Mutagenetix > Incidental Mutations

Incidental Mutation 'R7976:Dennd4a'

650920

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 non essential (E-score: 0.481) question?

Stock #

R7976 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64811340-64919667 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 64852512 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 300 (G300W)

Ref Sequence

ENSEMBL: ENSMUSP00000037915 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038890
AA Change: G300W

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: G300W

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: 99.8%
20x: 99.2%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adssl1	A	C	12: 112,636,397	I341L	probably benign	Het
Aldh1b1	T	A	4: 45,803,092	M210K	possibly damaging	Het
Ankrd17	G	A	5: 90,283,592	Q778*	probably null	Het
Bmper	T	C	9: 23,406,810	V575A	probably damaging	Het
Brinp2	A	G	1: 158,246,343	V736A	probably benign	Het
Ccdc81	A	T	7: 89,866,515	L652*	probably null	Het
Cdt1	C	T	8: 122,571,846	R437W	probably damaging	Het
Ckb	A	C	12: 111,671,032	L165R	possibly damaging	Het
Col25a1	G	T	3: 130,496,426	G255V	probably damaging	Het
Ddx17	A	G	15: 79,535,955		probably null	Het
Ddx58	T	C	4: 40,209,894	M725V	probably damaging	Het
Dlg4	T	A	11: 70,039,182	I316N	probably damaging	Het
Dlgap2	C	T	8: 14,743,410	P467L	probably benign	Het
Dnah9	T	C	11: 65,841,401	I4226M	possibly damaging	Het
Drc1	G	A	5: 30,364,485	A734T	probably benign	Het
Entpd1	A	G	19: 40,612,421	M1V	probably null	Het
Exph5	T	G	9: 53,376,635	I1672S	possibly damaging	Het
Fam149b	T	A	14: 20,377,784	D379E	probably damaging	Het
Fgfr2	T	C	7: 130,185,344	T461A	probably damaging	Het
Frem1	A	G	4: 83,001,709	V469A	probably damaging	Het
Frem3	A	T	8: 80,611,602	K175*	probably null	Het
Fsd2	C	T	7: 81,559,881	G71E	probably benign	Het
Gcat	T	C	15: 79,034,988	I116T	probably damaging	Het
Gigyf2	G	A	1: 87,403,736	S202N	unknown	Het
Glra3	T	G	8: 56,112,876		probably null	Het
Golga4	C	T	9: 118,536,768	T296I	possibly damaging	Het
Herc1	C	T	9: 66,434,270	T1816I	possibly damaging	Het
Igfbpl1	C	A	4: 45,826,786	R3L	unknown	Het
Ighv15-2	A	T	12: 114,564,850	S28T	probably benign	Het
Kat2b	T	A	17: 53,648,807	M427K	probably benign	Het
Kdm4c	A	G	4: 74,377,669	T882A	probably damaging	Het
Kif1a	G	T	1: 93,039,774	F1138L	probably damaging	Het
Klhl20	A	T	1: 161,106,737	S237R	probably benign	Het
Lamc1	A	T	1: 153,247,268	N725K	probably damaging	Het
Lmtk3	A	G	7: 45,795,466	D1191G	unknown	Het
Ltbp1	C	A	17: 75,363,363	N1466K	possibly damaging	Het
Ly75	T	C	2: 60,365,088	E242G	probably damaging	Het
Lyrm1	T	C	7: 119,916,226	V113A	probably benign	Het
Mfsd13a	G	T	19: 46,372,007	A333S	probably benign	Het
Mllt10	T	C	2: 18,162,403	S380P	possibly damaging	Het
Mrc2	A	G	11: 105,348,003	K1295E	possibly damaging	Het
Muc5ac	A	T	7: 141,809,791	I2280F	unknown	Het
Neurod2	A	C	11: 98,327,197	F380L	probably damaging	Het
Ntrk3	G	A	7: 78,356,206	A469V	probably damaging	Het
Nup205	T	C	6: 35,198,953	F584L	probably damaging	Het
Oas1d	A	T	5: 120,919,147	Y272F	probably damaging	Het
Olfm3	T	C	3: 115,081,145	V30A	probably benign	Het
Olfr1054	A	G	2: 86,332,720	V212A	probably benign	Het
Olfr1215	T	A	2: 89,001,629	I220F	probably damaging	Het
Olfr1472	A	G	19: 13,454,199	I106T	probably benign	Het
Pcdhga12	A	G	18: 37,768,374	Y753C	probably damaging	Het
Phox2b	A	G	5: 67,096,171	V294A	unknown	Het
Prdm2	A	T	4: 143,133,242	C1159*	probably null	Het
Ptpn12	G	T	5: 21,002,633	S275*	probably null	Het
Rnf223	A	T	4: 156,132,319	E50D	probably damaging	Het
Rrp12	A	T	19: 41,891,109	Y169N	probably benign	Het
Sgip1	T	C	4: 102,900,539		probably null	Het
Shank2	T	C	7: 144,411,061	I802T	probably damaging	Het
Skint2	A	T	4: 112,624,132	N64I	probably damaging	Het
Smpd3	A	C	8: 106,255,622	C617G	probably benign	Het
Tmem106c	G	C	15: 97,968,104	G192R	probably damaging	Het
Tmem72	T	C	6: 116,696,839	H106R	probably damaging	Het
Upf2	G	C	2: 6,026,115	V789L	unknown	Het
Vash1	A	G	12: 86,679,984		probably benign	Het
Vmn1r201	T	A	13: 22,474,705	Y30N	probably benign	Het
Xpr1	A	G	1: 155,290,289	F571L	possibly damaging	Het
Yif1a	T	C	19: 5,089,787	S87P	probably damaging	Het
Zer1	T	C	2: 30,107,508	Y462C	probably damaging	Het
Zfp597	G	A	16: 3,866,511	P127L	possibly damaging	Het
Zxdc	T	C	6: 90,398,767	S742P	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
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
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'- CCGCTAAATACTCAGCTGATCATC -3'
(R):5'- CATCTTGGATTGTCAATGCTTTCTG -3'

Sequencing Primer
(F):5'- ATACTCAGCTGATCATCTGTTTTG -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'

Posted On

2020-09-15