Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01306:Dip2c'

73436

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dip2c

Ensembl Gene

ENSMUSG00000048264

Gene Name

disco interacting protein 2 homolog C

Synonyms

2900024P20Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.711) question?

Stock #

IGL01306

Quality Score

Status

Chromosome

Chromosomal Location

9276528-9668928 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9575143 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 558 (N558D)

Ref Sequence

ENSEMBL: ENSMUSP00000133806 (fasta)

Gene Model

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

AlphaFold

E9PWR4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166299
AA Change: N558D

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000126827
Gene: ENSMUSG00000048264
AA Change: N558D

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 benign
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

possibly damaging
Transcript: ENSMUST00000174552
AA Change: N558D

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133806
Gene: ENSMUSG00000048264
AA Change: N558D

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

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 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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	G	A	12: 70,169,048 (GRCm38)	G88S	probably damaging	Het
Acot10	A	G	15: 20,665,965 (GRCm38)	F230S	probably benign	Het
Ago4	T	C	4: 126,515,884 (GRCm38)		probably null	Het
Akap12	G	T	10: 4,353,273 (GRCm38)	A28S	probably benign	Het
Anks1	C	A	17: 27,986,253 (GRCm38)	T262K	probably damaging	Het
Arfgap3	A	G	15: 83,313,509 (GRCm38)	Y349H	possibly damaging	Het
Bltp1	T	C	3: 37,005,013 (GRCm38)		probably benign	Het
Camsap2	T	A	1: 136,297,790 (GRCm38)	E199D	probably benign	Het
Ccdc13	A	T	9: 121,827,363 (GRCm38)	M128K	probably benign	Het
Ccdc38	T	C	10: 93,569,935 (GRCm38)		probably null	Het
Cep95	G	A	11: 106,813,815 (GRCm38)	V499I	probably benign	Het
Cpne6	A	T	14: 55,515,249 (GRCm38)	I299F	probably damaging	Het
Cse1l	T	A	2: 166,927,508 (GRCm38)	Y278*	probably null	Het
Edar	A	T	10: 58,628,638 (GRCm38)	C60S	probably damaging	Het
Fat2	T	C	11: 55,310,872 (GRCm38)	N459D	probably benign	Het
Fbxw8	C	T	5: 118,113,720 (GRCm38)	V243M	possibly damaging	Het
Fem1b	G	A	9: 62,797,528 (GRCm38)	A150V	possibly damaging	Het
Gal3st1	A	G	11: 3,998,405 (GRCm38)	Y204C	probably damaging	Het
Gm5422	A	T	10: 31,249,436 (GRCm38)		noncoding transcript	Het
Grin2c	T	C	11: 115,256,194 (GRCm38)	T392A	probably benign	Het
Itpk1	T	C	12: 102,606,103 (GRCm38)	E117G	probably damaging	Het
Kif12	G	T	4: 63,165,884 (GRCm38)	P627Q	probably damaging	Het
Krtap15-1	T	A	16: 88,829,367 (GRCm38)	F88L	probably benign	Het
Mlh1	T	C	9: 111,252,912 (GRCm38)	N248D	possibly damaging	Het
Or2i1	T	C	17: 37,196,942 (GRCm38)	N342S	probably benign	Het
Or4k15	A	G	14: 50,126,582 (GRCm38)	N2D	probably benign	Het
Or52z12	T	C	7: 103,584,693 (GRCm38)	Y224H	probably damaging	Het
Per2	T	C	1: 91,448,833 (GRCm38)	H106R	probably damaging	Het
Pfkl	T	A	10: 77,991,395 (GRCm38)	T486S	probably benign	Het
Prkdc	T	C	16: 15,667,731 (GRCm38)	V474A	possibly damaging	Het
Scamp4	C	A	10: 80,609,422 (GRCm38)	Q34K	probably damaging	Het
Serpinb3b	A	G	1: 107,154,665 (GRCm38)	Y290H	probably damaging	Het
Sft2d2	G	T	1: 165,183,995 (GRCm38)	A110E	probably benign	Het
Siglecf	T	A	7: 43,351,953 (GRCm38)	L115*	probably null	Het
Slc6a11	C	T	6: 114,134,665 (GRCm38)	T103M	probably damaging	Het
Slco1a1	T	A	6: 141,946,587 (GRCm38)	K18*	probably null	Het
Spata1	A	T	3: 146,487,399 (GRCm38)	Y112*	probably null	Het
Tbc1d32	G	A	10: 56,180,524 (GRCm38)	T440I	probably benign	Het
Vmn2r111	T	A	17: 22,568,984 (GRCm38)	E462V	probably damaging	Het
Wnt16	C	T	6: 22,297,935 (GRCm38)	R267C	probably damaging	Het
Xylt1	A	C	7: 117,548,890 (GRCm38)	S230R	probably benign	Het

