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: 0.615) question?

Stock #

IGL01893

Quality Score

Status

Chromosome

Chromosomal Location

99936545-100117354 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 100069101 bp (GRCm39)

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: 116,582,198 (GRCm39)	I275F	probably damaging	Het
Avil	G	A	10: 126,856,415 (GRCm39)	E815K	possibly damaging	Het
Car9	T	A	4: 43,510,252 (GRCm39)	I278N	probably damaging	Het
Cast	T	A	13: 74,875,408 (GRCm39)	K480*	probably null	Het
Cenpj	A	G	14: 56,790,931 (GRCm39)	F373L	probably damaging	Het
Cspp1	T	C	1: 10,204,366 (GRCm39)		probably null	Het
Diaph3	G	A	14: 87,156,288 (GRCm39)	T675I	possibly damaging	Het
Dnah1	T	C	14: 30,988,427 (GRCm39)	D3425G	probably damaging	Het
Dolk	A	G	2: 30,175,926 (GRCm39)	Y40H	probably benign	Het
Drosha	T	C	15: 12,866,736 (GRCm39)		probably benign	Het
Dusp15	A	G	2: 152,790,956 (GRCm39)		probably null	Het
Edrf1	T	C	7: 133,258,831 (GRCm39)	F770L	probably benign	Het
Gabra1	T	C	11: 42,024,586 (GRCm39)	K363R	possibly damaging	Het
Glipr1l1	A	C	10: 111,912,074 (GRCm39)	T203P	probably benign	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
H2-Q10	T	C	17: 35,784,168 (GRCm39)	S270P	probably damaging	Het
Hipk2	A	T	6: 38,795,330 (GRCm39)	M313K	probably benign	Het
Htt	T	A	5: 35,034,174 (GRCm39)	I1920N	probably damaging	Het
Lsr	A	T	7: 30,661,657 (GRCm39)	V210E	possibly damaging	Het
Mbtd1	A	T	11: 93,812,238 (GRCm39)	I181L	probably null	Het
Mettl16	A	T	11: 74,696,097 (GRCm39)	T273S	possibly damaging	Het
Mlst8	T	C	17: 24,696,961 (GRCm39)	N74D	probably benign	Het
Nek9	A	G	12: 85,383,174 (GRCm39)	I102T	probably damaging	Het
Nme7	C	T	1: 164,172,850 (GRCm39)	A187V	probably damaging	Het
Nphp1	A	T	2: 127,611,564 (GRCm39)	W261R	probably damaging	Het
Or12e13	G	T	2: 87,664,207 (GRCm39)	G275*	probably null	Het
Or2h2	A	G	17: 37,396,760 (GRCm39)	L99P	probably damaging	Het
Or4f14	A	T	2: 111,742,589 (GRCm39)	S229T	possibly damaging	Het
Orc6	A	G	8: 86,034,272 (GRCm39)	D165G	probably damaging	Het
Ovca2	A	G	11: 75,069,133 (GRCm39)	S89P	probably benign	Het
Pcdhb12	T	G	18: 37,570,263 (GRCm39)	S470A	probably benign	Het
Phactr2	T	C	10: 13,122,932 (GRCm39)	T397A	probably benign	Het
Pms2	T	C	5: 143,860,337 (GRCm39)	L50P	probably damaging	Het
Prr36	G	A	8: 4,265,243 (GRCm39)	P169L	probably damaging	Het
Serpinb11	C	A	1: 107,305,387 (GRCm39)	S254R	probably benign	Het
Serpinb11	C	A	1: 107,305,388 (GRCm39)	Q255K	probably benign	Het
Skap2	T	C	6: 51,851,556 (GRCm39)	T79A	probably damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Tbx19	A	T	1: 164,967,767 (GRCm39)	S327T	possibly damaging	Het
Themis3	A	G	17: 66,866,622 (GRCm39)	L206P	possibly damaging	Het
Tmem132c	T	A	5: 127,540,093 (GRCm39)	L373Q	possibly damaging	Het
Unc13c	G	T	9: 73,600,648 (GRCm39)	N1365K	probably benign	Het
Vmn2r106	A	T	17: 20,497,730 (GRCm39)	M503K	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r33	A	G	7: 7,566,776 (GRCm39)	I112T	probably benign	Het
Vps13a	A	C	19: 16,641,139 (GRCm39)	W2328G	probably damaging	Het

