Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02990:Dirc2'

406896

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dirc2

Ensembl Gene

ENSMUSG00000022848

Gene Name

disrupted in renal carcinoma 2 (human)

Synonyms

RCC4

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.901) question?

Stock #

IGL02990

Quality Score

Status

Chromosome

Chromosomal Location

35694062-35769356 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35735491 bp (GRCm38)

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: 69,163,206	V205F	probably benign	Het
Ampd3	T	C	7: 110,807,963		probably benign	Het
Arhgef18	G	A	8: 3,444,904	V388I	probably benign	Het
Atp6v1c2	C	T	12: 17,294,740	V169I	probably damaging	Het
Ccdc88b	G	T	19: 6,847,409	L1328I	probably damaging	Het
Ces1d	C	A	8: 93,169,718		probably null	Het
Cluh	G	A	11: 74,667,765		probably null	Het
Cpsf7	C	A	19: 10,531,795	N23K	probably benign	Het
Cyp4x1	A	T	4: 115,121,749	F191L	probably benign	Het
Dcn	A	G	10: 97,509,973	T216A	probably benign	Het
Drosha	C	T	15: 12,827,267		probably benign	Het
Foxn4	A	G	5: 114,272,989	S24P	probably damaging	Het
Gm11733	A	T	11: 117,486,983		probably null	Het
Hapln1	A	C	13: 89,601,606	Y90S	probably benign	Het
Igf2r	C	A	17: 12,710,746		probably benign	Het
Jade2	A	G	11: 51,831,247		probably benign	Het
Kcnh7	A	T	2: 62,705,986	L1084H	probably benign	Het
Kif1a	T	C	1: 93,039,263	D1155G	probably damaging	Het
Llgl2	A	G	11: 115,854,333	M958V	probably benign	Het
Lrp2	A	G	2: 69,441,396	V4064A	possibly damaging	Het
Mau2	A	G	8: 70,022,255		probably benign	Het
Mllt10	T	C	2: 18,123,711		probably benign	Het
Myo15	A	G	11: 60,479,440	T1009A	probably benign	Het
Myo6	T	C	9: 80,276,403		probably null	Het
Neil2	G	T	14: 63,191,809	H12N	possibly damaging	Het
Nrde2	T	C	12: 100,142,096	E412G	probably damaging	Het
Olfr114	C	T	17: 37,589,668	M228I	probably benign	Het
Olfr1220	T	C	2: 89,097,129	Y266C	possibly damaging	Het
Patl2	T	G	2: 122,124,497		probably null	Het
Pkhd1	T	C	1: 20,522,963	H1642R	possibly damaging	Het
Ppp6r1	A	G	7: 4,643,023	I199T	possibly damaging	Het
Prom2	T	A	2: 127,528,814	T817S	probably benign	Het
Slc9b1	A	G	3: 135,394,983		probably null	Het
Sv2c	A	T	13: 96,088,378	I141K	probably damaging	Het
Tas2r139	A	T	6: 42,141,104	I57F	probably damaging	Het
Tep1	A	G	14: 50,868,246	S106P	possibly damaging	Het
Tnni3k	T	C	3: 154,957,758	D319G	probably benign	Het
Tom1l2	C	T	11: 60,230,236	D461N	probably damaging	Het
Ugt1a10	T	C	1: 88,055,879	L133S	probably damaging	Het
Usf2	T	G	7: 30,955,307	Q161P	probably benign	Het
Vmn1r15	A	G	6: 57,258,608	T154A	probably benign	Het
Vmn2r95	C	A	17: 18,452,036	Y678*	probably null	Het

Other mutations in Dirc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02505:Dirc2	APN	16	35735558	missense	probably benign	0.01
R0166:Dirc2	UTSW	16	35719314	missense	possibly damaging	0.49
R0319:Dirc2	UTSW	16	35750514	missense	probably benign	0.01
R0323:Dirc2	UTSW	16	35719360	frame shift	probably null
R0497:Dirc2	UTSW	16	35735604	missense	probably benign	0.40
R1240:Dirc2	UTSW	16	35698009	missense	probably benign	0.00
R1460:Dirc2	UTSW	16	35719366	missense	probably benign	0.25
R2115:Dirc2	UTSW	16	35697939	missense	probably benign	0.17
R4502:Dirc2	UTSW	16	35719417	missense	probably benign	0.00
R4503:Dirc2	UTSW	16	35719417	missense	probably benign	0.00
R4563:Dirc2	UTSW	16	35697942	missense	probably damaging	1.00
R4834:Dirc2	UTSW	16	35735575	missense	probably benign	0.08
R5278:Dirc2	UTSW	16	35697988	missense	probably damaging	1.00
R5651:Dirc2	UTSW	16	35735616	missense	probably benign	0.25
R5717:Dirc2	UTSW	16	35719429	missense	probably benign	0.00
R5947:Dirc2	UTSW	16	35730306	missense	probably benign	0.14
R6176:Dirc2	UTSW	16	35704797	missense	probably benign
R7155:Dirc2	UTSW	16	35735577	missense	probably benign	0.02
R7450:Dirc2	UTSW	16	35768974	missense	possibly damaging	0.76
R7645:Dirc2	UTSW	16	35734068	critical splice acceptor site	probably null
R7905:Dirc2	UTSW	16	35768950	missense	probably benign	0.33
R8425:Dirc2	UTSW	16	35735597	missense	probably benign	0.01
R8670:Dirc2	UTSW	16	35735635	missense	possibly damaging	0.76
R8827:Dirc2	UTSW	16	35733950	missense	probably benign	0.01
R9022:Dirc2	UTSW	16	35750542	missense	probably benign	0.00
R9421:Dirc2	UTSW	16	35698002	missense

Posted On

2016-08-02