Mutagenetix > Incidental Mutation

Incidental Mutation 'R6285:Dennd1a'

508148

Institutional Source

Beutler Lab

Gene Symbol

Dennd1a

Ensembl Gene

ENSMUSG00000035392

Gene Name

DENN domain containing 1A

Synonyms

6030446I19Rik

MMRRC Submission

044455-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R6285 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37689003-38177402 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37742453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 437 (H437Q)

Ref Sequence

ENSEMBL: ENSMUSP00000099848 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102787] [ENSMUST00000136460] [ENSMUST00000140552]

AlphaFold

Q8K382

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102787
AA Change: H437Q

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099848
Gene: ENSMUSG00000035392
AA Change: H437Q

Domain	Start	End	E-Value	Type
uDENN	9	91	1.44e-26	SMART
DENN	92	273	2.09e-73	SMART
dDENN	304	371	1.37e-18	SMART
low complexity region	497	508	N/A	INTRINSIC
low complexity region	689	702	N/A	INTRINSIC
low complexity region	747	761	N/A	INTRINSIC
low complexity region	772	786	N/A	INTRINSIC
low complexity region	801	815	N/A	INTRINSIC
low complexity region	822	856	N/A	INTRINSIC
low complexity region	952	972	N/A	INTRINSIC
low complexity region	991	1004	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136460

SMART Domains

Protein: ENSMUSP00000115527
Gene: ENSMUSG00000035392

Domain	Start	End	E-Value	Type
low complexity region	60	71	N/A	INTRINSIC
low complexity region	102	114	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140552

Meta Mutation Damage Score

0.0699

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.9%

Validation Efficiency

100% (68/68)

