Mutagenetix > Incidental Mutation

Incidental Mutation 'R3794:Dip2c'

272694

Institutional Source

Beutler Lab

Gene Symbol

Dip2c

Ensembl Gene

ENSMUSG00000048264

Gene Name

disco interacting protein 2 homolog C

Synonyms

2900024P20Rik

MMRRC Submission

040756-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.590) question?

Stock #

R3794 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9326564-9718964 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9654597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 706 (V706A)

Ref Sequence

ENSEMBL: ENSMUSP00000131238 (fasta)

Gene Model

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

AlphaFold

E9PWR4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166299
AA Change: V736A

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126827
Gene: ENSMUSG00000048264
AA Change: V736A

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 damaging
Transcript: ENSMUST00000169960
AA Change: V706A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131238
Gene: ENSMUSG00000048264
AA Change: V706A

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: V735A

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133806
Gene: ENSMUSG00000048264
AA Change: V735A

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

Meta Mutation Damage Score

0.2355

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (37/38)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	C	T	15: 98,496,824 (GRCm39)	V482I	probably damaging	Het
Adgrv1	T	A	13: 81,431,486 (GRCm39)	M1L	probably damaging	Het
Ceacam13	A	G	7: 17,747,340 (GRCm39)	*264W	probably null	Het
Dennd5b	A	T	6: 149,002,715 (GRCm39)	D31E	possibly damaging	Het
Enpp3	T	C	10: 24,707,630 (GRCm39)		probably null	Het
Exoc4	T	G	6: 33,452,932 (GRCm39)	V474G	probably benign	Het
F2rl1	A	G	13: 95,649,719 (GRCm39)	Y388H	unknown	Het
Fasl	T	C	1: 161,609,306 (GRCm39)	R17G	probably benign	Het
Htr1a	G	A	13: 105,580,852 (GRCm39)	V31M	possibly damaging	Het
Inpp4b	T	C	8: 82,759,845 (GRCm39)	V445A	probably damaging	Het
Itih3	T	C	14: 30,640,351 (GRCm39)	Y319C	probably damaging	Het
Katnip	A	G	7: 125,419,261 (GRCm39)	N476S	probably benign	Het
Kmt2d	T	C	15: 98,735,240 (GRCm39)		probably benign	Het
Mobp	A	T	9: 119,997,033 (GRCm39)	K55*	probably null	Het
Ndufaf5	T	A	2: 140,044,843 (GRCm39)	M279K	possibly damaging	Het
Nlrc3	T	C	16: 3,765,739 (GRCm39)	I1057V	probably benign	Het
Or10al7	A	G	17: 38,365,786 (GRCm39)	Y224H	probably damaging	Het
Or4c112	G	T	2: 88,853,770 (GRCm39)	H192Q	probably benign	Het
Piezo2	C	T	18: 63,214,864 (GRCm39)	R1257Q	probably damaging	Het
Pigv	A	G	4: 133,392,502 (GRCm39)	S223P	possibly damaging	Het
Pkdcc	A	G	17: 83,531,382 (GRCm39)	T464A	probably damaging	Het
Polr2k	A	G	15: 36,175,193 (GRCm39)	I18V	probably damaging	Het
Pon3	A	G	6: 5,221,578 (GRCm39)	Y351H	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Scaf8	A	G	17: 3,240,524 (GRCm39)	E632G	probably damaging	Het
Smurf1	A	G	5: 144,837,985 (GRCm39)		probably null	Het
Tex16	T	G	X: 111,150,375 (GRCm39)	M1R	probably null	Het
Tln1	G	T	4: 43,536,295 (GRCm39)	A1999D	probably damaging	Het
Trgv5	A	T	13: 19,376,694 (GRCm39)	H47L	probably benign	Het
Ttn	C	T	2: 76,772,781 (GRCm39)	V2405I	possibly damaging	Het
Vps13d	G	A	4: 144,812,007 (GRCm39)		probably benign	Het
Xrcc1	A	G	7: 24,269,985 (GRCm39)	T469A	probably benign	Het
Zfp287	G	T	11: 62,605,070 (GRCm39)	H612Q	probably damaging	Het
Zfp352	C	T	4: 90,113,386 (GRCm39)	H509Y	probably damaging	Het

