Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00089:Dennd1a'

1897

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dennd1a

Ensembl Gene

ENSMUSG00000035392

Gene Name

DENN domain containing 1A

Synonyms

6030446I19Rik

Accession Numbers

Essential gene?

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

Stock #

IGL00089

Quality Score

Status

Chromosome

Chromosomal Location

37689003-38177402 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 38133454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 16 (Y16*)

Ref Sequence

ENSEMBL: ENSMUSP00000116723 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102787] [ENSMUST00000130472] [ENSMUST00000140552] [ENSMUST00000142813] [ENSMUST00000143095] [ENSMUST00000150896]

AlphaFold

Q8K382

Predicted Effect

probably null
Transcript: ENSMUST00000102787
AA Change: Y16*

SMART Domains

Protein: ENSMUSP00000099848
Gene: ENSMUSG00000035392
AA Change: Y16*

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

noncoding transcript
Transcript: ENSMUST00000128492

Predicted Effect

probably null
Transcript: ENSMUST00000130472
AA Change: Y16*

SMART Domains

Protein: ENSMUSP00000119892
Gene: ENSMUSG00000035392
AA Change: Y16*

Domain	Start	End	E-Value	Type
Blast:uDENN	9	64	4e-20	BLAST
PDB:3TW8\|C	44	105	3e-24	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136116

Predicted Effect

probably null
Transcript: ENSMUST00000140552
AA Change: Y16*

Predicted Effect

probably null
Transcript: ENSMUST00000142813
AA Change: Y16*

SMART Domains

Protein: ENSMUSP00000116396
Gene: ENSMUSG00000035392
AA Change: Y16*

Domain	Start	End	E-Value	Type
Blast:uDENN	9	29	2e-6	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000143095
AA Change: Y16*

