Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01893:Dip2b'

179321

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

Essential gene?

Possibly essential (E-score: 0.709) question?

Stock #

IGL01893

Quality Score

Status

Chromosome

Chromosomal Location

100038664-100219473 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 100171220 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104599 (fasta)

Gene Model

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

AlphaFold

Q3UH60

Predicted Effect

probably benign
Transcript: ENSMUST00000023768

SMART Domains

Protein: ENSMUSP00000023768
Gene: ENSMUSG00000023026

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 benign
Transcript: ENSMUST00000100203

SMART Domains

Protein: ENSMUSP00000097777
Gene: ENSMUSG00000023026

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

probably benign
Transcript: ENSMUST00000108971

SMART Domains

Protein: ENSMUSP00000104599
Gene: ENSMUSG00000023026

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230733

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	A	3: 116,788,549	I275F	probably damaging	Het
Avil	G	A	10: 127,020,546	E815K	possibly damaging	Het
C130026I21Rik	A	G	1: 85,254,186		probably benign	Het
Car9	T	A	4: 43,510,252	I278N	probably damaging	Het
Cast	T	A	13: 74,727,289	K480*	probably null	Het
Cenpj	A	G	14: 56,553,474	F373L	probably damaging	Het
Cspp1	T	C	1: 10,134,141		probably null	Het
Diaph3	G	A	14: 86,918,852	T675I	possibly damaging	Het
Dnah1	T	C	14: 31,266,470	D3425G	probably damaging	Het
Dolk	A	G	2: 30,285,914	Y40H	probably benign	Het
Drosha	T	C	15: 12,866,650		probably benign	Het
Dusp15	A	G	2: 152,949,036		probably null	Het
Edrf1	T	C	7: 133,657,102	F770L	probably benign	Het
Gabra1	T	C	11: 42,133,759	K363R	possibly damaging	Het
Glipr1l1	A	C	10: 112,076,169	T203P	probably benign	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
H2-Q10	T	C	17: 35,473,271	S270P	probably damaging	Het
Hipk2	A	T	6: 38,818,395	M313K	probably benign	Het
Htt	T	A	5: 34,876,830	I1920N	probably damaging	Het
Lsr	A	T	7: 30,962,232	V210E	possibly damaging	Het
Mbtd1	A	T	11: 93,921,412	I181L	probably null	Het
Mettl16	A	T	11: 74,805,271	T273S	possibly damaging	Het
Mlst8	T	C	17: 24,477,987	N74D	probably benign	Het
Nek9	A	G	12: 85,336,400	I102T	probably damaging	Het
Nme7	C	T	1: 164,345,281	A187V	probably damaging	Het
Nphp1	A	T	2: 127,769,644	W261R	probably damaging	Het
Olfr1148	G	T	2: 87,833,863	G275*	probably null	Het
Olfr1306	A	T	2: 111,912,244	S229T	possibly damaging	Het
Olfr90	A	G	17: 37,085,868	L99P	probably damaging	Het
Orc6	A	G	8: 85,307,643	D165G	probably damaging	Het
Ovca2	A	G	11: 75,178,307	S89P	probably benign	Het
Pcdhb12	T	G	18: 37,437,210	S470A	probably benign	Het
Phactr2	T	C	10: 13,247,188	T397A	probably benign	Het
Pms2	T	C	5: 143,923,519	L50P	probably damaging	Het
Prr36	G	A	8: 4,215,243	P169L	probably damaging	Het
Serpinb11	C	A	1: 107,377,657	S254R	probably benign	Het
Serpinb11	C	A	1: 107,377,658	Q255K	probably benign	Het
Skap2	T	C	6: 51,874,576	T79A	probably damaging	Het
Tbx19	A	T	1: 165,140,198	S327T	possibly damaging	Het
Themis3	A	G	17: 66,559,627	L206P	possibly damaging	Het
Tmem132c	T	A	5: 127,463,029	L373Q	possibly damaging	Het
Unc13c	G	T	9: 73,693,366	N1365K	probably benign	Het
Vmn2r106	A	T	17: 20,277,468	M503K	probably benign	Het
Vmn2r33	A	G	7: 7,563,777	I112T	probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Vps13a	A	C	19: 16,663,775	W2328G	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
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
IGL03181:Dip2b	APN	15	100215207	missense	probably damaging	0.98
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
R9289:Dip2b	UTSW	15	100173271	missense	probably damaging	0.97
R9405:Dip2b	UTSW	15	100195876	missense	probably benign	0.05
R9477:Dip2b	UTSW	15	100038903	missense	probably damaging	1.00
R9485:Dip2b	UTSW	15	100155043	missense	probably benign	0.05
R9533:Dip2b	UTSW	15	100175297	missense	probably benign	0.06
R9581:Dip2b	UTSW	15	100181374	missense	probably damaging	0.99
R9666:Dip2b	UTSW	15	100209580	missense	probably damaging	1.00
X0064:Dip2b	UTSW	15	100115850	missense	probably damaging	1.00

Posted On

2014-05-07