Mutagenetix > Incidental Mutation

Incidental Mutation 'R0220:Dennd4a'

33793

Institutional Source

Beutler Lab

Gene Symbol

Dennd4a

Ensembl Gene

ENSMUSG00000053641

Gene Name

DENN/MADD domain containing 4A

Synonyms

F730015K02Rik

MMRRC Submission

038469-MU

Accession Numbers

Essential gene?

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

Stock #

R0220 (G1)

Quality Score

197

Status

Not validated

Chromosome

Chromosomal Location

64811340-64919667 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 64852445 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 277 (E277D)

Ref Sequence

ENSEMBL: ENSMUSP00000037915 (fasta)

Gene Model

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

AlphaFold

E9Q8V6

Predicted Effect

probably damaging
Transcript: ENSMUST00000038890
AA Change: E277D

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

SMART Domains

Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: E277D

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: ENSMUST00000215025

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.6%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,148,420 (GRCm38)		probably null	Het
Abcc5	A	G	16: 20,369,102 (GRCm38)	V863A	probably benign	Het
Anxa6	A	C	11: 54,981,762 (GRCm38)		probably null	Het
Armc10	A	G	5: 21,661,584 (GRCm38)	K296R	probably benign	Het
Arpc2	T	A	1: 74,248,134 (GRCm38)	F38I	probably damaging	Het
Ass1	A	T	2: 31,514,819 (GRCm38)	N371Y	probably damaging	Het
Bcl6	T	A	16: 23,966,219 (GRCm38)	H677L	possibly damaging	Het
Bcl7a	G	A	5: 123,351,919 (GRCm38)	V49I	probably damaging	Het
Ccnj	T	C	19: 40,844,810 (GRCm38)	L144P	probably damaging	Het
Cdh8	G	T	8: 99,111,679 (GRCm38)	P510T	probably benign	Het
Cgnl1	C	A	9: 71,724,943 (GRCm38)	K375N	possibly damaging	Het
Cubn	C	A	2: 13,356,709 (GRCm38)	R1695L	probably damaging	Het
Cyp3a59	G	A	5: 146,098,270 (GRCm38)	V253I	probably benign	Het
Cyp4f13	A	G	17: 32,929,502 (GRCm38)	I208T	probably damaging	Het
Depdc1a	G	A	3: 159,523,905 (GRCm38)	V625I	probably benign	Het
Dot1l	A	T	10: 80,785,858 (GRCm38)	D448V	probably damaging	Het
Efhc1	A	G	1: 20,967,358 (GRCm38)	D253G	probably damaging	Het
Eme1	T	A	11: 94,650,258 (GRCm38)	E246V	probably null	Het
Foxred1	A	G	9: 35,209,453 (GRCm38)	L128P	probably damaging	Het
Gm14124	A	T	2: 150,268,675 (GRCm38)	Q428H	unknown	Het
Gm4787	G	T	12: 81,378,648 (GRCm38)	S245R	probably damaging	Het
Gm5141	T	A	13: 62,774,457 (GRCm38)	K299N	probably damaging	Het
Greb1	C	A	12: 16,682,286 (GRCm38)	R1558L	probably damaging	Het
Ip6k3	A	T	17: 27,145,229 (GRCm38)	F282I	probably damaging	Het
Kdm2a	T	C	19: 4,324,919 (GRCm38)	D288G	possibly damaging	Het
Kdm4d	A	T	9: 14,463,122 (GRCm38)	V480E	probably benign	Het
Kif26a	A	T	12: 112,157,390 (GRCm38)	Q143L	probably damaging	Het
Klhl41	G	A	2: 69,670,485 (GRCm38)	D97N	probably benign	Het
Krt34	C	T	11: 100,038,693 (GRCm38)		probably benign	Het
Lcn11	A	T	2: 25,777,831 (GRCm38)	H77L	probably benign	Het
Megf6	G	A	4: 154,258,215 (GRCm38)	R529H	probably damaging	Het
Mipol1	A	G	12: 57,457,150 (GRCm38)	E368G	probably damaging	Het
Mtus1	A	T	8: 40,994,572 (GRCm38)	M442K	probably damaging	Het
Naca	T	C	10: 128,043,386 (GRCm38)		probably benign	Het
Nbea	G	A	3: 56,005,303 (GRCm38)	T1021I	probably benign	Het
Nfib	A	T	4: 82,296,776 (GRCm38)	V530E	probably damaging	Het
Nptx1	A	G	11: 119,544,641 (GRCm38)	V283A	probably damaging	Het
Olfr1261	G	T	2: 89,993,862 (GRCm38)	L156F	probably benign	Het
Olfr190	A	T	16: 59,074,732 (GRCm38)	M116K	probably damaging	Het
Opn5	A	G	17: 42,596,604 (GRCm38)	V127A	probably benign	Het
Pcgf6	A	G	19: 47,040,090 (GRCm38)	V291A	probably benign	Het
Pilrb2	C	A	5: 137,871,197 (GRCm38)	R47L	probably benign	Het
Prom2	A	C	2: 127,541,107 (GRCm38)	S72A	probably benign	Het
Sema3e	T	C	5: 14,164,153 (GRCm38)	F144S	possibly damaging	Het
Sephs1	A	G	2: 4,899,560 (GRCm38)	T250A	probably benign	Het
Smarcc2	A	T	10: 128,483,636 (GRCm38)	D798V	probably benign	Het
Taf5	T	C	19: 47,080,560 (GRCm38)	S563P	probably damaging	Het
Topaz1	A	G	9: 122,749,303 (GRCm38)	H426R	possibly damaging	Het
Tpgs1	T	A	10: 79,675,437 (GRCm38)	C138S	possibly damaging	Het
Traf1	A	T	2: 34,949,103 (GRCm38)	V70D	probably benign	Het
Ttn	T	C	2: 76,811,393 (GRCm38)	Y13453C	probably damaging	Het
Ubxn4	T	A	1: 128,256,194 (GRCm38)	V97D	possibly damaging	Het
Ugt1a8	A	T	1: 88,088,335 (GRCm38)	I157L	probably benign	Het
Vmn2r13	A	T	5: 109,156,466 (GRCm38)	C700S	probably damaging	Het
Wee1	A	T	7: 110,124,526 (GRCm38)	D216V	probably benign	Het
Zc3h4	T	C	7: 16,429,273 (GRCm38)	Y533H	unknown	Het
Zfp81	A	G	17: 33,336,724 (GRCm38)	I43T	possibly damaging	Het
Zfp963	A	T	8: 69,743,495 (GRCm38)	Y103N	probably benign	Het
Zfp963	A	T	8: 69,743,493 (GRCm38)	Y103*	probably null	Het
Zzef1	G	T	11: 72,865,966 (GRCm38)	D1126Y	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
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
R8397:Dennd4a	UTSW	9	64,889,109 (GRCm38)	missense	probably benign
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'- CCAGAGCTTGCCCTTACAGAGAGA -3'
(R):5'- GCATGAGGTCCAGAGATGGAATAACGAT -3'

Sequencing Primer
(F):5'- tgcttagaccctccatttcc -3'
(R):5'- TGGAATAACGATACAGAAAAGTCAG -3'

Posted On

2013-05-09