Mutagenetix > Incidental Mutation

Incidental Mutation 'R0010:Dennd4a'

8065

Institutional Source

Beutler Lab

Gene Symbol

Dennd4a

Ensembl Gene

ENSMUSG00000053641

Gene Name

DENN domain containing 4A

Synonyms

F730015K02Rik

MMRRC Submission

038305-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.489) question?

Stock #

R0010 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

64718622-64826949 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64803997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1112 (L1112P)

Ref Sequence

ENSEMBL: ENSMUSP00000037915 (fasta)

Gene Model

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

AlphaFold

E9Q8V6

Predicted Effect

probably benign
Transcript: ENSMUST00000038890
AA Change: L1112P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: L1112P

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

0.0898

Coding Region Coverage

1x: 79.6%
3x: 70.9%
10x: 47.0%
20x: 26.4%

Validation Efficiency

91% (78/86)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	C	T	5: 81,940,250 (GRCm39)	A1320V	possibly damaging	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Cd74	A	T	18: 60,942,143 (GRCm39)	H124L	probably benign	Het
Cdk5rap2	T	C	4: 70,161,696 (GRCm39)	E270G	probably benign	Het
Cldnd1	T	A	16: 58,551,622 (GRCm39)		probably benign	Het
Evc2	T	A	5: 37,574,793 (GRCm39)	L1016Q	probably damaging	Het
Fam135b	T	C	15: 71,493,881 (GRCm39)	K16R	probably damaging	Het
Frem1	T	C	4: 82,918,335 (GRCm39)	I536V	probably benign	Het
Ginm1	T	C	10: 7,651,138 (GRCm39)		probably benign	Het
Glrb	A	T	3: 80,767,622 (GRCm39)		probably benign	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Gm10320	T	C	13: 98,626,054 (GRCm39)	Y110C	probably damaging	Het
Intu	T	C	3: 40,608,702 (GRCm39)		probably benign	Het
Ltbp1	A	G	17: 75,670,386 (GRCm39)	T1476A	probably damaging	Het
Mcoln2	C	T	3: 145,889,316 (GRCm39)	T374M	probably damaging	Het
Mitf	A	G	6: 97,784,242 (GRCm39)	K33R	probably benign	Het
Nlgn1	G	T	3: 25,490,006 (GRCm39)		probably benign	Het
Nup133	A	T	8: 124,631,318 (GRCm39)	I1072N	probably damaging	Het
Rock1	T	A	18: 10,084,380 (GRCm39)	D951V	probably damaging	Het
Scgb2b26	T	A	7: 33,643,774 (GRCm39)	E55D	probably damaging	Het
Scn8a	T	C	15: 100,911,454 (GRCm39)	V958A	probably damaging	Het
Sgk1	G	A	10: 21,873,337 (GRCm39)		probably null	Het
Shprh	C	T	10: 11,027,675 (GRCm39)	T94I	probably benign	Het
Smg1	A	T	7: 117,771,082 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,045,509 (GRCm39)	V1556I	probably benign	Het
Trappc14	T	C	5: 138,258,555 (GRCm39)		probably null	Het
Trappc4	G	A	9: 44,316,528 (GRCm39)		probably benign	Het
Txlna	T	G	4: 129,522,879 (GRCm39)	D487A	probably benign	Het
Ube2d2b	T	C	5: 107,978,502 (GRCm39)	F51S	possibly damaging	Het
Wdfy3	T	C	5: 101,996,215 (GRCm39)	T3234A	probably damaging	Het
Zbtb41	T	G	1: 139,351,268 (GRCm39)	V127G	probably damaging	Het
Zfp608	A	T	18: 55,028,286 (GRCm39)		probably benign	Het

