Mutagenetix > Incidental Mutation

Incidental Mutation 'R8833:Dip2c'

673992

Institutional Source

Beutler Lab

Gene Symbol

Dip2c

Ensembl Gene

ENSMUSG00000048264

Gene Name

disco interacting protein 2 homolog C

Synonyms

2900024P20Rik

MMRRC Submission

068661-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.589) question?

Stock #

R8833 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9326564-9718964 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 9625519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133806 (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

probably benign
Transcript: ENSMUST00000169960

SMART Domains

Protein: ENSMUSP00000131238
Gene: ENSMUSG00000048264

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

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

Meta Mutation Damage Score

0.9490

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (53/53)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c6	T	A	13: 4,496,377 (GRCm39)	D132E	possibly damaging	Het
Armh4	C	T	14: 50,011,318 (GRCm39)	V130I	probably benign	Het
Atp10b	A	G	11: 43,112,986 (GRCm39)	E844G	probably damaging	Het
Bbx	T	A	16: 50,045,629 (GRCm39)	M311L	probably benign	Het
Bzw2	A	T	12: 36,169,069 (GRCm39)	M153K	probably benign	Het
C1qtnf6	G	T	15: 78,409,574 (GRCm39)	T91K	probably benign	Het
Cdh4	A	G	2: 179,535,828 (GRCm39)	D793G	possibly damaging	Het
Ces4a	A	G	8: 105,858,614 (GRCm39)	I11V	probably benign	Het
Cpne9	T	C	6: 113,281,473 (GRCm39)	L518P	probably damaging	Het
Fam135b	T	C	15: 71,334,783 (GRCm39)	N804D	probably benign	Het
Frem3	G	A	8: 81,339,401 (GRCm39)	D565N	probably benign	Het
Fscb	T	A	12: 64,519,997 (GRCm39)	T490S	unknown	Het
Fuca1	A	G	4: 135,648,206 (GRCm39)	D31G	probably damaging	Het
Gbp8	G	T	5: 105,166,668 (GRCm39)	N220K	possibly damaging	Het
Gfra2	T	C	14: 71,163,337 (GRCm39)	F207L	probably damaging	Het
Grap2	A	G	15: 80,522,684 (GRCm39)	N70S	probably benign	Het
Ifna13	C	A	4: 88,562,157 (GRCm39)	E156*	probably null	Het
Jmjd1c	G	A	10: 67,054,162 (GRCm39)	R22H	probably benign	Het
Macf1	A	G	4: 123,365,134 (GRCm39)	V3209A	probably benign	Het
Muc5b	A	G	7: 141,412,105 (GRCm39)	T1684A	unknown	Het
Naip5	T	A	13: 100,359,442 (GRCm39)	E598V	probably damaging	Het
Niban1	T	A	1: 151,520,681 (GRCm39)	V125E	probably damaging	Het
Notch1	G	A	2: 26,371,615 (GRCm39)	T278I	probably damaging	Het
Or4d10c	A	G	19: 12,065,643 (GRCm39)	V171A	possibly damaging	Het
Or4k5	A	T	14: 50,385,823 (GRCm39)	C169*	probably null	Het
Or52z13	T	G	7: 103,247,444 (GRCm39)	F307C	possibly damaging	Het
Or5k14	A	T	16: 58,692,959 (GRCm39)	Y185N	probably damaging	Het
Orm1	A	T	4: 63,262,938 (GRCm39)	E35V	probably damaging	Het
Pak1	T	A	7: 97,503,839 (GRCm39)	I58N	possibly damaging	Het
Pard3b	A	G	1: 62,384,158 (GRCm39)	E841G	probably benign	Het
Pcdhb9	G	T	18: 37,534,468 (GRCm39)	R154I	probably benign	Het
Pdpr	G	A	8: 111,852,312 (GRCm39)	V560I	probably damaging	Het
Pkdcc	T	C	17: 83,531,355 (GRCm39)	F455L	probably damaging	Het
Potefam3c	A	T	8: 69,881,982 (GRCm39)	D331E	probably benign	Het
Pus7l	A	T	15: 94,438,143 (GRCm39)	F234Y	probably damaging	Het
Rab3gap2	T	A	1: 184,990,722 (GRCm39)	L632Q	probably damaging	Het
Rarb	T	A	14: 16,819,015 (GRCm38)		probably benign	Het
Ro60	T	A	1: 143,641,517 (GRCm39)	K315*	probably null	Het
Rom1	A	T	19: 8,905,471 (GRCm39)	H236Q	possibly damaging	Het
Secisbp2	T	C	13: 51,819,352 (GRCm39)	S311P	probably benign	Het
Slc26a1	T	C	5: 108,820,182 (GRCm39)	D355G	probably benign	Het
Slc28a3	C	T	13: 58,707,077 (GRCm39)	A574T	probably damaging	Het
Sox11	A	G	12: 27,392,313 (GRCm39)	V32A	possibly damaging	Het
Spata17	T	C	1: 186,915,436 (GRCm39)	Y107C	probably damaging	Het
Speer1a	C	A	5: 11,394,205 (GRCm39)	Y104*	probably null	Het
Stxbp5l	T	C	16: 37,024,814 (GRCm39)	T595A	probably benign	Het
Syt11	T	C	3: 88,655,149 (GRCm39)	D78G	probably damaging	Het
Tatdn2	T	G	6: 113,684,348 (GRCm39)	I674S	probably damaging	Het
Tex14	T	A	11: 87,383,878 (GRCm39)	S189R	probably benign	Het
Tln2	C	A	9: 67,128,693 (GRCm39)	E1465D	possibly damaging	Het
Tor3a	T	C	1: 156,483,373 (GRCm39)	T350A	probably benign	Het
Ttr	T	G	18: 20,799,550 (GRCm39)	V36G	probably damaging	Het
Vmn1r129	A	T	7: 21,095,205 (GRCm39)	H4Q	probably null	Het
Vmn1r32	A	G	6: 66,530,623 (GRCm39)	M51T	possibly damaging	Het
Zfp141	T	C	7: 42,125,687 (GRCm39)	T262A	possibly damaging	Het
Zfp980	T	A	4: 145,427,596 (GRCm39)	N108K	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
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'- TTAGCTACACACAGCCTGGC -3'
(R):5'- GGAACTGTCTCTATAGAACCTGGG -3'

Sequencing Primer
(F):5'- TGGCAGTGACACACGATAACTTC -3'
(R):5'- TGCTGACTGTGAACACCTTG -3'

Posted On

2021-07-15