Mutagenetix > Incidental Mutations

Incidental Mutation 'R6603:Dip2c'

526400

Institutional Source

Beutler Lab

Gene Symbol

Dip2c

Ensembl Gene

ENSMUSG00000048264

Gene Name

disco interacting protein 2 homolog C

Synonyms

2900024P20Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.783) question?

Stock #

R6603 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

9276528-9668928 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 9654588 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166299] [ENSMUST00000169960] [ENSMUST00000174552]

Predicted Effect

probably null
Transcript: ENSMUST00000166299

SMART Domains

Protein: ENSMUSP00000126827
Gene: ENSMUSG00000048264

Domain	Start	End	E-Value	Type
DMAP_binding	7	120	3.55e-43	SMART
low complexity region	170	187	N/A	INTRINSIC
low complexity region	275	287	N/A	INTRINSIC
Pfam:AMP-binding	324	801	3.6e-23	PFAM
Pfam:AMP-binding	977	1451	1.5e-72	PFAM
low complexity region	1514	1526	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000169960

SMART Domains

Protein: ENSMUSP00000131238
Gene: ENSMUSG00000048264

Domain	Start	End	E-Value	Type
DMAP_binding	7	176	3.02e-37	SMART
low complexity region	226	243	N/A	INTRINSIC
low complexity region	331	343	N/A	INTRINSIC
Pfam:AMP-binding	380	637	5.9e-10	PFAM
SCOP:d1lci__	675	875	2e-8	SMART
Pfam:AMP-binding	947	1421	1.2e-56	PFAM
low complexity region	1484	1496	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000174552

SMART Domains

Protein: ENSMUSP00000133806
Gene: ENSMUSG00000048264

Domain	Start	End	E-Value	Type
DMAP_binding	7	120	3.55e-43	SMART
low complexity region	170	187	N/A	INTRINSIC
low complexity region	275	287	N/A	INTRINSIC
Pfam:AMP-binding	324	800	2.7e-20	PFAM
Pfam:AMP-binding	976	1450	1.3e-56	PFAM
low complexity region	1513	1525	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000222280

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

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 family. The protein shares strong similarity with a Drosophila protein which interacts with the transcription factor disco and is expressed in the nervous system. [provided by RefSeq, Oct 2008]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	A	T	8: 24,665,502	F167Y	possibly damaging	Het
Ap3d1	A	G	10: 80,714,047	S755P	probably benign	Het
Aph1a	A	T	3: 95,895,496	N136I	probably damaging	Het
AU040320	T	A	4: 126,792,253	N207K	probably benign	Het
Caprin1	A	T	2: 103,775,511	D377E	probably benign	Het
Col18a1	A	G	10: 77,063,977		probably null	Het
Ddi2	T	C	4: 141,683,870	N577S	probably damaging	Het
Dmbt1	A	T	7: 131,046,510		probably null	Het
Fam13a	T	C	6: 58,987,189	K86R	probably benign	Het
Fam168b	C	A	1: 34,836,741	G21V	probably damaging	Het
Fam208a	A	G	14: 27,446,386	Y295C	probably damaging	Het
Fam71e2	G	A	7: 4,758,432	P427L	possibly damaging	Het
Fbxl8	A	T	8: 105,268,210	D118V	probably damaging	Het
Git2	C	A	5: 114,730,991		probably null	Het
Gm17190	T	G	13: 96,082,262	D35E	possibly damaging	Het
Gnb4	C	T	3: 32,585,146	D333N	probably damaging	Het
Has2	T	A	15: 56,668,572	D249V	probably damaging	Het
Ighv1-23	A	G	12: 114,764,521	S94P	probably damaging	Het
Itpr2	A	G	6: 146,347,171	I1029T	probably damaging	Het
Kctd16	T	C	18: 40,258,491	I44T	probably benign	Het
Kpna1	A	G	16: 36,029,520		probably null	Het
Lonrf1	T	A	8: 36,222,941	R654S	probably damaging	Het
Lrrc49	A	C	9: 60,593,769		probably null	Het
Miip	T	G	4: 147,865,923	K72T	possibly damaging	Het
Mink1	C	T	11: 70,609,593	P782S	probably damaging	Het
Mpped2	A	G	2: 106,866,977	T266A	probably benign	Het
Naip1	G	A	13: 100,423,070	S1142F	probably benign	Het
Naip1	C	T	13: 100,423,158	G1113S	probably benign	Het
Nbr1	A	G	11: 101,556,105		probably benign	Het
Necab3	A	T	2: 154,554,922	N46K	probably damaging	Het
Olfr570	A	T	7: 102,900,414	I16F	probably benign	Het
Phtf1	C	T	3: 103,993,873	R360C	probably damaging	Het
Plcl2	A	G	17: 50,607,117	I385V	probably benign	Het
Prmt8	A	T	6: 127,729,413	F138L	probably benign	Het
Prpf40a	T	G	2: 53,152,963	R436S	probably damaging	Het
Rab27b	T	A	18: 69,985,304	I181F	probably damaging	Het
Rasgrf1	A	G	9: 89,910,257	E87G	probably damaging	Het
Scrib	T	A	15: 76,062,723	T674S	probably benign	Het
Slc9a4	A	G	1: 40,623,504	S644G	probably benign	Het
Slc9a9	G	A	9: 94,939,546	A329T	probably damaging	Het
Smc4	T	C	3: 69,022,461		probably null	Het
Sox7	T	A	14: 63,948,188	H224Q	probably benign	Het
Spata31	T	C	13: 64,922,665	S876P	probably damaging	Het
Syndig1	G	A	2: 150,003,288	V244M	probably damaging	Het
Tas2r113	A	T	6: 132,893,458	I150L	probably benign	Het
Tmem59l	G	A	8: 70,486,356	P56L	probably benign	Het
Tnfrsf8	A	T	4: 145,292,598	D222E	possibly damaging	Het
Trim52	T	C	14: 106,107,049	L47P	probably damaging	Het
Ttc34	T	A	4: 154,839,305	I157K	probably benign	Het
Txndc16	A	G	14: 45,151,767	F492S	probably damaging	Het
Ubr4	A	G	4: 139,455,586	I428V	probably benign	Het
Vmn2r41	T	A	7: 8,138,360	I702F	probably damaging	Het
Wdr12	T	A	1: 60,082,624	H256L	probably damaging	Het
Xirp2	A	G	2: 67,516,544	H3043R	probably benign	Het
Xrcc1	C	T	7: 24,571,034	Q500*	probably null	Het
Zfp583	T	C	7: 6,325,476	N38S	probably damaging	Het