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 DENND1A, 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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	A	T	3: 36,136,324 (GRCm39)	M370L	probably benign	Het
Aimp1	A	G	3: 132,373,265 (GRCm39)	M225T	possibly damaging	Het
Atp8a1	T	C	5: 67,824,950 (GRCm39)	I809V	possibly damaging	Het
Bbs10	A	G	10: 111,135,622 (GRCm39)	Y245C	probably damaging	Het
Cabin1	A	T	10: 75,520,157 (GRCm39)	F1572Y	probably damaging	Het
Cd79a	A	G	7: 24,598,772 (GRCm39)	N107S	possibly damaging	Het
Cdc7	G	A	5: 107,130,925 (GRCm39)	A428T	probably benign	Het
Cep290	A	G	10: 100,359,191 (GRCm39)	T974A	probably benign	Het
Cep350	A	T	1: 155,829,120 (GRCm39)	N261K	possibly damaging	Het
Cfap46	T	A	7: 139,241,001 (GRCm39)	D8V	probably damaging	Het
Col6a4	T	C	9: 105,952,185 (GRCm39)	D571G	probably damaging	Het
Cpe	A	C	8: 65,070,645 (GRCm39)	V200G	probably benign	Het
Ctnnd1	C	T	2: 84,444,231 (GRCm39)		probably null	Het
D5Ertd579e	A	C	5: 36,772,921 (GRCm39)	C491W	probably damaging	Het
Dek	A	G	13: 47,252,856 (GRCm39)	I183T	probably damaging	Het
Dido1	C	T	2: 180,302,940 (GRCm39)	A1655T	probably benign	Het
Eva1b	A	G	4: 126,043,278 (GRCm39)	D106G	probably damaging	Het
Evc2	G	T	5: 37,581,923 (GRCm39)	S1189I	possibly damaging	Het
Faap100	A	T	11: 120,267,558 (GRCm39)	L405Q	probably damaging	Het
Fbxw15	T	A	9: 109,386,234 (GRCm39)	M249L	probably benign	Het
Gbp10	A	T	5: 105,366,326 (GRCm39)	L526Q	probably damaging	Het
Gm19402	A	C	10: 77,526,354 (GRCm39)		probably benign	Het
Gm2244	A	G	14: 19,590,865 (GRCm39)	Y141H	probably damaging	Het
Gm4181	A	T	14: 51,870,666 (GRCm39)	N98K	probably damaging	Het
Golga4	C	T	9: 118,387,695 (GRCm39)	R616*	probably null	Het
Gpank1	T	A	17: 35,343,266 (GRCm39)	S226T	probably damaging	Het
Hipk3	T	C	2: 104,301,770 (GRCm39)	M141V	probably damaging	Het
Hoxc11	T	C	15: 102,863,178 (GRCm39)	V73A	probably benign	Het
Igf1r	T	G	7: 67,653,885 (GRCm39)	I141S	possibly damaging	Het
Jak2	T	A	19: 29,273,059 (GRCm39)	F628I	probably benign	Het
Kcp	C	A	6: 29,502,364 (GRCm39)	V227L	probably benign	Het
Knl1	T	G	2: 118,902,422 (GRCm39)	C1374W	probably damaging	Het
Larp6	A	T	9: 60,645,043 (GRCm39)	R394S	probably benign	Het
Lilra5	G	A	7: 4,245,114 (GRCm39)	G253R	probably damaging	Het
Map3k4	A	G	17: 12,482,945 (GRCm39)	S591P	probably damaging	Het
Mdfic2	T	C	6: 98,215,134 (GRCm39)	D163G	probably damaging	Het
Minar2	A	G	18: 59,205,296 (GRCm39)	K28R	probably benign	Het
Mrpl16	T	A	19: 11,750,332 (GRCm39)	I72K	probably damaging	Het
Nol11	C	G	11: 107,071,860 (GRCm39)	R244S	probably benign	Het
Nr2f1	T	C	13: 78,343,782 (GRCm39)	T161A	probably benign	Het
Nrdc	G	T	4: 108,895,203 (GRCm39)	V476F	probably damaging	Het
Or10j7	G	T	1: 173,011,477 (GRCm39)	H175N	probably damaging	Het
Or10z1	A	T	1: 174,078,395 (GRCm39)	S33T	possibly damaging	Het
Or13a22	T	A	7: 140,072,626 (GRCm39)	L25Q	possibly damaging	Het
Or13m2-ps1	A	T	6: 42,777,843 (GRCm39)	H56L	probably benign	Het
P2rx1	A	G	11: 72,898,974 (GRCm39)	I62V	probably benign	Het
Pcdhgc5	A	T	18: 37,953,674 (GRCm39)	Y316F	probably benign	Het
Pecam1	T	C	11: 106,576,065 (GRCm39)	D490G	probably benign	Het
Pfkfb2	A	T	1: 130,635,299 (GRCm39)	Y87*	probably null	Het
Poldip2	A	G	11: 78,408,458 (GRCm39)		probably null	Het
Ppp2r5b	T	A	19: 6,280,566 (GRCm39)	Q304L	probably benign	Het
Pramel26	A	G	4: 143,542,609 (GRCm39)	C4R	probably damaging	Het
Psg26	A	G	7: 18,216,753 (GRCm39)	F29L	probably benign	Het
Ptk6	A	T	2: 180,838,886 (GRCm39)	L289Q	probably null	Het
Ptprt	A	T	2: 161,743,417 (GRCm39)	I508N	possibly damaging	Het
Rasgrp4	T	C	7: 28,847,808 (GRCm39)	F406S	probably damaging	Het
Rspo3	A	G	10: 29,375,926 (GRCm39)		probably null	Het
Septin8	G	T	11: 53,425,594 (GRCm39)		probably null	Het
Sirt2	A	C	7: 28,487,471 (GRCm39)	T345P	probably benign	Het
Slc6a20b	T	C	9: 123,438,161 (GRCm39)	E205G	possibly damaging	Het
Sqstm1	G	A	11: 50,093,418 (GRCm39)	Q327*	probably null	Het
Susd3	T	A	13: 49,390,997 (GRCm39)	S98C	probably damaging	Het
Tada2b	G	A	5: 36,634,186 (GRCm39)	R56W	probably damaging	Het
Tbc1d2	A	T	4: 46,615,045 (GRCm39)	V546E	possibly damaging	Het
Tbx6	A	G	7: 126,380,740 (GRCm39)	Q21R	possibly damaging	Het
Usp24	T	G	4: 106,231,297 (GRCm39)		probably null	Het
Vinac1	T	G	2: 128,879,719 (GRCm39)	T736P	possibly damaging	Het
Vmn2r103	A	G	17: 20,032,406 (GRCm39)	T727A	probably benign	Het
Wdr48	C	T	9: 119,749,676 (GRCm39)	T531M	probably damaging	Het

