Mutagenetix > Incidental Mutation

Incidental Mutation 'R4876:Dennd4a'

376886

Institutional Source

Beutler Lab

Gene Symbol

Dennd4a

Ensembl Gene

ENSMUSG00000053641

Gene Name

DENN/MADD domain containing 4A

Synonyms

F730015K02Rik

MMRRC Submission

042485-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.498) question?

Stock #

R4876 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64811340-64919667 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 64896590 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1070 (N1070K)

Ref Sequence

ENSEMBL: ENSMUSP00000037915 (fasta)

Gene Model

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

AlphaFold

E9Q8V6

Predicted Effect

probably benign
Transcript: ENSMUST00000038890
AA Change: N1070K

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

SMART Domains

Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: N1070K

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: ENSMUST00000216098

Meta Mutation Damage Score

0.0618

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

99% (97/98)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190002N15Rik	C	T	9: 94,537,577	R100H	probably damaging	Het
4930562C15Rik	T	C	16: 4,849,672	F309S	unknown	Het
9530053A07Rik	A	T	7: 28,142,800		probably benign	Het
A630001G21Rik	C	T	1: 85,719,040	V167M	probably damaging	Het
Anks6	C	T	4: 47,030,795	G601S	probably damaging	Het
Ano4	A	G	10: 89,112,835	F138L	probably damaging	Het
Aoc1	T	C	6: 48,906,747	V519A	possibly damaging	Het
Arhgef37	A	T	18: 61,498,239	Y558*	probably null	Het
Atxn3	T	A	12: 101,948,379	S29C	probably damaging	Het
Bbs2	T	C	8: 94,070,160		probably benign	Het
BC052040	A	C	2: 115,670,058	H159P	probably damaging	Het
Bicral	A	T	17: 46,825,576	I236N	probably damaging	Het
Cabcoco1	A	G	10: 68,541,769	V30A	probably benign	Het
Cap2	A	G	13: 46,531,021	M1V	probably null	Het
Ccdc153	T	C	9: 44,241,008	M1T	probably null	Het
Ccnf	A	T	17: 24,230,337	V489D	probably damaging	Het
Cntnap3	T	C	13: 64,787,706	T448A	probably benign	Het
Cpa4	G	A	6: 30,590,815	D371N	probably benign	Het
Csl	T	A	10: 99,758,540	Y221F	possibly damaging	Het
Dalrd3	T	C	9: 108,571,436		probably benign	Het
Dmwd	A	T	7: 19,080,547	D374V	probably damaging	Het
Eea1	G	T	10: 95,995,613	A189S	probably benign	Het
Fasn	A	G	11: 120,812,312	V1629A	probably damaging	Het
Fndc1	T	C	17: 7,771,639	D1075G	unknown	Het
Fsip2	A	G	2: 82,974,858	N507S	possibly damaging	Het
Gabra5	T	G	7: 57,413,665	E337A	probably damaging	Het
Gsg1l	A	G	7: 125,891,669	Y288H	probably benign	Het
H2-M11	A	T	17: 36,547,509	D65V	probably benign	Het
Hmgxb3	A	T	18: 61,146,534	C736S	possibly damaging	Het
Hsd3b3	A	T	3: 98,742,644	I121N	probably damaging	Het
Ikbke	GCC	G	1: 131,275,267		probably null	Het
Il16	A	C	7: 83,673,094	S338A	probably benign	Het
Itpr1	G	A	6: 108,482,906	A2054T	probably damaging	Het
