Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01083:Mfsd5'

52780

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mfsd5

Ensembl Gene

ENSMUSG00000045665

Gene Name

major facilitator superfamily domain containing 5

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.312) question?

Stock #

IGL01083

Quality Score

Status

Chromosome

Chromosomal Location

102187891-102190179 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102189525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 299 (Y299C)

Ref Sequence

ENSEMBL: ENSMUSP00000061997 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051341]

AlphaFold

Q921Y4

Predicted Effect

probably damaging
Transcript: ENSMUST00000051341
AA Change: Y299C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000061997
Gene: ENSMUSG00000045665
AA Change: Y299C

Domain	Start	End	E-Value	Type
Pfam:MFS_5	4	352	2.7e-84	PFAM
Pfam:MFS_1	46	393	2.6e-14	PFAM
transmembrane domain	407	429	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	C	15: 64,659,191 (GRCm39)	D533G	probably benign	Het
Adgb	A	G	10: 10,283,298 (GRCm39)	V136A	possibly damaging	Het
Aggf1	A	G	13: 95,492,917 (GRCm39)	V564A	probably damaging	Het
Atp1a2	T	C	1: 172,112,186 (GRCm39)	T570A	probably benign	Het
Bicdl2	A	G	17: 23,887,105 (GRCm39)	Q464R	probably damaging	Het
Cacng5	C	T	11: 107,772,531 (GRCm39)	V106I	probably benign	Het
Chd8	C	A	14: 52,458,877 (GRCm39)	R792L	probably damaging	Het
Crybg2	A	T	4: 133,802,755 (GRCm39)	I844F	possibly damaging	Het
Dock4	G	A	12: 40,838,380 (GRCm39)		probably benign	Het
Ergic2	T	C	6: 148,096,769 (GRCm39)	T166A	probably benign	Het
Flrt2	A	T	12: 95,747,121 (GRCm39)	R486S	probably benign	Het
Flt3	T	C	5: 147,291,680 (GRCm39)	Y590C	probably damaging	Het
Fubp1	A	G	3: 151,927,871 (GRCm39)	E441G	probably damaging	Het
Gfpt1	A	G	6: 87,031,678 (GRCm39)	S107G	probably damaging	Het
Klra9	A	G	6: 130,166,729 (GRCm39)	L45P	possibly damaging	Het
Myo5b	T	A	18: 74,866,974 (GRCm39)		probably benign	Het
Obscn	G	A	11: 58,926,919 (GRCm39)	T5532M	probably damaging	Het
Or5ac25	G	A	16: 59,182,198 (GRCm39)	P128S	probably damaging	Het
Palld	A	G	8: 61,991,841 (GRCm39)	S165P	probably benign	Het
Pramel17	T	A	4: 101,692,729 (GRCm39)	M424L	probably benign	Het
Prokr1	A	T	6: 87,565,766 (GRCm39)	H26Q	probably benign	Het
Prrc2a	G	T	17: 35,375,177 (GRCm39)	R1158S	possibly damaging	Het
Rasgrp1	A	G	2: 117,115,549 (GRCm39)	W680R	probably benign	Het
Ryr3	A	G	2: 112,582,191 (GRCm39)		probably benign	Het
Sars1	A	G	3: 108,334,174 (GRCm39)	L528P	probably damaging	Het
Serpinb3b	T	A	1: 107,085,473 (GRCm39)	L89F	possibly damaging	Het
Slc38a6	T	C	12: 73,335,267 (GRCm39)	V70A	possibly damaging	Het
Son	G	A	16: 91,454,279 (GRCm39)	E1009K	probably damaging	Het
Thoc3	A	C	13: 54,615,633 (GRCm39)		probably benign	Het
Tlk2	T	A	11: 105,112,050 (GRCm39)	C88S	probably benign	Het
Tmem182	T	A	1: 40,844,977 (GRCm39)	F21Y	probably damaging	Het
Tmem214	G	A	5: 31,033,437 (GRCm39)	V557M	probably benign	Het
Zfp507	T	C	7: 35,493,463 (GRCm39)	T527A	probably benign	Het

Other mutations in Mfsd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01357:Mfsd5	APN	15	102,189,882 (GRCm39)	missense	probably benign
IGL02403:Mfsd5	APN	15	102,188,973 (GRCm39)	missense	probably benign	0.25
FR4340:Mfsd5	UTSW	15	102,189,596 (GRCm39)	missense	probably benign	0.11
R0387:Mfsd5	UTSW	15	102,189,531 (GRCm39)	missense	possibly damaging	0.70
R2912:Mfsd5	UTSW	15	102,189,743 (GRCm39)	missense	probably benign
R5328:Mfsd5	UTSW	15	102,189,447 (GRCm39)	missense	probably damaging	1.00
R5475:Mfsd5	UTSW	15	102,188,928 (GRCm39)	missense	probably damaging	0.99
R5759:Mfsd5	UTSW	15	102,189,513 (GRCm39)	missense	possibly damaging	0.77
R6005:Mfsd5	UTSW	15	102,189,927 (GRCm39)	missense	possibly damaging	0.83
R7373:Mfsd5	UTSW	15	102,189,427 (GRCm39)	missense	probably damaging	1.00
R7658:Mfsd5	UTSW	15	102,189,312 (GRCm39)	missense	probably benign	0.00
Z1177:Mfsd5	UTSW	15	102,189,690 (GRCm39)	missense	possibly damaging	0.95

Posted On

2013-06-21