Mutagenetix > Incidental Mutation

Incidental Mutation 'R4814:Dip2c'

369664

Institutional Source

Beutler Lab

Gene Symbol

Dip2c

Ensembl Gene

ENSMUSG00000048264

Gene Name

disco interacting protein 2 homolog C

Synonyms

2900024P20Rik

MMRRC Submission

042432-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.590) question?

Stock #

R4814 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9326564-9718964 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9586896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 200 (H200R)

Ref Sequence

ENSEMBL: ENSMUSP00000133806 (fasta)

Gene Model

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

AlphaFold

E9PWR4

Predicted Effect

probably benign
Transcript: ENSMUST00000166299
AA Change: H200R

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000126827
Gene: ENSMUSG00000048264
AA Change: H200R

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
AA Change: H256R

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000131238
Gene: ENSMUSG00000048264
AA Change: H256R

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 benign
Transcript: ENSMUST00000174552
AA Change: H200R

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000133806
Gene: ENSMUSG00000048264
AA Change: H200R

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

0.0671

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (79/79)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	G	16: 56,471,116 (GRCm39)	V587G	probably benign	Het
Abtb2	A	G	2: 103,547,632 (GRCm39)	D1002G	probably benign	Het
Acap2	A	G	16: 30,926,944 (GRCm39)	S524P	probably benign	Het
Acsm1	A	T	7: 119,254,687 (GRCm39)	I385L	probably benign	Het
Adra1a	C	G	14: 66,875,481 (GRCm39)	A152G	probably benign	Het
Agbl4	A	T	4: 111,513,565 (GRCm39)	Y437F	possibly damaging	Het
Amt	A	G	9: 108,176,979 (GRCm39)	T196A	probably benign	Het
Apobr	G	A	7: 126,185,859 (GRCm39)	V457M	probably benign	Het
Birc6	A	G	17: 74,956,667 (GRCm39)	K3563E	probably damaging	Het
Cdadc1	AGACGGA	AGA	14: 59,806,440 (GRCm39)		probably null	Het
Chrna9	T	C	5: 66,134,492 (GRCm39)	W448R	probably damaging	Het
Cyp4a31	A	T	4: 115,427,466 (GRCm39)	D224V	probably damaging	Het
Ddx10	C	A	9: 53,115,405 (GRCm39)	R643L	possibly damaging	Het
Dnah8	A	T	17: 30,986,898 (GRCm39)	R3182S	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Egfr	T	C	11: 16,819,354 (GRCm39)	C295R	probably damaging	Het
Garem1	A	T	18: 21,281,173 (GRCm39)	N394K	probably damaging	Het
Gcat	T	C	15: 78,915,322 (GRCm39)		probably null	Het
Gckr	C	T	5: 31,455,644 (GRCm39)	Q66*	probably null	Het
Gm26996	A	T	6: 130,556,317 (GRCm39)		noncoding transcript	Het
Gm9386	C	A	17: 81,246,141 (GRCm39)		noncoding transcript	Het
Gpr6	A	T	10: 40,947,258 (GRCm39)	M108K	possibly damaging	Het
H2-Q10	A	C	17: 35,784,481 (GRCm39)		probably benign	Het
Hpf1	A	G	8: 61,346,841 (GRCm39)	D52G	probably damaging	Het
Jak2	A	G	19: 29,279,377 (GRCm39)	R989G	probably damaging	Het
Kat7	A	G	11: 95,193,949 (GRCm39)		probably benign	Het
Kcnn3	G	T	3: 89,570,031 (GRCm39)	V615F	probably damaging	Het
