Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03181:Dip2b'

412258

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dip2b

Ensembl Gene

ENSMUSG00000023026

Gene Name

disco interacting protein 2 homolog B

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.777) question?

Stock #

IGL03181

Quality Score

Status

Chromosome

Chromosomal Location

100038664-100219473 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100215207 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1501 (V1501A)

Ref Sequence

ENSEMBL: ENSMUSP00000097777 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023768] [ENSMUST00000100203] [ENSMUST00000108971]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023768
AA Change: V1267A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023768
Gene: ENSMUSG00000023026
AA Change: V1267A

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	109	584	9.5e-26	PFAM
Pfam:AMP-binding	760	1235	1.2e-52	PFAM
low complexity region	1299	1311	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000100203
AA Change: V1501A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097777
Gene: ENSMUSG00000023026
AA Change: V1501A

Domain	Start	End	E-Value	Type
DMAP_binding	12	130	1e-42	SMART
low complexity region	152	168	N/A	INTRINSIC
low complexity region	181	192	N/A	INTRINSIC
Pfam:AMP-binding	341	817	2e-26	PFAM
Pfam:AMP-binding	993	1468	1.8e-64	PFAM
low complexity region	1532	1544	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108971
AA Change: V1267A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104599
Gene: ENSMUSG00000023026
AA Change: V1267A

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	108	583	9.5e-26	PFAM
Pfam:AMP-binding	759	1234	1.2e-52	PFAM
low complexity region	1298	1310	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 member of the disco-interacting protein homolog 2 protein family. The encoded protein contains a binding site for the transcriptional regulator DNA methyltransferase 1 associated protein 1 as well as AMP-binding sites. The presence of these sites suggests that the encoded protein may participate in DNA methylation. This gene is located near a folate-sensitive fragile site, and CGG-repeat expansion in the promoter of this gene which affects transcription has been detected in individuals containing this fragile site on chromosome 12. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,193,373	V1319A	possibly damaging	Het
Abcb11	T	A	2: 69,328,008		probably benign	Het
Acss3	G	T	10: 107,053,388	H190Q	probably damaging	Het
Adra2b	C	T	2: 127,363,983	T140I	probably benign	Het
Arl1	T	A	10: 88,743,059		probably benign	Het
Atp4a	T	G	7: 30,724,704	C968G	probably benign	Het
BC003331	G	T	1: 150,363,539	P378T	probably benign	Het
Clec4n	T	C	6: 123,230,515	C13R	possibly damaging	Het
Cnot3	T	C	7: 3,653,248	Y178H	probably damaging	Het
Col18a1	G	A	10: 77,055,698	R1560C	probably damaging	Het
Cyp2c66	T	C	19: 39,142,039	F106S	probably benign	Het
Dcn	A	C	10: 97,483,452	E30D	probably damaging	Het
Dennd5a	A	T	7: 109,933,658	F302I	probably damaging	Het
Dnah10	C	T	5: 124,748,457	P687S	probably damaging	Het
Drc7	A	G	8: 95,068,127	T387A	probably benign	Het
Dusp7	T	A	9: 106,373,810	M378K	probably damaging	Het
Ftmt	T	C	18: 52,331,881	Y90H	probably damaging	Het
Glb1l3	T	C	9: 26,828,363		probably null	Het
Gm884	A	T	11: 103,616,416		probably benign	Het
Gpatch3	T	C	4: 133,578,122	F223L	probably damaging	Het
Gpr158	T	A	2: 21,783,161	F538I	probably benign	Het
Gucy2e	A	G	11: 69,230,182		probably benign	Het
Hadha	A	G	5: 30,121,526	V566A	probably benign	Het
Hectd4	A	T	5: 121,353,958	S3787C	possibly damaging	Het
Hnrnpk	A	T	13: 58,394,316	D265E	possibly damaging	Het
Hspbp1	G	A	7: 4,684,364	R83W	probably damaging	Het
Hspg2	T	A	4: 137,515,937	L758Q	probably damaging	Het
Ippk	A	G	13: 49,441,987	Y180C	probably damaging	Het
Itpr3	T	A	17: 27,111,268	M1620K	probably benign	Het
Klf7	T	C	1: 64,035,726	K298R	possibly damaging	Het
Ktn1	A	T	14: 47,733,284	T1229S	probably benign	Het
Lefty2	A	G	1: 180,897,550	N282D	probably damaging	Het
Nsd1	G	A	13: 55,247,045	E820K	probably damaging	Het
Obsl1	C	A	1: 75,492,584	A1238S	probably benign	Het
Pias2	T	C	18: 77,133,242	I391T	possibly damaging	Het
Ppp1r10	G	T	17: 35,930,624	G764*	probably null	Het
Ptpra	T	C	2: 130,517,787	F158L	probably damaging	Het
Recql	T	C	6: 142,378,192	S59G	probably benign	Het
Rrp1b	A	T	17: 32,057,176	I566F	probably benign	Het
Sh3yl1	G	A	12: 30,941,980	D145N	possibly damaging	Het
Slc35f5	T	A	1: 125,585,185	I52N	probably damaging	Het
Slc51b	A	G	9: 65,415,165		probably null	Het
Smpd4	C	T	16: 17,625,807	Q72*	probably null	Het
Spata6	A	G	4: 111,822,766	D391G	probably benign	Het
Tnc	T	A	4: 63,967,306	D1853V	possibly damaging	Het
Tnks1bp1	C	T	2: 85,062,714	T333I	probably benign	Het
Vmn2r100	T	A	17: 19,531,945	I813N	probably damaging	Het
Vwa8	T	A	14: 79,009,250	H677Q	probably benign	Het
Washc4	T	C	10: 83,591,019	Y1064H	probably damaging	Het
Wdr82	T	A	9: 106,186,415	I272K	probably benign	Het
Zc3h12a	T	C	4: 125,119,304	Y589C	probably damaging	Het

