgg ccagaattgt aagtatggtg

3721 acggacgtgg tggggcccaa taggaagcac gagactgagt cttgtagtga tctcttcagt

3781 catagaaaga agtgtgctag agcacacttg gatgtgaaga agt

Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr. (+) = A>G).

Posted On

2017-02-15