Mutagenetix > Incidental Mutation

Incidental Mutation 'R8397:Dennd4a'

647663

Institutional Source

Beutler Lab

Gene Symbol

Dennd4a

Ensembl Gene

ENSMUSG00000053641

Gene Name

DENN/MADD domain containing 4A

Synonyms

F730015K02Rik

MMRRC Submission

067760-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.432) question?

Stock #

R8397 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64811340-64919667 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64889109 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 806 (M806L)

Ref Sequence

ENSEMBL: ENSMUSP00000037915 (fasta)

Gene Model

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

AlphaFold

E9Q8V6

Predicted Effect

probably benign
Transcript: ENSMUST00000038890
AA Change: M806L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: M806L

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: 99.9%
10x: 99.7%
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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	A	G	8: 95,040,513 (GRCm38)	T499A	probably benign	Het
Ahsa1	G	T	12: 87,273,677 (GRCm38)	E311*	probably null	Het
Apol9a	C	T	15: 77,404,613 (GRCm38)	V185I	probably benign	Het
Arhgap27	T	A	11: 103,333,247 (GRCm38)	D580V	probably damaging	Het
Arpp21	A	C	9: 112,149,372 (GRCm38)	S298A	possibly damaging	Het
B4galnt2	T	A	11: 95,866,163 (GRCm38)	T481S	probably benign	Het
Cct8	G	A	16: 87,493,763 (GRCm38)	R59C	possibly damaging	Het
Cdhr5	C	T	7: 141,271,888 (GRCm38)	G501E	possibly damaging	Het
Chka	G	A	19: 3,852,414 (GRCm38)		probably null	Het
Cit	C	A	5: 115,886,797 (GRCm38)	N366K	probably benign	Het
Dhx9	T	A	1: 153,468,911 (GRCm38)	H510L	probably damaging	Het
Esyt3	C	T	9: 99,327,913 (GRCm38)	V305I	probably benign	Het
Fbxo40	A	T	16: 36,970,623 (GRCm38)	C42S	probably damaging	Het
Fbxw26	T	C	9: 109,732,647 (GRCm38)	M160V	probably damaging	Het
Frem2	A	G	3: 53,653,141 (GRCm38)	V1315A	probably benign	Het
Gbp9	T	A	5: 105,083,598 (GRCm38)	N374I	possibly damaging	Het
Gm11992	T	G	11: 9,061,305 (GRCm38)	S249A	probably damaging	Het
Gm14418	T	A	2: 177,387,293 (GRCm38)	Q303L	probably damaging	Het
Hectd4	C	A	5: 121,259,894 (GRCm38)	P295Q	probably damaging	Het
Kdm2b	T	C	5: 122,880,516 (GRCm38)	N954D	probably benign	Het
Klf15	C	T	6: 90,466,796 (GRCm38)	H118Y	probably damaging	Het
Lrit2	G	T	14: 37,069,077 (GRCm38)	A238S	probably damaging	Het
Man2c1	A	C	9: 57,135,499 (GRCm38)	M218L	probably benign	Het
Map3k1	T	A	13: 111,755,604 (GRCm38)	H1039L	probably damaging	Het
Map3k9	A	G	12: 81,722,362 (GRCm38)	S971P	probably benign	Het
Map4k3	C	T	17: 80,664,017 (GRCm38)	V74I	probably damaging	Het
Mars	A	T	10: 127,300,499 (GRCm38)	S486T	possibly damaging	Het
Mettl13	A	T	1: 162,544,318 (GRCm38)	S327R	possibly damaging	Het
Mkks	G	A	2: 136,881,003 (GRCm38)	T78M	possibly damaging	Het
Mst1	C	T	9: 108,081,499 (GRCm38)		probably benign	Het
Myh1	G	T	11: 67,221,639 (GRCm38)	A1811S	probably damaging	Het
Myh13	A	G	11: 67,350,287 (GRCm38)	H830R	possibly damaging	Het
Nek4	A	G	14: 30,970,548 (GRCm38)	D443G	possibly damaging	Het
Nf1	T	C	11: 79,547,692 (GRCm38)	L137P	probably damaging	Het
Nipsnap3b	T	C	4: 53,012,049 (GRCm38)		probably null	Het
Nos1ap	G	T	1: 170,327,625 (GRCm38)	P220T	unknown	Het
Nrxn3	T	A	12: 90,331,809 (GRCm38)	I368N	probably benign	Het
Nup133	T	A	8: 123,922,417 (GRCm38)	Q562L	probably benign	Het
Nup214	T	A	2: 31,990,254 (GRCm38)	L342Q	probably damaging	Het
Nxn	A	G	11: 76,272,406 (GRCm38)	S264P	probably damaging	Het
Olfr739	G	T	14: 50,424,680 (GRCm38)	D54Y	probably damaging	Het
Otud4	T	C	8: 79,669,298 (GRCm38)	S567P	probably benign	Het
Patl2	A	C	2: 122,125,273 (GRCm38)	S261A	probably damaging	Het
Pcdh15	C	T	10: 74,291,033 (GRCm38)	P315S	probably damaging	Het
Pcm1	T	A	8: 41,283,579 (GRCm38)	H827Q	probably damaging	Het
Pirb	G	A	7: 3,716,046 (GRCm38)	L615F	probably damaging	Het
Ppp1r12c	T	A	7: 4,489,769 (GRCm38)	H236L	probably damaging	Het
Prkd1	C	T	12: 50,392,892 (GRCm38)	G384E	probably benign	Het
Rmnd1	C	A	10: 4,427,278 (GRCm38)	E134*	probably null	Het
Rusc2	T	A	4: 43,424,206 (GRCm38)	H1090Q	possibly damaging	Het
Sema5b	A	C	16: 35,651,321 (GRCm38)	Y428S	possibly damaging	Het
Slc2a8	T	A	2: 32,975,998 (GRCm38)	I301L	probably benign	Het
Slc38a11	C	T	2: 65,330,291 (GRCm38)	V320M	probably damaging	Het
Slc4a5	G	T	6: 83,289,326 (GRCm38)		probably null	Het
Slc7a6	T	C	8: 106,193,533 (GRCm38)	I320T	probably damaging	Het
Slc8a3	A	G	12: 81,199,768 (GRCm38)	I837T	probably benign	Het
Spag1	C	T	15: 36,197,749 (GRCm38)	R286*	probably null	Het
Tlr3	A	T	8: 45,398,859 (GRCm38)	F334I	possibly damaging	Het
Unc13b	A	G	4: 43,217,290 (GRCm38)	I530V	probably benign	Het
Vmn2r68	T	C	7: 85,237,514 (GRCm38)	D64G	possibly damaging	Het
Zfp157	T	A	5: 138,456,256 (GRCm38)	Y239N	probably damaging	Het

