Mutagenetix > Incidental Mutation

Incidental Mutation 'R8081:Dennd1c'

629381

Institutional Source

Beutler Lab

Gene Symbol

Dennd1c

Ensembl Gene

ENSMUSG00000002668

Gene Name

DENN domain containing 1C

Synonyms

4432409M07Rik

MMRRC Submission

067514-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8081 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57373051-57385518 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 57381139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 163 (P163L)

Ref Sequence

ENSEMBL: ENSMUSP00000011623 (fasta)

Gene Model

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

AlphaFold

Q8CFK6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000011623
AA Change: P163L

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000011623
Gene: ENSMUSG00000002668
AA Change: P163L

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: 99.9%
3x: 99.7%
10x: 98.9%
20x: 95.7%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	T	6: 83,138,313 (GRCm39)	E119V	probably damaging	Het
Adamts2	A	T	11: 50,668,004 (GRCm39)	D522V	probably damaging	Het
Agtpbp1	A	T	13: 59,676,221 (GRCm39)	L183*	probably null	Het
Arhgap10	T	C	8: 78,109,375 (GRCm39)	I403V	possibly damaging	Het
Arhgef11	T	C	3: 87,632,949 (GRCm39)	S687P	probably damaging	Het
Cdhr1	C	T	14: 36,815,967 (GRCm39)	V144I	probably benign	Het
Cdk20	A	G	13: 64,586,766 (GRCm39)	I339V	probably benign	Het
Ceacam13	A	G	7: 17,747,113 (GRCm39)	K189E	probably damaging	Het
Cep290	C	T	10: 100,394,038 (GRCm39)	Q2082*	probably null	Het
Cgrrf1	A	G	14: 47,091,468 (GRCm39)	T331A	probably benign	Het
Cntn4	G	A	6: 106,651,568 (GRCm39)	V706I	possibly damaging	Het
Csrnp2	T	C	15: 100,387,462 (GRCm39)	D2G	probably damaging	Het
Cux2	A	G	5: 122,007,519 (GRCm39)	I714T	probably benign	Het
Cx3cr1	C	T	9: 119,880,878 (GRCm39)	E175K	possibly damaging	Het
Dhtkd1	C	T	2: 5,928,919 (GRCm39)	E251K	probably damaging	Het
Epas1	C	T	17: 87,136,797 (GRCm39)	P787S	probably benign	Het
Epha2	T	C	4: 141,049,605 (GRCm39)	V737A	probably damaging	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Fcsk	T	A	8: 111,615,783 (GRCm39)	R515S	probably benign	Het
Fscb	A	T	12: 64,518,802 (GRCm39)	M888K	unknown	Het
Gldc	ACGACC	AC	19: 30,135,987 (GRCm39)		probably null	Het
Gm14443	A	T	2: 175,012,238 (GRCm39)	C69*	probably null	Het
Gm19668	G	A	10: 77,634,420 (GRCm39)	A183V	unknown	Het
Gm49368	A	G	7: 127,726,280 (GRCm39)	R1231G	unknown	Het
Grin2c	T	C	11: 115,140,719 (GRCm39)	Y1133C	probably damaging	Het
H3c13	C	A	3: 96,176,309 (GRCm39)	Y100*	probably null	Het
Hydin	T	C	8: 111,092,101 (GRCm39)	S425P	possibly damaging	Het
Ifnl3	T	C	7: 28,223,682 (GRCm39)	S173P	probably damaging	Het
Igkv4-63	A	T	6: 69,355,018 (GRCm39)	S88T	possibly damaging	Het
Klhl5	C	A	5: 65,320,268 (GRCm39)	N607K	possibly damaging	Het
Lag3	A	T	6: 124,882,410 (GRCm39)	L362*	probably null	Het
Lats2	C	A	14: 57,937,968 (GRCm39)	G174C	probably damaging	Het
Mcm6	T	C	1: 128,265,905 (GRCm39)	E622G	probably damaging	Het
Med13l	C	A	5: 118,866,333 (GRCm39)	H462Q	probably damaging	Het
Mrpl53	T	A	6: 83,086,159 (GRCm39)	F23I	probably damaging	Het
Muc5b	T	G	7: 141,417,743 (GRCm39)	I3563S	possibly damaging	Het
Myo16	A	C	8: 10,372,743 (GRCm39)	L147F	unknown	Het
Npc1l1	G	C	11: 6,167,768 (GRCm39)	Q1008E	probably benign	Het
Npy4r	A	G	14: 33,868,524 (GRCm39)	S255P	probably damaging	Het
Nup210	T	C	6: 91,053,657 (GRCm39)	N287D	probably benign	Het
Opn3	T	A	1: 175,493,135 (GRCm39)	H143L	probably damaging	Het
Or12e7	G	T	2: 87,287,513 (GRCm39)	M1I	probably null	Het
Or12j3	A	T	7: 139,952,972 (GRCm39)	L184M	probably damaging	Het
Or12j5	A	T	7: 140,084,369 (GRCm39)	M1K	probably null	Het
Or4k2	T	A	14: 50,423,825 (GRCm39)	N284I	probably damaging	Het
Or5ap2b-ps1	C	T	2: 85,693,839 (GRCm39)	P28L	probably damaging	Het
Pdcd7	C	T	9: 65,253,967 (GRCm39)	R182C	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Picalm	T	A	7: 89,840,451 (GRCm39)	L540*	probably null	Het
Ppp1r21	T	A	17: 88,866,272 (GRCm39)	I356N	probably damaging	Het
Rgs6	C	T	12: 83,094,347 (GRCm39)	Q67*	probably null	Het
Ripor2	C	A	13: 24,897,683 (GRCm39)	Q794K	probably benign	Het
Rnf216	A	T	5: 143,013,719 (GRCm39)	I702N	probably damaging	Het
Robo4	T	C	9: 37,316,936 (GRCm39)	L417P	probably damaging	Het
Samhd1	A	T	2: 156,943,358 (GRCm39)	C605*	probably null	Het
Scaper	C	T	9: 55,823,330 (GRCm39)	G22D	unknown	Het
Senp5	T	C	16: 31,784,577 (GRCm39)	T692A	probably damaging	Het
Six6	G	T	12: 72,986,875 (GRCm39)	G16W	probably damaging	Het
Slc38a8	A	T	8: 120,212,269 (GRCm39)	M358K	possibly damaging	Het
Snx2	T	C	18: 53,349,459 (GRCm39)	F407L	probably benign	Het
Srrm2	T	A	17: 24,039,219 (GRCm39)	N1954K	probably damaging	Het
Syk	A	T	13: 52,792,195 (GRCm39)	M429L	probably benign	Het
Tln2	T	A	9: 67,264,029 (GRCm39)	N537Y	probably damaging	Het
Usp29	T	A	7: 6,966,629 (GRCm39)	M824K	probably benign	Het
Utrn	A	G	10: 12,423,803 (GRCm39)		probably benign	Het
Wdr37	C	T	13: 8,885,406 (GRCm39)	D346N	probably damaging	Het
Zfpm2	T	A	15: 40,965,644 (GRCm39)	C710S	probably 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
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
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'- GGTAGCTAAGGTTTGCTGTCCC -3'
(R):5'- CAGCAACACCCACTTCTTGG -3'

Sequencing Primer
(F):5'- TAAGGTTTGCTGTCCCACCCAC -3'
(R):5'- GACCCCGGTTTTCAGGAAGATC -3'

Posted On

2020-06-30