Other mutations in Dennd1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Dennd1a	APN	2	38,133,454 (GRCm39)	nonsense	probably null
IGL00490:Dennd1a	APN	2	37,691,164 (GRCm39)	missense	probably damaging	1.00
IGL00839:Dennd1a	APN	2	37,706,994 (GRCm39)	missense	probably benign	0.30
IGL01065:Dennd1a	APN	2	37,734,917 (GRCm39)	missense	probably benign	0.02
IGL01621:Dennd1a	APN	2	37,734,821 (GRCm39)	missense	probably damaging	1.00
IGL01792:Dennd1a	APN	2	38,016,592 (GRCm39)	missense	probably damaging	1.00
IGL01799:Dennd1a	APN	2	37,938,754 (GRCm39)	missense	probably damaging	1.00
IGL02516:Dennd1a	APN	2	37,742,406 (GRCm39)	critical splice donor site	probably null
contract	UTSW	2	37,742,453 (GRCm39)	missense	possibly damaging	0.89
R0018:Dennd1a	UTSW	2	37,748,472 (GRCm39)	missense	possibly damaging	0.72
R0018:Dennd1a	UTSW	2	37,748,472 (GRCm39)	missense	possibly damaging	0.72
R0144:Dennd1a	UTSW	2	38,016,652 (GRCm39)	missense	probably damaging	0.96
R0784:Dennd1a	UTSW	2	37,911,426 (GRCm39)	missense	probably damaging	1.00
R1199:Dennd1a	UTSW	2	37,851,728 (GRCm39)	missense	probably damaging	0.99
R1439:Dennd1a	UTSW	2	37,933,412 (GRCm39)	missense	probably damaging	1.00
R1563:Dennd1a	UTSW	2	37,748,441 (GRCm39)	missense	probably damaging	1.00
R1608:Dennd1a	UTSW	2	37,742,446 (GRCm39)	missense	probably benign	0.18
R1720:Dennd1a	UTSW	2	37,690,209 (GRCm39)	nonsense	probably null
R1967:Dennd1a	UTSW	2	37,734,845 (GRCm39)	missense	probably benign
R2570:Dennd1a	UTSW	2	37,734,795 (GRCm39)	missense	probably damaging	1.00
R3886:Dennd1a	UTSW	2	37,748,089 (GRCm39)	missense	possibly damaging	0.89
R4464:Dennd1a	UTSW	2	38,133,402 (GRCm39)	splice site	probably benign
R4890:Dennd1a	UTSW	2	38,066,238 (GRCm39)	intron	probably benign
R5395:Dennd1a	UTSW	2	37,692,140 (GRCm39)	missense	probably damaging	1.00
R5652:Dennd1a	UTSW	2	37,691,138 (GRCm39)	missense	probably benign	0.00
R5882:Dennd1a	UTSW	2	37,851,675 (GRCm39)	missense	probably damaging	1.00
R6520:Dennd1a	UTSW	2	37,851,759 (GRCm39)	splice site	probably null
R6934:Dennd1a	UTSW	2	37,691,225 (GRCm39)	missense	possibly damaging	0.62
R7053:Dennd1a	UTSW	2	37,851,666 (GRCm39)	missense	probably damaging	1.00
R7109:Dennd1a	UTSW	2	37,938,804 (GRCm39)	missense	probably damaging	1.00
R7204:Dennd1a	UTSW	2	37,929,215 (GRCm39)	missense	probably damaging	1.00
R7235:Dennd1a	UTSW	2	37,691,073 (GRCm39)	missense	probably benign
R7408:Dennd1a	UTSW	2	37,742,184 (GRCm39)	splice site	probably null
R7446:Dennd1a	UTSW	2	37,706,991 (GRCm39)	missense	possibly damaging	0.89
R7579:Dennd1a	UTSW	2	37,748,444 (GRCm39)	missense	probably damaging	0.99
R7645:Dennd1a	UTSW	2	37,911,375 (GRCm39)	missense	probably damaging	1.00
R7661:Dennd1a	UTSW	2	37,734,841 (GRCm39)	missense	probably benign
R8132:Dennd1a	UTSW	2	37,748,072 (GRCm39)	missense	probably damaging	1.00
R8305:Dennd1a	UTSW	2	37,748,093 (GRCm39)	missense	probably damaging	1.00
R8369:Dennd1a	UTSW	2	37,938,766 (GRCm39)	missense	probably damaging	1.00
R8418:Dennd1a	UTSW	2	37,748,403 (GRCm39)	missense	probably benign	0.36
R8438:Dennd1a	UTSW	2	37,746,150 (GRCm39)	missense	probably benign	0.08
R8544:Dennd1a	UTSW	2	37,872,920 (GRCm39)	splice site	probably null
R8997:Dennd1a	UTSW	2	37,690,497 (GRCm39)	missense	probably benign	0.14
R9052:Dennd1a	UTSW	2	37,911,463 (GRCm39)	missense	probably damaging	1.00
R9087:Dennd1a	UTSW	2	37,911,366 (GRCm39)	critical splice donor site	probably null
R9096:Dennd1a	UTSW	2	37,690,077 (GRCm39)	missense	probably damaging	1.00
R9346:Dennd1a	UTSW	2	37,911,447 (GRCm39)	missense	probably benign	0.12
Z1088:Dennd1a	UTSW	2	37,690,704 (GRCm39)	missense	probably benign
Z1177:Dennd1a	UTSW	2	37,690,269 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGACAGCTGGTAATGCATTTTGAAG -3'
(R):5'- AATCTCTGCCGCTCCTTTAAGG -3'

Sequencing Primer
(F):5'- GAAGTGTGCTAACAACACTGTATC -3'
(R):5'- GAGAAGGTGATTCATGGTG -3'

Posted On

2018-03-15