Mutagenetix > Incidental Mutation

Incidental Mutation 'R7018:Dip2c'

545461

Institutional Source

Beutler Lab

Gene Symbol

Dip2c

Ensembl Gene

ENSMUSG00000048264

Gene Name

disco interacting protein 2 homolog C

Synonyms

2900024P20Rik

MMRRC Submission

045119-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.590) question?

Stock #

R7018 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9326564-9718964 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9709314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 1385 (Y1385N)

Ref Sequence

ENSEMBL: ENSMUSP00000133806 (fasta)

Gene Model

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

AlphaFold

E9PWR4

Predicted Effect

probably damaging
Transcript: ENSMUST00000166299
AA Change: Y1386N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126827
Gene: ENSMUSG00000048264
AA Change: Y1386N

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

possibly damaging
Transcript: ENSMUST00000169960
AA Change: Y1356N

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131238
Gene: ENSMUSG00000048264
AA Change: Y1356N

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 damaging
Transcript: ENSMUST00000174552
AA Change: Y1385N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133806
Gene: ENSMUSG00000048264
AA Change: Y1385N

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

Meta Mutation Damage Score

0.8890

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (64/64)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apcdd1	G	T	18: 63,070,120 (GRCm39)	R129L	probably damaging	Het
Arhgef28	C	T	13: 98,101,943 (GRCm39)	V844I	probably damaging	Het
Arhgef5	T	C	6: 43,265,665 (GRCm39)	V1569A	probably damaging	Het
Atr	T	A	9: 95,748,747 (GRCm39)	S431T	probably benign	Het
Cdh11	T	C	8: 103,360,953 (GRCm39)	D795G	possibly damaging	Het
Crygf	T	C	1: 65,967,130 (GRCm39)	S85P	probably benign	Het
Dnah14	G	A	1: 181,454,509 (GRCm39)	V840I	possibly damaging	Het
Dsg1a	T	C	18: 20,461,795 (GRCm39)	F299L	possibly damaging	Het
Fgfr4	A	T	13: 55,314,013 (GRCm39)	S576C	probably damaging	Het
Frmd8	T	C	19: 5,919,546 (GRCm39)	D167G	probably damaging	Het
Gm5105	G	A	3: 137,755,319 (GRCm39)	T89I	unknown	Het
Grhl1	C	T	12: 24,625,996 (GRCm39)	S35L	possibly damaging	Het
Gsn	A	G	2: 35,183,518 (GRCm39)	E242G	probably benign	Het
Hcrtr1	A	G	4: 130,029,661 (GRCm39)	I140T	probably damaging	Het
Ifnlr1	T	C	4: 135,431,135 (GRCm39)	Y208H	possibly damaging	Het
Ighv1-58	T	C	12: 115,275,985 (GRCm39)	Y51C	probably damaging	Het
Iqcj	T	A	3: 67,948,580 (GRCm39)	Y21*	probably null	Het
Kcnc4	T	C	3: 107,366,178 (GRCm39)	Y10C	probably benign	Het
Kcnk7	G	T	19: 5,756,160 (GRCm39)	G129W	probably damaging	Het
Kcnq2	T	A	2: 180,723,517 (GRCm39)	R620*	probably null	Het
Klk13	C	A	7: 43,376,126 (GRCm39)	P267Q	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
L3mbtl4	G	A	17: 68,793,938 (GRCm39)	R314H	probably damaging	Het
Lamc2	T	A	1: 153,012,488 (GRCm39)	M729L	probably benign	Het
Lyst	T	G	13: 13,918,044 (GRCm39)		probably null	Het
Med13l	G	A	5: 118,890,051 (GRCm39)	R1909H	probably damaging	Het
Mstn	T	A	1: 53,103,243 (GRCm39)	L193Q	possibly damaging	Het
Mylk	T	C	16: 34,820,796 (GRCm39)	V125A	possibly damaging	Het
Nalcn	T	A	14: 123,647,233 (GRCm39)	M547L	probably damaging	Het
Nckap5	A	G	1: 125,952,785 (GRCm39)	S1256P	probably damaging	Het
Nkain1	T	C	4: 130,532,118 (GRCm38)	Y189C	probably damaging	Het
Oosp3	T	A	19: 11,676,783 (GRCm39)	D47E	probably benign	Het
Or14j8	A	T	17: 38,263,393 (GRCm39)	I174N	probably damaging	Het
Or5d37	T	A	2: 87,923,600 (GRCm39)	I227F	probably benign	Het
Or5h25	A	G	16: 58,930,970 (GRCm39)	M1T	probably null	Het
Or5p66	T	G	7: 107,885,551 (GRCm39)	I261L	probably benign	Het
Pcdh15	G	T	10: 74,302,186 (GRCm39)	G942W	probably damaging	Het
Pcyox1l	C	A	18: 61,840,625 (GRCm39)		probably benign	Het
Peg3	T	C	7: 6,711,838 (GRCm39)	E1128G	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plscr1	T	A	9: 92,146,715 (GRCm39)	V119D	probably damaging	Het
Prss56	A	T	1: 87,113,670 (GRCm39)	D258V	possibly damaging	Het
Ptpn23	T	G	9: 110,214,884 (GRCm39)	K85Q	possibly damaging	Het
Ranbp3l	C	A	15: 9,037,159 (GRCm39)	S7Y	probably benign	Het
Rnf31	T	C	14: 55,829,690 (GRCm39)	L85P	probably damaging	Het
Rptn	T	C	3: 93,305,207 (GRCm39)	C847R	possibly damaging	Het
Six4	T	A	12: 73,155,727 (GRCm39)	E413D	probably benign	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Sned1	T	C	1: 93,212,143 (GRCm39)	V1115A	probably damaging	Het
Spen	T	C	4: 141,220,755 (GRCm39)	K401E	unknown	Het
Srbd1	T	A	17: 86,443,843 (GRCm39)	R128W	possibly damaging	Het
Strc	A	T	2: 121,199,539 (GRCm39)	I1300N	probably damaging	Het
Susd1	T	G	4: 59,390,627 (GRCm39)	T230P	probably benign	Het
Thumpd2	G	T	17: 81,363,326 (GRCm39)	S47*	probably null	Het
Tmprss11a	C	T	5: 86,576,429 (GRCm39)	V141I	probably damaging	Het
Tmprss15	T	C	16: 78,821,741 (GRCm39)	Y438C	possibly damaging	Het
Tnfrsf1a	T	C	6: 125,333,914 (GRCm39)	S56P	probably damaging	Het
Ttc39d	T	C	17: 80,523,610 (GRCm39)	W90R	probably benign	Het
Utp25	A	G	1: 192,797,163 (GRCm39)	I563T	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdr20rt	A	T	12: 65,272,536 (GRCm39)		probably null	Het
Zfp646	C	A	7: 127,481,494 (GRCm39)	Q1224K	probably benign	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
R6991:Dip2c	UTSW	13	9,601,896 (GRCm39)	nonsense	probably null
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'- GTCTTGTATTTGAACTGAACCAAGG -3'
(R):5'- TGGCTCTCAACCTCAAAGCC -3'

Sequencing Primer
(F):5'- CCAAGGAAGCCTTAGTCATTGTG -3'
(R):5'- ACCTCAAAGCCATTTTCAGTGTCAG -3'

Posted On

2019-05-13