Mutagenetix > Incidental Mutation

Incidental Mutation 'R0730:Dip2b'

67510

Institutional Source

Beutler Lab

Gene Symbol

Dip2b

Ensembl Gene

ENSMUSG00000023026

Gene Name

disco interacting protein 2 homolog B

Synonyms

MMRRC Submission

038911-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.615) question?

Stock #

R0730 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100038664-100219473 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100171651 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 619 (A619V)

Ref Sequence

ENSEMBL: ENSMUSP00000097777 (fasta)

Gene Model

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

AlphaFold

Q3UH60

Predicted Effect

probably damaging
Transcript: ENSMUST00000023768
AA Change: A385V

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023768
Gene: ENSMUSG00000023026
AA Change: A385V

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: A619V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097777
Gene: ENSMUSG00000023026
AA Change: A619V

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 damaging
Transcript: ENSMUST00000108971
AA Change: A385V

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104599
Gene: ENSMUSG00000023026
AA Change: A385V

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

Meta Mutation Damage Score

0.2254

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.1%

Validation Efficiency

99% (99/100)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	T	A	3: 108,469,535	H509L	probably benign	Het
9930021J03Rik	T	A	19: 29,717,981	I1438F	probably benign	Het
Adam9	A	T	8: 24,996,758	I168N	probably benign	Het
Adamts20	G	A	15: 94,347,690	A577V	probably benign	Het
Agtr1a	A	T	13: 30,381,296	S115C	probably damaging	Het
Ankrd11	T	C	8: 122,891,953	Y1720C	probably damaging	Het
Ano6	A	T	15: 95,920,371	T353S	probably damaging	Het
App	A	G	16: 85,079,952	F184L	probably damaging	Het
Arhgef38	T	A	3: 133,137,471	Y446F	probably benign	Het
Aspg	T	A	12: 112,112,259	Y57*	probably null	Het
Atp1a4	G	A	1: 172,240,207		probably benign	Het
Bdp1	G	A	13: 100,058,951		probably benign	Het
Bicd2	T	A	13: 49,378,241	S246T	possibly damaging	Het
Bsn	T	A	9: 108,106,812	M3348L	unknown	Het
Cacna1c	C	T	6: 118,612,625	R1446H	probably damaging	Het
Cacna2d3	T	C	14: 28,982,365	I820V	probably benign	Het
Cdc40	A	G	10: 40,844,956		probably benign	Het
Cdh23	T	C	10: 60,323,714	E2094G	probably damaging	Het
Celsr2	T	A	3: 108,398,606	N2061Y	probably damaging	Het
Cfap206	G	A	4: 34,711,391	A502V	probably benign	Het
Cfap54	T	C	10: 93,034,737	T29A	probably benign	Het
Cfap57	T	C	4: 118,612,920		probably null	Het
Chd5	A	G	4: 152,347,984	E43G	possibly damaging	Het
Clk1	G	A	1: 58,414,399	H343Y	probably benign	Het
Cntn4	A	C	6: 106,550,486	K443T	probably damaging	Het
Csn2	G	A	5: 87,694,952	A72V	possibly damaging	Het
Ctdp1	T	A	18: 80,450,242	H346L	probably benign	Het
Ctif	A	T	18: 75,565,012	N192K	probably damaging	Het
Ddr2	G	A	1: 169,995,566	A383V	probably benign	Het
Derl3	C	T	10: 75,895,242		probably benign	Het
Dgkh	T	C	14: 78,584,479	I865V	probably damaging	Het
Eml1	A	G	12: 108,530,326	T614A	possibly damaging	Het
Eogt	G	C	6: 97,116,009	Y402*	probably null	Het
Erbb4	A	G	1: 68,259,290	V647A	probably damaging	Het
Esm1	G	T	13: 113,213,502		probably null	Het
Fbxo31	A	G	8: 121,555,364		probably benign	Het
Fbxw5	T	A	2: 25,504,618	D201E	possibly damaging	Het
