Mutagenetix > Incidental Mutation

Incidental Mutation 'R2216:Dennd1c'

241187

Institutional Source

Beutler Lab

Gene Symbol

Dennd1c

Ensembl Gene

ENSMUSG00000002668

Gene Name

DENN domain containing 1C

Synonyms

4432409M07Rik

MMRRC Submission

040218-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2216 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57373051-57385518 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 57381492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000011623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011623]

AlphaFold

Q8CFK6

Predicted Effect

probably null
Transcript: ENSMUST00000011623

SMART Domains

Protein: ENSMUSP00000011623
Gene: ENSMUSG00000002668

Domain	Start	End	E-Value	Type
uDENN	9	89	1.18e-22	SMART
DENN	90	293	3.95e-74	SMART
low complexity region	312	318	N/A	INTRINSIC
dDENN	324	391	2.39e-18	SMART
low complexity region	560	579	N/A	INTRINSIC
low complexity region	657	675	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1C, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aipl1	G	T	11: 71,922,272 (GRCm39)	P146T	probably damaging	Het
Arnt2	T	A	7: 83,924,559 (GRCm39)	T423S	probably damaging	Het
Bend5	A	G	4: 111,305,787 (GRCm39)	N277S	probably null	Het
Cd22	G	T	7: 30,566,471 (GRCm39)	T816N	probably damaging	Het
Cep126	G	A	9: 8,120,679 (GRCm39)	R115C	probably damaging	Het
Cep85	T	C	4: 133,858,741 (GRCm39)	H710R	possibly damaging	Het
Cmya5	A	T	13: 93,230,003 (GRCm39)	L1695H	probably damaging	Het
Col24a1	T	C	3: 145,020,742 (GRCm39)	V371A	probably benign	Het
Csmd1	T	A	8: 17,077,355 (GRCm39)		probably null	Het
Cyp1a1	T	A	9: 57,609,352 (GRCm39)		probably null	Het
Dmxl1	G	A	18: 50,026,990 (GRCm39)	V2033I	probably benign	Het
Dtna	A	G	18: 23,702,622 (GRCm39)	H51R	probably damaging	Het
Dysf	G	A	6: 84,184,227 (GRCm39)		probably null	Het
Gcn1	T	A	5: 115,731,720 (GRCm39)	V945E	probably benign	Het
Gpbar1	C	G	1: 74,318,053 (GRCm39)	L99V	probably damaging	Het
Hdac9	A	T	12: 34,479,516 (GRCm39)	D212E	probably damaging	Het
Itga1	A	T	13: 115,133,565 (GRCm39)	D448E	probably benign	Het
Itga2b	T	A	11: 102,358,692 (GRCm39)	N75I	probably benign	Het
Klra7	T	C	6: 130,205,549 (GRCm39)	E117G	probably benign	Het
Kmt2b	G	A	7: 30,273,490 (GRCm39)	R2349C	probably benign	Het
Masp1	T	C	16: 23,310,805 (GRCm39)	N209S	probably benign	Het
Mybpc2	C	T	7: 44,161,924 (GRCm39)		probably null	Het
Myh15	C	G	16: 48,986,201 (GRCm39)	S1557*	probably null	Het
Myo3a	A	C	2: 22,467,783 (GRCm39)	T346P	probably benign	Het
Nim1k	A	G	13: 120,175,751 (GRCm39)	Y152H	probably damaging	Het
Nrp2	C	T	1: 62,802,077 (GRCm39)	R507*	probably null	Het
Or13n4	T	A	7: 106,423,205 (GRCm39)	H176L	probably damaging	Het
Or5e1	C	T	7: 108,354,819 (GRCm39)	T252M	probably damaging	Het
Parp14	T	C	16: 35,677,575 (GRCm39)	I798V	probably benign	Het
Pcnx2	C	T	8: 126,614,816 (GRCm39)	A212T	probably benign	Het
Pkhd1l1	A	T	15: 44,437,291 (GRCm39)	H3522L	probably damaging	Het
Pram1	C	T	17: 33,860,258 (GRCm39)	A275V	probably benign	Het
Pramel18	T	A	4: 101,767,257 (GRCm39)	W169R	probably damaging	Het
Prkag1	A	T	15: 98,713,827 (GRCm39)	M1K	probably null	Het
Prss52	T	C	14: 64,351,042 (GRCm39)	S276P	probably damaging	Het
Ranbp17	A	T	11: 33,431,125 (GRCm39)	V284D	probably damaging	Het
Reln	T	C	5: 22,253,003 (GRCm39)	D648G	probably benign	Het
Rnf112	A	G	11: 61,343,105 (GRCm39)	L190P	probably damaging	Het
Scn5a	G	T	9: 119,314,678 (GRCm39)	P2010Q	probably benign	Het
Scn5a	T	C	9: 119,342,151 (GRCm39)	Y1138C	probably benign	Het
Slc4a9	A	G	18: 36,663,798 (GRCm39)	H274R	probably benign	Het
Slc5a6	T	G	5: 31,196,679 (GRCm39)	E391D	possibly damaging	Het
Speer2	T	C	16: 69,655,730 (GRCm39)	Q32R	possibly damaging	Het
Tars1	A	G	15: 11,389,794 (GRCm39)	V372A	probably benign	Het
Thsd7a	A	T	6: 12,337,267 (GRCm39)	L1250Q	possibly damaging	Het
Tnnt3	A	G	7: 142,066,301 (GRCm39)	Y222C	probably benign	Het
Trim40	T	C	17: 37,199,875 (GRCm39)	I68V	probably benign	Het
Trp53tg5	T	C	2: 164,313,226 (GRCm39)	I150V	probably benign	Het
Ube2u	T	C	4: 100,389,365 (GRCm39)	V109A	probably benign	Het
Usp54	A	T	14: 20,611,908 (GRCm39)	D969E	probably benign	Het
Vil1	G	T	1: 74,464,838 (GRCm39)	R495L	probably benign	Het
Wfs1	T	A	5: 37,124,564 (GRCm39)	K700*	probably null	Het
Zcchc8	A	G	5: 123,845,466 (GRCm39)	L298P	probably damaging	Het
Zfp946	A	T	17: 22,673,697 (GRCm39)	Q150H	possibly damaging	Het

