Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02990:Slc49a4'

406896

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc49a4

Ensembl Gene

ENSMUSG00000022848

Gene Name

solute carrier family 49 member 4

Synonyms

Dirc2, RCC4

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

IGL02990

Quality Score

Status

Chromosome

Chromosomal Location

35514432-35589726 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35555861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 200 (V200F)

Ref Sequence

ENSEMBL: ENSMUSP00000023554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023554] [ENSMUST00000149892]

AlphaFold

Q8BFQ6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023554
AA Change: V200F

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000023554
Gene: ENSMUSG00000022848
AA Change: V200F

Domain	Start	End	E-Value	Type
low complexity region	8	33	N/A	INTRINSIC
transmembrane domain	53	75	N/A	INTRINSIC
transmembrane domain	90	111	N/A	INTRINSIC
transmembrane domain	116	138	N/A	INTRINSIC
transmembrane domain	148	170	N/A	INTRINSIC
transmembrane domain	183	205	N/A	INTRINSIC
transmembrane domain	231	250	N/A	INTRINSIC
low complexity region	251	258	N/A	INTRINSIC
transmembrane domain	280	302	N/A	INTRINSIC
transmembrane domain	317	339	N/A	INTRINSIC
transmembrane domain	344	366	N/A	INTRINSIC
transmembrane domain	381	403	N/A	INTRINSIC
transmembrane domain	415	437	N/A	INTRINSIC
transmembrane domain	441	463	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149892

SMART Domains

Protein: ENSMUSP00000120775
Gene: ENSMUSG00000022848

Domain	Start	End	E-Value	Type
low complexity region	8	33	N/A	INTRINSIC
transmembrane domain	53	75	N/A	INTRINSIC
transmembrane domain	90	111	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas. Alternatively spliced transcript variants have been described, but their biological validity has not yet been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12b	G	T	11: 69,054,032 (GRCm39)	V205F	probably benign	Het
Ampd3	T	C	7: 110,407,170 (GRCm39)		probably benign	Het
Arhgef18	G	A	8: 3,494,904 (GRCm39)	V388I	probably benign	Het
Atp6v1c2	C	T	12: 17,344,741 (GRCm39)	V169I	probably damaging	Het
Ccdc88b	G	T	19: 6,824,777 (GRCm39)	L1328I	probably damaging	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Cluh	G	A	11: 74,558,591 (GRCm39)		probably null	Het
Cpsf7	C	A	19: 10,509,159 (GRCm39)	N23K	probably benign	Het
Cyp4x1	A	T	4: 114,978,946 (GRCm39)	F191L	probably benign	Het
Dcn	A	G	10: 97,345,835 (GRCm39)	T216A	probably benign	Het
Drosha	C	T	15: 12,827,353 (GRCm39)		probably benign	Het
Foxn4	A	G	5: 114,411,050 (GRCm39)	S24P	probably damaging	Het
Gm11733	A	T	11: 117,377,809 (GRCm39)		probably null	Het
Hapln1	A	C	13: 89,749,725 (GRCm39)	Y90S	probably benign	Het
Igf2r	C	A	17: 12,929,633 (GRCm39)		probably benign	Het
Jade2	A	G	11: 51,722,074 (GRCm39)		probably benign	Het
Kcnh7	A	T	2: 62,536,330 (GRCm39)	L1084H	probably benign	Het
Kif1a	T	C	1: 92,966,985 (GRCm39)	D1155G	probably damaging	Het
Llgl2	A	G	11: 115,745,159 (GRCm39)	M958V	probably benign	Het
Lrp2	A	G	2: 69,271,740 (GRCm39)	V4064A	possibly damaging	Het
Mau2	A	G	8: 70,474,905 (GRCm39)		probably benign	Het
Mllt10	T	C	2: 18,128,522 (GRCm39)		probably benign	Het
Myo15a	A	G	11: 60,370,266 (GRCm39)	T1009A	probably benign	Het
Myo6	T	C	9: 80,183,685 (GRCm39)		probably null	Het
Neil2	G	T	14: 63,429,258 (GRCm39)	H12N	possibly damaging	Het
Nrde2	T	C	12: 100,108,355 (GRCm39)	E412G	probably damaging	Het
Or14j3	C	T	17: 37,900,559 (GRCm39)	M228I	probably benign	Het
Or4c115	T	C	2: 88,927,473 (GRCm39)	Y266C	possibly damaging	Het
Patl2	T	G	2: 121,954,978 (GRCm39)		probably null	Het
Pkhd1	T	C	1: 20,593,187 (GRCm39)	H1642R	possibly damaging	Het
Ppp6r1	A	G	7: 4,646,022 (GRCm39)	I199T	possibly damaging	Het
Prom2	T	A	2: 127,370,734 (GRCm39)	T817S	probably benign	Het
Slc9b1	A	G	3: 135,100,744 (GRCm39)		probably null	Het
Sv2c	A	T	13: 96,224,886 (GRCm39)	I141K	probably damaging	Het
Tas2r139	A	T	6: 42,118,038 (GRCm39)	I57F	probably damaging	Het
Tep1	A	G	14: 51,105,703 (GRCm39)	S106P	possibly damaging	Het
Tnni3k	T	C	3: 154,663,395 (GRCm39)	D319G	probably benign	Het
Tom1l2	C	T	11: 60,121,062 (GRCm39)	D461N	probably damaging	Het
Ugt1a10	T	C	1: 87,983,601 (GRCm39)	L133S	probably damaging	Het
Usf2	T	G	7: 30,654,732 (GRCm39)	Q161P	probably benign	Het
Vmn1r15	A	G	6: 57,235,593 (GRCm39)	T154A	probably benign	Het
Vmn2r95	C	A	17: 18,672,298 (GRCm39)	Y678*	probably null	Het

