Mutagenetix > Incidental Mutation

Incidental Mutation 'R9155:Dennd1c'

695343

Institutional Source

Beutler Lab

Gene Symbol

Dennd1c

Ensembl Gene

ENSMUSG00000002668

Gene Name

DENN/MADD domain containing 1C

Synonyms

4432409M07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57066056-57078510 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57066796 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 589 (Q589R)

Ref Sequence

ENSEMBL: ENSMUSP00000011623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011623] [ENSMUST00000071826] [ENSMUST00000097299] [ENSMUST00000163628] [ENSMUST00000163763] [ENSMUST00000169543]

AlphaFold

Q8CFK6

Predicted Effect

probably benign
Transcript: ENSMUST00000011623
AA Change: Q589R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000011623
Gene: ENSMUSG00000002668
AA Change: Q589R

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: ENSMUST00000071826

SMART Domains

Protein: ENSMUSP00000071729
Gene: ENSMUSG00000044279

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
transmembrane domain	50	72	N/A	INTRINSIC
low complexity region	99	108	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097299

SMART Domains

Protein: ENSMUSP00000094902
Gene: ENSMUSG00000044279

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
transmembrane domain	50	72	N/A	INTRINSIC
low complexity region	99	108	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163628

SMART Domains

Protein: ENSMUSP00000126402
Gene: ENSMUSG00000044279

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
SCOP:d1fwxa1	30	52	5e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163763

SMART Domains

Protein: ENSMUSP00000132502
Gene: ENSMUSG00000044279

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
transmembrane domain	50	72	N/A	INTRINSIC
low complexity region	99	108	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169543