Other mutations in Dip2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Dip2b	APN	15	100174501	missense	probably damaging	1.00
IGL01716:Dip2b	APN	15	100209636	missense	probably benign	0.00
IGL01893:Dip2b	APN	15	100171220	splice site	probably benign
IGL01915:Dip2b	APN	15	100178511	missense	probably damaging	1.00
IGL02125:Dip2b	APN	15	100186250	missense	possibly damaging	0.60
IGL02200:Dip2b	APN	15	100151202	missense	possibly damaging	0.93
IGL02506:Dip2b	APN	15	100157281	missense	probably damaging	1.00
IGL02571:Dip2b	APN	15	100157885	missense	possibly damaging	0.93
IGL02706:Dip2b	APN	15	100215311	missense	probably damaging	0.98
IGL02983:Dip2b	APN	15	100132022	missense	possibly damaging	0.81
IGL03120:Dip2b	APN	15	100203127	splice site	probably benign
IGL03229:Dip2b	APN	15	100207838	splice site	probably benign
IGL03399:Dip2b	APN	15	100175327	missense	possibly damaging	0.63
PIT4131001:Dip2b	UTSW	15	100202352	missense	probably damaging	1.00
R0009:Dip2b	UTSW	15	100169312	missense	probably damaging	1.00
R0058:Dip2b	UTSW	15	100215240	missense	probably benign	0.03
R0058:Dip2b	UTSW	15	100215240	missense	probably benign	0.03
R0092:Dip2b	UTSW	15	100202265	missense	probably damaging	1.00
R0201:Dip2b	UTSW	15	100186147	missense	probably damaging	0.98
R0359:Dip2b	UTSW	15	100211993	missense	probably damaging	0.98
R0390:Dip2b	UTSW	15	100193913	missense	probably damaging	0.99
R0564:Dip2b	UTSW	15	100162719	nonsense	probably null
R0730:Dip2b	UTSW	15	100171651	missense	probably damaging	1.00
R1144:Dip2b	UTSW	15	100154250	missense	probably benign	0.11
R1200:Dip2b	UTSW	15	100209745	missense	probably benign	0.00
R1506:Dip2b	UTSW	15	100183113	missense	probably damaging	1.00
R1750:Dip2b	UTSW	15	100178466	missense	probably benign
R1760:Dip2b	UTSW	15	100212029	missense	probably damaging	1.00
R1773:Dip2b	UTSW	15	100193961	missense	probably benign	0.00
R1812:Dip2b	UTSW	15	100198938	splice site	probably null
R2264:Dip2b	UTSW	15	100203216	missense	probably benign	0.05
R3105:Dip2b	UTSW	15	100142137	nonsense	probably null
R4029:Dip2b	UTSW	15	100186172	missense	probably damaging	1.00
R4030:Dip2b	UTSW	15	100186172	missense	probably damaging	1.00
R4296:Dip2b	UTSW	15	100181336	missense	probably benign
R4392:Dip2b	UTSW	15	100162036	missense	probably damaging	1.00
R4480:Dip2b	UTSW	15	100186301	missense	probably damaging	0.99
