Mutagenetix > Incidental Mutation

Incidental Mutation 'R6259:Dennd1c'

506586

Institutional Source

Beutler Lab

Gene Symbol

Dennd1c

Ensembl Gene

ENSMUSG00000002668

Gene Name

DENN/MADD domain containing 1C

Synonyms

4432409M07Rik

MMRRC Submission

044376-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6259 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57066056-57078510 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 57067104 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 522 (R522C)

Ref Sequence

ENSEMBL: ENSMUSP00000011623 (fasta)

Gene Model

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

AlphaFold

Q8CFK6

Predicted Effect

probably damaging
Transcript: ENSMUST00000011623
AA Change: R522C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000011623
Gene: ENSMUSG00000002668
AA Change: R522C

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

Meta Mutation Damage Score

0.1075

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

99% (74/75)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	G	17: 56,877,513	Y96C	probably benign	Het
5730507C01Rik	C	A	12: 18,534,119	N393K	probably benign	Het
Acap3	A	T	4: 155,896,118	I19F	possibly damaging	Het
Adamts5	C	T	16: 85,899,753	R172H	probably benign	Het
Adgra3	A	G	5: 49,999,141	F416L	possibly damaging	Het
Amy1	T	C	3: 113,569,410	D96G	possibly damaging	Het
Ank2	A	G	3: 127,016,986	S484P	probably benign	Het
Arsa	A	G	15: 89,475,521	C68R	probably damaging	Het
Asprv1	A	G	6: 86,628,379	Y69C	probably benign	Het
Ass1	A	G	2: 31,488,642	E162G	possibly damaging	Het
Atf7	G	T	15: 102,547,238	N230K	probably damaging	Het
Atp10b	A	G	11: 43,201,238	M367V	probably benign	Het
Atp11b	A	G	3: 35,806,901	Y179C	probably damaging	Het
BC004004	A	T	17: 29,298,712	Q300L	possibly damaging	Het
Bglap3	A	T	3: 88,368,760	I95N	probably damaging	Het
Cacna1h	T	C	17: 25,397,656		probably null	Het
Caskin2	C	T	11: 115,800,453	G1141D	probably damaging	Het
Clcn4	G	A	7: 7,291,530	R351W	possibly damaging	Het
Col11a1	T	C	3: 114,138,447	C89R	probably benign	Het
Csrp1	T	G	1: 135,739,514		probably null	Het
Cwf19l2	T	C	9: 3,458,879	I776T	probably damaging	Het
Cyp2b19	A	T	7: 26,771,392	Q486L	possibly damaging	Het
Cyp2j9	T	A	4: 96,584,006	Y165F	probably benign	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dmgdh	T	C	13: 93,752,308	V818A	probably benign	Het
Dst	T	A	1: 34,182,396	V2427E	probably benign	Het
Duox1	C	T	2: 122,344,783	T1354M	probably benign	Het
Ehbp1	A	G	11: 22,285,684		probably benign	Het
Epc2	T	A	2: 49,488,854		probably null	Het
Eya2	T	C	2: 165,716,099	V205A	probably benign	Het
Fam84a	T	A	12: 14,150,645	D27V	probably damaging	Het
Fat4	A	G	3: 39,007,246	H4326R	probably benign	Het
Gaa	C	A	11: 119,281,171	A700D	probably benign	Het
Gm10100	G	T	10: 77,726,664	C60F	possibly damaging	Het
Hhip	T	A	8: 79,972,404	R678W	probably damaging	Het
Il21r	T	A	7: 125,630,719	I266K	possibly damaging	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Kif26b	T	C	1: 178,917,405	S1689P	probably damaging	Het
L3mbtl2	A	G	15: 81,681,927	E317G	probably damaging	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lrr1	A	G	12: 69,174,815	N244D	probably damaging	Het
Lrrk2	A	T	15: 91,702,247	H422L	probably benign	Het
Map4k5	A	G	12: 69,852,740	S46P	probably damaging	Het
Ngf	A	G	3: 102,509,797		probably benign	Het
Nploc4	T	C	11: 120,385,865	I452V	probably benign	Het
Oas1d	T	A	5: 120,919,181	Y283*	probably null	Het
Olfr1156	T	C	2: 87,949,435	N266S	probably benign	Het
Olfr1463	A	G	19: 13,234,421	H57R	probably damaging	Het
Olfr648	A	T	7: 104,180,054	M118K	possibly damaging	Het
Olfr689	A	T	7: 105,314,057	I18F	probably benign	Het
Pdzrn4	A	T	15: 92,757,681	E485V	probably damaging	Het
Peg3	A	G	7: 6,709,811	V804A	probably damaging	Het
Piezo2	T	A	18: 63,117,678	Y450F	possibly damaging	Het
Pprc1	T	A	19: 46,064,410	V789E	probably damaging	Het
Prcc	A	G	3: 87,862,147	M436T	possibly damaging	Het
Prepl	A	T	17: 85,070,431	V507D	probably damaging	Het
Rag1	T	A	2: 101,644,452	N115I	possibly damaging	Het
Rap1gap	T	C	4: 137,681,757		probably null	Het
Reln	A	C	5: 22,060,333	F454V	probably damaging	Het
Slc39a11	A	T	11: 113,463,954	S150T	probably benign	Het
Slc45a1	T	A	4: 150,638,360	I356F	possibly damaging	Het
Snrnp200	G	A	2: 127,218,423	G529D	possibly damaging	Het
Stkld1	A	T	2: 26,949,381	D353V	possibly damaging	Het
Susd2	T	C	10: 75,638,046	S572G	probably damaging	Het
Synrg	T	A	11: 84,008,658	D563E	probably damaging	Het
Tmem131	C	T	1: 36,819,128	V713I	probably benign	Het
Tnfrsf8	A	G	4: 145,277,524		probably null	Het
Trim26	C	T	17: 36,856,218	A267V	probably benign	Het
Trpm1	T	G	7: 64,268,478	F522C	possibly damaging	Het
Uggt1	T	C	1: 36,234,916	I29V	probably benign	Het
Unc5d	C	T	8: 28,666,792	M808I	probably benign	Het
Vmn2r108	T	A	17: 20,463,109	D611V	possibly damaging	Het
Vps13a	A	C	19: 16,687,170	Y1436*	probably null	Het
Wdfy3	C	T	5: 101,872,965	R2491Q	possibly damaging	Het
Zfp518a	G	T	19: 40,912,781	V385F	probably benign	Het
Zfp541	C	T	7: 16,095,526	A1222V	probably benign	Het
Zfp709	TCGACG	TCG	8: 71,890,708		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
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'- CCAGAAAGCTGCCATCTAGAG -3'
(R):5'- TCATCCAGGACTTGAACTTGC -3'

Sequencing Primer
(F):5'- ATCTAGAGTATCTTCTGCCCAGGG -3'
(R):5'- TTGAACTTGCAAACAATCCTCCTG -3'

Posted On

2018-03-15