SMART Domains

Protein: ENSMUSP00000125760
Gene: ENSMUSG00000044279

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
transmembrane domain	50	72	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	G	5: 107,543,945	E34G	probably damaging	Het
4932415D10Rik	A	T	10: 82,284,369	I4269N	probably damaging	Het
Aldh1a3	A	T	7: 66,409,119	L157*	probably null	Het
Asic2	T	A	11: 80,894,046	T356S	probably benign	Het
Ate1	T	C	7: 130,394,733	D459G	probably damaging	Het
Cacna1g	T	A	11: 94,459,597	Q474L		Het
Carf	C	A	1: 60,150,683	T689K	possibly damaging	Het
Carmil2	A	G	8: 105,686,290	D6G	probably benign	Het
Ccnd2	A	C	6: 127,150,700	V25G	probably damaging	Het
Ccnk	T	A	12: 108,193,719	F153L	probably damaging	Het
Cdh23	C	T	10: 60,413,706	G808E	probably damaging	Het
Clec11a	C	T	7: 44,304,893	R212Q	probably damaging	Het
Cog4	T	C	8: 110,881,752	W749R	probably damaging	Het
Col6a3	T	A	1: 90,810,579	T1073S	probably benign	Het
Col6a4	T	A	9: 106,075,010	D563V	probably benign	Het
Coq5	A	G	5: 115,295,780		probably null	Het
Crebbp	A	C	16: 4,096,482	H1292Q	probably damaging	Het
Csmd3	C	A	15: 47,585,655	G2737W		Het
Ddrgk1	T	C	2: 130,658,307	Y223C	probably damaging	Het
Dnah10	A	G	5: 124,830,411	D4336G	probably damaging	Het
Dnah11	C	T	12: 118,027,516	E2372K	probably damaging	Het
E330034G19Rik	A	T	14: 24,296,870	Q140L	possibly damaging	Het
Ergic3	A	G	2: 156,008,860	Y83C	probably damaging	Het
Fam171a2	A	T	11: 102,438,671	S421T	probably benign	Het
Fam26f	T	C	10: 34,126,367	E240G	probably damaging	Het
Fndc3a	T	A	14: 72,683,722	H4L	possibly damaging	Het
Gid8	T	A	2: 180,717,963	Y213*	probably null	Het
Gm9573	G	A	17: 35,621,239	P685L	unknown	Het
Hephl1	G	T	9: 15,089,079	H292Q	probably damaging	Het
Hexb	T	C	13: 97,177,906	Y443C	probably damaging	Het
Htr1f	C	T	16: 64,926,425	R168H	probably benign	Het
Hus1	A	G	11: 9,006,056	I159T	probably damaging	Het
Inha	A	G	1: 75,509,489	T143A	probably benign	Het
Itga8	A	G	2: 12,189,519	I690T	probably benign	Het
Itgae	G	T	11: 73,125,263	C766F	possibly damaging	Het
Kank4	T	C	4: 98,778,326	E628G	probably benign	Het
Kctd19	T	C	8: 105,393,939	H221R	probably benign	Het
Llgl1	A	G	11: 60,707,108	E351G	probably benign	Het
Lrba	A	G	3: 86,295,201	Y253C	probably damaging	Het
Lrp2	T	A	2: 69,461,369	R3489*	probably null	Het
Lrriq1	T	C	10: 103,214,779	N704S	probably benign	Het
Mbtps1	T	C	8: 119,508,954	N995S	probably benign	Het
Mga	T	C	2: 119,926,532	C1077R	probably damaging	Het
Ndufv1	A	T	19: 4,009,912	C142S	probably damaging	Het
Nkx3-1	T	C	14: 69,192,211	L226P	probably damaging	Het
Nsd1	C	T	13: 55,213,440	R74W	probably damaging	Het
Olfr136	A	T	17: 38,335,333	M59L	probably damaging	Het
Olfr1451	G	A	19: 12,999,064	C26Y	probably benign	Het
Olfr361	A	C	2: 37,085,004	M248R	probably benign	Het
Olfr412	A	G	11: 74,364,965	T99A	probably benign	Het
Olfr855	A	T	9: 19,585,083	D182V	probably benign	Het
Phc3	A	G	3: 30,914,542	V812A	probably benign	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,499,669		probably null	Het
Ppp4c	A	T	7: 126,787,247	C193S	possibly damaging	Het
Rbbp5	C	A	1: 132,494,285	P308T	probably damaging	Het
Rhot1	A	G	11: 80,257,554	T607A	probably null	Het
Secisbp2l	G	A	2: 125,775,703	P18L	probably damaging	Het
Slc27a4	G	A	2: 29,811,282	G362S	probably damaging	Het
Slc4a8	T	C	15: 100,774,690	Y36H	probably damaging	Het
Sox17	T	C	1: 4,492,224	Y251C	probably damaging	Het
Taf4b	T	C	18: 14,813,239	V373A	probably benign	Het
Tecpr2	T	A	12: 110,914,750	V107E	probably damaging	Het
Them7	A	G	2: 105,378,779	Y148C	probably damaging	Het
Tktl2	T	A	8: 66,513,206	M472K	possibly damaging	Het
Ttn	C	T	2: 76,795,593	V15041I	probably damaging	Het
Ubr1	A	G	2: 120,924,134	V751A	possibly damaging	Het
Vmn1r213	A	T	13: 23,012,173	R309*	probably null	Het
Vmn2r10	A	T	5: 108,996,346	D579E	probably benign	Het
Vmn2r118	T	C	17: 55,610,207	Q435R	probably null	Het
Vmn2r50	A	T	7: 10,047,644	H391Q	probably damaging	Het
Zbtb44	A	T	9: 31,054,013	I240F	probably benign	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
R2216:Dennd1c	UTSW	17	57074492	critical splice donor site	probably null
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
Z1177:Dennd1c	UTSW	17	57074330	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCCAGTTGCCATGGTAACC -3'
(R):5'- CACAACTGATGAGGGGTGTC -3'

Sequencing Primer
(F):5'- TGGTTGATGTCAGAAAGGG -3'
(R):5'- GTCTTCTAGACTCCGGAGACAAAG -3'

Posted On

2022-01-20