Other mutations in Dip2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Dip2c	APN	13	9,543,144 (GRCm39)	missense	probably damaging	0.97
IGL00426:Dip2c	APN	13	9,656,551 (GRCm39)	missense	probably damaging	1.00
IGL00503:Dip2c	APN	13	9,617,934 (GRCm39)	missense	probably damaging	1.00
IGL00586:Dip2c	APN	13	9,660,791 (GRCm39)	missense	probably damaging	1.00
IGL01306:Dip2c	APN	13	9,625,179 (GRCm39)	missense	possibly damaging	0.72
IGL01580:Dip2c	APN	13	9,687,124 (GRCm39)	splice site	probably null
IGL01985:Dip2c	APN	13	9,603,303 (GRCm39)	splice site	probably benign
IGL02060:Dip2c	APN	13	9,672,666 (GRCm39)	missense	probably damaging	0.98
IGL02122:Dip2c	APN	13	9,556,695 (GRCm39)	missense	possibly damaging	0.48
IGL02170:Dip2c	APN	13	9,656,371 (GRCm39)	missense	probably benign	0.03
IGL02211:Dip2c	APN	13	9,660,883 (GRCm39)	missense	probably damaging	1.00
IGL02755:Dip2c	APN	13	9,600,356 (GRCm39)	critical splice donor site	probably null
IGL02836:Dip2c	APN	13	9,660,826 (GRCm39)	missense	probably damaging	0.98
IGL02935:Dip2c	APN	13	9,712,182 (GRCm39)	missense	probably damaging	1.00
IGL03032:Dip2c	APN	13	9,601,814 (GRCm39)	missense	probably damaging	1.00
ANU23:Dip2c	UTSW	13	9,625,179 (GRCm39)	missense	possibly damaging	0.72
P0038:Dip2c	UTSW	13	9,697,018 (GRCm39)	missense	probably damaging	1.00
R0009:Dip2c	UTSW	13	9,671,939 (GRCm39)	missense	probably damaging	1.00
R0268:Dip2c	UTSW	13	9,687,186 (GRCm39)	missense	probably damaging	1.00
R0271:Dip2c	UTSW	13	9,665,811 (GRCm39)	missense	probably damaging	1.00
R0306:Dip2c	UTSW	13	9,654,635 (GRCm39)	missense	probably benign	0.09
R0415:Dip2c	UTSW	13	9,618,325 (GRCm39)	splice site	probably benign
R0519:Dip2c	UTSW	13	9,613,244 (GRCm39)	missense	probably damaging	1.00
R0557:Dip2c	UTSW	13	9,603,495 (GRCm39)	missense	possibly damaging	0.81
R0964:Dip2c	UTSW	13	9,618,699 (GRCm39)	missense	probably benign	0.43
R0973:Dip2c	UTSW	13	9,626,944 (GRCm39)	missense	probably damaging	0.99
R0973:Dip2c	UTSW	13	9,626,944 (GRCm39)	missense	probably damaging	0.99
R0974:Dip2c	UTSW	13	9,626,944 (GRCm39)	missense	probably damaging	0.99
R1101:Dip2c	UTSW	13	9,684,780 (GRCm39)	missense	probably damaging	1.00
R1171:Dip2c	UTSW	13	9,543,162 (GRCm39)	missense	possibly damaging	0.89
R1403:Dip2c	UTSW	13	9,603,300 (GRCm39)	splice site	probably null
R1403:Dip2c	UTSW	13	9,603,300 (GRCm39)	splice site	probably null
R1432:Dip2c	UTSW	13	9,603,340 (GRCm39)	missense	probably damaging	0.99
R1481:Dip2c	UTSW	13	9,601,902 (GRCm39)	critical splice donor site	probably null
R1588:Dip2c	UTSW	13	9,715,900 (GRCm39)	missense	probably damaging	1.00