Other mutations in Dennd1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01016:Dennd1c	APN	17	57,373,839 (GRCm39)	missense	probably damaging	0.99
IGL02729:Dennd1c	APN	17	57,373,637 (GRCm39)	missense	probably benign	0.34
IGL03185:Dennd1c	APN	17	57,373,803 (GRCm39)	missense	probably benign	0.00
R0067:Dennd1c	UTSW	17	57,382,465 (GRCm39)	missense	probably damaging	1.00
R0067:Dennd1c	UTSW	17	57,382,465 (GRCm39)	missense	probably damaging	1.00
R0288:Dennd1c	UTSW	17	57,383,870 (GRCm39)	splice site	probably null
R0380:Dennd1c	UTSW	17	57,380,822 (GRCm39)	missense	probably damaging	1.00
R0381:Dennd1c	UTSW	17	57,380,822 (GRCm39)	missense	probably damaging	1.00
R0389:Dennd1c	UTSW	17	57,374,649 (GRCm39)	missense	probably benign	0.02
R1528:Dennd1c	UTSW	17	57,373,935 (GRCm39)	missense	probably benign
R1892:Dennd1c	UTSW	17	57,374,083 (GRCm39)	missense	probably benign	0.00
R1936:Dennd1c	UTSW	17	57,380,889 (GRCm39)	splice site	probably benign
R3021:Dennd1c	UTSW	17	57,381,180 (GRCm39)	critical splice acceptor site	probably null
R3160:Dennd1c	UTSW	17	57,373,562 (GRCm39)	missense	possibly damaging	0.87
R3162:Dennd1c	UTSW	17	57,373,562 (GRCm39)	missense	possibly damaging	0.87
R3162:Dennd1c	UTSW	17	57,373,562 (GRCm39)	missense	possibly damaging	0.87
R4133:Dennd1c	UTSW	17	57,383,980 (GRCm39)	missense	possibly damaging	0.53
R4831:Dennd1c	UTSW	17	57,373,428 (GRCm39)	nonsense	probably null
R4987:Dennd1c	UTSW	17	57,380,852 (GRCm39)	missense	probably damaging	0.98
R5417:Dennd1c	UTSW	17	57,373,755 (GRCm39)	frame shift	probably null
R5418:Dennd1c	UTSW	17	57,373,755 (GRCm39)	frame shift	probably null
R6241:Dennd1c	UTSW	17	57,373,272 (GRCm39)	missense	probably benign	0.00
R6259:Dennd1c	UTSW	17	57,374,104 (GRCm39)	missense	probably damaging	1.00
R6722:Dennd1c	UTSW	17	57,373,802 (GRCm39)	missense	probably benign
R7099:Dennd1c	UTSW	17	57,374,915 (GRCm39)	critical splice donor site	probably null
R7491:Dennd1c	UTSW	17	57,379,379 (GRCm39)	missense	probably damaging	1.00
R7595:Dennd1c	UTSW	17	57,378,633 (GRCm39)	missense	probably damaging	1.00
R8081:Dennd1c	UTSW	17	57,381,139 (GRCm39)	missense	possibly damaging	0.94
R8198:Dennd1c	UTSW	17	57,373,460 (GRCm39)	missense	possibly damaging	0.84
R8896:Dennd1c	UTSW	17	57,381,512 (GRCm39)	missense	probably damaging	1.00
R9155:Dennd1c	UTSW	17	57,373,796 (GRCm39)	missense	probably benign	0.01
Z1177:Dennd1c	UTSW	17	57,381,330 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGGGAGCTACTCACCATCTCTG -3'
(R):5'- GTCGGCATGCACAAAGTTC -3'

Sequencing Primer
(F):5'- TGATCTTCCTGAAAACCGGG -3'
(R):5'- TCGGCATGCACAAAGTTCTCAAAC -3'

Posted On

2014-10-15