Mutagenetix > Incidental Mutation

Incidental Mutation 'R4029:Dip2b'

313138

Institutional Source

Beutler Lab

Gene Symbol

Dip2b

Ensembl Gene

ENSMUSG00000023026

Gene Name

disco interacting protein 2 homolog B

Synonyms

MMRRC Submission

040959-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.615) question?

Stock #

R4029 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

99936545-100117354 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100084053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 892 (Y892C)

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: Y658C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023768
Gene: ENSMUSG00000023026
AA Change: Y658C

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: Y892C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097777
Gene: ENSMUSG00000023026
AA Change: Y892C

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: Y658C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104599
Gene: ENSMUSG00000023026
AA Change: Y658C

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: ENSMUST00000229080

Meta Mutation Damage Score

0.6102

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (31/31)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	A	G	7: 119,293,008 (GRCm39)	K46R	probably benign	Het
Ank	A	G	15: 27,544,343 (GRCm39)	N35D	probably damaging	Het
Atp9a	A	T	2: 168,531,245 (GRCm39)	I174N	probably damaging	Het
Bfsp1	G	A	2: 143,673,749 (GRCm39)		probably benign	Het
Cenpq	T	C	17: 41,238,140 (GRCm39)	T125A	probably damaging	Het
Dcun1d4	A	G	5: 73,691,980 (GRCm39)	D89G	probably damaging	Het
Dmrt2	T	G	19: 25,655,498 (GRCm39)	S366A	probably damaging	Het
Exoc7	C	T	11: 116,197,814 (GRCm39)		probably benign	Het
Gabra4	G	T	5: 71,729,532 (GRCm39)	T390K	probably benign	Het
Gpr68	A	G	12: 100,845,475 (GRCm39)	L23P	probably damaging	Het
Krt17	T	A	11: 100,148,349 (GRCm39)	N364I	probably damaging	Het
Lefty1	T	C	1: 180,765,346 (GRCm39)	S305P	probably benign	Het
Ly6g6d	T	A	17: 35,290,636 (GRCm39)	Q98L	probably benign	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Nck2	T	C	1: 43,593,251 (GRCm39)	F153L	probably benign	Het
Niban1	G	A	1: 151,571,441 (GRCm39)	V239I	probably benign	Het
Nme4	T	C	17: 26,313,196 (GRCm39)		probably null	Het
Nup35	A	G	2: 80,483,318 (GRCm39)	D172G	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Oog4	A	T	4: 143,166,770 (GRCm39)	N11K	probably benign	Het
Phlpp1	T	A	1: 106,320,279 (GRCm39)	S1425T	probably damaging	Het
Pkd1l3	T	A	8: 110,350,603 (GRCm39)	S483T	possibly damaging	Het
Pld2	A	G	11: 70,445,731 (GRCm39)	N655S	probably damaging	Het
Pramel28	T	A	4: 143,692,354 (GRCm39)	T216S	probably benign	Het
Psmd2	G	A	16: 20,481,955 (GRCm39)	G896D	probably damaging	Het
Rcn1	G	T	2: 105,229,395 (GRCm39)	Y52*	probably null	Het
Reck	T	C	4: 43,922,931 (GRCm39)	I402T	probably damaging	Het
Shisal2a	G	T	4: 108,240,412 (GRCm39)	C43*	probably null	Het
Ston2	T	C	12: 91,615,037 (GRCm39)	Q457R	possibly damaging	Het
Syt10	T	C	15: 89,698,741 (GRCm39)	E201G	probably benign	Het
Ube4a	G	A	9: 44,861,198 (GRCm39)		probably benign	Het
Wdr49	C	A	3: 75,230,972 (GRCm39)	L563F	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGTGTCAAGTATACCTTGCAGG -3'
(R):5'- TCAGTCTTGCAGAGTCCACG -3'

Sequencing Primer
(F):5'- CCTTGCAGGTGGTAGCAG -3'
(R):5'- GAAGCCACATTATTACCTGGTTGC -3'

Posted On

2015-04-30