Mutagenetix > Incidental Mutation

Incidental Mutation 'R4480:Dip2b'

331445

Institutional Source

Beutler Lab

Gene Symbol

Dip2b

Ensembl Gene

ENSMUSG00000023026

Gene Name

disco interacting protein 2 homolog B

Synonyms

MMRRC Submission

041737-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.596) question?

Stock #

R4480 (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 100186301 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 935 (T935M)

Ref Sequence

ENSEMBL: ENSMUSP00000097777 (fasta)

Gene Model

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

AlphaFold

Q3UH60

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023768
AA Change: T701M

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023768
Gene: ENSMUSG00000023026
AA Change: T701M

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: T935M

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097777
Gene: ENSMUSG00000023026
AA Change: T935M

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

possibly damaging
Transcript: ENSMUST00000108971
AA Change: T701M

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104599
Gene: ENSMUSG00000023026
AA Change: T701M

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

95% (40/42)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 46,005,239 (GRCm38)	T553A	possibly damaging	Het
Adgrb3	A	T	1: 25,111,748 (GRCm38)	F1135I	probably damaging	Het
Arfgef3	A	T	10: 18,600,600 (GRCm38)	F1490L	probably damaging	Het
Begain	A	G	12: 109,034,123 (GRCm38)	Y446H	probably damaging	Het
Cdh15	A	G	8: 122,864,676 (GRCm38)	H517R	probably benign	Het
D130040H23Rik	C	A	8: 69,302,503 (GRCm38)	H187N	possibly damaging	Het
Eif2s2	T	C	2: 154,888,270 (GRCm38)	T36A	probably benign	Het
Eif4g1	G	T	16: 20,678,843 (GRCm38)		probably benign	Het
Fat3	G	A	9: 15,998,271 (GRCm38)	S2145F	probably damaging	Het
Fbxo10	T	C	4: 45,048,470 (GRCm38)	Y555C	probably damaging	Het
Fpr2	C	T	17: 17,893,753 (GRCm38)	T337I	probably benign	Het
Frem3	A	T	8: 80,611,357 (GRCm38)	Q93L	probably benign	Het
Gapdh	A	G	6: 125,163,182 (GRCm38)	V119A	possibly damaging	Het
Gm3159	T	C	14: 4,398,584 (GRCm38)	Y92H	probably damaging	Het
Hkdc1	T	C	10: 62,391,372 (GRCm38)	I769V	probably benign	Het
Ifne	T	C	4: 88,879,601 (GRCm38)	*193W	probably null	Het
Katna1	T	C	10: 7,738,830 (GRCm38)	V32A	probably damaging	Het
Nup107	T	C	10: 117,761,332 (GRCm38)	I673V	probably benign	Het
Nup188	T	A	2: 30,322,129 (GRCm38)		probably benign	Het
Obscn	T	C	11: 59,131,646 (GRCm38)	R758G	possibly damaging	Het
Olfr1510	G	A	14: 52,410,308 (GRCm38)	A188V	probably damaging	Het
Olfr330	G	T	11: 58,529,801 (GRCm38)	P62T	probably damaging	Het
Pcdhb5	T	A	18: 37,320,752 (GRCm38)	S62T	probably benign	Het
Plekha5	T	C	6: 140,526,479 (GRCm38)	V44A	probably damaging	Het
Psg18	C	T	7: 18,350,862 (GRCm38)	S103N	probably benign	Het
Ptprcap	A	G	19: 4,156,224 (GRCm38)	E102G	probably benign	Het
Ptprs	A	G	17: 56,426,404 (GRCm38)	V804A	possibly damaging	Het
Rab35	C	A	5: 115,637,764 (GRCm38)	S34*	probably null	Het
Slco6d1	T	A	1: 98,507,574 (GRCm38)	Y671*	probably null	Het
Sostdc1	A	G	12: 36,317,166 (GRCm38)	I114V	probably damaging	Het
Tecta	A	G	9: 42,373,233 (GRCm38)	F852S	possibly damaging	Het
Tmem179	T	C	12: 112,503,303 (GRCm38)	E21G	probably benign	Het
Tmem2	A	G	19: 21,815,489 (GRCm38)	Q703R	probably benign	Het
Usp17la	T	A	7: 104,860,690 (GRCm38)	H167Q	probably benign	Het
Vps8	A	T	16: 21,545,236 (GRCm38)		probably benign	Het
Wdr17	A	G	8: 54,664,964 (GRCm38)		probably null	Het
Wdr73	T	C	7: 80,893,221 (GRCm38)	E213G	probably benign	Het
Zfp985	A	G	4: 147,584,079 (GRCm38)	D468G	probably benign	Het