Lamp3	T	A	16: 19,655,470	I385F	probably damaging	Het
Limch1	G	A	5: 66,881,927	V66I	possibly damaging	Het
Lmod2	A	G	6: 24,604,279	R418G	probably benign	Het
Ly6g6c	A	T	17: 35,069,440	D96V	probably damaging	Het
Map2k2	G	A	10: 81,115,113	V131M	probably damaging	Het
Mapk9	T	C	11: 49,854,325	V22A	probably damaging	Het
Mettl2	T	C	11: 105,129,068	I177T	probably damaging	Het
Mob4	C	T	1: 55,152,836		probably benign	Het
Mybpc1	T	C	10: 88,522,991	I1113V	probably benign	Het
Mybpc1	A	T	10: 88,536,424	N781K	probably benign	Het
Myom1	A	G	17: 71,077,410	T707A	probably damaging	Het
Ncam2	G	A	16: 81,490,346	A383T	probably benign	Het
Nomo1	T	C	7: 46,066,491	S761P	probably damaging	Het
Nsd3	T	A	8: 25,691,134	S921T	possibly damaging	Het
Olfr268-ps1	C	G	2: 111,844,695		noncoding transcript	Het
Olfr934	A	T	9: 38,982,626	C139*	probably null	Het
Olfr985	C	T	9: 40,127,218	V248I	probably damaging	Het
Omp	A	T	7: 98,145,026	D131E	probably benign	Het
Pard3	T	C	8: 127,561,469		probably benign	Het
Parg	A	G	14: 32,271,668	T286A	probably damaging	Het
Parp1	T	A	1: 180,569,035	M1K	probably null	Het
Pclo	T	A	5: 14,811,680	S4882R	unknown	Het
Pcnx2	C	T	8: 125,772,108	E1551K	probably damaging	Het
Pcyox1l	A	G	18: 61,699,494	Y161H	probably damaging	Het
Pdzd8	A	T	19: 59,300,804	C721*	probably null	Het
Piwil4	T	C	9: 14,740,465	D90G	probably benign	Het
Plxdc2	T	A	2: 16,703,318	C306S	probably damaging	Het
Plxna2	T	A	1: 194,643,775	F6I	probably benign	Het
Prkaa1	T	C	15: 5,174,405	M265T	probably benign	Het
Prrc2b	T	C	2: 32,214,200	V1230A	probably benign	Het
Rfx2	T	C	17: 56,784,706	E329G	probably benign	Het
Scg2	T	C	1: 79,435,919	I322M	probably damaging	Het
Scly	T	A	1: 91,320,128	N399K	probably damaging	Het
Sec23b	T	A	2: 144,586,361		probably null	Het
Sephs2	A	T	7: 127,273,047	Y291*	probably null	Het
Slc45a3	T	C	1: 131,981,547	I494T	possibly damaging	Het
Slc6a21	C	A	7: 45,280,111	Y76*	probably null	Het
Slfn14	T	A	11: 83,276,272	I806L	possibly damaging	Het
Slfn4	T	A	11: 83,187,018	S211T	probably benign	Het
Sptbn4	A	G	7: 27,372,152	V1624A	probably damaging	Het
Sugp1	T	A	8: 70,071,184	M567K	probably damaging	Het
Tmem121	A	T	12: 113,188,728	M189L	probably benign	Het
Tmem201	A	G	4: 149,722,270	S444P	probably damaging	Het
Tmem63a	T	C	1: 180,973,186	V744A	probably benign	Het
Tnrc18	G	A	5: 142,731,625	S2358F	unknown	Het
Ubash3b	A	G	9: 41,018,109	V404A	probably benign	Het
Unc13c	A	T	9: 73,749,539	C1127S	probably damaging	Het
Unc5a	T	C	13: 54,997,229	V253A	probably benign	Het
Vmn1r-ps123	C	T	13: 22,996,365		noncoding transcript	Het
Wdr74	A	G	19: 8,739,485	E253G	possibly damaging	Het
Wwox	T	C	8: 114,448,248	Y107H	probably damaging	Het
Zdhhc22	A	T	12: 86,988,238	Y147N	probably damaging	Het
Zfp131	T	C	13: 119,788,955	H44R	possibly damaging	Het
Zfp235	A	G	7: 24,140,959	T268A	probably benign	Het
Zfp280d	T	C	9: 72,298,858		probably benign	Het
Zfp358	T	C	8: 3,496,170	S251P	probably damaging	Het