Other mutations in Dip2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Dip2c	APN	13	9,493,108 (GRCm38)	missense	probably damaging	0.97
IGL00426:Dip2c	APN	13	9,606,515 (GRCm38)	missense	probably damaging	1.00
IGL00503:Dip2c	APN	13	9,567,898 (GRCm38)	missense	probably damaging	1.00
IGL00586:Dip2c	APN	13	9,610,755 (GRCm38)	missense	probably damaging	1.00
IGL01580:Dip2c	APN	13	9,637,088 (GRCm38)	splice site	probably null
IGL01985:Dip2c	APN	13	9,553,267 (GRCm38)	splice site	probably benign
IGL02060:Dip2c	APN	13	9,622,630 (GRCm38)	missense	probably damaging	0.98
IGL02122:Dip2c	APN	13	9,506,659 (GRCm38)	missense	possibly damaging	0.48
IGL02170:Dip2c	APN	13	9,606,335 (GRCm38)	missense	probably benign	0.03
IGL02211:Dip2c	APN	13	9,610,847 (GRCm38)	missense	probably damaging	1.00
IGL02755:Dip2c	APN	13	9,550,320 (GRCm38)	critical splice donor site	probably null
IGL02836:Dip2c	APN	13	9,610,790 (GRCm38)	missense	probably damaging	0.98
IGL02935:Dip2c	APN	13	9,662,146 (GRCm38)	missense	probably damaging	1.00
IGL03032:Dip2c	APN	13	9,551,778 (GRCm38)	missense	probably damaging	1.00
ANU23:Dip2c	UTSW	13	9,575,143 (GRCm38)	missense	possibly damaging	0.72
P0038:Dip2c	UTSW	13	9,646,982 (GRCm38)	missense	probably damaging	1.00
R0009:Dip2c	UTSW	13	9,621,903 (GRCm38)	missense	probably damaging	1.00
R0268:Dip2c	UTSW	13	9,637,150 (GRCm38)	missense	probably damaging	1.00
R0271:Dip2c	UTSW	13	9,615,775 (GRCm38)	missense	probably damaging	1.00
R0306:Dip2c	UTSW	13	9,604,599 (GRCm38)	missense	probably benign	0.09
R0415:Dip2c	UTSW	13	9,568,289 (GRCm38)	splice site	probably benign
R0519:Dip2c	UTSW	13	9,563,208 (GRCm38)	missense	probably damaging	1.00
R0557:Dip2c	UTSW	13	9,553,459 (GRCm38)	missense	possibly damaging	0.81
R0964:Dip2c	UTSW	13	9,568,663 (GRCm38)	missense	probably benign	0.43
R0973:Dip2c	UTSW	13	9,576,908 (GRCm38)	missense	probably damaging	0.99
R0973:Dip2c	UTSW	13	9,576,908 (GRCm38)	missense	probably damaging	0.99
R0974:Dip2c	UTSW	13	9,576,908 (GRCm38)	missense	probably damaging	0.99
R1101:Dip2c	UTSW	13	9,634,744 (GRCm38)	missense	probably damaging	1.00
R1171:Dip2c	UTSW	13	9,493,126 (GRCm38)	missense	possibly damaging	0.89
R1403:Dip2c	UTSW	13	9,553,264 (GRCm38)	splice site	probably null
R1403:Dip2c	UTSW	13	9,553,264 (GRCm38)	splice site	probably null
R1432:Dip2c	UTSW	13	9,553,304 (GRCm38)	missense	probably damaging	0.99
R1481:Dip2c	UTSW	13	9,551,866 (GRCm38)	critical splice donor site	probably null
R1588:Dip2c	UTSW	13	9,665,864 (GRCm38)	missense	probably damaging	1.00
R1721:Dip2c	UTSW	13	9,659,368 (GRCm38)	missense	probably damaging	1.00