Other mutations in Dip2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Dip2c	APN	13	9493108	missense	probably damaging	0.97
IGL00426:Dip2c	APN	13	9606515	missense	probably damaging	1.00
IGL00503:Dip2c	APN	13	9567898	missense	probably damaging	1.00
IGL00586:Dip2c	APN	13	9610755	missense	probably damaging	1.00
IGL01306:Dip2c	APN	13	9575143	missense	possibly damaging	0.72
IGL01580:Dip2c	APN	13	9637088	splice site	probably null
IGL01985:Dip2c	APN	13	9553267	splice site	probably benign
IGL02060:Dip2c	APN	13	9622630	missense	probably damaging	0.98
IGL02122:Dip2c	APN	13	9506659	missense	possibly damaging	0.48
IGL02170:Dip2c	APN	13	9606335	missense	probably benign	0.03
IGL02211:Dip2c	APN	13	9610847	missense	probably damaging	1.00
IGL02755:Dip2c	APN	13	9550320	critical splice donor site	probably null
IGL02836:Dip2c	APN	13	9610790	missense	probably damaging	0.98
IGL02935:Dip2c	APN	13	9662146	missense	probably damaging	1.00
IGL03032:Dip2c	APN	13	9551778	missense	probably damaging	1.00
ANU23:Dip2c	UTSW	13	9575143	missense	possibly damaging	0.72
P0038:Dip2c	UTSW	13	9646982	missense	probably damaging	1.00
R0009:Dip2c	UTSW	13	9621903	missense	probably damaging	1.00
R0268:Dip2c	UTSW	13	9637150	missense	probably damaging	1.00
R0271:Dip2c	UTSW	13	9615775	missense	probably damaging	1.00
R0306:Dip2c	UTSW	13	9604599	missense	probably benign	0.09
R0415:Dip2c	UTSW	13	9568289	splice site	probably benign
R0519:Dip2c	UTSW	13	9563208	missense	probably damaging	1.00
R0557:Dip2c	UTSW	13	9553459	missense	possibly damaging	0.81
R0964:Dip2c	UTSW	13	9568663	missense	probably benign	0.43
R0973:Dip2c	UTSW	13	9576908	missense	probably damaging	0.99
R0973:Dip2c	UTSW	13	9576908	missense	probably damaging	0.99
R0974:Dip2c	UTSW	13	9576908	missense	probably damaging	0.99
R1101:Dip2c	UTSW	13	9634744	missense	probably damaging	1.00
R1171:Dip2c	UTSW	13	9493126	missense	possibly damaging	0.89
R1403:Dip2c	UTSW	13	9553264	splice site	probably null
R1403:Dip2c	UTSW	13	9553264	splice site	probably null
R1432:Dip2c	UTSW	13	9553304	missense	probably damaging	0.99
R1481:Dip2c	UTSW	13	9551866	critical splice donor site	probably null
R1588:Dip2c	UTSW	13	9665864	missense	probably damaging	1.00
R1721:Dip2c	UTSW	13	9659368	missense	probably damaging	1.00
R1726:Dip2c	UTSW	13	9575428	missense	probably damaging	1.00
R1867:Dip2c	UTSW	13	9621949	missense	possibly damaging	0.55
R1909:Dip2c	UTSW	13	9533350	missense	probably benign	0.00
R2013:Dip2c	UTSW	13	9567846	nonsense	probably null
R2022:Dip2c	UTSW	13	9551800	missense	probably damaging	1.00
R2517:Dip2c	UTSW	13	9609005	missense	probably damaging	1.00
R3746:Dip2c	UTSW	13	9601473	missense	probably damaging	1.00
R3794:Dip2c	UTSW	13	9604561	missense	probably damaging	0.99
R3884:Dip2c	UTSW	13	9551858	missense	probably damaging	1.00
R4019:Dip2c	UTSW	13	9614365	missense	probably damaging	0.99
