Mutagenetix > Incidental Mutation

Incidental Mutation 'R8026:Dennd4a'

617717

Institutional Source

Beutler Lab

Gene Symbol

Dennd4a

Ensembl Gene

ENSMUSG00000053641

Gene Name

DENN/MADD domain containing 4A

Synonyms

F730015K02Rik

MMRRC Submission

067465-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.465) question?

Stock #

R8026 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64811340-64919667 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64873030 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 616 (F616S)

Ref Sequence

ENSEMBL: ENSMUSP00000037915 (fasta)

Gene Model

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

AlphaFold

E9Q8V6

Predicted Effect

probably damaging
Transcript: ENSMUST00000038890
AA Change: F616S

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

SMART Domains

Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: F616S

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

Meta Mutation Damage Score

0.9128

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (66/67)

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
Abcb8	T	C	5: 24,406,725 (GRCm38)	V513A	probably damaging	Het
Acsf2	C	T	11: 94,562,888 (GRCm38)	V416M	probably damaging	Het
Adrm1	G	A	2: 180,175,209 (GRCm38)	A225T	unknown	Het
Aldh9a1	T	C	1: 167,352,667 (GRCm38)		probably null	Het
Apbb2	T	C	5: 66,451,644 (GRCm38)	D220G	probably benign	Het
Bace2	T	C	16: 97,436,852 (GRCm38)	V501A	probably benign	Het
Camsap1	T	C	2: 25,938,202 (GRCm38)	N1170S	probably benign	Het
Casr	A	G	16: 36,495,617 (GRCm38)	V697A	probably damaging	Het
Clcn1	T	C	6: 42,307,661 (GRCm38)		probably null	Het
Cobl	T	C	11: 12,253,459 (GRCm38)	K1081R	probably benign	Het
Ctr9	T	A	7: 111,033,892 (GRCm38)	L116I	probably damaging	Het
Dynlt1a	C	T	17: 6,311,814 (GRCm38)	G30S	possibly damaging	Het
Eif1	T	C	11: 100,320,448 (GRCm38)	S23P	possibly damaging	Het
Eml6	A	C	11: 29,749,973 (GRCm38)	L1721R	possibly damaging	Het
Fscb	A	G	12: 64,474,275 (GRCm38)	I139T	probably benign	Het
Fstl4	A	G	11: 53,068,669 (GRCm38)	E179G	probably damaging	Het
Fuom	T	C	7: 140,100,154 (GRCm38)	T95A		Het
Gigyf1	C	T	5: 137,525,478 (GRCm38)	H1001Y	probably damaging	Het
Gm21886	T	A	18: 80,089,746 (GRCm38)	S66C	probably damaging	Het
Helz2	G	A	2: 181,240,205 (GRCm38)	T265I	probably benign	Het
Hs6st3	G	T	14: 119,869,556 (GRCm38)	V459F	probably damaging	Het
Ido2	A	G	8: 24,535,140 (GRCm38)		probably null	Het
Idua	A	G	5: 108,670,249 (GRCm38)	I96V	probably benign	Het
Iftap	A	T	2: 101,570,644 (GRCm38)		probably benign	Het
Inpp5j	A	G	11: 3,495,171 (GRCm38)	S494P		Het
Krt19	A	G	11: 100,141,383 (GRCm38)	V285A	probably damaging	Het
Krt71	T	G	15: 101,738,382 (GRCm38)	D297A	possibly damaging	Het
L3hypdh	G	A	12: 72,084,949 (GRCm38)	R70C	probably damaging	Het
Masp1	T	C	16: 23,484,406 (GRCm38)	Y324C	probably damaging	Het
Mfap2	A	G	4: 141,013,803 (GRCm38)	D25G	possibly damaging	Het
Mmp17	G	A	5: 129,595,084 (GRCm38)		probably null	Het
Mroh7	G	A	4: 106,721,437 (GRCm38)	P15S	probably benign	Het
Muc5b	T	A	7: 141,863,636 (GRCm38)	C3440S	probably benign	Het
Naip5	C	A	13: 100,245,898 (GRCm38)	S101I	probably damaging	Het
Neb	A	T	2: 52,223,048 (GRCm38)	Y1066N		Het
Nop56	T	A	2: 130,277,268 (GRCm38)	C38S	probably benign	Het
Nup214	T	A	2: 32,033,350 (GRCm38)	L1297Q	possibly damaging	Het
Oasl2	C	A	5: 114,902,268 (GRCm38)		probably benign	Het
Or4a70	A	G	2: 89,493,788 (GRCm38)	F175L	probably damaging	Het
Or4c58	T	C	2: 89,844,929 (GRCm38)	N15D	probably benign	Het
Or51b4	A	G	7: 103,881,697 (GRCm38)	V182A	possibly damaging	Het
Or52a5	T	A	7: 103,778,340 (GRCm38)	I2F	probably benign	Het
Or5h24	T	C	16: 59,098,368 (GRCm38)	H208R	unknown	Het
Or8g4	T	C	9: 39,750,796 (GRCm38)	S137P	possibly damaging	Het
Pacrg	C	T	17: 10,576,567 (GRCm38)	V155I	probably benign	Het
Patz1	A	T	11: 3,307,658 (GRCm38)	M96L	probably benign	Het
Pcca	A	G	14: 122,638,382 (GRCm38)	D141G	probably benign	Het
Ptprr	A	G	10: 116,048,170 (GRCm38)	Y44C	probably damaging	Het
Rad51ap1	A	G	6: 126,934,712 (GRCm38)		probably null	Het
Raet1e	A	C	10: 22,181,299 (GRCm38)	D174A	probably damaging	Het
Rhobtb2	T	G	14: 69,796,765 (GRCm38)	D337A	probably benign	Het
Sbf2	T	C	7: 110,335,387 (GRCm38)	K1377E	probably damaging	Het
Sh3pxd2b	A	G	11: 32,411,567 (GRCm38)	K260E	probably damaging	Het
Slc4a8	A	T	15: 100,787,289 (GRCm38)	I234F	possibly damaging	Het
Srgap3	C	T	6: 112,739,364 (GRCm38)	R625H	probably benign	Het
Tbxas1	C	T	6: 39,027,896 (GRCm38)	T359I	probably benign	Het
Trim9	T	A	12: 70,290,387 (GRCm38)	S309C	probably benign	Het
Ttn	G	A	2: 76,829,139 (GRCm38)	P12191S	unknown	Het
Unc80	A	G	1: 66,483,304 (GRCm38)	R222G	possibly damaging	Het
Vmn1r202	A	T	13: 22,502,144 (GRCm38)	H34Q	possibly damaging	Het
Vmn2r61	T	A	7: 42,266,717 (GRCm38)	N251K	probably benign	Het
Vmn2r67	A	T	7: 85,136,716 (GRCm38)	Y694N	probably damaging	Het
Vwde	A	G	6: 13,205,783 (GRCm38)	F255S	probably benign	Het
Zfp532	T	G	18: 65,625,156 (GRCm38)	I720R	possibly damaging	Het
Zfp819	A	G	7: 43,617,895 (GRCm38)	T601A	probably benign	Het
Zfp853	G	T	5: 143,288,525 (GRCm38)	Q462K	unknown	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
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'- AGTGTGCCACCATCTCTGTG -3'
(R):5'- AGGCTGCTCAAACTCTCATTG -3'

Sequencing Primer
(F):5'- TTCCCCACTTATCAAAGAACTTAAG -3'
(R):5'- GGCTGCTCAAACTCTCATTGTAAGTG -3'

Posted On

2020-01-23