Mutagenetix > Incidental Mutation

Incidental Mutation 'R2216:Dennd1c'

241187

Institutional Source

Beutler Lab

Gene Symbol

Dennd1c

Ensembl Gene

ENSMUSG00000002668

Gene Name

DENN/MADD 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

57066056-57078510 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 57074492 bp (GRCm38)

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: 72,031,446	P146T	probably damaging	Het
Arnt2	T	A	7: 84,275,351	T423S	probably damaging	Het
Bend5	A	G	4: 111,448,590	N277S	probably null	Het
Cd22	G	T	7: 30,867,046	T816N	probably damaging	Het
Cep126	G	A	9: 8,120,678	R115C	probably damaging	Het
Cep85	T	C	4: 134,131,430	H710R	possibly damaging	Het
Cmya5	A	T	13: 93,093,495	L1695H	probably damaging	Het
Col24a1	T	C	3: 145,314,981	V371A	probably benign	Het
Csmd1	T	A	8: 17,027,339		probably null	Het
Cyp1a1	T	A	9: 57,702,069		probably null	Het
Dmxl1	G	A	18: 49,893,923	V2033I	probably benign	Het
Dtna	A	G	18: 23,569,565	H51R	probably damaging	Het
Dysf	G	A	6: 84,207,245		probably null	Het
Gcn1l1	T	A	5: 115,593,661	V945E	probably benign	Het
Gm12800	T	A	4: 101,910,060	W169R	probably damaging	Het
Gpbar1	C	G	1: 74,278,894	L99V	probably damaging	Het
Hdac9	A	T	12: 34,429,517	D212E	probably damaging	Het
Itga1	A	T	13: 114,997,029	D448E	probably benign	Het
Itga2b	T	A	11: 102,467,866	N75I	probably benign	Het
Klra7	T	C	6: 130,228,586	E117G	probably benign	Het
Kmt2b	G	A	7: 30,574,065	R2349C	probably benign	Het
Masp1	T	C	16: 23,492,055	N209S	probably benign	Het
Mybpc2	C	T	7: 44,512,500		probably null	Het
Myh15	C	G	16: 49,165,838	S1557*	probably null	Het
Myo3a	A	C	2: 22,577,771	T346P	probably benign	Het
Nim1k	A	G	13: 119,714,215	Y152H	probably damaging	Het
Nrp2	C	T	1: 62,762,918	R507*	probably null	Het
Olfr513	C	T	7: 108,755,612	T252M	probably damaging	Het
Olfr702	T	A	7: 106,823,998	H176L	probably damaging	Het
Parp14	T	C	16: 35,857,205	I798V	probably benign	Het
Pcnx2	C	T	8: 125,888,077	A212T	probably benign	Het
Pkhd1l1	A	T	15: 44,573,895	H3522L	probably damaging	Het
Pram1	C	T	17: 33,641,284	A275V	probably benign	Het
Prkag1	A	T	15: 98,815,946	M1K	probably null	Het
Prss52	T	C	14: 64,113,593	S276P	probably damaging	Het
Ranbp17	A	T	11: 33,481,125	V284D	probably damaging	Het
Reln	T	C	5: 22,048,005	D648G	probably benign	Het
Rnf112	A	G	11: 61,452,279	L190P	probably damaging	Het
Scn5a	G	T	9: 119,485,612	P2010Q	probably benign	Het
Scn5a	T	C	9: 119,513,085	Y1138C	probably benign	Het
Slc4a9	A	G	18: 36,530,745	H274R	probably benign	Het
Slc5a6	T	G	5: 31,039,335	E391D	possibly damaging	Het
Speer2	T	C	16: 69,858,842	Q32R	possibly damaging	Het
Tars	A	G	15: 11,389,708	V372A	probably benign	Het
Thsd7a	A	T	6: 12,337,268	L1250Q	possibly damaging	Het
Tnnt3	A	G	7: 142,512,564	Y222C	probably benign	Het
Trim40	T	C	17: 36,888,983	I68V	probably benign	Het
Trp53tg5	T	C	2: 164,471,306	I150V	probably benign	Het
Ube2u	T	C	4: 100,532,168	V109A	probably benign	Het
Usp54	A	T	14: 20,561,840	D969E	probably benign	Het
Vil1	G	T	1: 74,425,679	R495L	probably benign	Het
Wfs1	T	A	5: 36,967,220	K700*	probably null	Het
Zcchc8	A	G	5: 123,707,403	L298P	probably damaging	Het
Zfp946	A	T	17: 22,454,716	Q150H	possibly damaging	Het

Other mutations in Dennd1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01016:Dennd1c	APN	17	57066839	missense	probably damaging	0.99
IGL02729:Dennd1c	APN	17	57066637	missense	probably benign	0.34
IGL03185:Dennd1c	APN	17	57066803	missense	probably benign	0.00
R0067:Dennd1c	UTSW	17	57075465	missense	probably damaging	1.00
R0067:Dennd1c	UTSW	17	57075465	missense	probably damaging	1.00
R0288:Dennd1c	UTSW	17	57076870	splice site	probably null
R0380:Dennd1c	UTSW	17	57073822	missense	probably damaging	1.00
R0381:Dennd1c	UTSW	17	57073822	missense	probably damaging	1.00
R0389:Dennd1c	UTSW	17	57067649	missense	probably benign	0.02
R1528:Dennd1c	UTSW	17	57066935	missense	probably benign
R1892:Dennd1c	UTSW	17	57067083	missense	probably benign	0.00
R1936:Dennd1c	UTSW	17	57073889	splice site	probably benign
R3021:Dennd1c	UTSW	17	57074180	critical splice acceptor site	probably null
R3160:Dennd1c	UTSW	17	57066562	missense	possibly damaging	0.87
R3162:Dennd1c	UTSW	17	57066562	missense	possibly damaging	0.87
R3162:Dennd1c	UTSW	17	57066562	missense	possibly damaging	0.87
R4133:Dennd1c	UTSW	17	57076980	missense	possibly damaging	0.53
R4831:Dennd1c	UTSW	17	57066428	nonsense	probably null
R4987:Dennd1c	UTSW	17	57073852	missense	probably damaging	0.98
R5417:Dennd1c	UTSW	17	57066755	frame shift	probably null
R5418:Dennd1c	UTSW	17	57066755	frame shift	probably null
R6241:Dennd1c	UTSW	17	57066272	missense	probably benign	0.00
R6259:Dennd1c	UTSW	17	57067104	missense	probably damaging	1.00
R6722:Dennd1c	UTSW	17	57066802	missense	probably benign
R7099:Dennd1c	UTSW	17	57067915	critical splice donor site	probably null
R7491:Dennd1c	UTSW	17	57072379	missense	probably damaging	1.00
R7595:Dennd1c	UTSW	17	57071633	missense	probably damaging	1.00
R8081:Dennd1c	UTSW	17	57074139	missense	possibly damaging	0.94
R8198:Dennd1c	UTSW	17	57066460	missense	possibly damaging	0.84
R8896:Dennd1c	UTSW	17	57074512	missense	probably damaging	1.00
R9155:Dennd1c	UTSW	17	57066796	missense	probably benign	0.01
Z1177:Dennd1c	UTSW	17	57074330	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