Mutagenetix > Incidental Mutation

Incidental Mutation 'R7408:Dennd1a'

596142

Institutional Source

Beutler Lab

Gene Symbol

Dennd1a

Ensembl Gene

ENSMUSG00000035392

Gene Name

DENN domain containing 1A

Synonyms

6030446I19Rik

MMRRC Submission

045489-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R7408 (G1)

Quality Score

78.0075

Status

Validated

Chromosome

Chromosomal Location

37689003-38177402 bp(-) (GRCm39)

Type of Mutation

splice site (224 bp from exon)

DNA Base Change (assembly)

G to A at 37742184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115527 (fasta)

Gene Model

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

AlphaFold

Q8K382

Predicted Effect

probably null
Transcript: ENSMUST00000102787

SMART Domains

Protein: ENSMUSP00000099848
Gene: ENSMUSG00000035392

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 null
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

0.9755

Coding Region Coverage

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

Validation Efficiency

100% (71/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agfg1	T	C	1: 82,860,030 (GRCm39)	F299S	probably damaging	Het
Arhgap32	A	T	9: 32,157,220 (GRCm39)	E72D	probably benign	Het
Arid1a	G	T	4: 133,408,391 (GRCm39)	Q1654K	unknown	Het
Atp6v1f	A	C	6: 29,470,194 (GRCm39)	H96P	probably damaging	Het
Cast	A	G	13: 74,887,960 (GRCm39)	V161A	probably damaging	Het
Ccdc186	A	T	19: 56,796,610 (GRCm39)	C320S	probably damaging	Het
Cgn	T	A	3: 94,670,362 (GRCm39)	K1031*	probably null	Het
Cnot10	T	C	9: 114,460,894 (GRCm39)	N92S	probably benign	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Cstf2t	T	C	19: 31,060,593 (GRCm39)	V43A	possibly damaging	Het
D930020B18Rik	T	C	10: 121,525,739 (GRCm39)	L547P	probably damaging	Het
Dtnb	T	A	12: 3,694,272 (GRCm39)		probably null	Het
Entpd1	A	G	19: 40,727,309 (GRCm39)	N486D	possibly damaging	Het
Fes	G	A	7: 80,028,410 (GRCm39)	R736C	probably damaging	Het
Galr1	T	G	18: 82,411,990 (GRCm39)	Y292S	probably damaging	Het
Gda	T	A	19: 21,405,988 (GRCm39)	D80V	probably damaging	Het
Ghr	A	G	15: 3,377,054 (GRCm39)	C56R	probably benign	Het
Golgb1	A	G	16: 36,718,909 (GRCm39)	T313A	probably damaging	Het
Gpaa1	A	T	15: 76,217,193 (GRCm39)	D236V	probably damaging	Het
Gsdmc	A	G	15: 63,676,315 (GRCm39)	S43P	probably benign	Het
Gsdmd	A	G	15: 75,738,202 (GRCm39)	E295G	probably damaging	Het
Htatip2	A	G	7: 49,409,534 (GRCm39)	K96R	probably benign	Het
Insm1	T	A	2: 146,064,711 (GRCm39)	F176I	probably benign	Het
Itih1	T	C	14: 30,665,117 (GRCm39)	E36G	probably benign	Het
Jak1	A	G	4: 101,032,379 (GRCm39)	V409A	probably damaging	Het
Knl1	A	G	2: 118,901,073 (GRCm39)	I925V	possibly damaging	Het
Lcmt2	A	G	2: 120,969,185 (GRCm39)	S413P	probably benign	Het
Lmo7	T	C	14: 102,118,389 (GRCm39)	S205P	probably damaging	Het
Lrch3	C	A	16: 32,807,113 (GRCm39)	S462*	probably null	Het