Lgi1	G	T	19: 38,289,326 (GRCm39)		probably null	Het
Lrrtm4	A	T	6: 80,000,117 (GRCm39)	T510S	possibly damaging	Het
Map7d1	A	G	4: 126,128,114 (GRCm39)		probably null	Het
Mapt	T	C	11: 104,189,786 (GRCm39)	V252A	probably benign	Het
Mbd4	A	T	6: 115,826,260 (GRCm39)	S223T	possibly damaging	Het
Meig1	T	A	2: 3,412,959 (GRCm39)	I21L	probably benign	Het
Mia3	A	G	1: 183,113,684 (GRCm39)	Y447H	probably damaging	Het
Mrpl46	A	C	7: 78,430,343 (GRCm39)	N142K	probably benign	Het
Myo18a	C	A	11: 77,750,062 (GRCm39)		probably benign	Het
Nup188	A	G	2: 30,216,523 (GRCm39)	T776A	possibly damaging	Het
Oas1h	C	A	5: 121,000,728 (GRCm39)	H113N	probably damaging	Het
Or6c202	T	A	10: 128,996,245 (GRCm39)	T203S	possibly damaging	Het
Or7g18	A	G	9: 18,787,213 (GRCm39)	I197V	probably benign	Het
Or7g27	C	T	9: 19,250,476 (GRCm39)	T240M	probably damaging	Het
Or9i1b	A	T	19: 13,896,817 (GRCm39)	L144F	possibly damaging	Het
Orc3	T	A	4: 34,572,450 (GRCm39)		probably benign	Het
Osbpl3	T	A	6: 50,329,980 (GRCm39)	L65F	probably damaging	Het
Papola	C	A	12: 105,765,912 (GRCm39)	P4Q	probably damaging	Het
Pepd	A	G	7: 34,645,022 (GRCm39)	N151S	probably damaging	Het
Plekhm2	A	G	4: 141,355,150 (GRCm39)	L959P	probably benign	Het
Prpf40a	A	T	2: 53,080,032 (GRCm39)	H82Q	probably damaging	Het
Robo1	C	T	16: 72,768,923 (GRCm39)	T496M	probably benign	Het
Samd9l	T	G	6: 3,372,863 (GRCm39)	Q1466P	probably damaging	Het
Serpina1a	T	C	12: 103,821,022 (GRCm39)	T342A	probably benign	Het
Serpina3i	A	G	12: 104,231,470 (GRCm39)	T36A	probably benign	Het
Serpinb5	G	T	1: 106,800,069 (GRCm39)	L86F	probably damaging	Het
Slc35g1	A	G	19: 38,391,275 (GRCm39)	S186G	possibly damaging	Het
Slco6d1	T	A	1: 98,350,899 (GRCm39)	D126E	probably benign	Het
Smchd1	A	G	17: 71,718,763 (GRCm39)		probably null	Het
Smpdl3a	C	A	10: 57,687,337 (GRCm39)	T355K	probably damaging	Het
Sntg2	A	G	12: 30,423,267 (GRCm39)		probably benign	Het
Sox14	T	A	9: 99,757,284 (GRCm39)	M152L	probably benign	Het
Spats2l	G	T	1: 57,977,085 (GRCm39)	A308S	possibly damaging	Het
Tcf12	T	C	9: 71,777,323 (GRCm39)		probably benign	Het
Tcf7l2	T	A	19: 55,912,504 (GRCm39)	C478*	probably null	Het
Tekt5	A	G	16: 10,200,771 (GRCm39)	L250P	probably damaging	Het
Tmem132d	T	G	5: 128,061,328 (GRCm39)	I425L	probably benign	Het
Tmem174	T	A	13: 98,773,456 (GRCm39)	I125F	probably damaging	Het
Trafd1	T	G	5: 121,512,079 (GRCm39)	I404L	probably benign	Het
Trpm5	G	A	7: 142,636,373 (GRCm39)	P500S	possibly damaging	Het
Trpm6	T	A	19: 18,839,576 (GRCm39)	N1616K	probably benign	Het
Vmn1r4	A	G	6: 56,933,715 (GRCm39)	D73G	possibly damaging	Het
Vmn2r85	T	A	10: 130,254,567 (GRCm39)	I706F	probably benign	Het
Zc3h14	C	G	12: 98,719,107 (GRCm39)	D157E	probably damaging	Het
Zfp982	A	G	4: 147,597,090 (GRCm39)	Q149R	possibly 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
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'- TTCTTGAAAACAGATACCTCTTCCG -3'
(R):5'- TGAAGTCCAGTGCAGCAACC -3'

Sequencing Primer
(F):5'- GATACCTCTTCCGGTTCAGAAGATG -3'
(R):5'- GTGCAGCAACCCAAAATCTG -3'

Posted On

2016-02-04