Other mutations in Dip2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Dip2b	APN	15	100,174,501 (GRCm38)	missense	probably damaging	1.00
IGL01716:Dip2b	APN	15	100,209,636 (GRCm38)	missense	probably benign	0.00
IGL01893:Dip2b	APN	15	100,171,220 (GRCm38)	splice site	probably benign
IGL01915:Dip2b	APN	15	100,178,511 (GRCm38)	missense	probably damaging	1.00
IGL02125:Dip2b	APN	15	100,186,250 (GRCm38)	missense	possibly damaging	0.60
IGL02200:Dip2b	APN	15	100,151,202 (GRCm38)	missense	possibly damaging	0.93
IGL02506:Dip2b	APN	15	100,157,281 (GRCm38)	missense	probably damaging	1.00
IGL02571:Dip2b	APN	15	100,157,885 (GRCm38)	missense	possibly damaging	0.93
IGL02706:Dip2b	APN	15	100,215,311 (GRCm38)	missense	probably damaging	0.98
IGL02983:Dip2b	APN	15	100,132,022 (GRCm38)	missense	possibly damaging	0.81
IGL03120:Dip2b	APN	15	100,203,127 (GRCm38)	splice site	probably benign
IGL03181:Dip2b	APN	15	100,215,207 (GRCm38)	missense	probably damaging	0.98
IGL03229:Dip2b	APN	15	100,207,838 (GRCm38)	splice site	probably benign
IGL03399:Dip2b	APN	15	100,175,327 (GRCm38)	missense	possibly damaging	0.63
PIT4131001:Dip2b	UTSW	15	100,202,352 (GRCm38)	missense	probably damaging	1.00
R0009:Dip2b	UTSW	15	100,169,312 (GRCm38)	missense	probably damaging	1.00
R0058:Dip2b	UTSW	15	100,215,240 (GRCm38)	missense	probably benign	0.03
R0058:Dip2b	UTSW	15	100,215,240 (GRCm38)	missense	probably benign	0.03
R0092:Dip2b	UTSW	15	100,202,265 (GRCm38)	missense	probably damaging	1.00
R0201:Dip2b	UTSW	15	100,186,147 (GRCm38)	missense	probably damaging	0.98
R0359:Dip2b	UTSW	15	100,211,993 (GRCm38)	missense	probably damaging	0.98
R0390:Dip2b	UTSW	15	100,193,913 (GRCm38)	missense	probably damaging	0.99
R0564:Dip2b	UTSW	15	100,162,719 (GRCm38)	nonsense	probably null
R0730:Dip2b	UTSW	15	100,171,651 (GRCm38)	missense	probably damaging	1.00
R1144:Dip2b	UTSW	15	100,154,250 (GRCm38)	missense	probably benign	0.11
R1200:Dip2b	UTSW	15	100,209,745 (GRCm38)	missense	probably benign	0.00
R1506:Dip2b	UTSW	15	100,183,113 (GRCm38)	missense	probably damaging	1.00
R1750:Dip2b	UTSW	15	100,178,466 (GRCm38)	missense	probably benign
R1760:Dip2b	UTSW	15	100,212,029 (GRCm38)	missense	probably damaging	1.00
R1773:Dip2b	UTSW	15	100,193,961 (GRCm38)	missense	probably benign	0.00
R1812:Dip2b	UTSW	15	100,198,938 (GRCm38)	splice site	probably null
R2264:Dip2b	UTSW	15	100,203,216 (GRCm38)	missense	probably benign	0.05
R3105:Dip2b	UTSW	15	100,142,137 (GRCm38)	nonsense	probably null
R4029:Dip2b	UTSW	15	100,186,172 (GRCm38)	missense	probably damaging	1.00
R4030:Dip2b	UTSW	15	100,186,172 (GRCm38)	missense	probably damaging	1.00
R4296:Dip2b	UTSW	15	100,181,336 (GRCm38)	missense	probably benign
R4392:Dip2b	UTSW	15	100,162,036 (GRCm38)	missense	probably damaging	1.00
R4564:Dip2b	UTSW	15	100,157,258 (GRCm38)	nonsense	probably null
R4605:Dip2b	UTSW	15	100,209,636 (GRCm38)	missense	probably benign	0.00
R4606:Dip2b	UTSW	15	100,215,329 (GRCm38)	missense	possibly damaging	0.91
R4634:Dip2b	UTSW	15	100,160,491 (GRCm38)	missense	probably damaging	1.00
R4667:Dip2b	UTSW	15	100,151,360 (GRCm38)	missense	probably benign	0.01