Other mutations in Dennd4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Dennd4a	APN	9	64911762	missense	probably damaging	1.00
IGL01610:Dennd4a	APN	9	64906884	missense	probably damaging	0.99
IGL01788:Dennd4a	APN	9	64842621	missense	probably benign	0.00
IGL01827:Dennd4a	APN	9	64842561	nonsense	probably null
IGL01828:Dennd4a	APN	9	64842561	nonsense	probably null
IGL01829:Dennd4a	APN	9	64842561	nonsense	probably null
IGL01979:Dennd4a	APN	9	64894409	missense	probably benign	0.00
IGL02100:Dennd4a	APN	9	64909706	splice site	probably benign
IGL02339:Dennd4a	APN	9	64842561	nonsense	probably null
IGL02341:Dennd4a	APN	9	64842561	nonsense	probably null
IGL02584:Dennd4a	APN	9	64851298	missense	probably damaging	1.00
IGL02607:Dennd4a	APN	9	64862327	missense	probably damaging	0.99
IGL02654:Dennd4a	APN	9	64910191	splice site	probably benign
IGL02701:Dennd4a	APN	9	64897353	missense	possibly damaging	0.50
IGL03051:Dennd4a	APN	9	64862414	missense	probably damaging	1.00
IGL03257:Dennd4a	APN	9	64871874	missense	possibly damaging	0.93
IGL03346:Dennd4a	APN	9	64888526	missense	possibly damaging	0.47
IGL03349:Dennd4a	APN	9	64888974	missense	probably damaging	1.00
IGL03398:Dennd4a	APN	9	64871882	missense	probably benign	0.32
R0010:Dennd4a	UTSW	9	64896715	missense	probably benign	0.00
R0010:Dennd4a	UTSW	9	64896715	missense	probably benign	0.00
R0129:Dennd4a	UTSW	9	64893294	missense	probably damaging	1.00
R0220:Dennd4a	UTSW	9	64852445	missense	probably damaging	1.00
R0396:Dennd4a	UTSW	9	64862391	missense	probably damaging	1.00
R0881:Dennd4a	UTSW	9	64851383	critical splice donor site	probably null
R1225:Dennd4a	UTSW	9	64911675	missense	probably benign	0.03
R1311:Dennd4a	UTSW	9	64910004	missense	probably benign	0.34
R1448:Dennd4a	UTSW	9	64906045	missense	possibly damaging	0.95
R1450:Dennd4a	UTSW	9	64911665	missense	probably benign	0.03
R1630:Dennd4a	UTSW	9	64871882	missense	probably benign	0.32
R1709:Dennd4a	UTSW	9	64889605	missense	possibly damaging	0.92
R1824:Dennd4a	UTSW	9	64859358	critical splice donor site	probably null
R1851:Dennd4a	UTSW	9	64862030	missense	probably damaging	1.00
R1870:Dennd4a	UTSW	9	64897234	missense	probably benign	0.00
R1900:Dennd4a	UTSW	9	64897336	missense	probably damaging	0.99
R1911:Dennd4a	UTSW	9	64889086	missense	probably damaging	1.00
R1938:Dennd4a	UTSW	9	64842490	missense	probably damaging	1.00
R1954:Dennd4a	UTSW	9	64852467	missense	probably benign	0.02
R1955:Dennd4a	UTSW	9	64852467	missense	probably benign	0.02
R2049:Dennd4a	UTSW	9	64889605	missense	possibly damaging	0.92
R2129:Dennd4a	UTSW	9	64905974	splice site	probably null
R2138:Dennd4a	UTSW	9	64889337	missense	probably damaging	1.00
R2929:Dennd4a	UTSW	9	64852417	missense	possibly damaging	0.85
R3083:Dennd4a	UTSW	9	64906081	missense	probably benign	0.03
R3108:Dennd4a	UTSW	9	64912387	missense	probably benign	0.23
R3176:Dennd4a	UTSW	9	64888993	missense	probably damaging	1.00
R3177:Dennd4a	UTSW	9	64888993	missense	probably damaging	1.00
R3276:Dennd4a	UTSW	9	64888993	missense	probably damaging	1.00
R3277:Dennd4a	UTSW	9	64888993	missense	probably damaging	1.00
R3890:Dennd4a	UTSW	9	64872028	missense	probably damaging	1.00
R3953:Dennd4a	UTSW	9	64852575	missense	probably damaging	1.00
