Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01411:Mfsd4b5'

80001

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mfsd4b5

Ensembl Gene

ENSMUSG00000038528

Gene Name

major facilitator superfamily domain containing 4B5

Synonyms

BC021785

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL01411

Quality Score

Status

Chromosome

Chromosomal Location

39834057-39862642 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 39846723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 286 (V286M)

Ref Sequence

ENSEMBL: ENSMUSP00000126439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045524] [ENSMUST00000073618] [ENSMUST00000164566] [ENSMUST00000170505] [ENSMUST00000170579]

AlphaFold

E9PYY6

Predicted Effect

probably benign
Transcript: ENSMUST00000045524

SMART Domains

Protein: ENSMUSP00000040341
Gene: ENSMUSG00000038528

Domain	Start	End	E-Value	Type
transmembrane domain	45	64	N/A	INTRINSIC
transmembrane domain	71	89	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000073618

SMART Domains

Protein: ENSMUSP00000073304
Gene: ENSMUSG00000038528

Domain	Start	End	E-Value	Type
transmembrane domain	39	61	N/A	INTRINSIC
transmembrane domain	76	95	N/A	INTRINSIC
transmembrane domain	102	120	N/A	INTRINSIC
transmembrane domain	124	141	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164566

SMART Domains

Protein: ENSMUSP00000130944
Gene: ENSMUSG00000038528

Domain	Start	End	E-Value	Type
transmembrane domain	33	55	N/A	INTRINSIC
transmembrane domain	76	95	N/A	INTRINSIC
transmembrane domain	99	121	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170505

Predicted Effect

probably damaging
Transcript: ENSMUST00000170579
AA Change: V286M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126439
Gene: ENSMUSG00000038528
AA Change: V286M

Domain	Start	End	E-Value	Type
Pfam:MFS_1	39	395	7.2e-15	PFAM
Pfam:TrkH	170	325	1.4e-9	PFAM
transmembrane domain	423	445	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	G	A	19: 31,888,629 (GRCm39)	E36K	possibly damaging	Het
Alox8	A	T	11: 69,079,516 (GRCm39)	S257R	probably benign	Het
Apc2	T	C	10: 80,150,912 (GRCm39)	S1960P	probably damaging	Het
Arhgap35	T	C	7: 16,298,192 (GRCm39)	N291S	probably benign	Het
AW551984	A	T	9: 39,505,087 (GRCm39)	D468E	possibly damaging	Het
B3gnt6	A	C	7: 97,843,730 (GRCm39)	F77V	probably damaging	Het
C1qtnf7	A	T	5: 43,766,403 (GRCm39)	M1L	probably benign	Het
Calm3	T	C	7: 16,651,409 (GRCm39)	T63A	probably benign	Het
Ccdc33	G	A	9: 58,024,919 (GRCm39)		probably benign	Het
Cdh4	C	T	2: 179,422,196 (GRCm39)	R107C	probably damaging	Het
Cdr2l	A	G	11: 115,273,192 (GRCm39)	E15G	probably damaging	Het
Chil6	A	G	3: 106,296,141 (GRCm39)	W365R	probably damaging	Het
Ckap5	G	T	2: 91,431,356 (GRCm39)	R1525L	probably benign	Het
Col6a6	T	A	9: 105,663,157 (GRCm39)	K127*	probably null	Het
Dclre1b	A	G	3: 103,710,639 (GRCm39)	V298A	probably damaging	Het
Fat1	T	A	8: 45,479,837 (GRCm39)	V2961E	probably damaging	Het
Fhit	T	C	14: 9,573,483 (GRCm38)	D126G	probably benign	Het
Gpc1	T	C	1: 92,784,736 (GRCm39)	F303S	probably damaging	Het
Hsd17b4	T	A	18: 50,324,881 (GRCm39)	V698D	probably damaging	Het
Itpr2	C	T	6: 146,277,560 (GRCm39)		probably null	Het
Klhl4	A	T	X: 113,432,091 (GRCm39)	D168V	probably damaging	Het
Krt42	A	G	11: 100,154,167 (GRCm39)	L405P	possibly damaging	Het
Lrp1	A	T	10: 127,417,634 (GRCm39)	C85*	probably null	Het
Lrp2	A	G	2: 69,312,611 (GRCm39)	L2559P	probably damaging	Het
Maob	T	G	X: 16,578,808 (GRCm39)	R448S	possibly damaging	Het
Mast3	A	G	8: 71,232,227 (GRCm39)	V1250A	possibly damaging	Het
Mlip	A	G	9: 77,146,699 (GRCm39)	I198T	possibly damaging	Het
Mocs3	T	C	2: 168,073,297 (GRCm39)	V248A	probably damaging	Het
Nxf2	T	A	X: 133,852,861 (GRCm39)	R367S	probably benign	Het
Or10j3b	T	G	1: 173,043,695 (GRCm39)	V159G	probably benign	Het
Or52z12	T	C	7: 103,233,324 (GRCm39)	W32R	probably damaging	Het
Parva	T	C	7: 112,176,217 (GRCm39)		probably benign	Het
Pot1a	A	T	6: 25,750,143 (GRCm39)		probably benign	Het
Ptpra	T	C	2: 130,386,359 (GRCm39)	I603T	probably damaging	Het
Rad9a	T	C	19: 4,251,336 (GRCm39)	K33E	probably benign	Het
Rimbp3	A	G	16: 17,028,958 (GRCm39)	D794G	probably damaging	Het
Septin5	G	A	16: 18,443,680 (GRCm39)	R90C	probably damaging	Het
Skint8	T	A	4: 111,794,103 (GRCm39)	N164K	probably damaging	Het
Slc30a3	T	G	5: 31,247,424 (GRCm39)	I73L	probably benign	Het
Stab2	A	T	10: 86,815,872 (GRCm39)		probably benign	Het
Tnc	C	T	4: 63,918,959 (GRCm39)	V1155M	probably damaging	Het
Ttc13	T	G	8: 125,410,024 (GRCm39)	Q525P	probably damaging	Het
Ttn	T	C	2: 76,550,479 (GRCm39)	E31601G	probably damaging	Het
Unc5a	A	T	13: 55,150,741 (GRCm39)	D577V	probably damaging	Het
Usp18	G	A	6: 121,238,380 (GRCm39)	V176M	probably benign	Het
Vmn1r184	T	C	7: 25,966,320 (GRCm39)	V22A	probably benign	Het
Vmn1r33	T	A	6: 66,588,865 (GRCm39)	I230F	probably damaging	Het
Vmn1r51	A	G	6: 90,106,386 (GRCm39)	I101V	probably benign	Het
Vmn2r108	T	A	17: 20,691,282 (GRCm39)	M414L	probably benign	Het
Vmn2r87	A	C	10: 130,308,429 (GRCm39)	V603G	probably benign	Het
Wt1	A	G	2: 104,963,319 (GRCm39)	Y16C	probably damaging	Het
Wwp2	C	T	8: 108,232,977 (GRCm39)	T159I	probably benign	Het
Xirp2	T	C	2: 67,344,427 (GRCm39)	F2223L	probably benign	Het
Zan	T	A	5: 137,387,155 (GRCm39)	H4966L	unknown	Het