Other mutations in Dennd4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Dennd4a	APN	9	64,819,044 (GRCm39)	missense	probably damaging	1.00
IGL01610:Dennd4a	APN	9	64,814,166 (GRCm39)	missense	probably damaging	0.99
IGL01788:Dennd4a	APN	9	64,749,903 (GRCm39)	missense	probably benign	0.00
IGL01827:Dennd4a	APN	9	64,749,843 (GRCm39)	nonsense	probably null
IGL01828:Dennd4a	APN	9	64,749,843 (GRCm39)	nonsense	probably null
IGL01829:Dennd4a	APN	9	64,749,843 (GRCm39)	nonsense	probably null
IGL01979:Dennd4a	APN	9	64,801,691 (GRCm39)	missense	probably benign	0.00
IGL02100:Dennd4a	APN	9	64,816,988 (GRCm39)	splice site	probably benign
IGL02339:Dennd4a	APN	9	64,749,843 (GRCm39)	nonsense	probably null
IGL02341:Dennd4a	APN	9	64,749,843 (GRCm39)	nonsense	probably null
IGL02584:Dennd4a	APN	9	64,758,580 (GRCm39)	missense	probably damaging	1.00
IGL02607:Dennd4a	APN	9	64,769,609 (GRCm39)	missense	probably damaging	0.99
IGL02654:Dennd4a	APN	9	64,817,473 (GRCm39)	splice site	probably benign
IGL02701:Dennd4a	APN	9	64,804,635 (GRCm39)	missense	possibly damaging	0.50
IGL03051:Dennd4a	APN	9	64,769,696 (GRCm39)	missense	probably damaging	1.00
IGL03257:Dennd4a	APN	9	64,779,156 (GRCm39)	missense	possibly damaging	0.93
IGL03346:Dennd4a	APN	9	64,795,808 (GRCm39)	missense	possibly damaging	0.47
IGL03349:Dennd4a	APN	9	64,796,256 (GRCm39)	missense	probably damaging	1.00
IGL03398:Dennd4a	APN	9	64,779,164 (GRCm39)	missense	probably benign	0.32
R0010:Dennd4a	UTSW	9	64,803,997 (GRCm39)	missense	probably benign	0.00
R0129:Dennd4a	UTSW	9	64,800,576 (GRCm39)	missense	probably damaging	1.00
R0220:Dennd4a	UTSW	9	64,759,727 (GRCm39)	missense	probably damaging	1.00
R0396:Dennd4a	UTSW	9	64,769,673 (GRCm39)	missense	probably damaging	1.00
R0881:Dennd4a	UTSW	9	64,758,665 (GRCm39)	critical splice donor site	probably null
R1225:Dennd4a	UTSW	9	64,818,957 (GRCm39)	missense	probably benign	0.03
R1311:Dennd4a	UTSW	9	64,817,286 (GRCm39)	missense	probably benign	0.34
R1448:Dennd4a	UTSW	9	64,813,327 (GRCm39)	missense	possibly damaging	0.95
R1450:Dennd4a	UTSW	9	64,818,947 (GRCm39)	missense	probably benign	0.03
R1630:Dennd4a	UTSW	9	64,779,164 (GRCm39)	missense	probably benign	0.32
R1709:Dennd4a	UTSW	9	64,796,887 (GRCm39)	missense	possibly damaging	0.92
R1824:Dennd4a	UTSW	9	64,766,640 (GRCm39)	critical splice donor site	probably null
R1851:Dennd4a	UTSW	9	64,769,312 (GRCm39)	missense	probably damaging	1.00
R1870:Dennd4a	UTSW	9	64,804,516 (GRCm39)	missense	probably benign	0.00
R1900:Dennd4a	UTSW	9	64,804,618 (GRCm39)	missense	probably damaging	0.99
R1911:Dennd4a	UTSW	9	64,796,368 (GRCm39)	missense	probably damaging	1.00
R1938:Dennd4a	UTSW	9	64,749,772 (GRCm39)	missense	probably damaging	1.00
R1954:Dennd4a	UTSW	9	64,759,749 (GRCm39)	missense	probably benign	0.02
R1955:Dennd4a	UTSW	9	64,759,749 (GRCm39)	missense	probably benign	0.02
R2049:Dennd4a	UTSW	9	64,796,887 (GRCm39)	missense	possibly damaging	0.92
R2129:Dennd4a	UTSW	9	64,813,256 (GRCm39)	splice site	probably null
R2138:Dennd4a	UTSW	9	64,796,619 (GRCm39)	missense	probably damaging	1.00
R2929:Dennd4a	UTSW	9	64,759,699 (GRCm39)	missense	possibly damaging	0.85
R3083:Dennd4a	UTSW	9	64,813,363 (GRCm39)	missense	probably benign	0.03
R3108:Dennd4a	UTSW	9	64,819,669 (GRCm39)	missense	probably benign	0.23
R3176:Dennd4a	UTSW	9	64,796,275 (GRCm39)	missense	probably damaging	1.00
R3177:Dennd4a	UTSW	9	64,796,275 (GRCm39)	missense	probably damaging	1.00
R3276:Dennd4a	UTSW	9	64,796,275 (GRCm39)	missense	probably damaging	1.00
R3277:Dennd4a	UTSW	9	64,796,275 (GRCm39)	missense	probably damaging	1.00
R3890:Dennd4a	UTSW	9	64,779,310 (GRCm39)	missense	probably damaging	1.00