R3963:Dennd4a	UTSW	9	64862331	missense	probably damaging	1.00
R4059:Dennd4a	UTSW	9	64911892	missense	possibly damaging	0.92
R4499:Dennd4a	UTSW	9	64910123	missense	possibly damaging	0.78
R4500:Dennd4a	UTSW	9	64910123	missense	possibly damaging	0.78
R4501:Dennd4a	UTSW	9	64910123	missense	possibly damaging	0.78
R4671:Dennd4a	UTSW	9	64894407	missense	probably benign
R4701:Dennd4a	UTSW	9	64897357	missense	possibly damaging	0.91
R4821:Dennd4a	UTSW	9	64897249	missense	possibly damaging	0.92
R4829:Dennd4a	UTSW	9	64889056	missense	probably damaging	1.00
R4881:Dennd4a	UTSW	9	64838844	missense	possibly damaging	0.77
R4962:Dennd4a	UTSW	9	64906003	missense	probably benign	0.00
R5225:Dennd4a	UTSW	9	64888928	missense	possibly damaging	0.94
R5557:Dennd4a	UTSW	9	64904227	missense	probably benign	0.07
R5649:Dennd4a	UTSW	9	64851209	splice site	probably null
R5868:Dennd4a	UTSW	9	64896729	missense	probably benign	0.02
R5876:Dennd4a	UTSW	9	64911755	missense	probably damaging	1.00
R6052:Dennd4a	UTSW	9	64886945	missense	probably damaging	1.00
R6411:Dennd4a	UTSW	9	64871899	missense	probably benign	0.04
R6596:Dennd4a	UTSW	9	64852420	missense	probably damaging	1.00
R6668:Dennd4a	UTSW	9	64886965	missense	probably damaging	1.00
R6915:Dennd4a	UTSW	9	64852489	nonsense	probably null
R7056:Dennd4a	UTSW	9	64906923	missense	possibly damaging	0.89
R7107:Dennd4a	UTSW	9	64894399	missense	possibly damaging	0.79
R7203:Dennd4a	UTSW	9	64896474	missense	probably benign	0.05
R7238:Dennd4a	UTSW	9	64861956	missense	probably damaging	1.00
R7373:Dennd4a	UTSW	9	64897269	missense	probably benign	0.01
R7454:Dennd4a	UTSW	9	64852570	missense	probably damaging	1.00
R7546:Dennd4a	UTSW	9	64873044	missense	probably damaging	1.00
R7590:Dennd4a	UTSW	9	64888587	missense	probably benign	0.01
R7662:Dennd4a	UTSW	9	64852431	missense	probably damaging	1.00
R7782:Dennd4a	UTSW	9	64906920	missense	probably damaging	0.98
R7909:Dennd4a	UTSW	9	64872993	critical splice acceptor site	probably null
R7976:Dennd4a	UTSW	9	64852512	missense	possibly damaging	0.95
R8026:Dennd4a	UTSW	9	64873030	missense	probably damaging	1.00
R8034:Dennd4a	UTSW	9	64888568	missense	probably benign	0.01
R8089:Dennd4a	UTSW	9	64849175	missense	probably damaging	1.00
R8298:Dennd4a	UTSW	9	64906875	missense	probably benign	0.00
R8397:Dennd4a	UTSW	9	64889109	missense	probably benign
R8425:Dennd4a	UTSW	9	64838974	missense	probably damaging	1.00
R8495:Dennd4a	UTSW	9	64886879	missense	probably damaging	1.00
R8855:Dennd4a	UTSW	9	64912390	missense	probably benign
R9219:Dennd4a	UTSW	9	64889094	missense	probably damaging	0.96
R9275:Dennd4a	UTSW	9	64842624	missense	probably damaging	1.00
R9376:Dennd4a	UTSW	9	64912692	missense	probably benign	0.00
R9485:Dennd4a	UTSW	9	64907106	nonsense	probably null
R9672:Dennd4a	UTSW	9	64893358	missense	probably benign
R9746:Dennd4a	UTSW	9	64894511	missense	probably benign
X0026:Dennd4a	UTSW	9	64897320	missense	possibly damaging	0.67
Z1088:Dennd4a	UTSW	9	64872022	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTGAGGACACAAATGAAGCAC -3'
(R):5'- GACACCGCCCACTTTTGATC -3'

Sequencing Primer
(F):5'- GCAGGTGCTTTAGGAAAAGGC -3'
(R):5'- GATCCATCTGTTTCAGTGTCTAAATC -3'

Posted On

2016-03-17