Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02339:Dennd4a'

288998

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dennd4a

Ensembl Gene

ENSMUSG00000053641

Gene Name

DENN domain containing 4A

Synonyms

F730015K02Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.465) question?

Stock #

IGL02339

Quality Score

Status

Chromosome

Chromosomal Location

64718622-64826949 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 64749843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 145 (R145*)

Ref Sequence

ENSEMBL: ENSMUSP00000037915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038890] [ENSMUST00000213926]

AlphaFold

E9Q8V6

Predicted Effect

probably null
Transcript: ENSMUST00000038890
AA Change: R145*

SMART Domains

Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: R145*

Domain	Start	End	E-Value	Type
internal_repeat_1	45	93	3.26e-5	PROSPERO
uDENN	169	276	1.71e-28	SMART
DENN	309	493	2.4e-73	SMART
dDENN	559	633	4.15e-27	SMART
low complexity region	724	735	N/A	INTRINSIC
low complexity region	936	950	N/A	INTRINSIC
low complexity region	1176	1191	N/A	INTRINSIC
low complexity region	1249	1262	N/A	INTRINSIC
low complexity region	1402	1417	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213437

Predicted Effect

probably benign
Transcript: ENSMUST00000213926

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214001

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215025

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DENN domain-containing protein that may function as a guanine nucleotide exchange factor that specifically activates ras-related protein Rab-10. This protein also contains a interferon stimulated response element-binding domain and may be involved in regulating the v-myc avian myelocytomatosis viral (MYC) oncogene. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8. [provided by RefSeq, Mar 2016]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	C	A	6: 23,093,965 (GRCm39)	V119F	probably damaging	Het
Abcg5	T	C	17: 84,981,032 (GRCm39)	I186V	possibly damaging	Het
B4gat1	G	A	19: 5,089,446 (GRCm39)	E148K	probably benign	Het
Ccr6	A	T	17: 8,475,085 (GRCm39)	T97S	probably benign	Het
Cd209f	A	C	8: 4,154,483 (GRCm39)		probably null	Het
Chst1	T	A	2: 92,443,922 (GRCm39)	D131E	possibly damaging	Het
Dnaaf9	A	G	2: 130,581,385 (GRCm39)	S546P	probably damaging	Het
Dnah6	A	G	6: 73,078,881 (GRCm39)	Y2361H	probably benign	Het
Dpp6	C	T	5: 27,857,228 (GRCm39)	T333I	probably damaging	Het
Glt8d1	C	A	14: 30,730,767 (GRCm39)	T91K	probably damaging	Het
Gm4952	G	A	19: 12,604,275 (GRCm39)	R229Q	probably damaging	Het
Gm5117	T	C	8: 32,228,254 (GRCm39)		noncoding transcript	Het
Gp5	T	C	16: 30,128,008 (GRCm39)	E222G	probably damaging	Het
Herc2	T	A	7: 55,771,470 (GRCm39)	D1077E	probably benign	Het
Hfe	T	C	13: 23,888,373 (GRCm39)	E171G	probably damaging	Het
Hsp90b1	A	G	10: 86,537,678 (GRCm39)	V209A	probably damaging	Het
Ktn1	A	T	14: 47,920,835 (GRCm39)		probably benign	Het
Med13	T	C	11: 86,179,765 (GRCm39)	I1394M	probably benign	Het
Meioc	T	G	11: 102,559,274 (GRCm39)	S65R	probably benign	Het
Myof	T	C	19: 37,960,661 (GRCm39)	Y460C	possibly damaging	Het
Or4f53	A	T	2: 111,087,588 (GRCm39)	T43S	probably benign	Het
Pms1	A	G	1: 53,314,324 (GRCm39)	Y74H	possibly damaging	Het
Ptprn2	A	C	12: 116,685,724 (GRCm39)	Q61P	probably damaging	Het
Rab29	A	G	1: 131,799,880 (GRCm39)	T152A	probably benign	Het
Rest	A	G	5: 77,423,135 (GRCm39)	H313R	probably damaging	Het
Slc9a5	T	C	8: 106,085,091 (GRCm39)	Y531H	probably damaging	Het
St3gal3	T	C	4: 117,815,759 (GRCm39)	T148A	probably damaging	Het
Stxbp5	C	T	10: 9,692,041 (GRCm39)	V368I	possibly damaging	Het
Taf1c	T	C	8: 120,331,019 (GRCm39)	D33G	probably damaging	Het
Trim38	G	A	13: 23,972,213 (GRCm39)	R178Q	probably damaging	Het
Uvssa	A	T	5: 33,572,193 (GRCm39)	K704N	probably damaging	Het
Vmn1r69	G	A	7: 10,314,645 (GRCm39)	Q29*	probably null	Het
Ypel2	T	C	11: 86,831,429 (GRCm39)	D119G	possibly damaging	Het

