Mutagenetix > Incidental Mutations

Incidental Mutation 'R5652:Dennd1a'

441463

Institutional Source

Beutler Lab

Gene Symbol

Dennd1a

Ensembl Gene

ENSMUSG00000035392

Gene Name

DENN/MADD domain containing 1A

Synonyms

6030446I19Rik

MMRRC Submission

043298-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

R5652 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37798991-38287390 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37801126 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 260 (I260T)

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 benign
Transcript: ENSMUST00000102787
AA Change: I654T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099848
Gene: ENSMUSG00000035392
AA Change: I654T

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
AA Change: I260T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000115527
Gene: ENSMUSG00000035392
AA Change: I260T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137693

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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 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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530077C05Rik	A	G	9: 22,424,490	T135A	probably benign	Het
Abcc4	T	C	14: 118,618,927	I334V	probably benign	Het
Adamts5	C	T	16: 85,899,268	A334T	probably damaging	Het
Adcy4	G	C	14: 55,773,443	F672L	probably benign	Het
Adgrl1	A	G	8: 83,929,815	Y254C	probably damaging	Het
Adnp2	A	G	18: 80,130,850	S115P	probably damaging	Het
Aox1	A	T	1: 58,095,197	S1110C	probably damaging	Het
Arhgap44	G	T	11: 65,024,238	N401K	probably damaging	Het
Atp23	A	T	10: 126,899,625	N63K	possibly damaging	Het
Atp8b1	G	C	18: 64,531,382	I1238M	probably benign	Het
Ccdc38	A	T	10: 93,555,586		probably null	Het
Celsr2	T	C	3: 108,396,735	D2364G	probably null	Het
Celsr3	G	A	9: 108,838,472	D2116N	probably benign	Het
Cenpf	A	G	1: 189,657,082	S1518P	probably damaging	Het
Clcn3	C	A	8: 60,919,353	V758L	possibly damaging	Het
Ctsf	T	C	19: 4,858,477	L288P	probably damaging	Het
Cwh43	A	G	5: 73,418,141	T334A	probably damaging	Het
Cyp3a57	A	T	5: 145,349,325		probably null	Het
Ddr1	C	T	17: 35,686,508	A531T	probably benign	Het
Dgkh	T	C	14: 78,627,761	H47R	probably damaging	Het
Dync1h1	G	A	12: 110,665,988	V4514I	possibly damaging	Het
Dync2h1	A	T	9: 7,116,638	M66K	probably benign	Het
Fam186a	T	G	15: 99,945,372	Y997S	possibly damaging	Het
Fam8a1	T	A	13: 46,674,338	L334H	probably damaging	Het
Fat4	C	T	3: 39,002,968	T4271I	probably damaging	Het
Fdxacb1	T	A	9: 50,768,405	L41Q	probably damaging	Het
Fgfr2	C	T	7: 130,261,863	V18M	probably damaging	Het
Gpa33	A	C	1: 166,165,145		probably null	Het
Gpr1	A	G	1: 63,183,467	V203A	probably benign	Het
Gpr107	A	G	2: 31,185,589	I371V	probably benign	Het
Hectd2	T	C	19: 36,604,320	V420A	probably damaging	Het