Fgfr1	G	A	8: 25,555,744	D123N	probably benign	Het
G530012D18Rik	A	C	1: 85,577,036		probably benign	Het
Gnat1	G	A	9: 107,679,463	T29I	probably damaging	Het
Gtf2ird2	A	T	5: 134,192,758	R67*	probably null	Het
Iltifb	A	T	10: 118,294,237	D87E	probably benign	Het
Kcnq3	T	C	15: 65,995,608	T729A	probably benign	Het
Klrc2	A	T	6: 129,658,696	S156R	probably damaging	Het
Krt76	A	T	15: 101,887,349	L462Q	probably damaging	Het
Lama3	C	A	18: 12,456,850		probably benign	Het
Lin28a	A	T	4: 134,008,008	S56T	probably damaging	Het
Macf1	A	G	4: 123,382,530		probably benign	Het
Macrod2	C	T	2: 142,217,674		probably benign	Het
Mansc1	C	T	6: 134,617,461		probably benign	Het
Map1b	G	T	13: 99,429,766	S2149*	probably null	Het
Mgst1	A	T	6: 138,147,669	T34S	probably benign	Het
Mlf2	C	T	6: 124,934,391	T123M	probably damaging	Het
Mospd2	C	T	X: 164,948,257		probably benign	Het
Mrpl15	A	T	1: 4,777,611	V155E	probably damaging	Het
Mstn	A	T	1: 53,061,794	Y10F	possibly damaging	Het
Myo1g	C	T	11: 6,520,794	V21M	probably damaging	Het
Myom2	T	C	8: 15,099,326	I599T	probably benign	Het
Ndc80	A	T	17: 71,496,246	N633K	probably benign	Het
Nhs	C	A	X: 161,837,300	V1487L	possibly damaging	Het
Npc1	T	C	18: 12,219,325	T106A	probably benign	Het
Nup133	C	T	8: 123,949,008	V57M	probably benign	Het
Nup98	T	A	7: 102,160,716	T536S	probably damaging	Het
Olfr1045	A	G	2: 86,198,725	V9A	probably benign	Het
Olfr1106	T	C	2: 87,049,148	I29M	probably benign	Het
Olfr818	T	A	10: 129,945,111	H317L	probably benign	Het
Oprm1	T	C	10: 6,832,652		probably benign	Het
Ostf1	C	T	19: 18,604,207	V14I	unknown	Het
Pcdhb14	C	A	18: 37,448,868	D342E	probably damaging	Het
Pdia3	G	A	2: 121,432,377	G275S	probably damaging	Het
Pdpr	T	C	8: 111,125,755		probably null	Het
Plce1	G	A	19: 38,716,691	V847M	probably damaging	Het
Pon3	A	G	6: 5,230,444	M288T	probably benign	Het
Psd2	A	T	18: 35,978,574	D84V	possibly damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Ralgapa1	T	C	12: 55,665,663	K1808E	probably damaging	Het
Ramp3	T	C	11: 6,676,476		probably benign	Het
Rasgrf1	T	A	9: 89,951,009		probably benign	Het
Rictor	A	G	15: 6,773,986		probably benign	Het
Rptor	A	T	11: 119,884,954	I984F	probably benign	Het
Slc1a6	C	T	10: 78,796,008	P223S	probably benign	Het
Taar8b	A	C	10: 24,092,026	V90G	probably damaging	Het
Tbc1d21	A	G	9: 58,359,877	V327A	probably benign	Het
Tex21	T	C	12: 76,204,166	T499A	probably benign	Het
Tg	A	T	15: 66,678,789	D256V	probably damaging	Het
Tmf1	A	G	6: 97,176,492	S207P	probably benign	Het
Tpr	A	G	1: 150,393,407		probably benign	Het
Ufd1	A	G	16: 18,814,887	T21A	probably damaging	Het
Unc13a	T	C	8: 71,656,285	D115G	possibly damaging	Het
Usb1	T	A	8: 95,344,041	F198L	probably damaging	Het
Utrn	A	T	10: 12,698,158		probably benign	Het
Vars	A	G	17: 35,014,300	N954S	probably damaging	Het
Wdr17	C	T	8: 54,693,096	A90T	possibly damaging	Het
Wdr33	C	T	18: 31,835,376		probably benign	Het
Zfp236	A	G	18: 82,640,244		probably benign	Het
Zfp445	A	T	9: 122,861,758	V124E	probably damaging	Het
Zfp616	A	T	11: 74,084,822	H639L	probably damaging	Het
Zfyve16	C	A	13: 92,521,477	S642I	probably damaging	Het
Zswim5	C	T	4: 116,985,746	T896I	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- GCCACAGTTAGTGCCGTTGAATCC -3'
(R):5'- TGAAACGGGCAAGCTTTGTTGTATG -3'

Sequencing Primer
(F):5'- AGTGCCGTTGAATCCTATACTG -3'
(R):5'- GGAGTTCTACGTCCAGTACTCA -3'

Posted On

2013-09-03