R1721:Dip2c	UTSW	13	9,709,404 (GRCm39)	missense	probably damaging	1.00
R1726:Dip2c	UTSW	13	9,625,464 (GRCm39)	missense	probably damaging	1.00
R1867:Dip2c	UTSW	13	9,671,985 (GRCm39)	missense	possibly damaging	0.55
R1909:Dip2c	UTSW	13	9,583,386 (GRCm39)	missense	probably benign	0.00
R2013:Dip2c	UTSW	13	9,617,882 (GRCm39)	nonsense	probably null
R2022:Dip2c	UTSW	13	9,601,836 (GRCm39)	missense	probably damaging	1.00
R2517:Dip2c	UTSW	13	9,659,041 (GRCm39)	missense	probably damaging	1.00
R3746:Dip2c	UTSW	13	9,651,509 (GRCm39)	missense	probably damaging	1.00
R3884:Dip2c	UTSW	13	9,601,894 (GRCm39)	missense	probably damaging	1.00
R4019:Dip2c	UTSW	13	9,664,401 (GRCm39)	missense	probably damaging	0.99
R4110:Dip2c	UTSW	13	9,687,137 (GRCm39)	missense	probably damaging	1.00
R4111:Dip2c	UTSW	13	9,687,137 (GRCm39)	missense	probably damaging	1.00
R4113:Dip2c	UTSW	13	9,687,137 (GRCm39)	missense	probably damaging	1.00
R4256:Dip2c	UTSW	13	9,659,092 (GRCm39)	missense	probably damaging	1.00
R4300:Dip2c	UTSW	13	9,660,747 (GRCm39)	missense	probably damaging	1.00
R4494:Dip2c	UTSW	13	9,621,098 (GRCm39)	missense	possibly damaging	0.64
R4739:Dip2c	UTSW	13	9,583,375 (GRCm39)	missense	probably damaging	0.98
R4812:Dip2c	UTSW	13	9,687,166 (GRCm39)	nonsense	probably null
R4814:Dip2c	UTSW	13	9,586,896 (GRCm39)	missense	probably benign	0.07
R4816:Dip2c	UTSW	13	9,625,186 (GRCm39)	missense	probably benign	0.37
R4828:Dip2c	UTSW	13	9,610,715 (GRCm39)	missense	probably damaging	1.00
R4915:Dip2c	UTSW	13	9,671,905 (GRCm39)	splice site	probably null
R4917:Dip2c	UTSW	13	9,671,905 (GRCm39)	splice site	probably null
R4932:Dip2c	UTSW	13	9,674,008 (GRCm39)	missense	probably damaging	0.99
R4993:Dip2c	UTSW	13	9,625,259 (GRCm39)	nonsense	probably null
R5043:Dip2c	UTSW	13	9,601,863 (GRCm39)	missense	possibly damaging	0.80
R5349:Dip2c	UTSW	13	9,672,689 (GRCm39)	missense	probably damaging	1.00
R5744:Dip2c	UTSW	13	9,618,441 (GRCm39)	missense	probably damaging	1.00
R5840:Dip2c	UTSW	13	9,556,712 (GRCm39)	missense	possibly damaging	0.68
R6110:Dip2c	UTSW	13	9,673,802 (GRCm39)	missense	probably damaging	1.00
R6160:Dip2c	UTSW	13	9,583,290 (GRCm39)	missense	probably benign	0.01
R6161:Dip2c	UTSW	13	9,697,043 (GRCm39)	missense	probably damaging	1.00
R6477:Dip2c	UTSW	13	9,673,796 (GRCm39)	missense	probably damaging	1.00
R6522:Dip2c	UTSW	13	9,625,264 (GRCm39)	critical splice donor site	probably null
R6603:Dip2c	UTSW	13	9,704,624 (GRCm39)	splice site	probably null
R6658:Dip2c	UTSW	13	9,543,213 (GRCm39)	critical splice donor site	probably null
R6672:Dip2c	UTSW	13	9,617,866 (GRCm39)	critical splice acceptor site	probably null