R3953:Dennd4a	UTSW	9	64,759,857 (GRCm39)	missense	probably damaging	1.00
R3963:Dennd4a	UTSW	9	64,769,613 (GRCm39)	missense	probably damaging	1.00
R4059:Dennd4a	UTSW	9	64,819,174 (GRCm39)	missense	possibly damaging	0.92
R4499:Dennd4a	UTSW	9	64,817,405 (GRCm39)	missense	possibly damaging	0.78
R4500:Dennd4a	UTSW	9	64,817,405 (GRCm39)	missense	possibly damaging	0.78
R4501:Dennd4a	UTSW	9	64,817,405 (GRCm39)	missense	possibly damaging	0.78
R4671:Dennd4a	UTSW	9	64,801,689 (GRCm39)	missense	probably benign
R4701:Dennd4a	UTSW	9	64,804,639 (GRCm39)	missense	possibly damaging	0.91
R4821:Dennd4a	UTSW	9	64,804,531 (GRCm39)	missense	possibly damaging	0.92
R4829:Dennd4a	UTSW	9	64,796,338 (GRCm39)	missense	probably damaging	1.00
R4876:Dennd4a	UTSW	9	64,803,872 (GRCm39)	missense	probably benign
R4881:Dennd4a	UTSW	9	64,746,126 (GRCm39)	missense	possibly damaging	0.77
R4962:Dennd4a	UTSW	9	64,813,285 (GRCm39)	missense	probably benign	0.00
R5225:Dennd4a	UTSW	9	64,796,210 (GRCm39)	missense	possibly damaging	0.94
R5557:Dennd4a	UTSW	9	64,811,509 (GRCm39)	missense	probably benign	0.07
R5649:Dennd4a	UTSW	9	64,758,491 (GRCm39)	splice site	probably null
R5868:Dennd4a	UTSW	9	64,804,011 (GRCm39)	missense	probably benign	0.02
R5876:Dennd4a	UTSW	9	64,819,037 (GRCm39)	missense	probably damaging	1.00
R6052:Dennd4a	UTSW	9	64,794,227 (GRCm39)	missense	probably damaging	1.00
R6411:Dennd4a	UTSW	9	64,779,181 (GRCm39)	missense	probably benign	0.04
R6596:Dennd4a	UTSW	9	64,759,702 (GRCm39)	missense	probably damaging	1.00
R6668:Dennd4a	UTSW	9	64,794,247 (GRCm39)	missense	probably damaging	1.00
R6915:Dennd4a	UTSW	9	64,759,771 (GRCm39)	nonsense	probably null
R7056:Dennd4a	UTSW	9	64,814,205 (GRCm39)	missense	possibly damaging	0.89
R7107:Dennd4a	UTSW	9	64,801,681 (GRCm39)	missense	possibly damaging	0.79
R7203:Dennd4a	UTSW	9	64,803,756 (GRCm39)	missense	probably benign	0.05
R7238:Dennd4a	UTSW	9	64,769,238 (GRCm39)	missense	probably damaging	1.00
R7373:Dennd4a	UTSW	9	64,804,551 (GRCm39)	missense	probably benign	0.01
R7454:Dennd4a	UTSW	9	64,759,852 (GRCm39)	missense	probably damaging	1.00
R7546:Dennd4a	UTSW	9	64,780,326 (GRCm39)	missense	probably damaging	1.00
R7590:Dennd4a	UTSW	9	64,795,869 (GRCm39)	missense	probably benign	0.01
R7662:Dennd4a	UTSW	9	64,759,713 (GRCm39)	missense	probably damaging	1.00
R7782:Dennd4a	UTSW	9	64,814,202 (GRCm39)	missense	probably damaging	0.98
R7909:Dennd4a	UTSW	9	64,780,275 (GRCm39)	critical splice acceptor site	probably null
R7976:Dennd4a	UTSW	9	64,759,794 (GRCm39)	missense	possibly damaging	0.95
R8026:Dennd4a	UTSW	9	64,780,312 (GRCm39)	missense	probably damaging	1.00
R8034:Dennd4a	UTSW	9	64,795,850 (GRCm39)	missense	probably benign	0.01
R8089:Dennd4a	UTSW	9	64,756,457 (GRCm39)	missense	probably damaging	1.00
R8298:Dennd4a	UTSW	9	64,814,157 (GRCm39)	missense	probably benign	0.00
R8397:Dennd4a	UTSW	9	64,796,391 (GRCm39)	missense	probably benign
R8425:Dennd4a	UTSW	9	64,746,256 (GRCm39)	missense	probably damaging	1.00
R8495:Dennd4a	UTSW	9	64,794,161 (GRCm39)	missense	probably damaging	1.00
R8855:Dennd4a	UTSW	9	64,819,672 (GRCm39)	missense	probably benign
R9219:Dennd4a	UTSW	9	64,796,376 (GRCm39)	missense	probably damaging	0.96
R9275:Dennd4a	UTSW	9	64,749,906 (GRCm39)	missense	probably damaging	1.00
R9376:Dennd4a	UTSW	9	64,819,974 (GRCm39)	missense	probably benign	0.00
R9485:Dennd4a	UTSW	9	64,814,388 (GRCm39)	nonsense	probably null
R9672:Dennd4a	UTSW	9	64,800,640 (GRCm39)	missense	probably benign
R9746:Dennd4a	UTSW	9	64,801,793 (GRCm39)	missense	probably benign
X0026:Dennd4a	UTSW	9	64,804,602 (GRCm39)	missense	possibly damaging	0.67
Z1088:Dennd4a	UTSW	9	64,779,304 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-11-20