Mutagenetix > Incidental Mutation

Incidental Mutation 'R9474:Dip2c'

715665

Institutional Source

Beutler Lab

Gene Symbol

Dip2c

Ensembl Gene

ENSMUSG00000048264

Gene Name

disco interacting protein 2 homolog C

Synonyms

2900024P20Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.589) question?

Stock #

R9474 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

9326564-9718964 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9544963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 84 (D84G)

Ref Sequence

ENSEMBL: ENSMUSP00000131238 (fasta)

Gene Model

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

AlphaFold

E9PWR4

Predicted Effect

probably benign
Transcript: ENSMUST00000166299

SMART Domains

Protein: ENSMUSP00000126827
Gene: ENSMUSG00000048264

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

unknown
Transcript: ENSMUST00000169960
AA Change: D84G

SMART Domains

Protein: ENSMUSP00000131238
Gene: ENSMUSG00000048264
AA Change: D84G

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

SMART Domains

Protein: ENSMUSP00000133806
Gene: ENSMUSG00000048264

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: 98.6%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	C	A	10: 78,903,565 (GRCm39)	K250N	probably damaging	Het
Adam5	A	T	8: 25,237,540 (GRCm39)	D623E	possibly damaging	Het
Akt3	T	C	1: 176,852,952 (GRCm39)	Y473C	probably damaging	Het
Ankib1	A	G	5: 3,805,617 (GRCm39)	Y217H	probably damaging	Het
Clca4b	T	A	3: 144,616,927 (GRCm39)	T908S	probably benign	Het
Clec7a	G	A	6: 129,440,126 (GRCm39)	Q160*	probably null	Het
Cntnap4	T	A	8: 113,460,103 (GRCm39)	I152N	probably damaging	Het
Ctdspl	C	T	9: 118,866,445 (GRCm39)	A179V	probably damaging	Het
Ddx43	T	C	9: 78,313,668 (GRCm39)	S200P	probably damaging	Het
Dmbt1	G	A	7: 130,675,987 (GRCm39)	R625H	unknown	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
E2f7	C	T	10: 110,603,050 (GRCm39)	T355I	probably damaging	Het
E2f7	C	A	10: 110,614,918 (GRCm39)	L541M	probably damaging	Het
Elovl5	T	A	9: 77,890,007 (GRCm39)	S273T	possibly damaging	Het
Emc1	T	A	4: 139,093,705 (GRCm39)	L605Q	probably damaging	Het
Fras1	T	A	5: 96,887,124 (GRCm39)	D2635E	probably benign	Het
Gabrb1	G	A	5: 72,265,690 (GRCm39)	G195E	probably damaging	Het
Galm	A	G	17: 80,457,561 (GRCm39)	D199G	possibly damaging	Het
Galntl6	T	G	8: 58,230,359 (GRCm39)	S20R	probably damaging	Het
Grb14	T	G	2: 64,768,744 (GRCm39)	Y189S	probably damaging	Het
Hk2	T	A	6: 82,705,895 (GRCm39)	I803F	probably damaging	Het
Hmcn1	G	A	1: 150,506,471 (GRCm39)	R3779W	probably damaging	Het
Hmgcr	A	C	13: 96,796,403 (GRCm39)	M260R	probably damaging	Het
Hsbp1l1	T	A	18: 80,276,639 (GRCm39)	K68N	possibly damaging	Het
Inhba	A	C	13: 16,192,263 (GRCm39)	E128A	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Klhl3	G	A	13: 58,167,273 (GRCm39)	P364S	probably damaging	Het
Lhpp	T	C	7: 132,243,312 (GRCm39)	L176P	probably damaging	Het
Lrp1b	C	A	2: 40,491,599 (GRCm39)	A223S	probably damaging	Het
Lrp3	A	G	7: 34,903,489 (GRCm39)	F286L	probably damaging	Het
