Mutagenetix > Incidental Mutation

Incidental Mutation 'R5867:Mfsd6l'

454235

Institutional Source

Beutler Lab

Gene Symbol

Mfsd6l

Ensembl Gene

ENSMUSG00000048329

Gene Name

major facilitator superfamily domain containing 6-like

Synonyms

MMRRC Submission

043233-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R5867 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68447012-68449071 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 68448036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 296 (V296L)

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: V296L

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000061601
Gene: ENSMUSG00000048329
AA Change: V296L

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: 99.5%
10x: 97.3%
20x: 91.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 8,987,416 (GRCm39)	V2900A	probably damaging	Het
Akip1	A	G	7: 109,306,684 (GRCm39)	H127R	probably benign	Het
Alad	A	T	4: 62,431,203 (GRCm39)	Y56N	probably damaging	Het
Aldoart1	T	A	4: 72,770,770 (GRCm39)	M13L	probably benign	Het
Ap1g1	C	T	8: 110,545,614 (GRCm39)	A89V	probably damaging	Het
Ascc3	C	T	10: 50,718,279 (GRCm39)	R1991*	probably null	Het
Cd209b	T	C	8: 3,974,246 (GRCm39)	I89V	possibly damaging	Het
Cd36	T	C	5: 17,990,733 (GRCm39)	K469R	probably benign	Het
Cdh20	T	A	1: 109,976,581 (GRCm39)	I82N	probably damaging	Het
Clmn	G	T	12: 104,748,014 (GRCm39)	P511H	probably damaging	Het
Cyfip1	A	C	7: 55,576,061 (GRCm39)	D1077A	probably damaging	Het
Cyp2a5	T	C	7: 26,542,383 (GRCm39)	F462L	probably benign	Het
Dclk2	A	G	3: 86,699,166 (GRCm39)	*709Q	probably null	Het
Drd1	T	C	13: 54,208,182 (GRCm39)	T4A	probably benign	Het
Ephb2	C	T	4: 136,402,733 (GRCm39)	V513I	possibly damaging	Het
Fam43a	T	A	16: 30,420,277 (GRCm39)	V287E	probably benign	Het
Gm5134	A	G	10: 75,844,450 (GRCm39)	E602G	probably benign	Het
Gtsf2	C	T	15: 103,348,063 (GRCm39)	G149E	probably benign	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Klhl6	T	C	16: 19,801,570 (GRCm39)	T62A	probably benign	Het
Lamb1	T	A	12: 31,348,954 (GRCm39)	I662N	possibly damaging	Het
Lmod3	A	G	6: 97,224,963 (GRCm39)	V286A	probably damaging	Het
Mefv	T	C	16: 3,533,797 (GRCm39)	D158G	probably damaging	Het
Mff	T	C	1: 82,728,327 (GRCm39)		probably null	Het
Neu2	G	T	1: 87,524,478 (GRCm39)	Q154H	probably damaging	Het
Or5m3b	A	G	2: 85,871,795 (GRCm39)	I45M	probably benign	Het
Pdk4	T	A	6: 5,487,452 (GRCm39)	H266L	probably benign	Het
Pdrg1	T	C	2: 152,855,975 (GRCm39)	N40D	probably damaging	Het
Pi4k2a	T	C	19: 42,093,924 (GRCm39)		probably null	Het
Pkd1l2	T	A	8: 117,781,750 (GRCm39)	D765V	probably damaging	Het
Pspc1	A	T	14: 56,999,498 (GRCm39)		probably null	Het
Ptprm	T	C	17: 67,352,976 (GRCm39)		probably null	Het
Spata31d1d	T	C	13: 59,875,054 (GRCm39)	K827R	possibly damaging	Het
Srebf2	T	A	15: 82,053,987 (GRCm39)	F46Y	probably damaging	Het
Tfrc	T	A	16: 32,439,230 (GRCm39)	C365S	possibly damaging	Het
Ttc7	A	G	17: 87,629,900 (GRCm39)	H294R	possibly damaging	Het
Ubr7	T	A	12: 102,727,753 (GRCm39)	Y92N	probably damaging	Het
Vmn1r42	A	C	6: 89,821,761 (GRCm39)	Y269*	probably null	Het
Vmn2r1	A	G	3: 64,011,990 (GRCm39)	E617G	probably benign	Het
Vps13c	A	G	9: 67,889,904 (GRCm39)		probably null	Het
Vps50	T	C	6: 3,536,965 (GRCm39)	L312P	probably damaging	Het
Wdr82	A	G	9: 106,062,503 (GRCm39)	Q252R	probably benign	Het
Zcchc3	A	G	2: 152,256,444 (GRCm39)	F85S	probably damaging	Het
Zfhx3	T	C	8: 109,520,078 (GRCm39)	L400P	probably damaging	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
R5961:Mfsd6l	UTSW	11	68,447,368 (GRCm39)	missense	possibly damaging	0.69
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'- CAACTTGTCAAAGCCCCAGG -3'
(R):5'- AGGGACAGAGCTTTGATGGC -3'

Sequencing Primer
(F):5'- TGATCACTCCTCGAAAGGGTC -3'
(R):5'- CTTTGTAGCTGGGCCCCTG -3'

Posted On

2017-02-10