Hist1h1t	A	G	13: 23,696,236	K124R	probably benign	Het
Iglc3	A	G	16: 19,065,670		probably benign	Het
Igtp	A	G	11: 58,206,629	T209A	probably benign	Het
Itgb7	T	A	15: 102,216,203	N793I	possibly damaging	Het
Kansl1	G	A	11: 104,338,166	R870C	probably damaging	Het
Kcnh6	C	T	11: 106,008,985	R27C	probably damaging	Het
Kif2b	T	A	11: 91,575,830	E542D	possibly damaging	Het
Klhl24	C	A	16: 20,120,247	Y517*	probably null	Het
Klhl25	A	G	7: 75,866,147	D267G	probably benign	Het
Krr1	C	A	10: 111,977,383	F195L	possibly damaging	Het
Lsr	C	T	7: 30,959,031	G95D	probably damaging	Het
Med15	A	T	16: 17,655,191	I504N	probably damaging	Het
Mug1	A	G	6: 121,840,181	R70G	probably benign	Het
Mypn	T	A	10: 63,135,801	Q820L	probably damaging	Het
Nlrp4f	A	T	13: 65,182,989	H863Q	probably benign	Het
Nudt9	G	A	5: 104,059,780	V213M	probably benign	Het
Olfr177	A	G	16: 58,872,484	L222P	probably damaging	Het
Olfr828	A	G	9: 18,815,626	S223P	probably damaging	Het
Olfr891	T	C	9: 38,180,815	T3A	probably benign	Het
Olfr987	T	A	2: 85,331,373	N175I	probably damaging	Het
Orc2	A	G	1: 58,466,072	F475L	probably damaging	Het
Oxa1l	T	A	14: 54,366,832	L183*	probably null	Het
Pcdh20	T	C	14: 88,467,324	T847A	probably damaging	Het
Pcdha6	G	A	18: 36,968,836		probably null	Het
Pip5k1a	T	C	3: 95,067,439	N376S	probably benign	Het
Pkd1l1	T	C	11: 8,909,889	E573G	probably benign	Het
Pkp1	T	A	1: 135,882,597		probably null	Het
Pum1	T	C	4: 130,764,127	I643T	possibly damaging	Het
Rapgef3	A	G	15: 97,758,437	S328P	probably benign	Het
Raver1	A	G	9: 21,090,312	V75A	probably damaging	Het
Rbm28	T	C	6: 29,135,409	E511G	probably damaging	Het
Satb1	T	A	17: 51,742,795	T544S	probably damaging	Het
Sdcbp2	T	C	2: 151,589,215	V248A	probably benign	Het
Sema7a	A	G	9: 57,960,659	D506G	probably damaging	Het
Sept8	A	G	11: 53,537,217	E286G	probably damaging	Het
Sh3pxd2b	A	G	11: 32,422,812	I660V	probably damaging	Het
Stk38l	G	T	6: 146,773,328	D364Y	possibly damaging	Het
Sycp2	T	C	2: 178,358,705		probably null	Het
Tbc1d31	T	A	15: 57,951,666	S580T	probably damaging	Het
Tcerg1l	G	A	7: 138,280,046	R305C	probably damaging	Het
Tek	T	A	4: 94,855,324	Y859N	probably damaging	Het
Tjp1	A	T	7: 65,312,443		probably null	Het
Tmem132d	A	T	5: 127,784,795	I754N	possibly damaging	Het
Togaram1	G	A	12: 65,016,650	V1580I	probably benign	Het
Troap	A	G	15: 99,082,264	T442A	probably benign	Het
Ttn	A	T	2: 76,881,753		probably benign	Het
Twnk	T	A	19: 45,007,293	V55E	possibly damaging	Het
Uggt1	A	T	1: 36,216,153	Y225*	probably null	Het
Vmn2r109	A	G	17: 20,540,519	*859Q	probably null	Het
Vmn2r17	A	T	5: 109,429,564	I494L	probably benign	Het
Vmn2r88	T	C	14: 51,418,572	V746A	probably damaging	Het
Yae1d1	A	G	13: 17,991,706	L57P	probably damaging	Het
Zfp26	G	A	9: 20,437,841	R476*	probably null	Het
Zmynd8	T	A	2: 165,807,698	Q816L	probably damaging	Het
Zswim8	A	T	14: 20,713,427	H414L	possibly damaging	Het

