Mutagenetix > Incidental Mutation

Incidental Mutation 'R2049:Dennd4a'

226232

Institutional Source

Beutler Lab

Gene Symbol

Dennd4a

Ensembl Gene

ENSMUSG00000053641

Gene Name

DENN/MADD domain containing 4A

Synonyms

F730015K02Rik

MMRRC Submission

040056-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.588) question?

Stock #

R2049 (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 64889605 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 860 (T860A)

Ref Sequence

ENSEMBL: ENSMUSP00000037915 (fasta)

Gene Model

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

AlphaFold

E9Q8V6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038890
AA Change: T860A

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: T860A

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

0.0719

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (118/122)

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	G	A	14: 54,584,987	R8*	probably null	Het
Abhd17a	A	G	10: 80,585,606		probably null	Het
Acsm1	A	G	7: 119,656,039	R415G	probably damaging	Het
Acta1	G	T	8: 123,892,064	T360N	probably benign	Het
Adam6a	T	A	12: 113,544,429	S141T	probably benign	Het
Adgrd1	G	T	5: 129,115,095	K76N	probably benign	Het
Afdn	A	G	17: 13,810,433	E202G	probably damaging	Het
Agps	T	A	2: 75,858,926	M156K	probably benign	Het
Agxt	A	G	1: 93,137,315	I149V	probably benign	Het
Aqp2	A	G	15: 99,579,366	T72A	probably damaging	Het
Arhgap18	T	A	10: 26,849,942	D54E	probably benign	Het
Asb8	C	A	15: 98,136,069	E202*	probably null	Het
Bmp5	A	G	9: 75,893,790	I401V	probably damaging	Het
Bscl2	T	C	19: 8,845,320		probably null	Het
Capn9	G	A	8: 124,605,711	G430R	possibly damaging	Het
Cd55	C	T	1: 130,449,423	V333I	probably benign	Het
Cep112	A	G	11: 108,606,325	E697G	probably damaging	Het
Cerk	G	A	15: 86,142,808	S167L	probably benign	Het
Chrm3	T	A	13: 9,878,335	I222F	probably damaging	Het
Clcn6	A	G	4: 148,024,137	F145S	possibly damaging	Het
Cnksr1	A	G	4: 134,229,628	Y488H	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,122,806		probably null	Het
Commd10	A	T	18: 46,963,747	T74S	probably benign	Het
Cyp4f39	T	C	17: 32,482,138	F201L	probably benign	Het
Dlg5	A	T	14: 24,154,647	I1253N	probably damaging	Het
Dnah7b	T	A	1: 46,268,670	M3048K	probably damaging	Het
Dnah9	A	G	11: 66,044,683	M1970T	probably damaging	Het
Doxl2	T	A	6: 48,977,755	L609*	probably null	Het
Dsc3	A	T	18: 19,989,680	D62E	possibly damaging	Het
Dsel	T	C	1: 111,859,457	N1116S	probably benign	Het
Dusp7	C	T	9: 106,373,897	T407M	probably damaging	Het
Efnb1	A	G	X: 99,147,517	Y343C	probably damaging	Het
Entpd5	A	G	12: 84,396,858	I12T	probably benign	Het
Espn	T	C	4: 152,121,257	E408G	probably damaging	Het
Fam160a2	A	T	7: 105,389,839	D64E	probably damaging	Het
Gdpd3	A	G	7: 126,768,594	T200A	probably damaging	Het
Gli1	A	G	10: 127,336,727	L182P	probably damaging	Het
Gm4907	T	A	X: 23,907,310	V350E	probably benign	Het
Gm5134	G	A	10: 76,004,884	A521T	possibly damaging	Het
Gm8300	A	G	12: 87,517,276	D127G	unknown	Het
Gm960	A	G	19: 4,698,605		probably benign	Het
Gprasp1	G	A	X: 135,802,042	E995K	possibly damaging	Het
H2-M10.1	T	C	17: 36,325,216	D153G	possibly damaging	Het
Helb	A	T	10: 120,106,021	M254K	possibly damaging	Het
I0C0044D17Rik	A	G	4: 98,820,296		probably benign	Het
Igfn1	T	A	1: 135,970,638	Q730L	probably benign	Het
Igfn1	AGGG	AGG	1: 135,974,852		probably benign	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,386,268		probably benign	Het
Ipo9	A	G	1: 135,402,250	V484A	probably benign	Het
Jmjd1c	T	A	10: 67,157,998	L86*	probably null	Het
Kat5	T	A	19: 5,605,685		probably null	Het
Kif14	A	G	1: 136,487,080	N768S	probably benign	Het
Kif14	A	G	1: 136,510,167	E1199G	possibly damaging	Het
