Mutagenetix > Incidental Mutation

Incidental Mutation 'R6991:Dip2c'

543862

Institutional Source

Beutler Lab

Gene Symbol

Dip2c

Ensembl Gene

ENSMUSG00000048264

Gene Name

disco interacting protein 2 homolog C

Synonyms

2900024P20Rik

MMRRC Submission

045097-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.590) question?

Stock #

R6991 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

9326564-9718964 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 9601896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 285 (L285*)

Ref Sequence

ENSEMBL: ENSMUSP00000133806 (fasta)

Gene Model

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

AlphaFold

E9PWR4

Predicted Effect

probably null
Transcript: ENSMUST00000166299
AA Change: L285*

SMART Domains

Protein: ENSMUSP00000126827
Gene: ENSMUSG00000048264
AA Change: L285*

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
AA Change: L341*

SMART Domains

Protein: ENSMUSP00000131238
Gene: ENSMUSG00000048264
AA Change: L341*

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
AA Change: L285*

SMART Domains

Protein: ENSMUSP00000133806
Gene: ENSMUSG00000048264
AA Change: L285*

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	A	7: 27,279,871 (GRCm39)	V278D	probably damaging	Het
Akap12	G	T	10: 4,307,122 (GRCm39)	E1311*	probably null	Het
Ankdd1a	T	A	9: 65,415,957 (GRCm39)	D186V	probably benign	Het
Birc6	A	G	17: 74,869,090 (GRCm39)	E346G	probably damaging	Het
Brd10	A	G	19: 29,696,508 (GRCm39)	L995S	possibly damaging	Het
Ccr7	A	C	11: 99,036,130 (GRCm39)	V264G	probably damaging	Het
Col7a1	T	C	9: 108,812,987 (GRCm39)		probably null	Het
Coq8a	T	C	1: 180,006,633 (GRCm39)	T132A	probably benign	Het
Cplane1	A	G	15: 8,281,690 (GRCm39)	E2843G	unknown	Het
Cyp2b10	G	A	7: 25,616,780 (GRCm39)	S407N	probably benign	Het
Ddi2	A	G	4: 141,412,561 (GRCm39)	V117A	probably benign	Het
Ddx42	G	A	11: 106,129,970 (GRCm39)	V421I	probably damaging	Het
Dner	T	A	1: 84,454,123 (GRCm39)	R402*	probably null	Het
Dpysl3	A	T	18: 43,486,956 (GRCm39)	I317N	probably damaging	Het
Dusp23	T	A	1: 172,459,224 (GRCm39)	Y146F	probably benign	Het
Eef1a2	C	A	2: 180,790,421 (GRCm39)	V412L	possibly damaging	Het
Epha7	C	T	4: 28,821,489 (GRCm39)	T218I	probably damaging	Het
Gigyf2	T	A	1: 87,334,858 (GRCm39)	C284S	probably damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,797,390 (GRCm39)		probably benign	Het
Hao2	T	A	3: 98,784,068 (GRCm39)	E327V	probably damaging	Het
Hdhd5	A	G	6: 120,487,130 (GRCm39)	V409A	probably damaging	Het
Kif9	T	C	9: 110,323,690 (GRCm39)	Y236H	probably damaging	Het
Kri1	T	C	9: 21,199,050 (GRCm39)		probably benign	Het
Lig4	A	T	8: 10,021,098 (GRCm39)	V894E	probably damaging	Het
Lrriq1	T	C	10: 103,023,319 (GRCm39)	N982S	probably damaging	Het
Mapk8	T	C	14: 33,132,841 (GRCm39)	I32V	possibly damaging	Het
Mast4	C	T	13: 102,941,155 (GRCm39)	V301I	probably damaging	Het
Mstn	T	C	1: 53,101,100 (GRCm39)	I59T	probably benign	Het
Mtrf1l	T	C	10: 5,763,384 (GRCm39)	E315G	probably damaging	Het
Notch4	G	T	17: 34,803,774 (GRCm39)	E1515*	probably null	Het
Npw	A	C	17: 24,877,029 (GRCm39)	V124G	probably benign	Het
Nxph3	A	G	11: 95,402,244 (GRCm39)	S57P	probably damaging	Het
Opn4	A	T	14: 34,315,864 (GRCm39)	L390M	probably benign	Het
Or12e10	G	A	2: 87,640,787 (GRCm39)	D208N	possibly damaging	Het
Or52e4	T	C	7: 104,705,771 (GRCm39)	I106T	probably damaging	Het
Or5b95	G	T	19: 12,658,112 (GRCm39)	L213F	probably benign	Het
Or5g23	T	C	2: 85,438,592 (GRCm39)	I221V	possibly damaging	Het
Or5p68	T	A	7: 107,945,295 (GRCm39)	N298Y	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pla2g2e	G	A	4: 138,607,986 (GRCm39)	C62Y	probably damaging	Het
Plcb4	G	A	2: 135,752,114 (GRCm39)	V107M	probably damaging	Het
Pramel33	T	A	5: 93,632,233 (GRCm39)	N107I	probably damaging	Het
Prorsd1	A	C	11: 29,464,486 (GRCm39)		probably benign	Het
Prox2	A	G	12: 85,134,165 (GRCm39)	L587P	probably benign	Het
Prr22	A	G	17: 57,078,345 (GRCm39)	D166G	possibly damaging	Het
Ptprz1	G	A	6: 23,002,686 (GRCm39)	R1592Q	probably benign	Het
Rarg	C	G	15: 102,150,350 (GRCm39)	R74P	probably damaging	Het
Rcan1	A	G	16: 92,194,251 (GRCm39)	V54A	probably benign	Het
Rmdn2	A	G	17: 79,928,739 (GRCm39)		probably benign	Het
Sec16a	G	A	2: 26,320,498 (GRCm39)	R1361C	probably damaging	Het
Serpina1a	T	C	12: 103,820,092 (GRCm39)	T385A	probably benign	Het
Slc44a3	T	C	3: 121,325,814 (GRCm39)	Y12C	probably benign	Het
Smg1	C	A	7: 117,767,091 (GRCm39)		probably benign	Het
Spock3	A	G	8: 63,808,415 (GRCm39)	*437W	probably null	Het
Sugct	T	A	13: 17,728,965 (GRCm39)	Q220H	probably benign	Het
Tesk1	A	G	4: 43,447,006 (GRCm39)	T465A	probably benign	Het
Tnks	C	A	8: 35,301,647 (GRCm39)	R1274I	probably damaging	Het
Trp53bp1	C	T	2: 121,038,521 (GRCm39)	R1439H	probably damaging	Het
Vmn1r16	G	T	6: 57,299,869 (GRCm39)	S251*	probably null	Het
Vmn2r15	T	A	5: 109,441,180 (GRCm39)	Q226L	probably damaging	Het
Vmn2r67	T	G	7: 84,804,953 (GRCm39)	Y53S	possibly damaging	Het
Vmn2r99	A	G	17: 19,598,372 (GRCm39)	N132S	probably benign	Het
Wdr73	T	G	7: 80,541,604 (GRCm39)	T313P	probably benign	Het
Zfp65	C	T	13: 67,856,640 (GRCm39)	R213Q	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
R3794:Dip2c	UTSW	13	9,654,597 (GRCm39)	missense	probably damaging	0.99
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
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'- GGTTAGGCCTTATGATGTATTCCC -3'
(R):5'- GGTGGCCCTTTCAGATATGC -3'

Sequencing Primer
(F):5'- GCCTTATGATGTATTCCCATGACAGG -3'
(R):5'- GCATTTGGAATGGCAACCTAC -3'

Posted On

2019-05-13