Other mutations in Dennd4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Dennd4a	APN	9	64,819,044 (GRCm39)	missense	probably damaging	1.00
IGL01610:Dennd4a	APN	9	64,814,166 (GRCm39)	missense	probably damaging	0.99
IGL01788:Dennd4a	APN	9	64,749,903 (GRCm39)	missense	probably benign	0.00
IGL01827:Dennd4a	APN	9	64,749,843 (GRCm39)	nonsense	probably null
IGL01828:Dennd4a	APN	9	64,749,843 (GRCm39)	nonsense	probably null
IGL01829:Dennd4a	APN	9	64,749,843 (GRCm39)	nonsense	probably null
IGL01979:Dennd4a	APN	9	64,801,691 (GRCm39)	missense	probably benign	0.00
IGL02100:Dennd4a	APN	9	64,816,988 (GRCm39)	splice site	probably benign
IGL02341:Dennd4a	APN	9	64,749,843 (GRCm39)	nonsense	probably null
IGL02584:Dennd4a	APN	9	64,758,580 (GRCm39)	missense	probably damaging	1.00
IGL02607:Dennd4a	APN	9	64,769,609 (GRCm39)	missense	probably damaging	0.99
IGL02654:Dennd4a	APN	9	64,817,473 (GRCm39)	splice site	probably benign
IGL02701:Dennd4a	APN	9	64,804,635 (GRCm39)	missense	possibly damaging	0.50
IGL03051:Dennd4a	APN	9	64,769,696 (GRCm39)	missense	probably damaging	1.00
IGL03257:Dennd4a	APN	9	64,779,156 (GRCm39)	missense	possibly damaging	0.93
IGL03346:Dennd4a	APN	9	64,795,808 (GRCm39)	missense	possibly damaging	0.47
IGL03349:Dennd4a	APN	9	64,796,256 (GRCm39)	missense	probably damaging	1.00
IGL03398:Dennd4a	APN	9	64,779,164 (GRCm39)	missense	probably benign	0.32
R0010:Dennd4a	UTSW	9	64,803,997 (GRCm39)	missense	probably benign	0.00
R0010:Dennd4a	UTSW	9	64,803,997 (GRCm39)	missense	probably benign	0.00
R0129:Dennd4a	UTSW	9	64,800,576 (GRCm39)	missense	probably damaging	1.00
R0220:Dennd4a	UTSW	9	64,759,727 (GRCm39)	missense	probably damaging	1.00
R0396:Dennd4a	UTSW	9	64,769,673 (GRCm39)	missense	probably damaging	1.00
R0881:Dennd4a	UTSW	9	64,758,665 (GRCm39)	critical splice donor site	probably null
R1225:Dennd4a	UTSW	9	64,818,957 (GRCm39)	missense	probably benign	0.03
R1311:Dennd4a	UTSW	9	64,817,286 (GRCm39)	missense	probably benign	0.34
R1448:Dennd4a	UTSW	9	64,813,327 (GRCm39)	missense	possibly damaging	0.95
R1450:Dennd4a	UTSW	9	64,818,947 (GRCm39)	missense	probably benign	0.03
R1630:Dennd4a	UTSW	9	64,779,164 (GRCm39)	missense	probably benign	0.32
R1709:Dennd4a	UTSW	9	64,796,887 (GRCm39)	missense	possibly damaging	0.92
R1824:Dennd4a	UTSW	9	64,766,640 (GRCm39)	critical splice donor site	probably null
R1851:Dennd4a	UTSW	9	64,769,312 (GRCm39)	missense	probably damaging	1.00