Other mutations in Dennd4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Dennd4a	APN	9	64,911,762 (GRCm38)	missense	probably damaging	1.00
IGL01610:Dennd4a	APN	9	64,906,884 (GRCm38)	missense	probably damaging	0.99
IGL01788:Dennd4a	APN	9	64,842,621 (GRCm38)	missense	probably benign	0.00
IGL01827:Dennd4a	APN	9	64,842,561 (GRCm38)	nonsense	probably null
IGL01828:Dennd4a	APN	9	64,842,561 (GRCm38)	nonsense	probably null
IGL01829:Dennd4a	APN	9	64,842,561 (GRCm38)	nonsense	probably null
IGL01979:Dennd4a	APN	9	64,894,409 (GRCm38)	missense	probably benign	0.00
IGL02100:Dennd4a	APN	9	64,909,706 (GRCm38)	splice site	probably benign
IGL02339:Dennd4a	APN	9	64,842,561 (GRCm38)	nonsense	probably null
IGL02341:Dennd4a	APN	9	64,842,561 (GRCm38)	nonsense	probably null
IGL02584:Dennd4a	APN	9	64,851,298 (GRCm38)	missense	probably damaging	1.00
IGL02607:Dennd4a	APN	9	64,862,327 (GRCm38)	missense	probably damaging	0.99
IGL02654:Dennd4a	APN	9	64,910,191 (GRCm38)	splice site	probably benign
IGL02701:Dennd4a	APN	9	64,897,353 (GRCm38)	missense	possibly damaging	0.50
IGL03051:Dennd4a	APN	9	64,862,414 (GRCm38)	missense	probably damaging	1.00
IGL03257:Dennd4a	APN	9	64,871,874 (GRCm38)	missense	possibly damaging	0.93
IGL03346:Dennd4a	APN	9	64,888,526 (GRCm38)	missense	possibly damaging	0.47
IGL03349:Dennd4a	APN	9	64,888,974 (GRCm38)	missense	probably damaging	1.00
IGL03398:Dennd4a	APN	9	64,871,882 (GRCm38)	missense	probably benign	0.32
R0010:Dennd4a	UTSW	9	64,896,715 (GRCm38)	missense	probably benign	0.00
R0010:Dennd4a	UTSW	9	64,896,715 (GRCm38)	missense	probably benign	0.00
R0129:Dennd4a	UTSW	9	64,893,294 (GRCm38)	missense	probably damaging	1.00
R0220:Dennd4a	UTSW	9	64,852,445 (GRCm38)	missense	probably damaging	1.00
R0396:Dennd4a	UTSW	9	64,862,391 (GRCm38)	missense	probably damaging	1.00
R0881:Dennd4a	UTSW	9	64,851,383 (GRCm38)	critical splice donor site	probably null
R1225:Dennd4a	UTSW	9	64,911,675 (GRCm38)	missense	probably benign	0.03
R1311:Dennd4a	UTSW	9	64,910,004 (GRCm38)	missense	probably benign	0.34
R1448:Dennd4a	UTSW	9	64,906,045 (GRCm38)	missense	possibly damaging	0.95
R1450:Dennd4a	UTSW	9	64,911,665 (GRCm38)	missense	probably benign	0.03
R1630:Dennd4a	UTSW	9	64,871,882 (GRCm38)	missense	probably benign	0.32
R1709:Dennd4a	UTSW	9	64,889,605 (GRCm38)	missense	possibly damaging	0.92
R1824:Dennd4a	UTSW	9	64,859,358 (GRCm38)	critical splice donor site	probably null
R1851:Dennd4a	UTSW	9	64,862,030 (GRCm38)	missense	probably damaging	1.00
