Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00503:Mfsd6l'

332510

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mfsd6l

Ensembl Gene

ENSMUSG00000048329

Gene Name

major facilitator superfamily domain containing 6-like

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL00503

Quality Score

Status

Chromosome

Chromosomal Location

68556186-68558245 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68556473 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 50 (I50N)

Ref Sequence

ENSEMBL: ENSMUSP00000061601 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000053211
AA Change: I50N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000061601
Gene: ENSMUSG00000048329
AA Change: I50N

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	T	A	18: 68,950,102	R14*	probably null	Het
Abcb5	A	G	12: 118,907,601	S688P	probably benign	Het
Adgb	T	A	10: 10,406,099	Q597L	possibly damaging	Het
Aga	G	A	8: 53,518,921	V210I	probably benign	Het
Akap17b	A	G	X: 36,612,310	S515P	probably damaging	Het
Brinp3	A	T	1: 146,901,167	T451S	probably benign	Het
Cabcoco1	G	T	10: 68,541,805	T18N	possibly damaging	Het
Ccar2	C	T	14: 70,142,531	W402*	probably null	Het
Ccdc15	G	A	9: 37,320,473	A185V	probably damaging	Het
Ccdc50	G	A	16: 27,409,352	E90K	probably damaging	Het
Cckbr	G	A	7: 105,434,242	M217I	probably benign	Het
Clec16a	A	G	16: 10,694,649	T398A	possibly damaging	Het
Col4a1	A	G	8: 11,240,076		probably benign	Het
Cyp4v3	T	A	8: 45,307,021	E498V	probably damaging	Het
Dgke	T	C	11: 89,041,501	I488V	probably benign	Het
Dip2c	A	G	13: 9,567,898	D443G	probably damaging	Het
Edem3	T	G	1: 151,818,513	S852A	probably benign	Het
Fbxo8	T	A	8: 56,588,023	M158K	probably benign	Het
Galnt15	C	T	14: 32,052,356	T359M	possibly damaging	Het
Herc6	A	G	6: 57,607,145	N330D	probably benign	Het
Kdf1	T	C	4: 133,528,157	S62P	probably damaging	Het
Larp4	T	A	15: 99,987,421	I51N	probably damaging	Het
Mroh2b	A	G	15: 4,899,197	Y4C	probably benign	Het
Muc3	G	T	5: 137,137,123	Y343*	probably null	Het
Myom2	A	C	8: 15,114,289		probably null	Het
Npat	A	T	9: 53,572,649		probably benign	Het
Pamr1	A	T	2: 102,642,272	I639F	possibly damaging	Het
Pcsk2	A	G	2: 143,793,239	S345G	probably damaging	Het
Pcyt1a	A	G	16: 32,467,101	T197A	probably damaging	Het
Pkd1	A	G	17: 24,565,427	M316V	probably benign	Het
Plekhs1	T	C	19: 56,464,599		probably null	Het
Sema3e	G	T	5: 14,240,572	R557M	probably damaging	Het
Sgsm1	T	C	5: 113,276,142	N154S	probably benign	Het
Smg1	A	T	7: 118,185,483		probably benign	Het
Sp110	A	C	1: 85,577,329	F434C	probably benign	Het
Spats1	A	T	17: 45,454,085		probably null	Het
Tnfaip6	T	G	2: 52,055,847	V235G	probably damaging	Het
Trim34a	A	T	7: 104,261,331	T447S	probably damaging	Het
Tut1	G	A	19: 8,959,096	A95T	probably damaging	Het
Urgcp	C	T	11: 5,716,448	R630Q	possibly damaging	Het
Vmn1r125	G	T	7: 21,272,181	M1I	probably null	Het
Vmn2r99	A	G	17: 19,378,854	T267A	probably benign	Het
Wdr5	A	G	2: 27,520,867	K162E	probably benign	Het
Zscan26	T	G	13: 21,445,101	K285Q	probably damaging	Het

Other mutations in Mfsd6l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02292:Mfsd6l	APN	11	68557750	missense	probably benign	0.00
R0086:Mfsd6l	UTSW	11	68556565	missense	probably benign	0.26
R0180:Mfsd6l	UTSW	11	68556545	missense	possibly damaging	0.87
R1547:Mfsd6l	UTSW	11	68556608	missense	probably damaging	0.98
R4831:Mfsd6l	UTSW	11	68556505	missense	probably benign	0.00
R4881:Mfsd6l	UTSW	11	68557922	missense	probably benign	0.04
R5237:Mfsd6l	UTSW	11	68557270	missense	probably benign	0.26
R5244:Mfsd6l	UTSW	11	68557175	missense	possibly damaging	0.94
R5867:Mfsd6l	UTSW	11	68557210	missense	possibly damaging	0.94
R5961:Mfsd6l	UTSW	11	68556542	missense	possibly damaging	0.69
R7337:Mfsd6l	UTSW	11	68557283	missense	possibly damaging	0.93
R7343:Mfsd6l	UTSW	11	68557048	missense	possibly damaging	0.74
R7526:Mfsd6l	UTSW	11	68558038	missense	probably damaging	1.00
R7686:Mfsd6l	UTSW	11	68557226	missense	probably benign	0.01
R7715:Mfsd6l	UTSW	11	68557550	missense	probably damaging	1.00
R8555:Mfsd6l	UTSW	11	68557072	missense	probably benign	0.05
Z1177:Mfsd6l	UTSW	11	68556982	missense	possibly damaging	0.80
Z1177:Mfsd6l	UTSW	11	68557714	missense	probably damaging	1.00

Posted On

2015-08-05