Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01979:Dennd4a'

181807

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dennd4a

Ensembl Gene

ENSMUSG00000053641

Gene Name

DENN/MADD domain containing 4A

Synonyms

F730015K02Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01979

Quality Score

Status

Chromosome

Chromosomal Location

64811340-64919667 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 64894409 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 945 (E945K)

Ref Sequence

ENSEMBL: ENSMUSP00000037915 (fasta)

Gene Model

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

AlphaFold

E9Q8V6

Predicted Effect

probably benign
Transcript: ENSMUST00000038890
AA Change: E945K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: E945K

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

Coding Region Coverage

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh4	C	T	3: 138,429,027 (GRCm38)		probably benign	Het
Ap3b1	T	A	13: 94,448,463 (GRCm38)	L394*	probably null	Het
Cdk2ap1	C	T	5: 124,348,709 (GRCm38)	V57M	probably damaging	Het
Csnk2b	T	A	17: 35,118,016 (GRCm38)	N65I	possibly damaging	Het
Eif2b2	A	G	12: 85,219,834 (GRCm38)	D59G	probably benign	Het
Ero1a	A	T	14: 45,287,744 (GRCm38)	N441K	probably damaging	Het
Fam91a1	A	G	15: 58,432,584 (GRCm38)	D383G	probably damaging	Het
Fbxl7	C	A	15: 26,789,563 (GRCm38)	S26I	probably damaging	Het
Il20	A	T	1: 130,911,102 (GRCm38)	I42K	probably damaging	Het
Nav3	A	G	10: 109,704,929 (GRCm38)	F1947L	probably benign	Het
Ncapd3	T	A	9: 27,071,965 (GRCm38)		probably null	Het
Numb	G	T	12: 83,842,277 (GRCm38)	H23N	probably damaging	Het
Or10q3	G	A	19: 11,871,223 (GRCm38)		probably benign	Het
Or5p79	A	G	7: 108,622,441 (GRCm38)	I210V	probably benign	Het
Ppp1r1b	C	T	11: 98,356,840 (GRCm38)	T111I	probably damaging	Het
Rad50	G	A	11: 53,686,178 (GRCm38)	Q528*	probably null	Het
Scara3	A	T	14: 65,930,963 (GRCm38)	S402T	probably benign	Het
Septin3	A	G	15: 82,284,392 (GRCm38)	Y132C	probably damaging	Het
Sim2	C	A	16: 94,123,482 (GRCm38)	N495K	possibly damaging	Het
Slc9b1	A	G	3: 135,371,982 (GRCm38)		probably null	Het
Tanc2	A	G	11: 105,776,920 (GRCm38)	D109G	probably benign	Het
Tex55	A	C	16: 38,827,893 (GRCm38)	S285A	possibly damaging	Het
Traf1	T	C	2: 34,943,893 (GRCm38)	I404V	probably benign	Het
Vmn2r68	C	A	7: 85,222,117 (GRCm38)	V653L	probably benign	Het
Wdr93	A	T	7: 79,776,652 (GRCm38)	Q555L	probably benign	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
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
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

Posted On

2014-05-07