Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02293:Mfsd1'

290112

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mfsd1

Ensembl Gene

ENSMUSG00000027775

Gene Name

major facilitator superfamily domain containing 1

Synonyms

1200003O06Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02293

Quality Score

Status

Chromosome

Chromosomal Location

67582741-67604237 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67598092 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 380 (V380D)

Ref Sequence

ENSEMBL: ENSMUSP00000029344 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029344]

Predicted Effect

probably damaging
Transcript: ENSMUST00000029344
AA Change: V380D

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

SMART Domains

Protein: ENSMUSP00000029344
Gene: ENSMUSG00000027775
AA Change: V380D

Domain	Start	End	E-Value	Type
Pfam:MFS_1	45	404	2.3e-31	PFAM
Pfam:MFS_2	175	443	2.9e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192776

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,271,910	L866H	probably damaging	Het
Agtr1a	A	G	13: 30,381,357	K135R	probably benign	Het
Ahdc1	C	T	4: 133,065,618	A1390V	possibly damaging	Het
Aldh1a2	A	G	9: 71,285,277		probably null	Het
C6	T	A	15: 4,755,303	I217K	probably benign	Het
Ccr1l1	G	A	9: 123,977,936	T158I	possibly damaging	Het
Dnah6	A	T	6: 73,133,650		probably benign	Het
Ect2l	A	G	10: 18,140,511		probably null	Het
Endov	T	C	11: 119,505,173		probably benign	Het
Fpr-rs7	A	G	17: 20,113,970	V86A	probably benign	Het
Gle1	A	G	2: 29,957,760	I660V	probably benign	Het
Gm2056	A	G	12: 88,027,263	N87S	probably benign	Het
Hk2	A	T	6: 82,743,975	D159E	probably benign	Het
Hmcn1	A	G	1: 150,664,915	V2881A	probably damaging	Het
Hspa14	T	C	2: 3,511,034	K68E	probably damaging	Het
Ifi207	A	T	1: 173,723,748	I974N	probably damaging	Het
Igkv4-71	A	C	6: 69,243,322	S42A	possibly damaging	Het
Itgb4	G	A	11: 115,988,926	V635I	probably damaging	Het
Klhl32	A	G	4: 24,626,935	Y555H	probably damaging	Het
Lmbrd2	T	C	15: 9,172,189	S357P	probably benign	Het
Ndc80	A	G	17: 71,514,278	F225S	probably damaging	Het
Olfr134	G	T	17: 38,175,686	V201L	probably benign	Het
Olfr320	T	C	11: 58,684,170	V99A	probably benign	Het
Plxnd1	A	G	6: 115,963,913	V1355A	probably damaging	Het
Prkd1	A	G	12: 50,489,978	S108P	probably damaging	Het
Ptges3	C	T	10: 128,075,335		probably benign	Het
Rabggta	G	T	14: 55,721,696	L5M	probably benign	Het
Rag1	C	T	2: 101,643,046	D584N	probably benign	Het
Rasl12	A	G	9: 65,408,311	D79G	probably benign	Het
Rhoj	A	G	12: 75,375,412		probably benign	Het
Slc4a9	T	C	18: 36,533,215	L483P	probably benign	Het

Other mutations in Mfsd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01781:Mfsd1	APN	3	67587911	splice site	probably benign
IGL02186:Mfsd1	APN	3	67596595	missense	probably benign	0.00
IGL02209:Mfsd1	APN	3	67598132	splice site	probably benign
IGL03132:Mfsd1	APN	3	67587940	missense	possibly damaging	0.53
edelweiss	UTSW	3	67596603	nonsense	probably null
Schneeweiss	UTSW	3	67585662	missense	possibly damaging	0.79
white	UTSW	3	67589829	critical splice acceptor site	probably null
R0948:Mfsd1	UTSW	3	67596734	missense	possibly damaging	0.61
R2355:Mfsd1	UTSW	3	67601335	missense	probably damaging	1.00
R3407:Mfsd1	UTSW	3	67596713	missense	possibly damaging	0.70
R3408:Mfsd1	UTSW	3	67596713	missense	possibly damaging	0.70
R3729:Mfsd1	UTSW	3	67582965	missense	probably benign	0.03
R3749:Mfsd1	UTSW	3	67582953	missense	probably benign	0.09
R4405:Mfsd1	UTSW	3	67600610	missense	probably benign	0.07
R4867:Mfsd1	UTSW	3	67587987	critical splice donor site	probably null
R5429:Mfsd1	UTSW	3	67599960	missense	probably damaging	1.00
R5456:Mfsd1	UTSW	3	67589833	missense	probably benign	0.28
R5892:Mfsd1	UTSW	3	67589829	critical splice acceptor site	probably null
R6091:Mfsd1	UTSW	3	67599937	splice site	probably null
R6120:Mfsd1	UTSW	3	67594385	nonsense	probably null
R6671:Mfsd1	UTSW	3	67585662	missense	possibly damaging	0.79
R6752:Mfsd1	UTSW	3	67596603	nonsense	probably null
R6799:Mfsd1	UTSW	3	67599981	missense	probably damaging	0.97
R7117:Mfsd1	UTSW	3	67600058	splice site	probably null

Posted On

2015-04-16