Other mutations in Mfsd4b5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1138:Mfsd4b5	UTSW	10	39,851,150 (GRCm39)	missense	probably damaging	1.00
R1166:Mfsd4b5	UTSW	10	39,846,419 (GRCm39)	missense	probably damaging	1.00
R1668:Mfsd4b5	UTSW	10	39,849,687 (GRCm39)	missense	probably damaging	0.98
R1718:Mfsd4b5	UTSW	10	39,851,199 (GRCm39)	missense	probably benign	0.09
R3977:Mfsd4b5	UTSW	10	39,850,704 (GRCm39)	intron	probably benign
R5015:Mfsd4b5	UTSW	10	39,850,758 (GRCm39)	missense	probably benign	0.03
R5080:Mfsd4b5	UTSW	10	39,846,570 (GRCm39)	missense	probably damaging	1.00
R5191:Mfsd4b5	UTSW	10	39,846,668 (GRCm39)	missense	probably damaging	1.00
R6554:Mfsd4b5	UTSW	10	39,862,428 (GRCm39)	missense	probably benign	0.19
R6706:Mfsd4b5	UTSW	10	39,862,413 (GRCm39)	missense	probably benign	0.17
R7667:Mfsd4b5	UTSW	10	39,850,796 (GRCm39)	missense	probably benign	0.01
R7750:Mfsd4b5	UTSW	10	39,846,251 (GRCm39)	missense	probably damaging	1.00
R8223:Mfsd4b5	UTSW	10	39,846,246 (GRCm39)	missense	probably damaging	1.00
R8854:Mfsd4b5	UTSW	10	39,846,735 (GRCm39)	missense	probably damaging	1.00
R9240:Mfsd4b5	UTSW	10	39,851,099 (GRCm39)	missense	probably damaging	1.00
Z1176:Mfsd4b5	UTSW	10	39,862,386 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-05