Other mutations in Dip2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Dip2b	APN	15	100,072,382 (GRCm39)	missense	probably damaging	1.00
IGL01716:Dip2b	APN	15	100,107,517 (GRCm39)	missense	probably benign	0.00
IGL01915:Dip2b	APN	15	100,076,392 (GRCm39)	missense	probably damaging	1.00
IGL02125:Dip2b	APN	15	100,084,131 (GRCm39)	missense	possibly damaging	0.60
IGL02200:Dip2b	APN	15	100,049,083 (GRCm39)	missense	possibly damaging	0.93
IGL02506:Dip2b	APN	15	100,055,162 (GRCm39)	missense	probably damaging	1.00
IGL02571:Dip2b	APN	15	100,055,766 (GRCm39)	missense	possibly damaging	0.93
IGL02706:Dip2b	APN	15	100,113,192 (GRCm39)	missense	probably damaging	0.98
IGL02983:Dip2b	APN	15	100,029,903 (GRCm39)	missense	possibly damaging	0.81
IGL03120:Dip2b	APN	15	100,101,008 (GRCm39)	splice site	probably benign
IGL03181:Dip2b	APN	15	100,113,088 (GRCm39)	missense	probably damaging	0.98
IGL03229:Dip2b	APN	15	100,105,719 (GRCm39)	splice site	probably benign
IGL03399:Dip2b	APN	15	100,073,208 (GRCm39)	missense	possibly damaging	0.63
PIT4131001:Dip2b	UTSW	15	100,100,233 (GRCm39)	missense	probably damaging	1.00
R0009:Dip2b	UTSW	15	100,067,193 (GRCm39)	missense	probably damaging	1.00
R0058:Dip2b	UTSW	15	100,113,121 (GRCm39)	missense	probably benign	0.03
R0058:Dip2b	UTSW	15	100,113,121 (GRCm39)	missense	probably benign	0.03
R0092:Dip2b	UTSW	15	100,100,146 (GRCm39)	missense	probably damaging	1.00
R0201:Dip2b	UTSW	15	100,084,028 (GRCm39)	missense	probably damaging	0.98
R0359:Dip2b	UTSW	15	100,109,874 (GRCm39)	missense	probably damaging	0.98
R0390:Dip2b	UTSW	15	100,091,794 (GRCm39)	missense	probably damaging	0.99
R0564:Dip2b	UTSW	15	100,060,600 (GRCm39)	nonsense	probably null
R0730:Dip2b	UTSW	15	100,069,532 (GRCm39)	missense	probably damaging	1.00
R1144:Dip2b	UTSW	15	100,052,131 (GRCm39)	missense	probably benign	0.11
R1200:Dip2b	UTSW	15	100,107,626 (GRCm39)	missense	probably benign	0.00
R1506:Dip2b	UTSW	15	100,080,994 (GRCm39)	missense	probably damaging	1.00
R1750:Dip2b	UTSW	15	100,076,347 (GRCm39)	missense	probably benign
R1760:Dip2b	UTSW	15	100,109,910 (GRCm39)	missense	probably damaging	1.00
R1773:Dip2b	UTSW	15	100,091,842 (GRCm39)	missense	probably benign	0.00
R1812:Dip2b	UTSW	15	100,096,819 (GRCm39)	splice site	probably null
R2264:Dip2b	UTSW	15	100,101,097 (GRCm39)	missense	probably benign	0.05
R3105:Dip2b	UTSW	15	100,040,018 (GRCm39)	nonsense	probably null
R4029:Dip2b	UTSW	15	100,084,053 (GRCm39)	missense	probably damaging	1.00
R4030:Dip2b	UTSW	15	100,084,053 (GRCm39)	missense	probably damaging	1.00
R4296:Dip2b	UTSW	15	100,079,217 (GRCm39)	missense	probably benign
R4392:Dip2b	UTSW	15	100,059,917 (GRCm39)	missense	probably damaging	1.00
R4480:Dip2b	UTSW	15	100,084,182 (GRCm39)	missense	probably damaging	0.99
R4564:Dip2b	UTSW	15	100,055,139 (GRCm39)	nonsense	probably null
R4605:Dip2b	UTSW	15	100,107,517 (GRCm39)	missense	probably benign	0.00
R4606:Dip2b	UTSW	15	100,113,210 (GRCm39)	missense	possibly damaging	0.91
R4634:Dip2b	UTSW	15	100,058,372 (GRCm39)	missense	probably damaging	1.00