R1870:Dennd4a	UTSW	9	64,804,516 (GRCm39)	missense	probably benign	0.00
R1900:Dennd4a	UTSW	9	64,804,618 (GRCm39)	missense	probably damaging	0.99
R1911:Dennd4a	UTSW	9	64,796,368 (GRCm39)	missense	probably damaging	1.00
R1938:Dennd4a	UTSW	9	64,749,772 (GRCm39)	missense	probably damaging	1.00
R1954:Dennd4a	UTSW	9	64,759,749 (GRCm39)	missense	probably benign	0.02
R1955:Dennd4a	UTSW	9	64,759,749 (GRCm39)	missense	probably benign	0.02
R2049:Dennd4a	UTSW	9	64,796,887 (GRCm39)	missense	possibly damaging	0.92
R2129:Dennd4a	UTSW	9	64,813,256 (GRCm39)	splice site	probably null
R2138:Dennd4a	UTSW	9	64,796,619 (GRCm39)	missense	probably damaging	1.00
R2929:Dennd4a	UTSW	9	64,759,699 (GRCm39)	missense	possibly damaging	0.85
R3083:Dennd4a	UTSW	9	64,813,363 (GRCm39)	missense	probably benign	0.03
R3108:Dennd4a	UTSW	9	64,819,669 (GRCm39)	missense	probably benign	0.23
R3176:Dennd4a	UTSW	9	64,796,275 (GRCm39)	missense	probably damaging	1.00
R3177:Dennd4a	UTSW	9	64,796,275 (GRCm39)	missense	probably damaging	1.00
R3276:Dennd4a	UTSW	9	64,796,275 (GRCm39)	missense	probably damaging	1.00
R3277:Dennd4a	UTSW	9	64,796,275 (GRCm39)	missense	probably damaging	1.00
R3890:Dennd4a	UTSW	9	64,779,310 (GRCm39)	missense	probably damaging	1.00
R3953:Dennd4a	UTSW	9	64,759,857 (GRCm39)	missense	probably damaging	1.00
R3963:Dennd4a	UTSW	9	64,769,613 (GRCm39)	missense	probably damaging	1.00
R4059:Dennd4a	UTSW	9	64,819,174 (GRCm39)	missense	possibly damaging	0.92
R4499:Dennd4a	UTSW	9	64,817,405 (GRCm39)	missense	possibly damaging	0.78
R4500:Dennd4a	UTSW	9	64,817,405 (GRCm39)	missense	possibly damaging	0.78
R4501:Dennd4a	UTSW	9	64,817,405 (GRCm39)	missense	possibly damaging	0.78
R4671:Dennd4a	UTSW	9	64,801,689 (GRCm39)	missense	probably benign
R4701:Dennd4a	UTSW	9	64,804,639 (GRCm39)	missense	possibly damaging	0.91
R4821:Dennd4a	UTSW	9	64,804,531 (GRCm39)	missense	possibly damaging	0.92
R4829:Dennd4a	UTSW	9	64,796,338 (GRCm39)	missense	probably damaging	1.00
R4876:Dennd4a	UTSW	9	64,803,872 (GRCm39)	missense	probably benign
R4881:Dennd4a	UTSW	9	64,746,126 (GRCm39)	missense	possibly damaging	0.77
R4962:Dennd4a	UTSW	9	64,813,285 (GRCm39)	missense	probably benign	0.00
R5225:Dennd4a	UTSW	9	64,796,210 (GRCm39)	missense	possibly damaging	0.94
R5557:Dennd4a	UTSW	9	64,811,509 (GRCm39)	missense	probably benign	0.07
R5649:Dennd4a	UTSW	9	64,758,491 (GRCm39)	splice site	probably null
R5868:Dennd4a	UTSW	9	64,804,011 (GRCm39)	missense	probably benign	0.02
