Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02983:Dip2b'

406620

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: 0.636) question?

Stock #

IGL02983

Quality Score

Status

Chromosome

Chromosomal Location

99936545-100117354 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 100029903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 98 (R98L)

Ref Sequence

ENSEMBL: ENSMUSP00000097777 (fasta)

Gene Model

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

AlphaFold

Q3UH60

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100203
AA Change: R98L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097777
Gene: ENSMUSG00000023026
AA Change: R98L

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,240,663 (GRCm39)	N842S	probably benign	Het
Acvr1b	A	G	15: 101,100,959 (GRCm39)	R374G	probably damaging	Het
Brip1	T	C	11: 86,029,950 (GRCm39)	I565V	probably benign	Het
Camta2	C	T	11: 70,562,848 (GRCm39)	R959Q	probably damaging	Het
Cbln2	A	G	18: 86,731,504 (GRCm39)	E104G	probably benign	Het
Cdc42ep4	T	C	11: 113,619,995 (GRCm39)	K132R	probably benign	Het
Clcnka	T	A	4: 141,117,442 (GRCm39)	I452F	probably damaging	Het
Clec4a3	T	A	6: 122,944,526 (GRCm39)		probably null	Het
Crat	A	C	2: 30,294,538 (GRCm39)		probably null	Het
Cspp1	A	G	1: 10,197,750 (GRCm39)	K227R	probably benign	Het
Ddx1	A	T	12: 13,273,863 (GRCm39)	I588N	probably damaging	Het
Dock5	G	A	14: 68,002,119 (GRCm39)	P1617L	probably damaging	Het
Fa2h	C	T	8: 112,073,154 (GRCm39)		probably null	Het
Fezf1	T	A	6: 23,247,871 (GRCm39)	N68I	probably damaging	Het
Gabrb2	A	T	11: 42,312,227 (GRCm39)	L17F	probably benign	Het
Gm17078	T	C	14: 51,848,647 (GRCm39)	K30R	probably benign	Het
Gramd4	G	A	15: 86,011,219 (GRCm39)	V249M	probably damaging	Het
Kcnd2	A	C	6: 21,216,554 (GRCm39)	D86A	probably damaging	Het
Lrp1	T	C	10: 127,386,068 (GRCm39)	E3486G	probably damaging	Het
Ltb	A	G	17: 35,413,646 (GRCm39)	D50G	probably benign	Het
Med18	A	T	4: 132,186,997 (GRCm39)	Y167*	probably null	Het
Nat14	G	A	7: 4,927,127 (GRCm39)	A100T	probably damaging	Het
Nscme3l	A	G	19: 5,553,209 (GRCm39)	F191L	possibly damaging	Het
Nxph2	T	C	2: 23,290,374 (GRCm39)	V242A	probably damaging	Het
Or1j10	T	A	2: 36,267,649 (GRCm39)	I287N	probably damaging	Het
Or1x2	T	C	11: 50,918,207 (GRCm39)	V126A	probably damaging	Het
Or2a55-ps1	T	C	6: 43,071,582 (GRCm39)		noncoding transcript	Het
Or6c219	T	A	10: 129,781,058 (GRCm39)	N291I	probably damaging	Het
Pramel15	T	C	4: 144,099,697 (GRCm39)	E356G	probably benign	Het
Rad21l	A	G	2: 151,497,040 (GRCm39)	L358S	probably damaging	Het
Rasgef1c	A	G	11: 49,847,876 (GRCm39)	T4A	possibly damaging	Het
Spata31d1a	A	G	13: 59,851,508 (GRCm39)	S207P	possibly damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Szt2	T	C	4: 118,222,976 (GRCm39)		probably benign	Het
Taf6	T	C	5: 138,177,142 (GRCm39)	T642A	probably benign	Het
Tmem30a	A	T	9: 79,678,725 (GRCm39)	M277K	possibly damaging	Het
Vmn1r86	T	C	7: 12,836,741 (GRCm39)	D45G	probably damaging	Het
Xkr5	T	C	8: 18,983,848 (GRCm39)	I565V	probably benign	Het
Zfp526	C	T	7: 24,923,840 (GRCm39)	A33V	probably benign	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
IGL01893:Dip2b	APN	15	100,069,101 (GRCm39)	splice site	probably benign
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
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

2016-08-02