R1726:Dip2c	UTSW	13	9,575,428 (GRCm38)	missense	probably damaging	1.00
R1867:Dip2c	UTSW	13	9,621,949 (GRCm38)	missense	possibly damaging	0.55
R1909:Dip2c	UTSW	13	9,533,350 (GRCm38)	missense	probably benign	0.00
R2013:Dip2c	UTSW	13	9,567,846 (GRCm38)	nonsense	probably null
R2022:Dip2c	UTSW	13	9,551,800 (GRCm38)	missense	probably damaging	1.00
R2517:Dip2c	UTSW	13	9,609,005 (GRCm38)	missense	probably damaging	1.00
R3746:Dip2c	UTSW	13	9,601,473 (GRCm38)	missense	probably damaging	1.00
R3794:Dip2c	UTSW	13	9,604,561 (GRCm38)	missense	probably damaging	0.99
R3884:Dip2c	UTSW	13	9,551,858 (GRCm38)	missense	probably damaging	1.00
R4019:Dip2c	UTSW	13	9,614,365 (GRCm38)	missense	probably damaging	0.99
R4110:Dip2c	UTSW	13	9,637,101 (GRCm38)	missense	probably damaging	1.00
R4111:Dip2c	UTSW	13	9,637,101 (GRCm38)	missense	probably damaging	1.00
R4113:Dip2c	UTSW	13	9,637,101 (GRCm38)	missense	probably damaging	1.00
R4256:Dip2c	UTSW	13	9,609,056 (GRCm38)	missense	probably damaging	1.00
R4300:Dip2c	UTSW	13	9,610,711 (GRCm38)	missense	probably damaging	1.00
R4494:Dip2c	UTSW	13	9,571,062 (GRCm38)	missense	possibly damaging	0.64
R4739:Dip2c	UTSW	13	9,533,339 (GRCm38)	missense	probably damaging	0.98
R4812:Dip2c	UTSW	13	9,637,130 (GRCm38)	nonsense	probably null
R4814:Dip2c	UTSW	13	9,536,860 (GRCm38)	missense	probably benign	0.07
R4816:Dip2c	UTSW	13	9,575,150 (GRCm38)	missense	probably benign	0.37
R4828:Dip2c	UTSW	13	9,560,679 (GRCm38)	missense	probably damaging	1.00
R4915:Dip2c	UTSW	13	9,621,869 (GRCm38)	splice site	probably null
R4917:Dip2c	UTSW	13	9,621,869 (GRCm38)	splice site	probably null
R4932:Dip2c	UTSW	13	9,623,972 (GRCm38)	missense	probably damaging	0.99
R4993:Dip2c	UTSW	13	9,575,223 (GRCm38)	nonsense	probably null
R5043:Dip2c	UTSW	13	9,551,827 (GRCm38)	missense	possibly damaging	0.80
R5349:Dip2c	UTSW	13	9,622,653 (GRCm38)	missense	probably damaging	1.00
R5744:Dip2c	UTSW	13	9,568,405 (GRCm38)	missense	probably damaging	1.00
R5840:Dip2c	UTSW	13	9,506,676 (GRCm38)	missense	possibly damaging	0.68
R6110:Dip2c	UTSW	13	9,623,766 (GRCm38)	missense	probably damaging	1.00
R6160:Dip2c	UTSW	13	9,533,254 (GRCm38)	missense	probably benign	0.01
R6161:Dip2c	UTSW	13	9,647,007 (GRCm38)	missense	probably damaging	1.00
R6477:Dip2c	UTSW	13	9,623,760 (GRCm38)	missense	probably damaging	1.00
R6522:Dip2c	UTSW	13	9,575,228 (GRCm38)	critical splice donor site	probably null
R6603:Dip2c	UTSW	13	9,654,588 (GRCm38)	splice site	probably null
R6658:Dip2c	UTSW	13	9,493,177 (GRCm38)	critical splice donor site	probably null
