Mutagenetix > Incidental Mutation

Incidental Mutation 'R1870:Dennd4a'

210662

Institutional Source

Beutler Lab

Gene Symbol

Dennd4a

Ensembl Gene

ENSMUSG00000053641

Gene Name

DENN/MADD domain containing 4A

Synonyms

F730015K02Rik

MMRRC Submission

039892-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.469) question?

Stock #

R1870 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64811340-64919667 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 64897234 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 1285 (A1285V)

Ref Sequence

ENSEMBL: ENSMUSP00000037915 (fasta)

Gene Model

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

AlphaFold

E9Q8V6

Predicted Effect

probably benign
Transcript: ENSMUST00000038890
AA Change: A1285V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: A1285V

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

0.0594

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.1%

Validation Efficiency

97% (96/99)

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
9330182L06Rik	A	G	5: 9,418,007	E225G	probably damaging	Het
Abca13	A	T	11: 9,292,134	E1332D	probably benign	Het
Abca5	C	A	11: 110,329,217	V8L	probably benign	Het
Abcc8	C	T	7: 46,123,915	E797K	probably benign	Het
Acd	C	A	8: 105,698,407		probably null	Het
Adamts12	T	C	15: 11,311,154	S1166P	probably benign	Het
AI481877	G	A	4: 59,054,142		probably benign	Het
Alox12b	T	C	11: 69,158,373	Y83H	possibly damaging	Het
Antxr2	A	T	5: 98,030,438	S38T	probably damaging	Het
Aox1	A	G	1: 58,076,103	E749G	probably damaging	Het
Arpc1a	T	A	5: 145,107,091	C344S	possibly damaging	Het
BC055324	G	A	1: 163,964,794	L545F	probably damaging	Het
Bcan	T	C	3: 87,995,601	Y290C	probably damaging	Het
Bod1l	G	A	5: 41,833,675	S179F	possibly damaging	Het
Catsper3	A	C	13: 55,805,748	D224A	probably damaging	Het
Ccar2	A	G	14: 70,140,497	S680P	probably damaging	Het
Ccdc18	A	G	5: 108,220,837	H1275R	possibly damaging	Het
Ccdc40	T	C	11: 119,259,904	M1011T	possibly damaging	Het
Cfap46	T	A	7: 139,683,470	D17V	probably damaging	Het
Csn1s2a	T	C	5: 87,778,199	F45L	probably benign	Het
Cwf19l2	T	G	9: 3,458,802	N750K	possibly damaging	Het
Cyb5r4	A	G	9: 87,040,409	D157G	probably benign	Het
D130040H23Rik	T	A	8: 69,302,702	I253N	probably benign	Het
Dlat	A	G	9: 50,637,574	S561P	probably damaging	Het
Dlgap2	T	A	8: 14,773,347	V522E	probably damaging	Het
Dnah5	T	A	15: 28,331,713	Y2148*	probably null	Het
Dnase2a	T	C	8: 84,908,763		probably benign	Het
Fam83f	T	C	15: 80,689,912		probably benign	Het
Foxi1	A	T	11: 34,207,937	N29K	possibly damaging	Het
Galk2	T	C	2: 125,975,263	L324P	probably benign	Het
Gdpd4	G	A	7: 97,972,955	V214I	probably benign	Het
Gfra3	C	T	18: 34,711,320	A56T	probably damaging	Het
Glyctk	A	G	9: 106,155,348	S489P	probably damaging	Het
Gm5346	A	T	8: 43,625,095	Y697*	probably null	Het
Gm884	T	C	11: 103,620,605	D179G	unknown	Het
Izumo4	A	T	10: 80,703,735	I135F	probably damaging	Het
Krt83	T	A	15: 101,487,190	T342S	probably benign	Het
L1td1	T	A	4: 98,737,477	D636E	possibly damaging	Het
