Mutagenetix > Incidental Mutation

Incidental Mutation 'R5961:Mfsd6l'

471843

Institutional Source

Beutler Lab

Gene Symbol

Mfsd6l

Ensembl Gene

ENSMUSG00000048329

Gene Name

major facilitator superfamily domain containing 6-like

Synonyms

MMRRC Submission

043247-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R5961 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68447012-68449071 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68447368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 73 (Y73C)

Ref Sequence

ENSEMBL: ENSMUSP00000061601 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053211] [ENSMUST00000060441] [ENSMUST00000102613]

AlphaFold

Q8R3N2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053211
AA Change: Y73C

PolyPhen 2 Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000061601
Gene: ENSMUSG00000048329
AA Change: Y73C

Domain	Start	End	E-Value	Type
Pfam:MFS_1_like	28	88	1.6e-7	PFAM
transmembrane domain	284	303	N/A	INTRINSIC
transmembrane domain	318	340	N/A	INTRINSIC
Pfam:MFS_1	365	555	4e-11	PFAM
low complexity region	557	571	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000060441

SMART Domains

Protein: ENSMUSP00000052522
Gene: ENSMUSG00000046207

Domain	Start	End	E-Value	Type
Pfam:PI3K_1B_p101	7	306	7.4e-28	PFAM
low complexity region	310	324	N/A	INTRINSIC
Pfam:PI3K_1B_p101	394	755	1.2e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102613

SMART Domains

Protein: ENSMUSP00000099673
Gene: ENSMUSG00000046207

Domain	Start	End	E-Value	Type
Pfam:PI3K_1B_p101	3	335	1.8e-111	PFAM
Pfam:PI3K_1B_p101	332	752	1.6e-126	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131669

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153671

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr4	A	G	9: 103,976,338 (GRCm39)	L203P	probably damaging	Het
Aen	C	G	7: 78,556,907 (GRCm39)	H252D	probably damaging	Het
Alkbh6	T	A	7: 30,013,617 (GRCm39)		probably null	Het
Birc6	T	C	17: 74,953,596 (GRCm39)	V3286A	probably damaging	Het
Cacna1h	A	G	17: 25,596,246 (GRCm39)	M1925T	probably benign	Het
Caprin2	A	C	6: 148,765,038 (GRCm39)	S554R	probably damaging	Het
Celsr3	T	C	9: 108,708,993 (GRCm39)	S1280P	probably damaging	Het
Cfap57	T	C	4: 118,428,942 (GRCm39)	E1008G	probably benign	Het
Csmd1	A	G	8: 16,120,366 (GRCm39)	I1813T	probably damaging	Het
Dnah10	A	G	5: 124,888,546 (GRCm39)	E3050G	probably benign	Het
Dnah2	A	G	11: 69,321,974 (GRCm39)	F3782S	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dnajc17	T	C	2: 119,016,527 (GRCm39)	T64A	possibly damaging	Het
Dvl3	T	G	16: 20,349,729 (GRCm39)	S567R	possibly damaging	Het
Epb41l1	T	A	2: 156,363,706 (GRCm39)	S738R	probably benign	Het
Exph5	T	C	9: 53,288,555 (GRCm39)	W1879R	probably damaging	Het
Fam83a	T	A	15: 57,872,992 (GRCm39)	F274I	possibly damaging	Het
Ggt1	A	G	10: 75,421,736 (GRCm39)		probably null	Het
Ido2	C	T	8: 25,023,786 (GRCm39)	V351M	probably damaging	Het
Kcnt2	A	G	1: 140,435,440 (GRCm39)	E469G	possibly damaging	Het
Kdm2b	A	G	5: 123,070,724 (GRCm39)	S403P	probably benign	Het
Klhl2	C	T	8: 65,202,818 (GRCm39)	R460H	probably damaging	Het
Mlec	A	T	5: 115,288,159 (GRCm39)	C205*	probably null	Het
Mlx	T	C	11: 100,980,053 (GRCm39)	Y129H	probably damaging	Het
Mmadhc	T	C	2: 50,181,421 (GRCm39)	H83R	probably damaging	Het
Mmp16	T	C	4: 17,853,842 (GRCm39)	F41S	probably benign	Het
Mroh6	G	A	15: 75,759,617 (GRCm39)	Q187*	probably null	Het
Myh14	T	A	7: 44,272,518 (GRCm39)	E1437V	probably damaging	Het
Nrxn1	A	C	17: 90,762,371 (GRCm39)	L37R	probably damaging	Het
Or6c209	T	C	10: 129,483,723 (GRCm39)	M242T	possibly damaging	Het
Pkhd1l1	A	C	15: 44,322,859 (GRCm39)	R48S	probably damaging	Het
Prokr2	A	G	2: 132,215,595 (GRCm39)	Y128H	possibly damaging	Het
Prtg	T	C	9: 72,764,228 (GRCm39)	V567A	probably benign	Het
Rbis	T	C	3: 14,676,124 (GRCm39)	T26A	possibly damaging	Het
Srrm2	G	A	17: 24,039,083 (GRCm39)		probably benign	Het
Stat4	A	T	1: 52,104,543 (GRCm39)	I115L	possibly damaging	Het
Tnxb	G	A	17: 34,937,609 (GRCm39)	V3833M	probably damaging	Het
Ugt2b36	C	T	5: 87,228,724 (GRCm39)		probably null	Het
Usp45	A	C	4: 21,810,797 (GRCm39)	D331A	probably damaging	Het
Usp47	T	C	7: 111,652,523 (GRCm39)	S47P	probably damaging	Het
Vps53	A	G	11: 75,939,316 (GRCm39)	Y696H	probably damaging	Het
Zfp384	T	C	6: 125,000,997 (GRCm39)	I23T	probably damaging	Het
Zfp804a	A	G	2: 82,088,346 (GRCm39)	Y725C	probably benign	Het