R6697:Dip2c	UTSW	13	9,671,949 (GRCm39)	missense	probably damaging	1.00
R6991:Dip2c	UTSW	13	9,684,868 (GRCm39)	missense	probably damaging	1.00
R6991:Dip2c	UTSW	13	9,601,896 (GRCm39)	nonsense	probably null
R7018:Dip2c	UTSW	13	9,709,314 (GRCm39)	missense	probably damaging	1.00
R7053:Dip2c	UTSW	13	9,660,740 (GRCm39)	missense	probably damaging	1.00
R7102:Dip2c	UTSW	13	9,654,572 (GRCm39)	missense	probably benign	0.01
R7171:Dip2c	UTSW	13	9,556,684 (GRCm39)	missense	probably benign	0.34
R7371:Dip2c	UTSW	13	9,642,785 (GRCm39)	missense	probably benign	0.02
R7395:Dip2c	UTSW	13	9,664,413 (GRCm39)	missense	probably damaging	1.00
R7489:Dip2c	UTSW	13	9,583,348 (GRCm39)	missense	probably damaging	0.99
R7575:Dip2c	UTSW	13	9,678,048 (GRCm39)	missense	probably damaging	0.97
R7642:Dip2c	UTSW	13	9,672,741 (GRCm39)	critical splice donor site	probably null
R7687:Dip2c	UTSW	13	9,654,617 (GRCm39)	missense	probably benign	0.00
R7699:Dip2c	UTSW	13	9,709,347 (GRCm39)	missense	probably benign	0.00
R7700:Dip2c	UTSW	13	9,709,347 (GRCm39)	missense	probably benign	0.00
R7715:Dip2c	UTSW	13	9,664,427 (GRCm39)	missense	probably damaging	1.00
R7842:Dip2c	UTSW	13	9,656,569 (GRCm39)	critical splice donor site	probably null
R7845:Dip2c	UTSW	13	9,659,080 (GRCm39)	missense	probably damaging	1.00
R8354:Dip2c	UTSW	13	9,671,918 (GRCm39)	missense	probably benign	0.05
R8685:Dip2c	UTSW	13	9,687,161 (GRCm39)	missense	probably benign	0.01
R8779:Dip2c	UTSW	13	9,660,845 (GRCm39)	missense	probably damaging	0.98
R8786:Dip2c	UTSW	13	9,665,830 (GRCm39)	missense	probably damaging	0.99
R8815:Dip2c	UTSW	13	9,673,834 (GRCm39)	nonsense	probably null
R8833:Dip2c	UTSW	13	9,625,519 (GRCm39)	critical splice donor site	probably null
R8868:Dip2c	UTSW	13	9,625,503 (GRCm39)	missense	possibly damaging	0.73
R8873:Dip2c	UTSW	13	9,625,182 (GRCm39)	missense	probably benign	0.03
R8887:Dip2c	UTSW	13	9,673,989 (GRCm39)	splice site	probably benign
R8923:Dip2c	UTSW	13	9,673,901 (GRCm39)	missense	probably damaging	1.00
R9112:Dip2c	UTSW	13	9,660,766 (GRCm39)	missense	probably damaging	1.00
R9424:Dip2c	UTSW	13	9,709,431 (GRCm39)	missense	probably damaging	1.00
R9474:Dip2c	UTSW	13	9,544,963 (GRCm39)	missense	unknown
R9527:Dip2c	UTSW	13	9,544,875 (GRCm39)	missense	unknown
R9593:Dip2c	UTSW	13	9,704,683 (GRCm39)	missense	possibly damaging	0.89
R9615:Dip2c	UTSW	13	9,625,191 (GRCm39)	missense	probably benign	0.03
R9801:Dip2c	UTSW	13	9,626,936 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGCACCTGGACCTTATTGG -3'
(R):5'- ACTCACCTGTCAGCTGATAGC -3'

Sequencing Primer
(F):5'- GGACCTTATTGGAATTTTATTCACGG -3'
(R):5'- GCTGATAGCAATGTACACACAC -3'

Posted On

2015-03-25