Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00697:Mfsd14b'

11264

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mfsd14b

Ensembl Gene

ENSMUSG00000038212

Gene Name

major facilitator superfamily domain containing 14B

Synonyms

5730414C17Rik, Hiatl1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

IGL00697

Quality Score

Status

Chromosome

Chromosomal Location

65064663-65112975 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 65066701 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 479 (S479N)

Ref Sequence

ENSEMBL: ENSMUSP00000118180 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054730] [ENSMUST00000155487]

Predicted Effect

probably benign
Transcript: ENSMUST00000054730
AA Change: S479N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000062566
Gene: ENSMUSG00000038212
AA Change: S479N

Domain	Start	End	E-Value	Type
Pfam:MFS_1	50	396	4.5e-33	PFAM
transmembrane domain	428	450	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148779

Predicted Effect

probably benign
Transcript: ENSMUST00000155487
AA Change: S479N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000118180
Gene: ENSMUSG00000038212
AA Change: S479N

Domain	Start	End	E-Value	Type
Pfam:MFS_1	50	396	4.6e-33	PFAM
transmembrane domain	428	450	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aknad1	T	A	3: 108,775,008	D495E	probably damaging	Het
Brpf1	T	A	6: 113,314,986	L331Q	probably damaging	Het
Coq10b	T	A	1: 55,061,265		probably null	Het
D430042O09Rik	G	A	7: 125,795,450	V233M	possibly damaging	Het
Diaph2	C	T	X: 130,460,940		probably benign	Het
Dsg3	T	C	18: 20,524,689		probably null	Het
Iars	T	A	13: 49,709,728	F552Y	probably damaging	Het
Nsmaf	A	G	4: 6,417,163		probably null	Het
Pdzd2	T	C	15: 12,373,647	Y2134C	possibly damaging	Het
Srpk2	C	T	5: 23,540,379	R95Q	probably benign	Het
Svs3a	A	T	2: 164,289,812	E100V	probably damaging	Het
Tspyl2	T	C	X: 152,339,714	D379G	probably damaging	Het

Other mutations in Mfsd14b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01935:Mfsd14b	APN	13	65067925	missense	probably benign
IGL01957:Mfsd14b	APN	13	65087093	missense	possibly damaging	0.90
R0555:Mfsd14b	UTSW	13	65078445	missense	probably benign	0.34
R0601:Mfsd14b	UTSW	13	65087150	missense	possibly damaging	0.88
R0988:Mfsd14b	UTSW	13	65112493	splice site	probably benign
R1136:Mfsd14b	UTSW	13	65095692	missense	probably benign	0.22
R1494:Mfsd14b	UTSW	13	65095671	missense	probably damaging	1.00
R2087:Mfsd14b	UTSW	13	65067982	missense	probably damaging	1.00
R4223:Mfsd14b	UTSW	13	65066608	utr 3 prime	probably benign
R5103:Mfsd14b	UTSW	13	65087093	missense	possibly damaging	0.56
R5568:Mfsd14b	UTSW	13	65072122	splice site	probably null
R5603:Mfsd14b	UTSW	13	65073606	missense	probably benign	0.00
R6181:Mfsd14b	UTSW	13	65112584	missense	probably benign	0.00
R6330:Mfsd14b	UTSW	13	65095686	missense	probably damaging	1.00
R6649:Mfsd14b	UTSW	13	65066785	missense	probably damaging	1.00
R7460:Mfsd14b	UTSW	13	65072023	missense	probably damaging	1.00
R7605:Mfsd14b	UTSW	13	65066777	missense	probably benign
X0017:Mfsd14b	UTSW	13	65072053	missense	probably benign	0.08
X0027:Mfsd14b	UTSW	13	65072011	missense	probably benign	0.16
X0063:Mfsd14b	UTSW	13	65078485	splice site	probably null

Posted On

2012-12-06