Other mutations in Mfsd6l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Mfsd6l	APN	11	68,447,299 (GRCm39)	missense	probably damaging	1.00
IGL02292:Mfsd6l	APN	11	68,448,576 (GRCm39)	missense	probably benign	0.00
R0086:Mfsd6l	UTSW	11	68,447,391 (GRCm39)	missense	probably benign	0.26
R0180:Mfsd6l	UTSW	11	68,447,371 (GRCm39)	missense	possibly damaging	0.87
R1547:Mfsd6l	UTSW	11	68,447,434 (GRCm39)	missense	probably damaging	0.98
R4831:Mfsd6l	UTSW	11	68,447,331 (GRCm39)	missense	probably benign	0.00
R4881:Mfsd6l	UTSW	11	68,448,748 (GRCm39)	missense	probably benign	0.04
R5237:Mfsd6l	UTSW	11	68,448,096 (GRCm39)	missense	probably benign	0.26
R5244:Mfsd6l	UTSW	11	68,448,001 (GRCm39)	missense	possibly damaging	0.94
R5867:Mfsd6l	UTSW	11	68,448,036 (GRCm39)	missense	possibly damaging	0.94
R7337:Mfsd6l	UTSW	11	68,448,109 (GRCm39)	missense	possibly damaging	0.93
R7343:Mfsd6l	UTSW	11	68,447,874 (GRCm39)	missense	possibly damaging	0.74
R7526:Mfsd6l	UTSW	11	68,448,864 (GRCm39)	missense	probably damaging	1.00
R7686:Mfsd6l	UTSW	11	68,448,052 (GRCm39)	missense	probably benign	0.01
R7715:Mfsd6l	UTSW	11	68,448,376 (GRCm39)	missense	probably damaging	1.00
R8555:Mfsd6l	UTSW	11	68,447,898 (GRCm39)	missense	probably benign	0.05
R9015:Mfsd6l	UTSW	11	68,447,536 (GRCm39)	missense	probably benign	0.00
Z1177:Mfsd6l	UTSW	11	68,448,540 (GRCm39)	missense	probably damaging	1.00
Z1177:Mfsd6l	UTSW	11	68,447,808 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- GAATCCCGTAACCATGAGCC -3'
(R):5'- TAGGGGTCATGATCACAGTTTG -3'

Sequencing Primer
(F):5'- ACGTCCCCAGGGCACTAC -3'
(R):5'- ACAGTTTGTGTGACCCCCAG -3'

Posted On

2017-03-31