Mutagenetix > Incidental Mutation

Incidental Mutation 'R5557:Dennd4a'

435465

Institutional Source

Beutler Lab

Gene Symbol

Dennd4a

Ensembl Gene

ENSMUSG00000053641

Gene Name

DENN/MADD domain containing 4A

Synonyms

F730015K02Rik

MMRRC Submission

043114-MU

Accession Numbers

Essential gene?

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

Stock #

R5557 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64811340-64919667 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 64904227 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1376 (D1376E)

Ref Sequence

ENSEMBL: ENSMUSP00000037915 (fasta)

Gene Model

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

AlphaFold

E9Q8V6

Predicted Effect

probably benign
Transcript: ENSMUST00000038890
AA Change: D1376E

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: D1376E

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: ENSMUST00000214029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216098

Meta Mutation Damage Score

0.0659

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (72/72)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	A	19: 3,717,501	F363I	possibly damaging	Het
Abcb1a	T	A	5: 8,714,949	N646K	probably benign	Het
Abi2	C	A	1: 60,438,912		probably benign	Het
Adamts13	T	C	2: 26,973,639	S35P	probably benign	Het
B4galt3	A	G	1: 171,272,519		probably null	Het
Bag5	T	C	12: 111,710,090	N433S	probably benign	Het
Birc7	T	A	2: 180,932,979	V218D	probably benign	Het
Catsperg1	T	G	7: 29,195,871	N332T	possibly damaging	Het
Ccdc191	A	C	16: 43,908,613	T179P	probably damaging	Het
Col4a3	C	T	1: 82,715,247		probably benign	Het
Crlf1	A	G	8: 70,498,667	I65M	probably benign	Het
Dennd4b	G	A	3: 90,268,368	R148Q	probably damaging	Het
Dlg4	C	T	11: 70,042,280	P504L	probably damaging	Het
Dopey2	A	G	16: 93,763,931	T886A	probably damaging	Het
Dst	T	A	1: 34,282,586	V4394E	probably damaging	Het
Endov	T	C	11: 119,502,360	M112T	possibly damaging	Het
Eps8	T	C	6: 137,479,096	M796V	possibly damaging	Het
Fam107b	T	A	2: 3,770,754	Y7*	probably null	Het
Farsb	C	T	1: 78,469,251		probably null	Het
Fasn	A	G	11: 120,812,426	M1591T	probably benign	Het
Fbn2	C	T	18: 58,115,659	A384T	probably benign	Het
Fnta	T	C	8: 25,999,536	D349G	probably damaging	Het
Glis3	G	T	19: 28,264,009	H842N	probably benign	Het
Gm17067	G	A	7: 42,708,521	P186S	probably damaging	Het
Gprc5c	G	T	11: 114,864,267	V257L	possibly damaging	Het
Hk3	A	T	13: 55,012,075	L362*	probably null	Het
Ing3	A	G	6: 21,968,909	H130R	possibly damaging	Het
Inpp4b	A	T	8: 81,952,259	Q306L	probably damaging	Het
Kcnq2	T	C	2: 181,134,897	K66E	probably benign	Het
Kif21b	C	A	1: 136,170,059	N1352K	probably damaging	Het
Lrig3	A	T	10: 125,972,134	N84Y	probably damaging	Het
Mill2	T	A	7: 18,855,959	Y55*	probably null	Het
Mmachc	T	C	4: 116,705,900	H86R	probably damaging	Het
Ncbp1	T	C	4: 46,165,259	V524A	probably benign	Het
Olfr1116	A	T	2: 87,269,392	T204S	possibly damaging	Het
Olfr1189	G	A	2: 88,592,553	V250M	probably damaging	Het
Olfr1453	C	A	19: 13,027,640	A230S	probably benign	Het
Olfr312	G	A	11: 58,831,987	V278I	probably benign	Het
Olfr357	T	A	2: 36,997,346	C179S	probably damaging	Het
Olfr832	T	C	9: 18,945,170	I174T	possibly damaging	Het
Pigu	G	T	2: 155,278,629	Y404*	probably null	Het
Plaa	A	T	4: 94,584,007		probably null	Het
Plcg2	A	T	8: 117,586,557	I487F	probably damaging	Het
Plekhh2	T	C	17: 84,560,152	I162T	probably benign	Het
Ptprz1	T	A	6: 23,001,001	V1030D	probably benign	Het
Raver2	C	A	4: 101,136,139	S505R	probably benign	Het
Samd7	A	T	3: 30,756,620	Q262L	probably benign	Het
Scn9a	T	A	2: 66,547,103	N412Y	probably damaging	Het
Sytl1	C	A	4: 133,259,356	R91M	probably damaging	Het
Tead3	A	T	17: 28,336,270		probably benign	Het
Tgm1	A	G	14: 55,705,643	M580T	probably benign	Het
Themis	A	T	10: 28,781,886	Q150L	possibly damaging	Het
Tmem213	T	C	6: 38,109,531	S41P	possibly damaging	Het
Tnks1bp1	T	C	2: 85,063,800	V695A	probably damaging	Het
Trim23	A	T	13: 104,187,509	T159S	probably damaging	Het
Trim66	T	C	7: 109,483,737	Y166C	probably benign	Het
Troap	A	T	15: 99,075,794	T111S	possibly damaging	Het
Ttn	T	C	2: 76,890,390		probably null	Het
Tub	T	G	7: 109,025,718	S180A	probably damaging	Het
Vcan	A	G	13: 89,703,112	V1243A	possibly damaging	Het
Zfp608	T	C	18: 54,987,870	D215G	possibly damaging	Het
Zfp638	T	A	6: 83,967,363	V1021E	probably damaging	Het
Zim1	T	A	7: 6,677,711	I318F	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
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
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'- GTTGCTCACCTGGTAGAAGG -3'
(R):5'- TCAAAGGGCCCTGATTTTGCC -3'

Sequencing Primer
(F):5'- CCTGGTAGAAGGTAATAGGTAGTTG -3'
(R):5'- GGCCCTGATTTTGCCCACAC -3'

Posted On

2016-10-24