R6672:Dip2c	UTSW	13	9,567,830 (GRCm38)	critical splice acceptor site	probably null
R6697:Dip2c	UTSW	13	9,621,913 (GRCm38)	missense	probably damaging	1.00
R6991:Dip2c	UTSW	13	9,634,832 (GRCm38)	missense	probably damaging	1.00
R6991:Dip2c	UTSW	13	9,551,860 (GRCm38)	nonsense	probably null
R7018:Dip2c	UTSW	13	9,659,278 (GRCm38)	missense	probably damaging	1.00
R7053:Dip2c	UTSW	13	9,610,704 (GRCm38)	missense	probably damaging	1.00
R7102:Dip2c	UTSW	13	9,604,536 (GRCm38)	missense	probably benign	0.01
R7171:Dip2c	UTSW	13	9,506,648 (GRCm38)	missense	probably benign	0.34
R7371:Dip2c	UTSW	13	9,592,749 (GRCm38)	missense	probably benign	0.02
R7395:Dip2c	UTSW	13	9,614,377 (GRCm38)	missense	probably damaging	1.00
R7489:Dip2c	UTSW	13	9,533,312 (GRCm38)	missense	probably damaging	0.99
R7575:Dip2c	UTSW	13	9,628,012 (GRCm38)	missense	probably damaging	0.97
R7642:Dip2c	UTSW	13	9,622,705 (GRCm38)	critical splice donor site	probably null
R7687:Dip2c	UTSW	13	9,604,581 (GRCm38)	missense	probably benign	0.00
R7699:Dip2c	UTSW	13	9,659,311 (GRCm38)	missense	probably benign	0.00
R7700:Dip2c	UTSW	13	9,659,311 (GRCm38)	missense	probably benign	0.00
R7715:Dip2c	UTSW	13	9,614,391 (GRCm38)	missense	probably damaging	1.00
R7842:Dip2c	UTSW	13	9,606,533 (GRCm38)	critical splice donor site	probably null
R7845:Dip2c	UTSW	13	9,609,044 (GRCm38)	missense	probably damaging	1.00
R8354:Dip2c	UTSW	13	9,621,882 (GRCm38)	missense	probably benign	0.05
R8685:Dip2c	UTSW	13	9,637,125 (GRCm38)	missense	probably benign	0.01
R8779:Dip2c	UTSW	13	9,610,809 (GRCm38)	missense	probably damaging	0.98
R8786:Dip2c	UTSW	13	9,615,794 (GRCm38)	missense	probably damaging	0.99
R8815:Dip2c	UTSW	13	9,623,798 (GRCm38)	nonsense	probably null
R8833:Dip2c	UTSW	13	9,575,483 (GRCm38)	critical splice donor site	probably null
R8868:Dip2c	UTSW	13	9,575,467 (GRCm38)	missense	possibly damaging	0.73
R8873:Dip2c	UTSW	13	9,575,146 (GRCm38)	missense	probably benign	0.03
R8887:Dip2c	UTSW	13	9,623,953 (GRCm38)	splice site	probably benign
R8923:Dip2c	UTSW	13	9,623,865 (GRCm38)	missense	probably damaging	1.00
R9112:Dip2c	UTSW	13	9,610,730 (GRCm38)	missense	probably damaging	1.00
R9424:Dip2c	UTSW	13	9,659,395 (GRCm38)	missense	probably damaging	1.00
R9474:Dip2c	UTSW	13	9,494,927 (GRCm38)	missense	unknown
R9527:Dip2c	UTSW	13	9,494,839 (GRCm38)	missense	unknown
R9593:Dip2c	UTSW	13	9,654,647 (GRCm38)	missense	possibly damaging	0.89
R9615:Dip2c	UTSW	13	9,575,155 (GRCm38)	missense	probably benign	0.03
R9801:Dip2c	UTSW	13	9,576,900 (GRCm38)	missense	probably damaging	1.00

Posted On

2013-10-07