Letm2	A	G	8: 25,596,444		probably benign	Het
Lpin1	A	G	12: 16,541,743	F828L	probably damaging	Het
Mdn1	T	A	4: 32,763,339	D5146E	probably damaging	Het
Megf10	T	A	18: 57,191,185	Y99*	probably null	Het
Men1	A	G	19: 6,337,630	D285G	probably damaging	Het
Mertk	T	G	2: 128,801,196	D838E	probably benign	Het
Mta1	T	C	12: 113,128,074	S266P	possibly damaging	Het
Mta3	G	A	17: 83,781,968	V320M	probably damaging	Het
Nlrp9c	G	A	7: 26,384,820	Q445*	probably null	Het
Olfr164	A	T	16: 19,286,607	N45K	probably damaging	Het
Olfr558	T	C	7: 102,709,754	I165T	possibly damaging	Het
Olfr885	A	T	9: 38,061,350	K10I	probably benign	Het
Olfr974	T	G	9: 39,942,821	I187R	probably damaging	Het
Pbrm1	T	A	14: 31,106,175	L1320I	probably damaging	Het
Pdzd2	G	T	15: 12,457,886	T297K	probably damaging	Het
Pfas	T	C	11: 68,991,969	D782G	probably damaging	Het
Pik3c3	T	C	18: 30,293,132		probably null	Het
Pira2	T	C	7: 3,844,453	N79S	probably damaging	Het
Pkdrej	G	T	15: 85,816,431	T1768K	probably damaging	Het
Plcb3	T	C	19: 6,962,985	I439V	probably benign	Het
Pold4	T	A	19: 4,232,539	Y58*	probably null	Het
Ppef2	T	G	5: 92,250,512	Q49P	probably damaging	Het
Ralgapa1	T	A	12: 55,677,032	I2026F	possibly damaging	Het
Rest	T	A	5: 77,268,362	V141E	possibly damaging	Het
Rnf139	T	C	15: 58,899,353	V409A	probably benign	Het
Rnpc3	T	C	3: 113,611,055		probably benign	Het
S100a10	A	T	3: 93,561,070	E36V	probably benign	Het
S1pr3	A	C	13: 51,419,916	K378Q	probably benign	Het
Scaper	T	A	9: 55,685,938	I472F	probably damaging	Het
Sgcg	G	A	14: 61,240,447		probably benign	Het
Shank1	A	T	7: 44,342,115	R69*	probably null	Het
Siglecf	A	G	7: 43,355,543	N399S	probably benign	Het
Slc25a54	T	A	3: 109,080,616	Y24*	probably null	Het
Slc29a4	T	C	5: 142,721,488	*529R	probably null	Het
Slc41a2	G	A	10: 83,301,165	Q293*	probably null	Het
Slc4a7	T	C	14: 14,737,509		probably null	Het
Slfn9	G	T	11: 82,981,576	T778N	probably benign	Het
Ssr2	T	C	3: 88,576,642		probably benign	Het
Tecrl	T	A	5: 83,354,859	T33S	probably benign	Het
Tnfrsf9	T	A	4: 150,934,347	C158*	probably null	Het
Tradd	T	C	8: 105,259,160	E253G	possibly damaging	Het
Usp34	A	G	11: 23,364,479	H807R	probably benign	Het
Vmn2r27	T	C	6: 124,224,211	I262M	probably benign	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Vps13a	A	G	19: 16,759,952	V91A	probably damaging	Het
Vwf	C	T	6: 125,642,939	R1527C	probably damaging	Het
Wwc1	C	T	11: 35,861,945	G763D	probably damaging	Het
Zfp526	T	G	7: 25,225,169	D284E	possibly damaging	Het
Zfp646	T	C	7: 127,883,849	F1733L	possibly damaging	Het
Zfp90	A	G	8: 106,419,123	H29R	probably benign	Het
Zkscan4	A	G	13: 21,483,934	E185G	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
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
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
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'- CATGAGCAGTCCTTTGACAAGC -3'
(R):5'- ACGTAGTGTACATGGTGAACC -3'

Sequencing Primer
(F):5'- CCAGCATTGATTTACAACGAGCATG -3'
(R):5'- GTACATGGTGAACCTTGAGTACC -3'

Posted On

2014-06-30