Mutagenetix > Incidental Mutation

Incidental Mutation 'R5395:Dennd1a'

426097

Institutional Source

Beutler Lab

Gene Symbol

Dennd1a

Ensembl Gene

ENSMUSG00000035392

Gene Name

DENN domain containing 1A

Synonyms

6030446I19Rik

MMRRC Submission

042967-MU

Accession Numbers

Essential gene?

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

Stock #

R5395 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37689003-38177402 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37692140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 181 (F181I)

Ref Sequence

ENSEMBL: ENSMUSP00000115527 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050372] [ENSMUST00000102787] [ENSMUST00000136460]

AlphaFold

Q8K382

Predicted Effect

probably benign
Transcript: ENSMUST00000050372

SMART Domains

Protein: ENSMUSP00000058007
Gene: ENSMUSG00000035403

Domain	Start	End	E-Value	Type
EGF	74	110	1.92e-7	SMART
EGF_CA	112	148	1.69e-12	SMART
EGF_CA	150	186	3.99e-14	SMART
EGF_CA	188	225	8.9e-12	SMART
EGF_CA	227	263	3.79e-6	SMART
EGF	268	322	1.32e-5	SMART
EGF_CA	324	360	5.96e-13	SMART
EGF_CA	362	398	2.54e-7	SMART
EGF	403	440	2.45e0	SMART
low complexity region	446	457	N/A	INTRINSIC
LamG	461	592	1.18e-6	SMART
EGF	612	645	4.59e-5	SMART
LamG	671	778	4.45e-2	SMART
EGF	813	846	5.2e-4	SMART
LamG	893	1019	1.68e-1	SMART
EGF	1056	1089	9.55e-3	SMART
EGF	1094	1127	9.85e-5	SMART
EGF	1134	1168	1.91e1	SMART
EGF	1173	1206	3.73e-5	SMART
transmembrane domain	1222	1244	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000102787
AA Change: F575I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099848
Gene: ENSMUSG00000035392
AA Change: F575I

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 damaging
Transcript: ENSMUST00000136460
AA Change: F181I

