Mutagenetix > Incidental Mutation

Incidental Mutation 'R3176:Dennd4a'

476000

Institutional Source

Beutler Lab

Gene Symbol

Dennd4a

Ensembl Gene

ENSMUSG00000053641

Gene Name

DENN/MADD domain containing 4A

Synonyms

F730015K02Rik

MMRRC Submission

040614-MU

Accession Numbers

Essential gene?

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

Stock #

R3176 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64811340-64919667 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 64888993 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 767 (R767L)

Ref Sequence

ENSEMBL: ENSMUSP00000037915 (fasta)

Gene Model

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

AlphaFold

E9Q8V6

Predicted Effect

probably damaging
Transcript: ENSMUST00000038890
AA Change: R767L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: R767L

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

Meta Mutation Damage Score

0.2321

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (28/28)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	T	8: 86,506,866 (GRCm38)	R1269H	probably damaging	Het
Ace	A	G	11: 105,976,702 (GRCm38)	E164G	probably null	Het
Als2	A	T	1: 59,170,008 (GRCm38)	V1464E	possibly damaging	Het
Atox1	A	G	11: 55,450,553 (GRCm38)	L52P	possibly damaging	Het
Btnl10	A	G	11: 58,922,390 (GRCm38)	K282E	probably benign	Het
Cdkn3	T	C	14: 46,771,477 (GRCm38)		probably benign	Het
Ces2a	A	G	8: 104,739,378 (GRCm38)		probably benign	Het
Col16a1	A	G	4: 130,057,999 (GRCm38)	K72E	probably damaging	Het
Col6a5	G	A	9: 105,911,107 (GRCm38)	R1565*	probably null	Het
Col6a6	T	C	9: 105,786,230 (GRCm38)	H36R	probably benign	Het
Cyp4b1	T	C	4: 115,625,850 (GRCm38)	N415D	possibly damaging	Het
Dcp1a	A	G	14: 30,505,542 (GRCm38)		probably benign	Het
Dhcr24	T	C	4: 106,561,239 (GRCm38)	F25L	probably benign	Het
Dhrs3	A	G	4: 144,923,940 (GRCm38)	T219A	probably benign	Het
Dhx58	A	G	11: 100,696,979 (GRCm38)	F584S	probably damaging	Het
Dmbt1	A	G	7: 131,088,071 (GRCm38)	T715A	probably benign	Het
Dtx3l	A	G	16: 35,932,173 (GRCm38)	S688P	probably benign	Het
Eogt	T	A	6: 97,131,394 (GRCm38)	I229F	probably benign	Het
Ern2	T	C	7: 122,180,964 (GRCm38)	T164A	possibly damaging	Het
Fam133b	A	T	5: 3,558,522 (GRCm38)	N84I	probably damaging	Het
Fbxl21	T	A	13: 56,537,122 (GRCm38)	Y346*	probably null	Het
Fcgbp	C	A	7: 28,091,661 (GRCm38)	H782Q	probably damaging	Het
Gm11492	T	C	11: 87,567,244 (GRCm38)	V148A	possibly damaging	Het
Gm5592	A	G	7: 41,288,380 (GRCm38)	E362G	probably benign	Het
Gpatch2l	A	G	12: 86,244,315 (GRCm38)	T91A	possibly damaging	Het
Hao2	T	C	3: 98,880,328 (GRCm38)		probably benign	Het
Hsp90aa1	C	A	12: 110,695,681 (GRCm38)		probably null	Het
Hsp90aa1	T	A	12: 110,695,680 (GRCm38)	M1L	possibly damaging	Het
Itgad	C	A	7: 128,190,981 (GRCm38)	H651N	possibly damaging	Het
Itgav	A	G	2: 83,776,542 (GRCm38)	D409G	probably damaging	Het
Kcnt2	A	G	1: 140,609,639 (GRCm38)	N1119S	probably benign	Het
Kif15	T	C	9: 122,987,840 (GRCm38)		probably benign	Het
Klhl32	T	C	4: 24,682,063 (GRCm38)	I207V	probably benign	Het
Klk14	G	A	7: 43,692,077 (GRCm38)	C51Y	probably damaging	Het
Lhfpl5	T	C	17: 28,579,946 (GRCm38)	I143T	possibly damaging	Het
Lrrk1	T	C	7: 66,305,521 (GRCm38)	K431E	possibly damaging	Het
Mag	C	T	7: 30,901,648 (GRCm38)		probably null	Het
Maml3	A	T	3: 51,856,930 (GRCm38)	N204K	possibly damaging	Het
Mmut	A	G	17: 40,958,872 (GRCm38)		probably null	Het
Mrpl19	T	C	6: 81,964,066 (GRCm38)	S115G	probably damaging	Het
Mthfd1l	G	C	10: 4,148,025 (GRCm38)	G954A	probably damaging	Het
Myo19	A	G	11: 84,892,175 (GRCm38)	I172V	probably benign	Het
Naca	T	C	10: 128,040,661 (GRCm38)		probably benign	Het
Nbeal2	G	A	9: 110,636,887 (GRCm38)		probably benign	Het
Nfatc2	T	C	2: 168,506,994 (GRCm38)	N638D	possibly damaging	Het
Or52r1c	C	A	7: 103,085,750 (GRCm38)	D72E	probably damaging	Het
Or8b49	T	A	9: 38,594,643 (GRCm38)	C141S	probably damaging	Het
Or9s27	A	G	1: 92,588,813 (GRCm38)	N161S	probably benign	Het
Padi6	A	G	4: 140,735,389 (GRCm38)	L307P	probably damaging	Het
Pafah1b1	G	A	11: 74,690,232 (GRCm38)	S57F	probably damaging	Het
Prcd	A	G	11: 116,659,811 (GRCm38)	E103G	possibly damaging	Het
Prkx	A	T	X: 77,771,275 (GRCm38)	F260I	probably damaging	Het
Rad54l2	A	G	9: 106,753,943 (GRCm38)		probably null	Het
Rb1cc1	T	A	1: 6,249,366 (GRCm38)	M1003K	probably benign	Het
Scap	A	T	9: 110,374,025 (GRCm38)	M256L	probably benign	Het
Sema4c	C	T	1: 36,549,879 (GRCm38)	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601 (GRCm38)	R171W	probably damaging	Het
Sp110	A	C	1: 85,577,329 (GRCm38)	F434C	probably benign	Het
Spata7	A	G	12: 98,637,598 (GRCm38)	N75D	possibly damaging	Het
Tmem120b	T	A	5: 123,114,104 (GRCm38)	I146N	probably damaging	Het
Ttc23l	A	G	15: 10,547,232 (GRCm38)	F99L	possibly damaging	Het
Ube3a	T	A	7: 59,276,519 (GRCm38)	C348*	probably null	Het
Ubr4	T	A	4: 139,421,855 (GRCm38)	D1777E	probably benign	Het
Unc79	C	A	12: 103,113,217 (GRCm38)	D1880E	probably damaging	Het
Usp36	C	T	11: 118,276,759 (GRCm38)		probably null	Het
Zswim9	T	C	7: 13,277,270 (GRCm38)	T51A	possibly 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
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

Posted On

2017-05-11