Mutagenetix > Incidental Mutation

Incidental Mutation 'R7056:Dennd4a'

547928

Institutional Source

Beutler Lab

Gene Symbol

Dennd4a

Ensembl Gene

ENSMUSG00000053641

Gene Name

DENN/MADD domain containing 4A

Synonyms

F730015K02Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.573) question?

Stock #

R7056 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64811340-64919667 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64906923 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1474 (D1474G)

Ref Sequence

ENSEMBL: ENSMUSP00000037915 (fasta)

Gene Model

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

AlphaFold

E9Q8V6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038890
AA Change: D1474G

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: D1474G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atr	T	A	9: 95,862,863	S78T	probably damaging	Het
B2m	T	C	2: 122,150,984	L60P	probably damaging	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Cep350	A	C	1: 155,848,627	I3075S	probably damaging	Het
Cep97	A	G	16: 55,905,572	S651P	probably damaging	Het
Chrna5	C	T	9: 54,981,701		probably benign	Het
Cog5	T	C	12: 31,665,469	V80A	possibly damaging	Het
Col9a2	G	A	4: 121,049,716		probably null	Het
Cop1	C	T	1: 159,250,077	L161F	probably damaging	Het
Cyp4f17	A	T	17: 32,527,872	M383L	possibly damaging	Het
Dgkb	A	C	12: 38,100,493	S100R	probably benign	Het
Dnah17	A	G	11: 118,125,386	V309A	probably benign	Het
Dner	C	A	1: 84,580,736	R169L	possibly damaging	Het
Dus1l	T	C	11: 120,791,294	E362G	probably benign	Het
Eed	A	T	7: 89,970,356	S168T	possibly damaging	Het
Eif3a	T	A	19: 60,763,062		probably null	Het
Fam234b	A	G	6: 135,228,452	S472G	probably benign	Het
Fbn2	T	A	18: 58,076,726	T1028S	probably benign	Het
Fbxw16	A	G	9: 109,436,284	V393A	possibly damaging	Het
Fig4	A	T	10: 41,220,932	L838Q	probably benign	Het
Gm13941	T	G	2: 111,096,802	S137R	unknown	Het
Gm9938	T	G	19: 23,724,617		probably benign	Het
Igsf10	T	G	3: 59,331,080	D560A	probably damaging	Het
Lrrk2	T	A	15: 91,774,995	L1870*	probably null	Het
Mep1b	T	A	18: 21,091,190	Y347N	probably damaging	Het
Mepce	T	C	5: 137,782,706	N613D	probably damaging	Het
Mgat3	T	G	15: 80,211,896	L308R	probably damaging	Het
Morc2a	A	G	11: 3,675,925	Y175C	probably damaging	Het
Necab2	A	G	8: 119,452,139	N98S	probably benign	Het
Net1	T	C	13: 3,884,845	M394V	probably benign	Het
Nfat5	G	A	8: 107,368,106	G993D	probably damaging	Het
Obscn	C	A	11: 58,996,296		probably benign	Het
Olfr1313	T	C	2: 112,072,317	N89D	probably benign	Het
Olfr324	A	G	11: 58,598,218	Y274C	probably damaging	Het
Olr1	T	C	6: 129,488,941	H34R	probably damaging	Het
Pmm2	T	A	16: 8,642,764	F27L	probably damaging	Het
Ptpdc1	C	A	13: 48,586,990	V261F	possibly damaging	Het
Pyroxd1	G	T	6: 142,359,082	R345L	probably benign	Het
Radil	A	T	5: 142,494,354	C670*	probably null	Het
Rasgrf2	C	T	13: 92,030,695	S290N	probably damaging	Het
Rbm33	T	C	5: 28,394,003		probably benign	Het
Rnf111	A	T	9: 70,453,675	S501R	possibly damaging	Het
Sel1l2	T	A	2: 140,245,414	I446F	probably benign	Het
Sh3pxd2b	T	C	11: 32,422,737	S635P	probably benign	Het
Slc30a2	G	A	4: 134,347,415	R161Q	probably damaging	Het
Smg1	T	C	7: 118,146,400		probably benign	Het
Sorcs2	C	A	5: 36,068,130	D132Y	probably damaging	Het
Sox18	T	C	2: 181,671,487	D12G	probably damaging	Het
Srsf4	G	T	4: 131,900,693		probably benign	Het
Susd4	C	A	1: 182,833,156	T81N	probably benign	Het
Tmem256	G	T	11: 69,838,590		probably benign	Het
Tor4a	T	C	2: 25,194,841	H350R	probably benign	Het
Ugt2a3	T	A	5: 87,337,094	S24C	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r77	C	T	7: 86,801,815	T303I	probably benign	Het
Wdr70	T	A	15: 7,884,396	I591F	possibly damaging	Het
Wdr93	T	C	7: 79,749,340	I74T	probably damaging	Het
Zfp292	A	T	4: 34,809,784	C1087S	probably damaging	Het
Zfp592	T	A	7: 81,023,319	D10E	probably damaging	Het
Zfp69	A	G	4: 120,931,098	V340A	probably benign	Het
Zswim2	C	T	2: 83,920,748		probably null	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
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
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'- TGCCATGGAGTCTTTGTTACTAC -3'
(R):5'- CTTGTCCGACTTGCAAAGTGC -3'

Sequencing Primer
(F):5'- ACTACGGTGTGTTTTCCTTTGTAATC -3'
(R):5'- GATGAGCTGGACTTCAAGAAATATC -3'

Posted On

2019-05-13