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

SMART Domains

Protein: ENSMUSP00000115527
Gene: ENSMUSG00000035392
AA Change: F181I

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
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 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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,874,590 (GRCm39)	I268V	probably benign	Het
Actn1	T	A	12: 80,217,477 (GRCm39)	I782F	probably benign	Het
Adamdec1	A	C	14: 68,808,352 (GRCm39)	S333A	probably benign	Het
Agbl5	C	A	5: 31,047,682 (GRCm39)	T58N	probably damaging	Het
Apoo-ps	T	A	13: 107,550,993 (GRCm39)		noncoding transcript	Het
Arhgef10l	T	C	4: 140,297,601 (GRCm39)	N277S	probably benign	Het
Ascc2	A	G	11: 4,609,273 (GRCm39)	E241G	possibly damaging	Het
Atp13a4	A	T	16: 29,239,706 (GRCm39)	Y835*	probably null	Het
Atp13a4	A	G	16: 29,275,422 (GRCm39)	V354A	possibly damaging	Het
Bcas3	T	C	11: 85,716,075 (GRCm39)	S426P	probably damaging	Het
Birc2	T	C	9: 7,861,175 (GRCm39)	R48G	probably damaging	Het
Cacna2d4	T	C	6: 119,248,379 (GRCm39)	S397P	possibly damaging	Het
Ccng2	T	C	5: 93,417,257 (GRCm39)	M91T	possibly damaging	Het
Clk3	G	A	9: 57,660,622 (GRCm39)	T473M	probably damaging	Het
Cog2	T	A	8: 125,271,960 (GRCm39)	H491Q	probably benign	Het
Cyp4f40	C	T	17: 32,888,827 (GRCm39)	T202I	probably benign	Het
Fcrl6	G	T	1: 172,426,287 (GRCm39)	A170D	possibly damaging	Het
Fev	T	C	1: 74,921,823 (GRCm39)		probably null	Het
Flnb	A	G	14: 7,883,881 (GRCm38)	N369S	probably benign	Het
Flt3	A	G	5: 147,291,633 (GRCm39)	F606L	probably damaging	Het
Gdf9	T	C	11: 53,324,624 (GRCm39)	V131A	probably benign	Het
Gdnf	T	A	15: 7,864,165 (GRCm39)	L192Q	probably damaging	Het
Gjc2	A	T	11: 59,068,315 (GRCm39)	C56S	possibly damaging	Het
Gli3	T	C	13: 15,889,535 (GRCm39)	F550L	probably damaging	Het
Gm1110	T	C	9: 26,800,928 (GRCm39)	E422G	probably benign	Het
Gm14325	G	A	2: 177,474,777 (GRCm39)	H102Y	possibly damaging	Het
Gnb2	A	G	5: 137,526,788 (GRCm39)	S334P	probably damaging	Het
Icam2	A	T	11: 106,273,299 (GRCm39)		probably null	Het
Inca1	C	T	11: 70,581,264 (GRCm39)		probably null	Het
Itgb8	A	C	12: 119,134,476 (GRCm39)	C530W	probably damaging	Het
Lrp1	T	C	10: 127,431,166 (GRCm39)	D332G	probably damaging	Het
Ly75	A	T	2: 60,195,455 (GRCm39)	N234K	probably benign	Het
Mcm5	G	A	8: 75,849,654 (GRCm39)	S542N	probably benign	Het
Mcm9	A	T	10: 53,414,788 (GRCm39)	N97K	possibly damaging	Het
Morc2a	G	A	11: 3,638,232 (GRCm39)	R986H	possibly damaging	Het
Neu2	T	A	1: 87,524,397 (GRCm39)		probably null	Het
Nfatc1	G	A	18: 80,679,235 (GRCm39)	P718S	possibly damaging	Het
Nol6	G	A	4: 41,118,392 (GRCm39)		probably benign	Het
Or10j7	A	T	1: 173,011,247 (GRCm39)	Y251*	probably null	Het
Otogl	T	C	10: 107,652,999 (GRCm39)	N1118D	probably benign	Het
Pcdh15	T	A	10: 74,021,119 (GRCm39)	I111K	probably damaging	Het
Phkb	A	G	8: 86,744,097 (GRCm39)	D582G	probably damaging	Het
Piwil2	G	T	14: 70,632,846 (GRCm39)	N575K	probably benign	Het
Pou4f2	T	A	8: 79,161,701 (GRCm39)	I301F	probably damaging	Het
Prkd1	T	C	12: 50,438,215 (GRCm39)	N409S	probably damaging	Het
Ptpn21	T	G	12: 98,681,376 (GRCm39)	K86T	probably damaging	Het
Raly	T	A	2: 154,705,927 (GRCm39)		probably null	Het
Rangap1	A	G	15: 81,590,647 (GRCm39)	F482L	probably benign	Het
Rapgef1	T	A	2: 29,627,977 (GRCm39)	N1052K	probably damaging	Het
Rnf169	A	T	7: 99,584,367 (GRCm39)		probably null	Het
Sdr16c5	T	C	4: 4,016,277 (GRCm39)	S50G	probably benign	Het
Sin3a	G	A	9: 57,012,957 (GRCm39)	R612H	probably damaging	Het
Six6	T	A	12: 72,988,475 (GRCm39)	L216*	probably null	Het
Slc20a1	A	T	2: 129,050,257 (GRCm39)	N472Y	probably damaging	Het
Slc35d1	C	T	4: 103,068,572 (GRCm39)		probably null	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slc7a8	C	A	14: 54,970,734 (GRCm39)	G306*	probably null	Het
Slc9a8	T	A	2: 167,309,642 (GRCm39)	F335L	probably damaging	Het
Smyd1	T	G	6: 71,196,374 (GRCm39)	K338T	possibly damaging	Het
Snd1	T	A	6: 28,526,183 (GRCm39)	V187E	probably damaging	Het
Spag9	T	G	11: 93,982,577 (GRCm39)		probably null	Het
Tnfsf9	C	A	17: 57,412,592 (GRCm39)	T54K	probably benign	Het
Trim24	T	G	6: 37,934,679 (GRCm39)	V798G	probably damaging	Het
Tyr	C	A	7: 87,121,698 (GRCm39)	A365S	probably damaging	Het
Usp43	T	A	11: 67,788,184 (GRCm39)		probably null	Het
Vmn2r55	T	C	7: 12,385,874 (GRCm39)	D702G	probably damaging	Het
Vmn2r72	A	G	7: 85,400,105 (GRCm39)	S315P	possibly damaging	Het
Wdr64	T	A	1: 175,583,164 (GRCm39)	F367I	probably damaging	Het
Zc3h7b	G	A	15: 81,656,702 (GRCm39)	R173K	possibly damaging	Het
Zfp493	T	A	13: 67,931,965 (GRCm39)	C21*	probably null	Het
Zfp825	T	C	13: 74,628,665 (GRCm39)	T284A	possibly damaging	Het
Zpbp2	T	A	11: 98,449,039 (GRCm39)	V275D	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
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
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'- GGGATGTGATGTCCTATCTCCC -3'
(R):5'- TCCCTAGAAGAAAATCCAGCTGG -3'

Sequencing Primer
(F):5'- TTCCACTGTGACTAGGAGGAC -3'
(R):5'- GAAAATCCAGCTGGCTTTGTC -3'

Posted On

2016-08-04