R4564:Dip2b	UTSW	15	100157258	nonsense	probably null
R4605:Dip2b	UTSW	15	100209636	missense	probably benign	0.00
R4606:Dip2b	UTSW	15	100215329	missense	possibly damaging	0.91
R4634:Dip2b	UTSW	15	100160491	missense	probably damaging	1.00
R4667:Dip2b	UTSW	15	100151360	missense	probably benign	0.01
R4739:Dip2b	UTSW	15	100207777	missense	probably damaging	0.98
R4826:Dip2b	UTSW	15	100169281	missense	probably damaging	0.99
R4870:Dip2b	UTSW	15	100195784	splice site	probably null
R4877:Dip2b	UTSW	15	100160529	missense	possibly damaging	0.49
R4932:Dip2b	UTSW	15	100171722	missense	probably damaging	1.00
R5009:Dip2b	UTSW	15	100195784	splice site	probably null
R5169:Dip2b	UTSW	15	100205113	missense	probably damaging	1.00
R5216:Dip2b	UTSW	15	100211986	missense	probably damaging	1.00
R5218:Dip2b	UTSW	15	100154296	missense	probably benign	0.00
R5274:Dip2b	UTSW	15	100212104	missense	possibly damaging	0.54
R5370:Dip2b	UTSW	15	100211986	missense	probably damaging	1.00
R5420:Dip2b	UTSW	15	100205173	intron	probably benign
R5447:Dip2b	UTSW	15	100211986	missense	probably damaging	1.00
R5670:Dip2b	UTSW	15	100190104	missense	possibly damaging	0.80
R5768:Dip2b	UTSW	15	100157945	missense	probably benign	0.32
R5908:Dip2b	UTSW	15	100151184	missense	possibly damaging	0.93
R5957:Dip2b	UTSW	15	100209694	missense	probably benign	0.03
R5987:Dip2b	UTSW	15	100190079	missense	probably damaging	1.00
R6260:Dip2b	UTSW	15	100162702	missense	probably benign	0.05
R6325:Dip2b	UTSW	15	100154282	missense	probably benign	0.00
R6367:Dip2b	UTSW	15	100115914	missense	possibly damaging	0.50
R6391:Dip2b	UTSW	15	100151276	missense	probably damaging	1.00
R6422:Dip2b	UTSW	15	100199011	missense	probably damaging	0.98
R6818:Dip2b	UTSW	15	100193954	missense	probably benign	0.09
R6922:Dip2b	UTSW	15	100193843	missense	probably benign	0.25
R7002:Dip2b	UTSW	15	100160465	missense	probably benign	0.43
R7076:Dip2b	UTSW	15	100157972	splice site	probably null
R7176:Dip2b	UTSW	15	100169318	missense	probably damaging	1.00
R7255:Dip2b	UTSW	15	100209627	missense	probably benign	0.00
R7463:Dip2b	UTSW	15	100154157	missense	probably benign
R7513:Dip2b	UTSW	15	100207748	splice site	probably null
R7876:Dip2b	UTSW	15	100191041	missense	probably benign	0.02
R8368:Dip2b	UTSW	15	100154243	missense	probably benign	0.00
X0064:Dip2b	UTSW	15	100115850	missense	probably damaging	1.00

Posted On

2016-08-02