Mutagenetix > Incidental Mutation

Incidental Mutation 'R8089:Dennd4a'

629848

Institutional Source

Beutler Lab

Gene Symbol

Dennd4a

Ensembl Gene

ENSMUSG00000053641

Gene Name

DENN/MADD domain containing 4A

Synonyms

F730015K02Rik

MMRRC Submission

067522-MU

Accession Numbers

Essential gene?

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

Stock #

R8089 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64811340-64919667 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64849175 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 204 (N204I)

Ref Sequence

ENSEMBL: ENSMUSP00000037915 (fasta)

Gene Model

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

AlphaFold

E9Q8V6

Predicted Effect

probably damaging
Transcript: ENSMUST00000038890
AA Change: N204I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: N204I

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: 99.9%
3x: 99.7%
10x: 98.8%
20x: 94.7%

Validation Efficiency

93% (54/58)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,274,039	V768I	probably benign	Het
Abcc8	G	A	7: 46,108,356	T1323I	probably benign	Het
Adamtsl2	A	G	2: 27,104,797	M828V	probably benign	Het
Agmo	A	G	12: 37,347,307	D153G	probably benign	Het
Akap13	T	A	7: 75,610,592	V185D	possibly damaging	Het
Asic1	A	G	15: 99,698,087	N414D	probably damaging	Het
Bin1	T	A	18: 32,429,183		probably null	Het
Ccar1	C	A	10: 62,790,991	M1I	probably null	Het
Cdh26	T	A	2: 178,457,577		probably null	Het
Csmd3	C	T	15: 47,669,207	D1620N		Het
Dgkb	G	A	12: 38,184,950	S438N	probably damaging	Het
Dmxl1	T	C	18: 49,888,830	M1604T	probably damaging	Het
Fhad1	T	A	4: 141,957,660	D456V	probably damaging	Het
Gcfc2	C	T	6: 81,925,790	T86M	probably damaging	Het
Idua	T	A	5: 108,681,780	M503K	probably damaging	Het
Ighm	T	C	12: 113,421,234		probably benign	Het
Kdelc2	C	T	9: 53,395,962	A402V	probably benign	Het
Kmt2d	A	T	15: 98,842,869	S4676T	unknown	Het
Ldlrad1	G	A	4: 107,209,491	A8T	probably benign	Het
Lmtk2	G	A	5: 144,156,900	V232M	probably benign	Het
Map3k13	T	C	16: 21,903,817	V243A	possibly damaging	Het
Moxd1	A	G	10: 24,281,519	T350A	probably benign	Het
Nalcn	A	T	14: 123,299,960	W1175R	probably damaging	Het
Olfr197	T	G	16: 59,185,710	I258L	unknown	Het
Olfr819	A	T	10: 129,966,697	M1K	probably null	Het
Olfr943	T	A	9: 39,184,631	V148E	probably damaging	Het
Pacsin2	A	G	15: 83,379,696	I380T	probably benign	Het
Plcd1	A	C	9: 119,075,992	C214G	possibly damaging	Het
Ptprm	C	A	17: 66,683,488	W1385L	possibly damaging	Het
Rab22a	C	T	2: 173,688,220	Q64*	probably null	Het
Rasa2	G	T	9: 96,553,124	H604Q	probably benign	Het
Rasal1	G	A	5: 120,671,578	G516D	probably damaging	Het
Rasgrp3	A	T	17: 75,497,061	I120L	possibly damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rgs12	T	C	5: 35,020,348	I742T	probably damaging	Het
Scyl3	A	G	1: 163,936,427	T121A	possibly damaging	Het
Six5	T	G	7: 19,094,872	F79C	probably damaging	Het
Tbx3	G	A	5: 119,680,569	R423H	probably damaging	Het
Terf2ip	C	T	8: 112,011,792	T104M	probably benign	Het
Tmem135	A	G	7: 89,156,495	C234R	probably damaging	Het
Tnxb	C	G	17: 34,672,789	A702G	unknown	Het
Tspan1	T	C	4: 116,164,335	K83R	probably null	Het
Ttc30b	T	C	2: 75,937,303	T369A	possibly damaging	Het
Ttn	C	T	2: 76,898,062		probably null	Het
Usp5	A	T	6: 124,820,410		probably null	Het
Vmn1r27	T	A	6: 58,215,209	Y270F	possibly damaging	Het
Vmn2r110	G	A	17: 20,583,545	T256I	probably benign	Het
Zfp831	T	A	2: 174,644,924	L464Q	possibly damaging	Het
Zscan4-ps3	C	A	7: 11,612,732	H232N	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
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
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'- AGAGGGGAATTGTGACCTTCTG -3'
(R):5'- TTAAGACAACCTGAGACTCAAGAG -3'

Sequencing Primer
(F):5'- TGTGACCTTCTGAAAGAAAAGTAAG -3'
(R):5'- GACAGGAGCTGGAGTTCAAGTCC -3'

Posted On

2020-06-30