Other mutations in Dennd1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Dennd1a	APN	2	38243442	nonsense	probably null
IGL00490:Dennd1a	APN	2	37801152	missense	probably damaging	1.00
IGL00839:Dennd1a	APN	2	37816982	missense	probably benign	0.30
IGL01065:Dennd1a	APN	2	37844905	missense	probably benign	0.02
IGL01621:Dennd1a	APN	2	37844809	missense	probably damaging	1.00
IGL01792:Dennd1a	APN	2	38126580	missense	probably damaging	1.00
IGL01799:Dennd1a	APN	2	38048742	missense	probably damaging	1.00
IGL02516:Dennd1a	APN	2	37852394	critical splice donor site	probably null
contract	UTSW	2	37852441	missense	possibly damaging	0.89
R0018:Dennd1a	UTSW	2	37858460	missense	possibly damaging	0.72
R0018:Dennd1a	UTSW	2	37858460	missense	possibly damaging	0.72
R0144:Dennd1a	UTSW	2	38126640	missense	probably damaging	0.96
R0784:Dennd1a	UTSW	2	38021414	missense	probably damaging	1.00
R1199:Dennd1a	UTSW	2	37961716	missense	probably damaging	0.99
R1439:Dennd1a	UTSW	2	38043400	missense	probably damaging	1.00
R1563:Dennd1a	UTSW	2	37858429	missense	probably damaging	1.00
R1608:Dennd1a	UTSW	2	37852434	missense	probably benign	0.18
R1720:Dennd1a	UTSW	2	37800197	nonsense	probably null
R1967:Dennd1a	UTSW	2	37844833	missense	probably benign
R2570:Dennd1a	UTSW	2	37844783	missense	probably damaging	1.00
R3886:Dennd1a	UTSW	2	37858077	missense	possibly damaging	0.89
R4464:Dennd1a	UTSW	2	38243390	splice site	probably benign
R4890:Dennd1a	UTSW	2	38176226	intron	probably benign
R5395:Dennd1a	UTSW	2	37802128	missense	probably damaging	1.00
R5882:Dennd1a	UTSW	2	37961663	missense	probably damaging	1.00
R6285:Dennd1a	UTSW	2	37852441	missense	possibly damaging	0.89
R6520:Dennd1a	UTSW	2	37961747	splice site	probably null
R6934:Dennd1a	UTSW	2	37801213	missense	possibly damaging	0.62
R7053:Dennd1a	UTSW	2	37961654	missense	probably damaging	1.00
R7109:Dennd1a	UTSW	2	38048792	missense	probably damaging	1.00
R7204:Dennd1a	UTSW	2	38039203	missense	probably damaging	1.00
R7235:Dennd1a	UTSW	2	37801061	missense	probably benign
R7408:Dennd1a	UTSW	2	37852172	splice site	probably null
R7446:Dennd1a	UTSW	2	37816979	missense	possibly damaging	0.89
R7579:Dennd1a	UTSW	2	37858432	missense	probably damaging	0.99
R7645:Dennd1a	UTSW	2	38021363	missense	probably damaging	1.00
R7661:Dennd1a	UTSW	2	37844829	missense	probably benign
R8132:Dennd1a	UTSW	2	37858060	missense	probably damaging	1.00
R8305:Dennd1a	UTSW	2	37858081	missense	probably damaging	1.00
R8369:Dennd1a	UTSW	2	38048754	missense	probably damaging	1.00
R8418:Dennd1a	UTSW	2	37858391	missense	probably benign	0.36
R8438:Dennd1a	UTSW	2	37856138	missense	probably benign	0.08
R8544:Dennd1a	UTSW	2	37982908	splice site	probably null
R8997:Dennd1a	UTSW	2	37800485	missense	probably benign	0.14
R9052:Dennd1a	UTSW	2	38021451	missense	probably damaging	1.00
R9087:Dennd1a	UTSW	2	38021354	critical splice donor site	probably null
R9096:Dennd1a	UTSW	2	37800065	missense	probably damaging	1.00
R9346:Dennd1a	UTSW	2	38021435	missense	probably benign	0.12
Z1088:Dennd1a	UTSW	2	37800692	missense	probably benign
Z1177:Dennd1a	UTSW	2	37800257	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCTGAAGAGAAGTCACCAAGTGG -3'
(R):5'- TGGGCTAACCAGTGGTCATC -3'

Sequencing Primer
(F):5'- TGGTGGAGGCACGATGC -3'
(R):5'- GTGGTCATCACTTCCTCCC -3'

Posted On

2016-11-08