R5876:Dennd4a	UTSW	9	64,819,037 (GRCm39)	missense	probably damaging	1.00
R6052:Dennd4a	UTSW	9	64,794,227 (GRCm39)	missense	probably damaging	1.00
R6411:Dennd4a	UTSW	9	64,779,181 (GRCm39)	missense	probably benign	0.04
R6596:Dennd4a	UTSW	9	64,759,702 (GRCm39)	missense	probably damaging	1.00
R6668:Dennd4a	UTSW	9	64,794,247 (GRCm39)	missense	probably damaging	1.00
R6915:Dennd4a	UTSW	9	64,759,771 (GRCm39)	nonsense	probably null
R7056:Dennd4a	UTSW	9	64,814,205 (GRCm39)	missense	possibly damaging	0.89
R7107:Dennd4a	UTSW	9	64,801,681 (GRCm39)	missense	possibly damaging	0.79
R7203:Dennd4a	UTSW	9	64,803,756 (GRCm39)	missense	probably benign	0.05
R7238:Dennd4a	UTSW	9	64,769,238 (GRCm39)	missense	probably damaging	1.00
R7373:Dennd4a	UTSW	9	64,804,551 (GRCm39)	missense	probably benign	0.01
R7454:Dennd4a	UTSW	9	64,759,852 (GRCm39)	missense	probably damaging	1.00
R7546:Dennd4a	UTSW	9	64,780,326 (GRCm39)	missense	probably damaging	1.00
R7590:Dennd4a	UTSW	9	64,795,869 (GRCm39)	missense	probably benign	0.01
R7662:Dennd4a	UTSW	9	64,759,713 (GRCm39)	missense	probably damaging	1.00
R7782:Dennd4a	UTSW	9	64,814,202 (GRCm39)	missense	probably damaging	0.98
R7909:Dennd4a	UTSW	9	64,780,275 (GRCm39)	critical splice acceptor site	probably null
R7976:Dennd4a	UTSW	9	64,759,794 (GRCm39)	missense	possibly damaging	0.95
R8026:Dennd4a	UTSW	9	64,780,312 (GRCm39)	missense	probably damaging	1.00
R8034:Dennd4a	UTSW	9	64,795,850 (GRCm39)	missense	probably benign	0.01
R8089:Dennd4a	UTSW	9	64,756,457 (GRCm39)	missense	probably damaging	1.00
R8298:Dennd4a	UTSW	9	64,814,157 (GRCm39)	missense	probably benign	0.00
R8397:Dennd4a	UTSW	9	64,796,391 (GRCm39)	missense	probably benign
R8425:Dennd4a	UTSW	9	64,746,256 (GRCm39)	missense	probably damaging	1.00
R8495:Dennd4a	UTSW	9	64,794,161 (GRCm39)	missense	probably damaging	1.00
R8855:Dennd4a	UTSW	9	64,819,672 (GRCm39)	missense	probably benign
R9219:Dennd4a	UTSW	9	64,796,376 (GRCm39)	missense	probably damaging	0.96
R9275:Dennd4a	UTSW	9	64,749,906 (GRCm39)	missense	probably damaging	1.00
R9376:Dennd4a	UTSW	9	64,819,974 (GRCm39)	missense	probably benign	0.00
R9485:Dennd4a	UTSW	9	64,814,388 (GRCm39)	nonsense	probably null
R9672:Dennd4a	UTSW	9	64,800,640 (GRCm39)	missense	probably benign
R9746:Dennd4a	UTSW	9	64,801,793 (GRCm39)	missense	probably benign
X0026:Dennd4a	UTSW	9	64,804,602 (GRCm39)	missense	possibly damaging	0.67
Z1088:Dennd4a	UTSW	9	64,779,304 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16