R1870:Dennd4a	UTSW	9	64,897,234 (GRCm38)	missense	probably benign	0.00
R1900:Dennd4a	UTSW	9	64,897,336 (GRCm38)	missense	probably damaging	0.99
R1911:Dennd4a	UTSW	9	64,889,086 (GRCm38)	missense	probably damaging	1.00
R1938:Dennd4a	UTSW	9	64,842,490 (GRCm38)	missense	probably damaging	1.00
R1954:Dennd4a	UTSW	9	64,852,467 (GRCm38)	missense	probably benign	0.02
R1955:Dennd4a	UTSW	9	64,852,467 (GRCm38)	missense	probably benign	0.02
R2049:Dennd4a	UTSW	9	64,889,605 (GRCm38)	missense	possibly damaging	0.92
R2129:Dennd4a	UTSW	9	64,905,974 (GRCm38)	splice site	probably null
R2138:Dennd4a	UTSW	9	64,889,337 (GRCm38)	missense	probably damaging	1.00
R2929:Dennd4a	UTSW	9	64,852,417 (GRCm38)	missense	possibly damaging	0.85
R3083:Dennd4a	UTSW	9	64,906,081 (GRCm38)	missense	probably benign	0.03
R3108:Dennd4a	UTSW	9	64,912,387 (GRCm38)	missense	probably benign	0.23
R3176:Dennd4a	UTSW	9	64,888,993 (GRCm38)	missense	probably damaging	1.00
R3177:Dennd4a	UTSW	9	64,888,993 (GRCm38)	missense	probably damaging	1.00
R3276:Dennd4a	UTSW	9	64,888,993 (GRCm38)	missense	probably damaging	1.00
R3277:Dennd4a	UTSW	9	64,888,993 (GRCm38)	missense	probably damaging	1.00
R3890:Dennd4a	UTSW	9	64,872,028 (GRCm38)	missense	probably damaging	1.00
R3953:Dennd4a	UTSW	9	64,852,575 (GRCm38)	missense	probably damaging	1.00
R3963:Dennd4a	UTSW	9	64,862,331 (GRCm38)	missense	probably damaging	1.00
R4059:Dennd4a	UTSW	9	64,911,892 (GRCm38)	missense	possibly damaging	0.92
R4499:Dennd4a	UTSW	9	64,910,123 (GRCm38)	missense	possibly damaging	0.78
R4500:Dennd4a	UTSW	9	64,910,123 (GRCm38)	missense	possibly damaging	0.78
R4501:Dennd4a	UTSW	9	64,910,123 (GRCm38)	missense	possibly damaging	0.78
R4671:Dennd4a	UTSW	9	64,894,407 (GRCm38)	missense	probably benign
R4701:Dennd4a	UTSW	9	64,897,357 (GRCm38)	missense	possibly damaging	0.91
R4821:Dennd4a	UTSW	9	64,897,249 (GRCm38)	missense	possibly damaging	0.92
R4829:Dennd4a	UTSW	9	64,889,056 (GRCm38)	missense	probably damaging	1.00
R4876:Dennd4a	UTSW	9	64,896,590 (GRCm38)	missense	probably benign
R4881:Dennd4a	UTSW	9	64,838,844 (GRCm38)	missense	possibly damaging	0.77
R4962:Dennd4a	UTSW	9	64,906,003 (GRCm38)	missense	probably benign	0.00
R5225:Dennd4a	UTSW	9	64,888,928 (GRCm38)	missense	possibly damaging	0.94
R5557:Dennd4a	UTSW	9	64,904,227 (GRCm38)	missense	probably benign	0.07
R5649:Dennd4a	UTSW	9	64,851,209 (GRCm38)	splice site	probably null
R5868:Dennd4a	UTSW	9	64,896,729 (GRCm38)	missense	probably benign	0.02
R5876:Dennd4a	UTSW	9	64,911,755 (GRCm38)	missense	probably damaging	1.00