Klhl29	A	G	12: 5,137,876	S163P	probably damaging	Het
Kmt2c	C	A	5: 25,285,079	Q4287H	probably damaging	Het
Krt82	T	A	15: 101,545,156	Q265L	probably damaging	Het
Macf1	C	T	4: 123,355,102	C7210Y	probably damaging	Het
Mx2	G	A	16: 97,538,703	E20K	probably benign	Het
Myom2	T	G	8: 15,106,379	I742S	probably damaging	Het
Narf	A	T	11: 121,250,369	R310*	probably null	Het
Nktr	T	A	9: 121,741,694	D167E	probably damaging	Het
Nle1	A	G	11: 82,905,366	W183R	probably damaging	Het
Npas3	A	G	12: 54,062,088	N425S	probably damaging	Het
Obsl1	G	A	1: 75,486,756	T1764M	probably benign	Het
Olfr1197	A	T	2: 88,728,745	Y285N	probably damaging	Het
Olfr1240	C	T	2: 89,439,583	R232H	probably benign	Het
Olfr283	G	A	15: 98,378,396	T238I	possibly damaging	Het
Olfr816	A	G	10: 129,912,167	V37A	probably benign	Het
Olfr965	A	T	9: 39,720,115	D296V	probably damaging	Het
Olfr984	T	A	9: 40,101,119	I124L	probably benign	Het
Optc	A	T	1: 133,903,796		probably null	Het
Otol1	T	A	3: 70,018,836	F115I	probably benign	Het
Parp8	T	A	13: 116,894,886	D430V	probably benign	Het
Pex7	T	A	10: 19,894,315	H123L	probably damaging	Het
Pkhd1l1	T	A	15: 44,547,513		probably benign	Het
Pkhd1l1	G	A	15: 44,581,741	D3670N	probably damaging	Het
Plec	T	C	15: 76,183,174	T1331A	probably benign	Het
Plekha4	A	G	7: 45,553,798	D704G	probably benign	Het
Plxnb2	T	A	15: 89,159,002	N1453I	probably damaging	Het
Pms1	T	A	1: 53,281,988	I29F	probably damaging	Het
Ppp1r1a	G	A	15: 103,531,406	T153I	probably damaging	Het
Pramef8	T	A	4: 143,416,871	L69Q	probably damaging	Het
Prelp	C	T	1: 133,915,131	R92K	probably benign	Het
Ptpre	A	G	7: 135,670,695		probably benign	Het
Ptprt	A	T	2: 161,534,545	I1312N	probably damaging	Het
Ren1	C	G	1: 133,350,778		probably null	Het
Rims1	C	T	1: 22,596,435	C155Y	probably damaging	Het
Slitrk6	T	G	14: 110,750,794	T494P	probably benign	Het
Sltm	G	A	9: 70,581,301	G578S	probably benign	Het
Smyd5	A	G	6: 85,444,318	E338G	probably benign	Het
Snx2	G	A	18: 53,194,444	V81M	probably damaging	Het
Sp2	G	T	11: 96,961,365	N244K	probably benign	Het
Sspo	C	A	6: 48,460,763		probably benign	Het
Sspo	A	C	6: 48,463,531	D1568A	probably benign	Het
Ssrp1	T	C	2: 85,041,427		probably benign	Het
Syt2	ACTCTCTCT	ACTCTCTCTCT	1: 134,746,741		probably benign	Het
Syt7	G	A	19: 10,439,213	R138Q	probably benign	Het
Taar7f	T	C	10: 24,050,425	Y306H	possibly damaging	Het
Tbccd1	T	C	16: 22,818,541		probably null	Het
Tex261	A	G	6: 83,772,259	Y119H	probably damaging	Het
Tmem131l	T	G	3: 83,942,788	E234D	probably damaging	Het
Tnnt2	TG	TGG	1: 135,846,761		probably benign	Het
Trove2	T	C	1: 143,760,034	D458G	probably benign	Het
Ttn	C	T	2: 76,813,339	G11436R	probably damaging	Het
Ubap1	C	T	4: 41,379,257	A157V	probably damaging	Het
Ubr4	C	T	4: 139,477,207	T4810M	probably damaging	Het
Uso1	G	A	5: 92,181,936	G427R	probably damaging	Het
Usp15	A	T	10: 123,119,137	V912D	probably damaging	Het
Vmn1r20	T	C	6: 57,431,958	S90P	probably damaging	Het
Vmn1r32	T	C	6: 66,553,561	K77R	probably damaging	Het
Vmn2r100	A	G	17: 19,522,050	K229E	probably benign	Het
Vmn2r106	A	G	17: 20,268,304	V611A	possibly damaging	Het
Xrcc6	T	A	15: 82,022,977	F167I	probably damaging	Het
Zbtb21	G	T	16: 97,950,155	P804H	probably damaging	Het
Zdhhc3	T	C	9: 123,100,537	D11G	probably damaging	Het
Zfhx3	A	G	8: 108,945,177	T1324A	probably benign	Het
Zfp281	GCGGCAGCTCCGGCAGC	GCGGCAGCTCCGGCAGCTCCGGCAGC	1: 136,625,353		probably benign	Het
Zfp608	G	T	18: 54,895,565	L1259I	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
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'- CCCCAATGCAATCACTTATGG -3'
(R):5'- GTTGCTGGCTGGCATAAAACAC -3'

Sequencing Primer
(F):5'- TAGCAAAAGTAATCAGAGGCTATTG -3'
(R):5'- GAGCAGCTAGTGTTCTAAACCACTG -3'

Posted On

2014-09-17