Mutagenetix > Incidental Mutation

Incidental Mutation 'R4671:Dennd4a'

348447

Institutional Source

Beutler Lab

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 #

R4671 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64811340-64919667 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64894407 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 944 (N944I)

Ref Sequence

ENSEMBL: ENSMUSP00000037915 (fasta)

Gene Model

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

AlphaFold

E9Q8V6

Predicted Effect

probably benign
Transcript: ENSMUST00000038890
AA Change: N944I

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

SMART Domains

Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: N944I

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	A	G	1: 105,718,859 (GRCm38)	I637V	probably benign	Het
Abcc2	T	C	19: 43,800,718 (GRCm38)	S271P	probably benign	Het
Acod1	T	G	14: 103,047,072 (GRCm38)	M2R	probably benign	Het
Adamts20	T	C	15: 94,403,325 (GRCm38)	E106G	possibly damaging	Het
Adgra3	G	A	5: 49,979,368 (GRCm38)	T661M	probably damaging	Het
Akap13	T	A	7: 75,579,564 (GRCm38)	C161*	probably null	Het
Akr1c12	A	C	13: 4,273,817 (GRCm38)	S162A	possibly damaging	Het
Anks1	C	A	17: 28,051,578 (GRCm38)	H805N	probably benign	Het
Arhgap22	T	C	14: 33,362,543 (GRCm38)	C260R	probably damaging	Het
Banf1	T	C	19: 5,365,844 (GRCm38)	R33G	probably benign	Het
Bcas1	T	C	2: 170,384,325 (GRCm38)	K310R	probably damaging	Het
Cacna1c	G	T	6: 118,652,058 (GRCm38)	H1240N	probably damaging	Het
Cartpt	C	T	13: 99,900,080 (GRCm38)		probably null	Het
Ccdc127	T	A	13: 74,357,045 (GRCm38)	Y237*	probably null	Het
Ccnb1ip1	A	T	14: 50,792,277 (GRCm38)	Y109*	probably null	Het
Cenpj	A	T	14: 56,553,383 (GRCm38)	V403E	possibly damaging	Het
Cps1	A	G	1: 67,196,560 (GRCm38)	Y951C	probably damaging	Het
Dcakd	T	C	11: 102,999,808 (GRCm38)	E51G	possibly damaging	Het
Dus3l	C	T	17: 56,768,566 (GRCm38)	R430C	probably benign	Het
Dync2h1	A	G	9: 7,169,640 (GRCm38)	L279P	possibly damaging	Het
Dzip3	G	A	16: 48,979,590 (GRCm38)	Q112*	probably null	Het
Eif1ad	T	A	19: 5,368,191 (GRCm38)	M1K	probably null	Het
Fabp3	C	T	4: 130,312,387 (GRCm38)	T57I	probably benign	Het
Fam46c	C	A	3: 100,473,199 (GRCm38)	L80F	probably benign	Het
Fancg	T	C	4: 43,005,272 (GRCm38)	E366G	probably benign	Het
Gin1	C	T	1: 97,784,840 (GRCm38)	P154S	probably damaging	Het
Gm11938	A	T	11: 99,603,006 (GRCm38)	C88S	possibly damaging	Het
Gm38394	A	G	1: 133,657,040 (GRCm38)	V853A	probably benign	Het
Gpr183	T	C	14: 121,954,737 (GRCm38)	D124G	probably damaging	Het
Gucy2g	T	A	19: 55,238,068 (GRCm38)	I139F	probably damaging	Het
Iqub	A	T	6: 24,479,184 (GRCm38)	M453K	probably benign	Het
Jcad	A	G	18: 4,674,175 (GRCm38)	T646A	probably benign	Het
Kif23	A	T	9: 61,945,359 (GRCm38)	D24E	probably benign	Het
Kmt2c	T	C	5: 25,366,177 (GRCm38)	N845S	probably damaging	Het
Lhx5	G	A	5: 120,439,967 (GRCm38)	S284N	probably benign	Het
Lipf	T	G	19: 33,976,676 (GRCm38)	V389G	possibly damaging	Het
Lrrc7	C	T	3: 158,202,495 (GRCm38)		probably null	Het
Magi1	A	G	6: 93,680,787 (GRCm38)		probably null	Het
Mast2	A	G	4: 116,308,650 (GRCm38)	S1287P	probably damaging	Het
Mepce	C	T	5: 137,786,643 (GRCm38)		probably benign	Het
Mkrn1	A	G	6: 39,405,757 (GRCm38)	V173A	probably damaging	Het
Myo1c	C	T	11: 75,670,030 (GRCm38)	R770*	probably null	Het
Naip6	A	G	13: 100,294,731 (GRCm38)		probably null	Het
Nsmce3	A	T	7: 64,872,782 (GRCm38)	L46Q	probably benign	Het
Olfr1294	A	T	2: 111,537,935 (GRCm38)	M118K	probably damaging	Het
Olfr354	G	A	2: 36,907,393 (GRCm38)	C149Y	probably benign	Het
Olfr531	T	G	7: 140,400,305 (GRCm38)	Y247S	probably damaging	Het
Olfr681	T	C	7: 105,122,306 (GRCm38)	L283P	probably damaging	Het
Olfr78	A	G	7: 102,742,601 (GRCm38)	V134A	probably damaging	Het
Parp14	A	G	16: 35,858,321 (GRCm38)	F426L	probably benign	Het
Pcf11	A	T	7: 92,657,529 (GRCm38)	S1144T	possibly damaging	Het
Prpf3	T	A	3: 95,851,664 (GRCm38)	T59S	possibly damaging	Het
Ptgir	A	G	7: 16,906,869 (GRCm38)	M29V	possibly damaging	Het
Ptk7	A	G	17: 46,574,466 (GRCm38)	V678A	probably benign	Het
Rb1	A	G	14: 73,273,676 (GRCm38)	L331S	probably damaging	Het
Sell	A	G	1: 164,065,473 (GRCm38)	Y86C	probably damaging	Het
Serpina1e	G	A	12: 103,948,082 (GRCm38)	R328W	probably damaging	Het
Sertad3	T	G	7: 27,476,666 (GRCm38)	L175R	possibly damaging	Het
Stard9	G	T	2: 120,698,640 (GRCm38)	G1793W	probably damaging	Het
Stra6	T	C	9: 58,149,234 (GRCm38)	I383T	probably benign	Het
Tcf7l1	A	G	6: 72,649,178 (GRCm38)	L154P	probably damaging	Het
Tonsl	A	T	15: 76,623,410 (GRCm38)	D55E	probably benign	Het
Ttc21b	A	G	2: 66,226,913 (GRCm38)	S572P	possibly damaging	Het
Ttc7	T	A	17: 87,346,620 (GRCm38)	L575Q	probably damaging	Het
Ubl4b	C	T	3: 107,554,878 (GRCm38)	S22N	probably damaging	Het
Ubr4	T	C	4: 139,436,191 (GRCm38)	V2634A	possibly damaging	Het
Zfp46	A	C	4: 136,290,173 (GRCm38)	D106A	probably damaging	Het
Zfp951	A	C	5: 104,814,701 (GRCm38)	I333S	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
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
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'- TGAGCCTTATATATGACCAGCTCTTAG -3'
(R):5'- GTAGACACAGATACACTTCATTCTGC -3'

Sequencing Primer
(F):5'- CACACTTGATGGCCTTTAAGTGCAG -3'
(R):5'- CAGATACACTTCATTCTGCATATGC -3'

Posted On

2015-10-08