Mutagenetix > Incidental Mutation

Incidental Mutation 'R9533:Dip2b'

719581

Institutional Source

Beutler Lab

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 #

R9533 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99936545-100117354 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100073178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 760 (M760K)

Ref Sequence

ENSEMBL: ENSMUSP00000097777 (fasta)

Gene Model

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

AlphaFold

Q3UH60

Predicted Effect

probably benign
Transcript: ENSMUST00000023768
AA Change: M526K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000023768
Gene: ENSMUSG00000023026
AA Change: M526K

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
AA Change: M760K

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000097777
Gene: ENSMUSG00000023026
AA Change: M760K

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (40/40)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	C	T	11: 110,102,582 (GRCm39)	V881I	probably benign	Het
Acot1	C	T	12: 84,063,988 (GRCm39)	S57F		Het
Actr3	T	C	1: 125,339,048 (GRCm39)	I97V	probably benign	Het
C4b	A	T	17: 34,956,698 (GRCm39)	C633*	probably null	Het
Cdh19	T	A	1: 110,817,589 (GRCm39)	T718S	probably damaging	Het
Coasy	T	A	11: 100,975,852 (GRCm39)	S355T	probably benign	Het
Coch	A	G	12: 51,650,132 (GRCm39)	I374V	possibly damaging	Het
Dhrs7l	C	T	12: 72,675,050 (GRCm39)		probably benign	Het
Evi5	A	G	5: 107,957,566 (GRCm39)	Y428H	probably damaging	Het
Fst	G	A	13: 114,592,397 (GRCm39)	R107*	probably null	Het
Gba1	A	G	3: 89,114,756 (GRCm39)	T387A	probably benign	Het
Gid8	A	T	2: 180,358,713 (GRCm39)	Q126L	probably damaging	Het
Iqgap1	A	G	7: 80,383,929 (GRCm39)	V1045A	possibly damaging	Het
Kif23	G	A	9: 61,832,924 (GRCm39)	S535L	probably benign	Het
Krt79	G	A	15: 101,848,417 (GRCm39)	A78V	possibly damaging	Het
Lama2	A	G	10: 26,862,871 (GRCm39)	F2964S	probably damaging	Het
Lamp3	T	C	16: 19,519,808 (GRCm39)	D125G	probably benign	Het
Lrrc15	C	T	16: 30,092,637 (GRCm39)	G234D	possibly damaging	Het
Myo7b	A	G	18: 32,108,297 (GRCm39)	V1188A	probably benign	Het
Nbeal2	T	C	9: 110,473,729 (GRCm39)	T37A	probably benign	Het
Nlrp1b	T	C	11: 71,109,095 (GRCm39)	I135M	probably benign	Het
Or2a51	A	G	6: 43,178,991 (GRCm39)	R138G	probably benign	Het
Or6c69	T	A	10: 129,747,404 (GRCm39)	I248F	probably benign	Het
P3h2	T	C	16: 25,789,725 (GRCm39)	Y514C	probably damaging	Het
Pcdha5	A	G	18: 37,093,986 (GRCm39)	N165S	probably damaging	Het
Phf10	G	C	17: 15,175,366 (GRCm39)	H157D	probably damaging	Het
Ppip5k2	C	T	1: 97,661,792 (GRCm39)	R708H	probably benign	Het
Prr12	A	G	7: 44,698,692 (GRCm39)	S408P	unknown	Het
Rab3a	A	T	8: 71,209,804 (GRCm39)	Y123F	probably damaging	Het
Rbak	A	T	5: 143,160,172 (GRCm39)	S294T	probably damaging	Het
Sarm1	T	C	11: 78,373,996 (GRCm39)	D677G	probably damaging	Het
Scly	A	T	1: 91,228,413 (GRCm39)		probably benign	Het
Slc26a6	T	C	9: 108,735,481 (GRCm39)	V385A	probably damaging	Het
Slc66a2	T	C	18: 80,327,034 (GRCm39)	V209A	unknown	Het
Srp72	T	C	5: 77,128,274 (GRCm39)	V165A	probably benign	Het
Tars3	A	C	7: 65,333,808 (GRCm39)		probably null	Het
Tspan1	T	A	4: 116,020,211 (GRCm39)	M233L	probably benign	Het
Zfp574	G	A	7: 24,780,379 (GRCm39)	G467D	probably damaging	Het
Zfp85	A	G	13: 67,897,722 (GRCm39)	S117P	probably benign	Het
Zfp932	C	G	5: 110,157,787 (GRCm39)	P495R	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- GCAACTCTCTGGGTTTGTAAAAC -3'
(R):5'- TTAAAGATAAAGGACCTCCACGAG -3'

Sequencing Primer
(F):5'- CAAAATTGTTACTTTGCAAGTTTTCC -3'
(R):5'- CCGTGTGTAGAACCTGACCTTAG -3'

Posted On

2022-07-18