R4667:Dip2b	UTSW	15	100,049,241 (GRCm39)	missense	probably benign	0.01
R4739:Dip2b	UTSW	15	100,105,658 (GRCm39)	missense	probably damaging	0.98
R4826:Dip2b	UTSW	15	100,067,162 (GRCm39)	missense	probably damaging	0.99
R4870:Dip2b	UTSW	15	100,093,665 (GRCm39)	splice site	probably null
R4877:Dip2b	UTSW	15	100,058,410 (GRCm39)	missense	possibly damaging	0.49
R4932:Dip2b	UTSW	15	100,069,603 (GRCm39)	missense	probably damaging	1.00
R5009:Dip2b	UTSW	15	100,093,665 (GRCm39)	splice site	probably null
R5169:Dip2b	UTSW	15	100,102,994 (GRCm39)	missense	probably damaging	1.00
R5216:Dip2b	UTSW	15	100,109,867 (GRCm39)	missense	probably damaging	1.00
R5218:Dip2b	UTSW	15	100,052,177 (GRCm39)	missense	probably benign	0.00
R5274:Dip2b	UTSW	15	100,109,985 (GRCm39)	missense	possibly damaging	0.54
R5370:Dip2b	UTSW	15	100,109,867 (GRCm39)	missense	probably damaging	1.00
R5420:Dip2b	UTSW	15	100,103,054 (GRCm39)	intron	probably benign
R5447:Dip2b	UTSW	15	100,109,867 (GRCm39)	missense	probably damaging	1.00
R5670:Dip2b	UTSW	15	100,087,985 (GRCm39)	missense	possibly damaging	0.80
R5768:Dip2b	UTSW	15	100,055,826 (GRCm39)	missense	probably benign	0.32
R5908:Dip2b	UTSW	15	100,049,065 (GRCm39)	missense	possibly damaging	0.93
R5957:Dip2b	UTSW	15	100,107,575 (GRCm39)	missense	probably benign	0.03
R5987:Dip2b	UTSW	15	100,087,960 (GRCm39)	missense	probably damaging	1.00
R6260:Dip2b	UTSW	15	100,060,583 (GRCm39)	missense	probably benign	0.05
R6325:Dip2b	UTSW	15	100,052,163 (GRCm39)	missense	probably benign	0.00
R6367:Dip2b	UTSW	15	100,013,795 (GRCm39)	missense	possibly damaging	0.50
R6391:Dip2b	UTSW	15	100,049,157 (GRCm39)	missense	probably damaging	1.00
R6422:Dip2b	UTSW	15	100,096,892 (GRCm39)	missense	probably damaging	0.98
R6818:Dip2b	UTSW	15	100,091,835 (GRCm39)	missense	probably benign	0.09
R6922:Dip2b	UTSW	15	100,091,724 (GRCm39)	missense	probably benign	0.25
R7002:Dip2b	UTSW	15	100,058,346 (GRCm39)	missense	probably benign	0.43
R7076:Dip2b	UTSW	15	100,055,853 (GRCm39)	splice site	probably null
R7176:Dip2b	UTSW	15	100,067,199 (GRCm39)	missense	probably damaging	1.00
R7255:Dip2b	UTSW	15	100,107,508 (GRCm39)	missense	probably benign	0.00
R7463:Dip2b	UTSW	15	100,052,038 (GRCm39)	missense	probably benign
R7513:Dip2b	UTSW	15	100,105,629 (GRCm39)	splice site	probably null
R7876:Dip2b	UTSW	15	100,088,922 (GRCm39)	missense	probably benign	0.02
R8368:Dip2b	UTSW	15	100,052,124 (GRCm39)	missense	probably benign	0.00
R9289:Dip2b	UTSW	15	100,071,152 (GRCm39)	missense	probably damaging	0.97
R9405:Dip2b	UTSW	15	100,093,757 (GRCm39)	missense	probably benign	0.05
R9477:Dip2b	UTSW	15	99,936,784 (GRCm39)	missense	probably damaging	1.00
R9485:Dip2b	UTSW	15	100,052,924 (GRCm39)	missense	probably benign	0.05
R9533:Dip2b	UTSW	15	100,073,178 (GRCm39)	missense	probably benign	0.06
R9581:Dip2b	UTSW	15	100,079,255 (GRCm39)	missense	probably damaging	0.99
R9666:Dip2b	UTSW	15	100,107,461 (GRCm39)	missense	probably damaging	1.00
X0064:Dip2b	UTSW	15	100,013,731 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07