Lrrc7	T	C	3: 157,841,028 (GRCm39)	T1337A	probably benign	Het
Magi2	A	G	5: 20,400,019 (GRCm39)	D17G	probably benign	Het
Map3k21	T	C	8: 126,650,903 (GRCm39)	S302P	probably damaging	Het
Matcap2	T	C	9: 22,343,015 (GRCm39)	M303T	probably damaging	Het
Mbtd1	A	G	11: 93,816,511 (GRCm39)	D386G	probably benign	Het
Mfsd2b	A	T	12: 4,916,820 (GRCm39)	D306E	possibly damaging	Het
Muc20	T	C	16: 32,614,453 (GRCm39)	E308G	probably damaging	Het
Myh13	G	A	11: 67,255,712 (GRCm39)	S34N		Het
Nebl	C	A	2: 17,374,421 (GRCm39)	G894*	probably null	Het
Nelfa	A	G	5: 34,056,095 (GRCm39)	Y523H	probably damaging	Het
Ninj1	A	G	13: 49,341,076 (GRCm39)	D13G	probably benign	Het
Ninl	A	T	2: 150,782,726 (GRCm39)	S170T	probably benign	Het
Nlrp4c	G	A	7: 6,068,626 (GRCm39)	V176M	possibly damaging	Het
Nobox	G	A	6: 43,284,115 (GRCm39)	R144C	probably damaging	Het
Oas1a	G	A	5: 121,037,317 (GRCm39)	L237F	probably damaging	Het
Or4a81	A	C	2: 89,619,506 (GRCm39)	Y63*	probably null	Het
Or52z15	A	T	7: 103,332,477 (GRCm39)	Y184F	probably damaging	Het
Or5w20	T	C	2: 87,726,693 (GRCm39)	M50T	probably benign	Het
Or6z1	A	G	7: 6,505,150 (GRCm39)	L25P	probably benign	Het
Or7c70	T	C	10: 78,682,891 (GRCm39)	N286S	probably damaging	Het
Or8h9	A	G	2: 86,789,757 (GRCm39)	M15T	probably benign	Het
Orai1	A	G	5: 123,167,301 (GRCm39)	N158S	probably damaging	Het
Pa2g4	C	A	10: 128,398,967 (GRCm39)	V121L	probably benign	Het
Pclo	T	C	5: 14,571,250 (GRCm39)	S212P	possibly damaging	Het
Plce1	G	A	19: 38,766,337 (GRCm39)	E2121K	possibly damaging	Het
Plg	A	G	17: 12,622,024 (GRCm39)	Y448C	probably damaging	Het
Plppr4	A	T	3: 117,116,866 (GRCm39)	N330K	probably damaging	Het
Pou2f2	A	G	7: 24,794,247 (GRCm39)	L373S	probably benign	Het
Rnpep	A	G	1: 135,211,341 (GRCm39)	F136L	probably benign	Het
Rp1	A	G	1: 4,162,838 (GRCm39)		probably null	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slc5a4a	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	10: 75,986,238 (GRCm39)		probably benign	Het
Slc5a5	T	C	8: 71,337,596 (GRCm39)	D574G	probably benign	Het
Slc7a15	T	A	12: 8,588,794 (GRCm39)	N251I	probably damaging	Het
Speer4a3	A	T	5: 26,158,136 (GRCm39)	I72N	probably damaging	Het
Susd4	T	C	1: 182,719,665 (GRCm39)	S427P	probably benign	Het
Tarbp1	T	A	8: 127,155,779 (GRCm39)	T1320S	probably benign	Het
Tbpl2	C	T	2: 23,984,650 (GRCm39)	V166I	probably benign	Het
Thbs1	T	C	2: 117,950,518 (GRCm39)		probably null	Het
Tnfsf13b	A	G	8: 10,081,648 (GRCm39)	Y270C	probably damaging	Het
Vps11	G	T	9: 44,260,290 (GRCm39)	C857*	probably null	Het
Vsig10	G	A	5: 117,463,104 (GRCm39)	R110H	probably benign	Het
Wee2	T	A	6: 40,432,044 (GRCm39)	Y204*	probably null	Het
Zfpm2	T	A	15: 40,966,867 (GRCm39)	S1117R	probably damaging	Het
Zscan5b	A	G	7: 6,234,472 (GRCm39)	N166S	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
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
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'- ACCGATTGAAGCCCTTGGTG -3'
(R):5'- AGGCAGGTATTCTCTTTCAGGAC -3'

Sequencing Primer
(F):5'- ATTGAAGCCCTTGGTGGTCTG -3'
(R):5'- GCAGGTATTCTCTTTCAGGACCTAAC -3'

Posted On

2022-06-15