Predicted Effect

probably null
Transcript: ENSMUST00000150896
AA Change: Y16*

SMART Domains

Protein: ENSMUSP00000116723
Gene: ENSMUSG00000035392
AA Change: Y16*

Domain	Start	End	E-Value	Type
uDENN	9	91	1.44e-26	SMART

Coding Region Coverage

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	C	5: 138,645,854 (GRCm39)	S580P	probably damaging	Het
Abca12	T	A	1: 71,342,700 (GRCm39)	I927F	possibly damaging	Het
Abca8a	A	G	11: 109,941,765 (GRCm39)	V1168A	possibly damaging	Het
Abcc1	T	A	16: 14,278,847 (GRCm39)	N1052K	probably benign	Het
Adamts13	C	A	2: 26,895,373 (GRCm39)	Q1155K	probably benign	Het
Adgre4	A	T	17: 56,098,915 (GRCm39)		probably benign	Het
Ahsa2	T	C	11: 23,446,837 (GRCm39)	E42G	probably damaging	Het
Ankk1	T	G	9: 49,333,200 (GRCm39)	I95L	probably benign	Het
Anpep	A	T	7: 79,491,734 (GRCm39)	L89Q	probably damaging	Het
Arl5a	T	C	2: 52,306,083 (GRCm39)	N83S	probably benign	Het
Atp11b	A	G	3: 35,863,525 (GRCm39)		probably null	Het
Atp6v0a2	T	C	5: 124,798,841 (GRCm39)	F849L	probably benign	Het
BC106179	A	G	16: 23,043,022 (GRCm39)		probably benign	Het
Bcl2a1c	T	C	9: 114,159,608 (GRCm39)	*129Q	probably null	Het
C2cd5	T	C	6: 142,963,671 (GRCm39)	I888V	probably null	Het
Calb2	A	T	8: 110,872,303 (GRCm39)	L227Q	probably damaging	Het
Ccp110	G	T	7: 118,321,647 (GRCm39)	C434F	possibly damaging	Het
Cd209c	A	T	8: 3,990,339 (GRCm39)	C160S	probably damaging	Het
Chmp1a	A	G	8: 123,935,758 (GRCm39)		probably null	Het
Col6a6	T	A	9: 105,635,390 (GRCm39)		probably null	Het
Cyld	T	A	8: 89,432,085 (GRCm39)	C28S	probably benign	Het
Dapk1	A	T	13: 60,908,854 (GRCm39)	I1156F	probably benign	Het
Dennd3	T	G	15: 73,438,982 (GRCm39)	S1117A	probably benign	Het
Dgka	A	T	10: 128,568,955 (GRCm39)	D203E	probably damaging	Het
Dhx15	G	T	5: 52,324,117 (GRCm39)	L392I	probably damaging	Het
Dnah10	A	G	5: 124,823,680 (GRCm39)	D567G	probably benign	Het
Eaf1	T	A	14: 31,226,483 (GRCm39)		probably null	Het
Efnb2	T	C	8: 8,710,589 (GRCm39)	D9G	probably benign	Het
Fcrla	A	T	1: 170,755,067 (GRCm39)	C15S	probably benign	Het
Flt3	T	C	5: 147,291,686 (GRCm39)	N588S	probably damaging	Het
Garre1	A	T	7: 33,945,412 (GRCm39)		probably benign	Het
Gm10146	A	T	10: 78,229,307 (GRCm39)		noncoding transcript	Het
Gnpat	T	C	8: 125,603,653 (GRCm39)		probably benign	Het
Golm2	T	C	2: 121,741,274 (GRCm39)		probably benign	Het
Gpr39	A	C	1: 125,800,468 (GRCm39)	R406S	probably benign	Het
H2-Aa	T	C	17: 34,503,504 (GRCm39)	H31R	probably damaging	Het
Helz2	G	T	2: 180,871,495 (GRCm39)	R2706S	probably damaging	Het
Hip1r	T	A	5: 124,127,798 (GRCm39)		probably null	Het
Hnf4g	A	G	3: 3,713,142 (GRCm39)	T239A	probably benign	Het
Hps5	A	T	7: 46,425,362 (GRCm39)	I413N	probably damaging	Het
Hspg2	G	A	4: 137,256,131 (GRCm39)	G1413R	probably damaging	Het
Itgax	T	G	7: 127,734,498 (GRCm39)	M352R	probably damaging	Het
Katna1	T	A	10: 7,638,568 (GRCm39)	M433K	probably damaging	Het
Kcna4	T	G	2: 107,126,207 (GRCm39)	S314A	probably damaging	Het
Kif13b	C	T	14: 64,907,142 (GRCm39)	T42I	possibly damaging	Het
Krt78	G	A	15: 101,855,945 (GRCm39)	T622I	probably benign	Het
Krt86	T	A	15: 101,374,396 (GRCm39)	M263K	possibly damaging	Het
Lap3	A	G	5: 45,663,511 (GRCm39)		probably benign	Het
Lepr	A	T	4: 101,672,232 (GRCm39)	R1085S	probably benign	Het
Lmcd1	A	G	6: 112,306,769 (GRCm39)	I314V	probably benign	Het
Luc7l2	T	C	6: 38,585,105 (GRCm39)		probably benign	Het
Mcm2	T	A	6: 88,870,383 (GRCm39)	M117L	probably benign	Het
Mdh2	T	C	5: 135,815,138 (GRCm39)	Y133H	probably damaging	Het
Minar1	C	T	9: 89,483,853 (GRCm39)	V515I	probably benign	Het
Mlkl	T	A	8: 112,046,060 (GRCm39)	R317*	probably null	Het
Mrps34	T	C	17: 25,114,344 (GRCm39)	L68P	probably damaging	Het
Muc4	G	A	16: 32,754,086 (GRCm38)	G1321R	probably benign	Het
Myo18a	A	G	11: 77,738,764 (GRCm39)	E1299G	probably damaging	Het
Nlrp14	T	C	7: 106,791,709 (GRCm39)	L139P	possibly damaging	Het
Nudcd2	A	G	11: 40,627,413 (GRCm39)	D86G	probably damaging	Het
Or10u4	T	A	10: 129,801,673 (GRCm39)	R293W	probably damaging	Het
Or4c107	T	A	2: 88,789,110 (GRCm39)	I100N	probably damaging	Het
Or4f62	A	T	2: 111,986,412 (GRCm39)	M39L	probably benign	Het
Patj	T	C	4: 98,353,343 (GRCm39)	F629L	probably damaging	Het
Rad23a	A	G	8: 85,562,524 (GRCm39)	F280L	probably damaging	Het
Ralgapa1	C	A	12: 55,769,558 (GRCm39)	G811V	probably damaging	Het
St18	A	G	1: 6,872,796 (GRCm39)	D177G	probably benign	Het
Sult1c2	A	C	17: 54,140,147 (GRCm39)	Y159*	probably null	Het
Surf6	T	A	2: 26,783,081 (GRCm39)		probably null	Het
Susd6	T	G	12: 80,916,841 (GRCm39)		probably benign	Het
Sypl2	G	A	3: 108,133,742 (GRCm39)		probably benign	Het
Ubr5	A	T	15: 37,984,280 (GRCm39)	F2289Y	probably damaging	Het
Vcl	T	C	14: 21,037,071 (GRCm39)	I223T	probably benign	Het
Vmn1r234	C	T	17: 21,449,860 (GRCm39)	T258I	possibly damaging	Het
Vmn2r58	T	A	7: 41,513,854 (GRCm39)	K263M	possibly damaging	Het
Vmo1	A	T	11: 70,404,424 (GRCm39)	N192K	probably damaging	Het
Wrnip1	A	G	13: 33,000,312 (GRCm39)	N440D	probably damaging	Het
Zc3h4	T	C	7: 16,156,159 (GRCm39)	Y264H	unknown	Het
Zfp639	T	G	3: 32,573,902 (GRCm39)		probably null	Het
Zfp831	T	C	2: 174,488,078 (GRCm39)	Y918H	possibly damaging	Het

Other mutations in Dennd1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2011-07-12