R6052:Dennd4a	UTSW	9	64,886,945 (GRCm38)	missense	probably damaging	1.00
R6411:Dennd4a	UTSW	9	64,871,899 (GRCm38)	missense	probably benign	0.04
R6596:Dennd4a	UTSW	9	64,852,420 (GRCm38)	missense	probably damaging	1.00
R6668:Dennd4a	UTSW	9	64,886,965 (GRCm38)	missense	probably damaging	1.00
R6915:Dennd4a	UTSW	9	64,852,489 (GRCm38)	nonsense	probably null
R7056:Dennd4a	UTSW	9	64,906,923 (GRCm38)	missense	possibly damaging	0.89
R7107:Dennd4a	UTSW	9	64,894,399 (GRCm38)	missense	possibly damaging	0.79
R7203:Dennd4a	UTSW	9	64,896,474 (GRCm38)	missense	probably benign	0.05
R7238:Dennd4a	UTSW	9	64,861,956 (GRCm38)	missense	probably damaging	1.00
R7373:Dennd4a	UTSW	9	64,897,269 (GRCm38)	missense	probably benign	0.01
R7454:Dennd4a	UTSW	9	64,852,570 (GRCm38)	missense	probably damaging	1.00
R7546:Dennd4a	UTSW	9	64,873,044 (GRCm38)	missense	probably damaging	1.00
R7590:Dennd4a	UTSW	9	64,888,587 (GRCm38)	missense	probably benign	0.01
R7662:Dennd4a	UTSW	9	64,852,431 (GRCm38)	missense	probably damaging	1.00
R7782:Dennd4a	UTSW	9	64,906,920 (GRCm38)	missense	probably damaging	0.98
R7909:Dennd4a	UTSW	9	64,872,993 (GRCm38)	critical splice acceptor site	probably null
R7976:Dennd4a	UTSW	9	64,852,512 (GRCm38)	missense	possibly damaging	0.95
R8026:Dennd4a	UTSW	9	64,873,030 (GRCm38)	missense	probably damaging	1.00
R8034:Dennd4a	UTSW	9	64,888,568 (GRCm38)	missense	probably benign	0.01
R8089:Dennd4a	UTSW	9	64,849,175 (GRCm38)	missense	probably damaging	1.00
R8298:Dennd4a	UTSW	9	64,906,875 (GRCm38)	missense	probably benign	0.00
R8425:Dennd4a	UTSW	9	64,838,974 (GRCm38)	missense	probably damaging	1.00
R8495:Dennd4a	UTSW	9	64,886,879 (GRCm38)	missense	probably damaging	1.00
R8855:Dennd4a	UTSW	9	64,912,390 (GRCm38)	missense	probably benign
R9219:Dennd4a	UTSW	9	64,889,094 (GRCm38)	missense	probably damaging	0.96
R9275:Dennd4a	UTSW	9	64,842,624 (GRCm38)	missense	probably damaging	1.00
R9376:Dennd4a	UTSW	9	64,912,692 (GRCm38)	missense	probably benign	0.00
R9485:Dennd4a	UTSW	9	64,907,106 (GRCm38)	nonsense	probably null
R9672:Dennd4a	UTSW	9	64,893,358 (GRCm38)	missense	probably benign
R9746:Dennd4a	UTSW	9	64,894,511 (GRCm38)	missense	probably benign
X0026:Dennd4a	UTSW	9	64,897,320 (GRCm38)	missense	possibly damaging	0.67
Z1088:Dennd4a	UTSW	9	64,872,022 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAAGTCAGCCCATAAGATCG -3'
(R):5'- TGATTGCATTGGGGTCAATACC -3'

Sequencing Primer
(F):5'- ATCGCAAAGAGGTATTCTTCTATCCC -3'
(R):5'- GCTTTCTGCATTTCAAAAAGCACTCG -3'

Posted On

2020-09-02