R4739:Dip2b	UTSW	15	100,207,777 (GRCm38)	missense	probably damaging	0.98
R4826:Dip2b	UTSW	15	100,169,281 (GRCm38)	missense	probably damaging	0.99
R4870:Dip2b	UTSW	15	100,195,784 (GRCm38)	splice site	probably null
R4877:Dip2b	UTSW	15	100,160,529 (GRCm38)	missense	possibly damaging	0.49
R4932:Dip2b	UTSW	15	100,171,722 (GRCm38)	missense	probably damaging	1.00
R5009:Dip2b	UTSW	15	100,195,784 (GRCm38)	splice site	probably null
R5169:Dip2b	UTSW	15	100,205,113 (GRCm38)	missense	probably damaging	1.00
R5216:Dip2b	UTSW	15	100,211,986 (GRCm38)	missense	probably damaging	1.00
R5218:Dip2b	UTSW	15	100,154,296 (GRCm38)	missense	probably benign	0.00
R5274:Dip2b	UTSW	15	100,212,104 (GRCm38)	missense	possibly damaging	0.54
R5370:Dip2b	UTSW	15	100,211,986 (GRCm38)	missense	probably damaging	1.00
R5420:Dip2b	UTSW	15	100,205,173 (GRCm38)	intron	probably benign
R5447:Dip2b	UTSW	15	100,211,986 (GRCm38)	missense	probably damaging	1.00
R5670:Dip2b	UTSW	15	100,190,104 (GRCm38)	missense	possibly damaging	0.80
R5768:Dip2b	UTSW	15	100,157,945 (GRCm38)	missense	probably benign	0.32
R5908:Dip2b	UTSW	15	100,151,184 (GRCm38)	missense	possibly damaging	0.93
R5957:Dip2b	UTSW	15	100,209,694 (GRCm38)	missense	probably benign	0.03
R5987:Dip2b	UTSW	15	100,190,079 (GRCm38)	missense	probably damaging	1.00
R6260:Dip2b	UTSW	15	100,162,702 (GRCm38)	missense	probably benign	0.05
R6325:Dip2b	UTSW	15	100,154,282 (GRCm38)	missense	probably benign	0.00
R6367:Dip2b	UTSW	15	100,115,914 (GRCm38)	missense	possibly damaging	0.50
R6391:Dip2b	UTSW	15	100,151,276 (GRCm38)	missense	probably damaging	1.00
R6422:Dip2b	UTSW	15	100,199,011 (GRCm38)	missense	probably damaging	0.98
R6818:Dip2b	UTSW	15	100,193,954 (GRCm38)	missense	probably benign	0.09
R6922:Dip2b	UTSW	15	100,193,843 (GRCm38)	missense	probably benign	0.25
R7002:Dip2b	UTSW	15	100,160,465 (GRCm38)	missense	probably benign	0.43
R7076:Dip2b	UTSW	15	100,157,972 (GRCm38)	splice site	probably null
R7176:Dip2b	UTSW	15	100,169,318 (GRCm38)	missense	probably damaging	1.00
R7255:Dip2b	UTSW	15	100,209,627 (GRCm38)	missense	probably benign	0.00
R7463:Dip2b	UTSW	15	100,154,157 (GRCm38)	missense	probably benign
R7513:Dip2b	UTSW	15	100,207,748 (GRCm38)	splice site	probably null
R7876:Dip2b	UTSW	15	100,191,041 (GRCm38)	missense	probably benign	0.02
R8368:Dip2b	UTSW	15	100,154,243 (GRCm38)	missense	probably benign	0.00
R9289:Dip2b	UTSW	15	100,173,271 (GRCm38)	missense	probably damaging	0.97
R9405:Dip2b	UTSW	15	100,195,876 (GRCm38)	missense	probably benign	0.05
R9477:Dip2b	UTSW	15	100,038,903 (GRCm38)	missense	probably damaging	1.00
R9485:Dip2b	UTSW	15	100,155,043 (GRCm38)	missense	probably benign	0.05
R9533:Dip2b	UTSW	15	100,175,297 (GRCm38)	missense	probably benign	0.06
R9581:Dip2b	UTSW	15	100,181,374 (GRCm38)	missense	probably damaging	0.99
R9666:Dip2b	UTSW	15	100,209,580 (GRCm38)	missense	probably damaging	1.00
X0064:Dip2b	UTSW	15	100,115,850 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGCATCTCACTGGATGTGTC -3'
(R):5'- AAGTAGTGTGTCCCCTACCC -3'

Sequencing Primer
(F):5'- CATCTCACTGGATGTGTCTCTGTG -3'
(R):5'- TACCCCACAGCAGGCTTG -3'

Posted On

2015-07-21