Other mutations in Slc49a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02505:Slc49a4	APN	16	35,555,928 (GRCm39)	missense	probably benign	0.01
R0166:Slc49a4	UTSW	16	35,539,684 (GRCm39)	missense	possibly damaging	0.49
R0319:Slc49a4	UTSW	16	35,570,884 (GRCm39)	missense	probably benign	0.01
R0323:Slc49a4	UTSW	16	35,539,730 (GRCm39)	frame shift	probably null
R0497:Slc49a4	UTSW	16	35,555,974 (GRCm39)	missense	probably benign	0.40
R1240:Slc49a4	UTSW	16	35,518,379 (GRCm39)	missense	probably benign	0.00
R1460:Slc49a4	UTSW	16	35,539,736 (GRCm39)	missense	probably benign	0.25
R2115:Slc49a4	UTSW	16	35,518,309 (GRCm39)	missense	probably benign	0.17
R4502:Slc49a4	UTSW	16	35,539,787 (GRCm39)	missense	probably benign	0.00
R4503:Slc49a4	UTSW	16	35,539,787 (GRCm39)	missense	probably benign	0.00
R4563:Slc49a4	UTSW	16	35,518,312 (GRCm39)	missense	probably damaging	1.00
R4834:Slc49a4	UTSW	16	35,555,945 (GRCm39)	missense	probably benign	0.08
R5278:Slc49a4	UTSW	16	35,518,358 (GRCm39)	missense	probably damaging	1.00
R5651:Slc49a4	UTSW	16	35,555,986 (GRCm39)	missense	probably benign	0.25
R5717:Slc49a4	UTSW	16	35,539,799 (GRCm39)	missense	probably benign	0.00
R5947:Slc49a4	UTSW	16	35,550,676 (GRCm39)	missense	probably benign	0.14
R6176:Slc49a4	UTSW	16	35,525,167 (GRCm39)	missense	probably benign
R7155:Slc49a4	UTSW	16	35,555,947 (GRCm39)	missense	probably benign	0.02
R7450:Slc49a4	UTSW	16	35,589,344 (GRCm39)	missense	possibly damaging	0.76
R7645:Slc49a4	UTSW	16	35,554,438 (GRCm39)	critical splice acceptor site	probably null
R7905:Slc49a4	UTSW	16	35,589,320 (GRCm39)	missense	probably benign	0.33
R8425:Slc49a4	UTSW	16	35,555,967 (GRCm39)	missense	probably benign	0.01
R8670:Slc49a4	UTSW	16	35,556,005 (GRCm39)	missense	possibly damaging	0.76
R8827:Slc49a4	UTSW	16	35,554,320 (GRCm39)	missense	probably benign	0.01
R9022:Slc49a4	UTSW	16	35,570,912 (GRCm39)	missense	probably benign	0.00
R9421:Slc49a4	UTSW	16	35,518,372 (GRCm39)	missense
R9779:Slc49a4	UTSW	16	35,543,186 (GRCm39)	missense	probably benign	0.30

Posted On

2016-08-02