Mutagenetix > Incidental Mutation

Incidental Mutation 'R0288:Dennd1c'

24756

Institutional Source

Beutler Lab

Gene Symbol

Dennd1c

Ensembl Gene

ENSMUSG00000002668

Gene Name

DENN domain containing 1C

Synonyms

4432409M07Rik

MMRRC Submission

038507-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0288 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57373051-57385518 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 57383870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000011623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011623] [ENSMUST00000071135]

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

Predicted Effect

probably benign
Transcript: ENSMUST00000071135

SMART Domains

Protein: ENSMUSP00000071135
Gene: ENSMUSG00000062591

Domain	Start	End	E-Value	Type
Tubulin	47	244	4.45e-67	SMART
Tubulin_C	246	383	5.5e-49	SMART
low complexity region	428	444	N/A	INTRINSIC

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.1%
20x: 89.7%

Validation Efficiency

98% (62/63)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	A	G	8: 95,766,568 (GRCm39)	E413G	possibly damaging	Het
Amigo2	G	T	15: 97,143,560 (GRCm39)	N287K	probably damaging	Het
Ankle2	T	A	5: 110,384,256 (GRCm39)	I260K	probably damaging	Het
Apob	C	T	12: 8,040,779 (GRCm39)	R635*	probably null	Het
Camkv	A	G	9: 107,823,555 (GRCm39)	Y153C	probably damaging	Het
Capn9	A	G	8: 125,327,230 (GRCm39)		probably benign	Het
Ces2c	A	G	8: 105,576,376 (GRCm39)	I130V	probably benign	Het
Cfap44	T	A	16: 44,236,257 (GRCm39)		probably benign	Het
Cfhr3	A	G	1: 139,525,425 (GRCm39)		noncoding transcript	Het
Chmp1a	G	T	8: 123,934,745 (GRCm39)	D70E	probably damaging	Het
Coil	G	A	11: 88,872,694 (GRCm39)	G352R	probably damaging	Het
Colq	T	C	14: 31,265,949 (GRCm39)	E188G	possibly damaging	Het
Cyfip2	A	G	11: 46,144,799 (GRCm39)	F685S	possibly damaging	Het
Cyp4f39	A	G	17: 32,711,410 (GRCm39)	N519S	probably benign	Het
Dnah9	A	T	11: 65,915,960 (GRCm39)		probably null	Het
Dnmbp	T	C	19: 43,890,898 (GRCm39)	T290A	possibly damaging	Het
Dsc2	T	C	18: 20,166,177 (GRCm39)	D818G	probably damaging	Het
Gnptab	G	A	10: 88,268,967 (GRCm39)	V557I	probably benign	Het
Hdac4	A	T	1: 91,898,728 (GRCm39)	H675Q	probably damaging	Het
Kcnk3	T	C	5: 30,745,764 (GRCm39)	M35T	probably benign	Het
Kif1b	A	T	4: 149,283,795 (GRCm39)	I1290N	probably damaging	Het
Klhl14	G	A	18: 21,698,620 (GRCm39)	R398W	probably damaging	Het
Marveld1	T	C	19: 42,136,265 (GRCm39)	F60L	probably damaging	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Ndst3	A	T	3: 123,465,843 (GRCm39)	V43D	probably benign	Het
Nhsl1	A	G	10: 18,399,794 (GRCm39)	D306G	probably damaging	Het
Nlrp2	A	G	7: 5,331,544 (GRCm39)	V284A	probably benign	Het
Pcdhb15	T	C	18: 37,608,451 (GRCm39)	V561A	probably damaging	Het
Pdcl2	T	C	5: 76,460,344 (GRCm39)	I177V	possibly damaging	Het
Pkd1l3	G	A	8: 110,373,131 (GRCm39)		probably null	Het
Pla2g6	A	C	15: 79,171,106 (GRCm39)		probably benign	Het
Plekhj1	A	T	10: 80,632,444 (GRCm39)	I122N	probably damaging	Het
Pmel	T	C	10: 128,550,175 (GRCm39)	I70T	probably benign	Het
Psip1	T	C	4: 83,383,196 (GRCm39)	D273G	probably damaging	Het
Rictor	A	G	15: 6,816,021 (GRCm39)	I1098V	probably benign	Het
Rif1	T	C	2: 52,000,025 (GRCm39)	S1160P	probably damaging	Het
Rsbn1l	T	C	5: 21,125,038 (GRCm39)	I255V	probably damaging	Het
Slc15a5	A	G	6: 137,994,914 (GRCm39)		probably benign	Het
Slc29a1	G	A	17: 45,900,730 (GRCm39)	R111W	probably damaging	Het
Slc36a1	G	A	11: 55,109,913 (GRCm39)	A74T	probably damaging	Het
Slc5a7	A	T	17: 54,600,046 (GRCm39)	Y122*	probably null	Het
Slc6a3	G	T	13: 73,709,047 (GRCm39)	G324W	probably damaging	Het
Sltm	T	C	9: 70,486,633 (GRCm39)	S433P	probably damaging	Het
Spta1	T	C	1: 174,070,745 (GRCm39)	S2190P	probably damaging	Het
Sry	A	T	Y: 2,662,818 (GRCm39)	F281I	unknown	Het
Stk32a	T	A	18: 43,438,060 (GRCm39)		probably null	Het
Sytl2	T	C	7: 90,052,228 (GRCm39)		probably benign	Het
Tbl3	G	A	17: 24,920,781 (GRCm39)	H612Y	probably damaging	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Top2a	A	G	11: 98,907,249 (GRCm39)		probably benign	Het
Usp9y	A	T	Y: 1,333,606 (GRCm39)		probably benign	Het
Vldlr	G	A	19: 27,218,051 (GRCm39)		probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vmn2r28	A	G	7: 5,491,020 (GRCm39)	L409P	probably damaging	Het
Vps13c	T	C	9: 67,834,648 (GRCm39)	V1659A	probably damaging	Het
Wdr17	C	T	8: 55,146,131 (GRCm39)	A90T	possibly damaging	Het
Zfp280d	A	T	9: 72,238,621 (GRCm39)	K646*	probably null	Het
Zfp36	A	G	7: 28,077,666 (GRCm39)	S81P	probably benign	Het
Zfp618	A	T	4: 63,051,171 (GRCm39)	T651S	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
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
R2216:Dennd1c	UTSW	17	57,381,492 (GRCm39)	critical splice donor site	probably null
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'- AGTACACCAGTCCTCTTGGCCTTG -3'
(R):5'- TTCAGCAGCATTCACACCTGGCTC -3'

Sequencing Primer
(F):5'- GCCTTGCCCCTCAGTTCAG -3'
(R):5'- CCTAGTTACACACGAGACAGGG -3'

Posted On

2013-04-16