Mutagenetix > Incidental Mutation

Incidental Mutation 'R1450:Dennd4a'

162157

Institutional Source

Beutler Lab

Gene Symbol

Dennd4a

Ensembl Gene

ENSMUSG00000053641

Gene Name

DENN/MADD domain containing 4A

Synonyms

F730015K02Rik

MMRRC Submission

039505-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.573) question?

Stock #

R1450 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64811340-64919667 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64911665 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1701 (I1701V)

Ref Sequence

ENSEMBL: ENSMUSP00000037915 (fasta)

Gene Model

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

AlphaFold

E9Q8V6

Predicted Effect

probably benign
Transcript: ENSMUST00000038890
AA Change: I1701V

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: I1701V

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: ENSMUST00000213744

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217307

Meta Mutation Damage Score

0.0578

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.0%
20x: 84.8%

Validation Efficiency

96% (73/76)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013F07Rik	T	A	3: 108,542,483		probably null	Het
Abca13	A	T	11: 9,430,531		probably benign	Het
Adh4	C	T	3: 138,424,174	P254S	probably damaging	Het
Amfr	T	C	8: 93,987,747	T223A	probably benign	Het
Ank2	T	C	3: 126,957,302	T412A	possibly damaging	Het
Bag6	T	A	17: 35,141,958	D422E	probably benign	Het
Ccdc185	T	G	1: 182,747,564	Q520P	possibly damaging	Het
Clock	G	A	5: 76,262,731	Q98*	probably null	Het
Cngb3	A	T	4: 19,395,922		probably benign	Het
Csmd1	T	G	8: 15,945,180		probably null	Het
Cubn	A	G	2: 13,360,319	L1636P	probably damaging	Het
Dgcr2	T	C	16: 17,856,814	H243R	possibly damaging	Het
Dimt1	A	G	13: 106,947,643	N46S	probably benign	Het
Dnah9	T	C	11: 65,927,786	Y58C	probably damaging	Het
Dsg1b	T	A	18: 20,409,184	V916E	probably damaging	Het
Dst	T	C	1: 34,188,395	S1690P	probably damaging	Het
Dst	T	A	1: 34,212,259	I2131K	probably damaging	Het
Epb41l1	T	C	2: 156,511,825		probably benign	Het
Fem1a	T	C	17: 56,257,579	V224A	probably damaging	Het
Got2	C	T	8: 95,871,986	E203K	probably benign	Het
Hcar2	A	T	5: 123,864,750	I230N	probably damaging	Het
Herc3	A	T	6: 58,876,515	K554*	probably null	Het
Hfm1	A	G	5: 106,918,458	F35L	probably damaging	Het
Hmcn1	A	G	1: 150,652,506		probably benign	Het
Hoxa13	C	G	6: 52,260,647		probably benign	Het
Hoxa13	G	C	6: 52,260,648		probably benign	Het
Hs2st1	C	T	3: 144,434,718		probably benign	Het
Igfbp5	T	A	1: 72,873,889	D84V	probably benign	Het
Ints3	C	A	3: 90,432,828	L41F	probably damaging	Het
Ipo5	T	C	14: 120,944,393	V966A	probably benign	Het
Kif26a	C	T	12: 112,173,852	T505M	probably damaging	Het
Kpna2	A	G	11: 106,997,309	S2P	probably benign	Het
Lct	A	G	1: 128,307,903	S456P	probably damaging	Het
Lonrf2	G	A	1: 38,813,276	P165S	probably benign	Het
Lrrc7	T	G	3: 158,187,044	I323L	possibly damaging	Het
Ly6g	A	G	15: 75,158,633	K77R	probably benign	Het
Maea	T	C	5: 33,365,800		probably null	Het
Marco	A	T	1: 120,476,745		probably benign	Het
Mcmbp	G	T	7: 128,715,931		probably benign	Het
Mtr	T	A	13: 12,193,733	R1017W	probably damaging	Het
Myo15	T	A	11: 60,495,482	I1811N	probably damaging	Het
Nbeal2	G	A	9: 110,633,672		probably benign	Het
Nlrp10	A	G	7: 108,925,388	V295A	probably damaging	Het
Olfr1328	T	C	4: 118,934,510	T111A	probably benign	Het
Olfr513	A	T	7: 108,755,512	I219F	probably damaging	Het
Olfr616	A	G	7: 103,564,451	V276A	probably benign	Het
Pde4b	A	T	4: 102,601,635	Q496L	probably damaging	Het
Peg12	C	A	7: 62,463,576	G258*	probably null	Het
Pigc	A	G	1: 161,971,253	Y268C	probably benign	Het
Pnisr	G	T	4: 21,874,912		probably null	Het
Poteg	T	C	8: 27,447,843	F5S	probably benign	Het
Prss40	T	A	1: 34,556,097	I101F	probably benign	Het
Ptges3l	T	A	11: 101,421,905	D113V	possibly damaging	Het
Raver2	T	C	4: 101,136,152	S510P	possibly damaging	Het
Rgr	A	T	14: 37,044,684	C94*	probably null	Het
Rp1l1	T	A	14: 64,028,150	I395N	probably benign	Het
Sesn3	T	A	9: 14,316,224	H168Q	possibly damaging	Het
Soga3	A	T	10: 29,147,740	N361I	probably damaging	Het
Sox30	C	A	11: 46,017,271	P755Q	probably damaging	Het
Stac3	T	C	10: 127,504,885	F173S	probably damaging	Het
Synj2	C	A	17: 6,027,324		probably benign	Het
Tarsl2	A	T	7: 65,647,496	I120L	probably benign	Het
Tas2r124	A	G	6: 132,755,056	I109M	probably damaging	Het
Tm4sf19	A	T	16: 32,407,963	H190L	probably damaging	Het
Tmem143	T	G	7: 45,907,108	V179G	probably damaging	Het
Ubr4	T	C	4: 139,468,028	F1187S	probably damaging	Het
Ubtfl1	A	G	9: 18,409,913	R246G	possibly damaging	Het
Zdhhc5	A	G	2: 84,702,389	F57S	probably damaging	Het
Zfp40	A	T	17: 23,175,258	M717K	probably benign	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
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
R4876:Dennd4a	UTSW	9	64896590	missense	probably benign
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
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'- TGCTTAGAGAGCCTTAGCCTCTCG -3'
(R):5'- GAGTGCGGTTCTGACCTGTAAGAC -3'

Sequencing Primer
(F):5'- agtggtggatgtgggagag -3'
(R):5'- GTTCTGACCTGTAAGACAAAAAGC -3'

Posted On

2014-03-14