Lrrtm2	T	C	18: 35,346,688 (GRCm39)	I205V	possibly damaging	Het
Mark3	T	G	12: 111,600,223 (GRCm39)	N479K	probably damaging	Het
Mrpl19	C	T	6: 81,942,793 (GRCm39)	G39D	possibly damaging	Het
Msh4	A	G	3: 153,582,382 (GRCm39)	Y497H	probably benign	Het
Msl2	T	A	9: 100,979,316 (GRCm39)	D563E	probably benign	Het
Mta1	G	A	12: 113,095,088 (GRCm39)		probably null	Het
Nalcn	T	A	14: 123,529,272 (GRCm39)	Q1401L	probably benign	Het
Ncapg	T	C	5: 45,853,135 (GRCm39)	L867P	probably benign	Het
Nkapl	T	C	13: 21,652,013 (GRCm39)	D200G	unknown	Het
Nos1	A	C	5: 118,005,583 (GRCm39)	E101A	probably damaging	Het
Npat	T	C	9: 53,481,216 (GRCm39)	S1008P	probably damaging	Het
Ntng1	A	G	3: 109,760,398 (GRCm39)	I358T	probably benign	Het
Or11h6	A	G	14: 50,879,852 (GRCm39)	E32G	probably benign	Het
Or13p4	C	T	4: 118,546,859 (GRCm39)	M263I	probably damaging	Het
Or2d2b	A	G	7: 106,705,274 (GRCm39)	S265P	probably benign	Het
Or4b1	T	A	2: 89,980,188 (GRCm39)	H54L	probably benign	Het
Or6c88	A	G	10: 129,406,493 (GRCm39)		probably benign	Het
Pex1	A	G	5: 3,680,222 (GRCm39)	D948G	probably damaging	Het
Pkd1l2	A	T	8: 117,755,218 (GRCm39)	I1660N	possibly damaging	Het
Pkp2	T	A	16: 16,079,537 (GRCm39)	Y540N	possibly damaging	Het
Pkp4	T	C	2: 59,142,110 (GRCm39)	L471P	probably damaging	Het
Plekhm3	A	T	1: 64,977,143 (GRCm39)	M109K	probably benign	Het
Plekhn1	T	C	4: 156,318,418 (GRCm39)	N68S	probably benign	Het
Pramel7	T	A	2: 87,321,189 (GRCm39)	D282V	possibly damaging	Het
Pxdn	T	C	12: 30,040,944 (GRCm39)	Y407H	probably benign	Het
Rab3ip	T	C	10: 116,773,546 (GRCm39)	D89G	possibly damaging	Het
Rad17	G	A	13: 100,766,019 (GRCm39)	Q370*	probably null	Het
Robo4	T	C	9: 37,322,277 (GRCm39)	C751R	probably benign	Het
Sez6	A	G	11: 77,844,356 (GRCm39)	T60A	probably damaging	Het
Socs4	A	G	14: 47,527,296 (GRCm39)	H77R	probably benign	Het
Srrm3	T	A	5: 135,881,060 (GRCm39)	M120K	probably benign	Het
Steap4	A	T	5: 8,028,453 (GRCm39)	I344F	probably benign	Het
Stk36	T	A	1: 74,672,725 (GRCm39)	F989Y	probably damaging	Het
Toporsl	A	T	4: 52,612,108 (GRCm39)	Q667L	probably benign	Het
Tspan17	T	C	13: 54,937,466 (GRCm39)	F20S	probably benign	Het
Tubgcp3	G	A	8: 12,711,359 (GRCm39)	Q65*	probably null	Het
Ush2a	A	T	1: 188,465,726 (GRCm39)	I2765F	probably benign	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdfy4	A	G	14: 32,800,264 (GRCm39)	V1954A		Het
Xrn2	T	A	2: 146,884,017 (GRCm39)		probably null	Het
Zfp687	C	T	3: 94,914,841 (GRCm39)	R1220H	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
R6285:Dennd1a	UTSW	2	37,742,453 (GRCm39)	missense	possibly damaging	0.89
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
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'- TGTGTATCTGCTTGGAAACAGG -3'
(R):5'- CACCGTGTATGAAATGCGTGG -3'

Sequencing Primer
(F):5'- AAACAGGGTGGTCCTTTCTC -3'
(R):5'- CGTGGCCACAAAAAAGTAG -3'

Posted On

2019-11-21