Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03356:Mfsd4b1'

419938

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mfsd4b1

Ensembl Gene

ENSMUSG00000038522

Gene Name

major facilitator superfamily domain containing 4B1

Synonyms

AI317395

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL03356

Quality Score

Status

Chromosome

Chromosomal Location

39877571-39901264 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 39878827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 357 (F357V)

Ref Sequence

ENSEMBL: ENSMUSP00000128324 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163705]

AlphaFold

Q8VCV9

Predicted Effect

probably damaging
Transcript: ENSMUST00000163705
AA Change: F357V

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128324
Gene: ENSMUSG00000038522
AA Change: F357V

Domain	Start	End	E-Value	Type
Pfam:MFS_1	1	369	1.9e-15	PFAM
transmembrane domain	382	404	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176975

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	C	15: 60,791,737 (GRCm39)	M233R	probably benign	Het
Aadat	T	C	8: 60,984,725 (GRCm39)	M256T	probably damaging	Het
Adamts16	T	C	13: 70,901,410 (GRCm39)	N889S	probably benign	Het
Camkk2	A	T	5: 122,881,937 (GRCm39)	I235N	probably damaging	Het
Card6	C	T	15: 5,129,723 (GRCm39)	A558T	probably benign	Het
Ccdc175	T	G	12: 72,186,667 (GRCm39)		probably null	Het
Crot	A	G	5: 9,038,295 (GRCm39)		probably benign	Het
Cyp2c67	A	G	19: 39,628,405 (GRCm39)	S180P	probably damaging	Het
Ddx55	A	G	5: 124,692,816 (GRCm39)	N81S	possibly damaging	Het
Dennd3	C	T	15: 73,440,482 (GRCm39)	T1171M	probably benign	Het
Dnah7a	T	C	1: 53,543,093 (GRCm39)	D2359G	probably benign	Het
Dpp8	T	A	9: 64,953,069 (GRCm39)	N248K	probably benign	Het
Ganc	T	C	2: 120,265,769 (GRCm39)	I439T	probably benign	Het
Gdpgp1	T	C	7: 79,888,443 (GRCm39)	I158T	possibly damaging	Het
Grm3	T	C	5: 9,562,206 (GRCm39)	D548G	possibly damaging	Het
H2-DMb1	T	A	17: 34,376,514 (GRCm39)		probably benign	Het
Hecw2	A	G	1: 53,966,217 (GRCm39)		probably benign	Het
Hs3st2	A	G	7: 120,992,389 (GRCm39)	E113G	probably damaging	Het
Hspa4	C	A	11: 53,160,627 (GRCm39)	R483L	probably damaging	Het
Ik	C	A	18: 36,889,657 (GRCm39)	S490R	probably damaging	Het
Ldlrad1	G	A	4: 107,072,035 (GRCm39)	V86M	possibly damaging	Het
Ndufa9	A	G	6: 126,821,813 (GRCm39)	V54A	possibly damaging	Het
Nfe2l2	A	G	2: 75,509,544 (GRCm39)	I92T	probably benign	Het
Oas1a	A	G	5: 121,043,908 (GRCm39)	S75P	probably damaging	Het
Oca2	T	G	7: 56,185,716 (GRCm39)	M814R	probably benign	Het
Phlpp2	A	G	8: 110,662,249 (GRCm39)	T879A	probably benign	Het
Potefam3e	A	G	8: 19,799,463 (GRCm39)	I304V	probably benign	Het
Rpe65	A	T	3: 159,321,214 (GRCm39)	Y342F	possibly damaging	Het
Satb2	T	C	1: 56,930,333 (GRCm39)	K230R	probably damaging	Het
Slc4a4	A	G	5: 89,270,342 (GRCm39)	T297A	probably benign	Het
Slpi	T	C	2: 164,198,129 (GRCm39)	T22A	probably benign	Het
Sphkap	A	T	1: 83,254,552 (GRCm39)	S779T	probably damaging	Het
Synj1	A	G	16: 90,784,280 (GRCm39)	F286S	probably damaging	Het
Tektl1	A	G	10: 78,582,966 (GRCm39)	C473R	possibly damaging	Het
Tigd2	T	A	6: 59,188,690 (GRCm39)	I519K	probably benign	Het
Tyr	G	T	7: 87,141,922 (GRCm39)	L136I	possibly damaging	Het
Vmn1r34	A	T	6: 66,613,970 (GRCm39)	M256K	probably benign	Het
Zmym2	T	A	14: 57,194,517 (GRCm39)	C1258*	probably null	Het

Other mutations in Mfsd4b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01650:Mfsd4b1	APN	10	39,879,115 (GRCm39)	missense	probably benign	0.16
R1467:Mfsd4b1	UTSW	10	39,878,631 (GRCm39)	missense	possibly damaging	0.93
R1467:Mfsd4b1	UTSW	10	39,878,631 (GRCm39)	missense	possibly damaging	0.93
R1770:Mfsd4b1	UTSW	10	39,879,223 (GRCm39)	missense	probably damaging	0.99
R1930:Mfsd4b1	UTSW	10	39,882,070 (GRCm39)	missense	probably benign	0.01
R2122:Mfsd4b1	UTSW	10	39,878,647 (GRCm39)	missense	possibly damaging	0.91
R2290:Mfsd4b1	UTSW	10	39,879,327 (GRCm39)	missense	probably damaging	0.99
R3508:Mfsd4b1	UTSW	10	39,878,715 (GRCm39)	missense	probably benign	0.15
R4469:Mfsd4b1	UTSW	10	39,888,091 (GRCm39)	intron	probably benign
R4594:Mfsd4b1	UTSW	10	39,883,313 (GRCm39)	missense	probably benign	0.00
R5300:Mfsd4b1	UTSW	10	39,879,027 (GRCm39)	missense	probably benign
R6250:Mfsd4b1	UTSW	10	39,879,106 (GRCm39)	missense	possibly damaging	0.92
R6426:Mfsd4b1	UTSW	10	39,882,073 (GRCm39)	missense	possibly damaging	0.95
R7061:Mfsd4b1	UTSW	10	39,879,382 (GRCm39)	missense	possibly damaging	0.83
R7595:Mfsd4b1	UTSW	10	39,879,221 (GRCm39)	nonsense	probably null
R7734:Mfsd4b1	UTSW	10	39,883,374 (GRCm39)	missense	probably damaging	0.98
R7737:Mfsd4b1	UTSW	10	39,879,274 (GRCm39)	missense	probably damaging	0.97
R7852:Mfsd4b1	UTSW	10	39,879,411 (GRCm39)	missense	probably benign	0.23
R7893:Mfsd4b1	UTSW	10	39,883,313 (GRCm39)	missense	probably benign	0.00
R9278:Mfsd4b1	UTSW	10	39,883,330 (GRCm39)	missense	probably damaging	0.99
R9441:Mfsd4b1	UTSW	10	39,878,680 (GRCm39)	missense	possibly damaging	0.91
R9786:Mfsd4b1	UTSW	10	39,878,865 (GRCm39)	missense	probably damaging	0.98
X0063:Mfsd4b1	UTSW	10	39,883,303 (GRCm39)	missense	probably benign

Posted On

2016-08-02