R4110:Dip2c	UTSW	13	9637101	missense	probably damaging	1.00
R4111:Dip2c	UTSW	13	9637101	missense	probably damaging	1.00
R4113:Dip2c	UTSW	13	9637101	missense	probably damaging	1.00
R4256:Dip2c	UTSW	13	9609056	missense	probably damaging	1.00
R4300:Dip2c	UTSW	13	9610711	missense	probably damaging	1.00
R4494:Dip2c	UTSW	13	9571062	missense	possibly damaging	0.64
R4739:Dip2c	UTSW	13	9533339	missense	probably damaging	0.98
R4812:Dip2c	UTSW	13	9637130	nonsense	probably null
R4814:Dip2c	UTSW	13	9536860	missense	probably benign	0.07
R4816:Dip2c	UTSW	13	9575150	missense	probably benign	0.37
R4828:Dip2c	UTSW	13	9560679	missense	probably damaging	1.00
R4915:Dip2c	UTSW	13	9621869	splice site	probably null
R4917:Dip2c	UTSW	13	9621869	splice site	probably null
R4932:Dip2c	UTSW	13	9623972	missense	probably damaging	0.99
R4993:Dip2c	UTSW	13	9575223	nonsense	probably null
R5043:Dip2c	UTSW	13	9551827	missense	possibly damaging	0.80
R5349:Dip2c	UTSW	13	9622653	missense	probably damaging	1.00
R5744:Dip2c	UTSW	13	9568405	missense	probably damaging	1.00
R5840:Dip2c	UTSW	13	9506676	missense	possibly damaging	0.68
R6110:Dip2c	UTSW	13	9623766	missense	probably damaging	1.00
R6160:Dip2c	UTSW	13	9533254	missense	probably benign	0.01
R6161:Dip2c	UTSW	13	9647007	missense	probably damaging	1.00
R6477:Dip2c	UTSW	13	9623760	missense	probably damaging	1.00
R6522:Dip2c	UTSW	13	9575228	critical splice donor site	probably null
R6658:Dip2c	UTSW	13	9493177	critical splice donor site	probably null
R6672:Dip2c	UTSW	13	9567830	critical splice acceptor site	probably null
R6697:Dip2c	UTSW	13	9621913	missense	probably damaging	1.00
R6991:Dip2c	UTSW	13	9551860	nonsense	probably null
R6991:Dip2c	UTSW	13	9634832	missense	probably damaging	1.00
R7018:Dip2c	UTSW	13	9659278	missense	probably damaging	1.00
R7053:Dip2c	UTSW	13	9610704	missense	probably damaging	1.00
R7102:Dip2c	UTSW	13	9604536	missense	probably benign	0.01
R7171:Dip2c	UTSW	13	9506648	missense	probably benign	0.34
R7371:Dip2c	UTSW	13	9592749	missense	probably benign	0.02
R7395:Dip2c	UTSW	13	9614377	missense	probably damaging	1.00
R7489:Dip2c	UTSW	13	9533312	missense	probably damaging	0.99
R7575:Dip2c	UTSW	13	9628012	missense	probably damaging	0.97
R7642:Dip2c	UTSW	13	9622705	critical splice donor site	probably null
R7687:Dip2c	UTSW	13	9604581	missense	probably benign	0.00
R7699:Dip2c	UTSW	13	9659311	missense	probably benign	0.00
R7700:Dip2c	UTSW	13	9659311	missense	probably benign	0.00
R7715:Dip2c	UTSW	13	9614391	missense	probably damaging	1.00
R7842:Dip2c	UTSW	13	9606533	critical splice donor site	probably null
R7845:Dip2c	UTSW	13	9609044	missense	probably damaging	1.00
R8354:Dip2c	UTSW	13	9621882	missense	probably benign	0.05
R8685:Dip2c	UTSW	13	9637125	missense	probably benign	0.01

Predicted Primers

Posted On

2018-06-25