Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02706:Dip2b'

304337

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: 0.615) question?

Stock #

IGL02706

Quality Score

Status

Chromosome

Chromosomal Location

99936545-100117354 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 100113192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 1302 (V1302F)

Ref Sequence

ENSEMBL: ENSMUSP00000023768 (fasta)

Gene Model

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

AlphaFold

Q3UH60

Predicted Effect

probably damaging
Transcript: ENSMUST00000023768
AA Change: V1302F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023768
Gene: ENSMUSG00000023026
AA Change: V1302F

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

possibly damaging
Transcript: ENSMUST00000100203
AA Change: V1536F

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097777
Gene: ENSMUSG00000023026
AA Change: V1536F

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: V1302F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104599
Gene: ENSMUSG00000023026
AA Change: V1302F

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

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,517,966 (GRCm39)	E781G	probably benign	Het
Abcc8	C	T	7: 45,816,345 (GRCm39)	R265Q	probably benign	Het
Agtr1b	A	T	3: 20,370,027 (GRCm39)	I193N	probably benign	Het
Atp6v1e2	A	G	17: 87,252,362 (GRCm39)	I12T	probably damaging	Het
Cacna1g	T	C	11: 94,347,818 (GRCm39)	T757A	probably damaging	Het
Cldn15	A	G	5: 137,003,685 (GRCm39)	K200R	probably benign	Het
Dnajb6	T	A	5: 29,957,421 (GRCm39)	Y68N	probably damaging	Het
Dok1	T	A	6: 83,009,315 (GRCm39)	E179V	probably damaging	Het
Epha4	T	C	1: 77,403,482 (GRCm39)	T342A	probably damaging	Het
Etf1	A	T	18: 35,064,690 (GRCm39)	S6R	possibly damaging	Het
Fryl	T	C	5: 73,250,506 (GRCm39)	I987V	probably benign	Het
Gba2	C	T	4: 43,567,257 (GRCm39)	G897S	probably benign	Het
Habp2	G	T	19: 56,298,570 (GRCm39)		probably null	Het
Hapln1	G	T	13: 89,753,578 (GRCm39)	S248I	possibly damaging	Het
Hydin	A	G	8: 111,137,198 (GRCm39)	D667G	probably damaging	Het
Kcnma1	T	A	14: 23,359,222 (GRCm39)	H1074L	probably damaging	Het
Kctd9	T	C	14: 67,962,130 (GRCm39)		probably null	Het
L3mbtl4	A	G	17: 68,793,914 (GRCm39)	D306G	probably damaging	Het
Lgalsl	T	C	11: 20,780,090 (GRCm39)	R49G	probably damaging	Het
Lpo	C	T	11: 87,708,599 (GRCm39)	S133N	probably benign	Het
Lrp8	A	T	4: 107,660,516 (GRCm39)	R59*	probably null	Het
Mctp1	T	C	13: 76,971,188 (GRCm39)	F629S	probably damaging	Het
Med1	A	G	11: 98,047,533 (GRCm39)		probably benign	Het
Nbea	T	C	3: 55,944,699 (GRCm39)	H555R	probably damaging	Het
Nedd1	T	C	10: 92,522,147 (GRCm39)	H630R	possibly damaging	Het
Nr3c2	A	T	8: 77,635,045 (GRCm39)		probably null	Het
Nubp2	A	T	17: 25,102,171 (GRCm39)	V267E	probably benign	Het
Oacyl	A	T	18: 65,882,792 (GRCm39)	Y629F	probably damaging	Het
Or1n1b	A	G	2: 36,780,731 (GRCm39)	I43T	probably damaging	Het
Or1x2	T	A	11: 50,918,091 (GRCm39)	H87Q	probably damaging	Het
Or5b119	A	T	19: 13,457,462 (GRCm39)	Y33*	probably null	Het
Pknox2	T	C	9: 36,847,675 (GRCm39)	H114R	probably benign	Het
Ppp2r1b	A	G	9: 50,790,134 (GRCm39)	D564G	possibly damaging	Het
Ppp3ca	T	G	3: 136,611,079 (GRCm39)	N367K	possibly damaging	Het
Ptprn2	T	C	12: 116,852,518 (GRCm39)	V525A	probably damaging	Het
Reps1	T	G	10: 17,998,763 (GRCm39)		probably benign	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Sipa1l1	A	G	12: 82,444,207 (GRCm39)	I973V	possibly damaging	Het
Ssh2	T	A	11: 77,344,232 (GRCm39)	V739D	possibly damaging	Het
Tbc1d24	A	G	17: 24,404,395 (GRCm39)	F250L	probably benign	Het
Ube3a	T	A	7: 58,921,881 (GRCm39)	H84Q	possibly damaging	Het
Usp34	T	C	11: 23,338,659 (GRCm39)		probably benign	Het
Zdhhc8	G	T	16: 18,042,758 (GRCm39)	L481I	probably damaging	Het
Zfp574	A	G	7: 24,780,790 (GRCm39)	H604R	probably damaging	Het
Zfp945	A	T	17: 23,076,256 (GRCm39)	M63K	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
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
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

2015-04-16