Mutagenetix > Incidental Mutation

Incidental Mutation 'R1225:Dennd4a'

152870

Institutional Source

Beutler Lab

Gene Symbol

Dennd4a

Ensembl Gene

ENSMUSG00000053641

Gene Name

DENN domain containing 4A

Synonyms

F730015K02Rik

MMRRC Submission

039294-MU

Accession Numbers

Essential gene?

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

Stock #

R1225 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64718622-64826949 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64818957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 1704 (H1704R)

Ref Sequence

ENSEMBL: ENSMUSP00000037915 (fasta)

Gene Model

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

AlphaFold

E9Q8V6

Predicted Effect

probably benign
Transcript: ENSMUST00000038890
AA Change: H1704R

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: H1704R

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: ENSMUST00000213744

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217307

Meta Mutation Damage Score

0.0862

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

100% (43/43)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730013G03Rik	T	A	1: 192,515,953 (GRCm39)		noncoding transcript	Het
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Ahnak	T	A	19: 8,980,247 (GRCm39)	D510E	probably damaging	Het
Angptl4	C	T	17: 34,000,165 (GRCm39)	A68T	possibly damaging	Het
Arid1a	A	G	4: 133,414,676 (GRCm39)	V1185A	unknown	Het
Atp2c2	C	A	8: 120,461,984 (GRCm39)	Q286K	probably damaging	Het
Blzf1	T	C	1: 164,127,165 (GRCm39)	E209G	probably damaging	Het
Bmp6	A	G	13: 38,530,257 (GRCm39)	T117A	probably benign	Het
Cmip	T	C	8: 118,172,110 (GRCm39)	F394L	probably damaging	Het
Col6a3	T	A	1: 90,739,238 (GRCm39)	D330V	probably damaging	Het
Crebbp	A	T	16: 3,944,820 (GRCm39)	S491R	probably benign	Het
Dedd	G	A	1: 171,167,863 (GRCm39)		probably null	Het
Dicer1	C	T	12: 104,657,866 (GRCm39)	V1903I	probably damaging	Het
Dnah9	A	G	11: 65,761,886 (GRCm39)	V3868A	possibly damaging	Het
Eif5b	A	G	1: 38,076,709 (GRCm39)	I674V	probably damaging	Het
F13a1	T	C	13: 37,209,825 (GRCm39)	N47D	probably benign	Het
Fancd2	T	C	6: 113,512,822 (GRCm39)	S53P	probably damaging	Het
Fsip1	C	A	2: 118,078,831 (GRCm39)	L170F	probably damaging	Het
Git2	A	T	5: 114,871,239 (GRCm39)		probably benign	Het
Gm9742	T	C	13: 8,079,875 (GRCm39)		noncoding transcript	Het
Heatr4	C	T	12: 84,024,820 (GRCm39)	E334K	probably benign	Het
Hoga1	T	G	19: 42,058,628 (GRCm39)	V110G	probably damaging	Het
Ighv6-4	T	A	12: 114,370,170 (GRCm39)	D75V	probably damaging	Het
Inhca	A	T	9: 103,132,038 (GRCm39)		probably benign	Het
Med15	G	T	16: 17,540,652 (GRCm39)	S31R	probably damaging	Het
Nbeal2	T	C	9: 110,461,954 (GRCm39)	E1467G	probably damaging	Het
Or2ag1	A	T	7: 106,313,731 (GRCm39)	D52E	probably benign	Het
Or2t6	T	A	14: 14,175,600 (GRCm38)	I161F	possibly damaging	Het
Or5ac19	T	C	16: 59,089,587 (GRCm39)	T148A	probably benign	Het
Papss1	T	C	3: 131,285,062 (GRCm39)		probably benign	Het
Pde4d	A	T	13: 110,086,755 (GRCm39)	M610L	probably benign	Het
Prickle4	T	G	17: 47,999,614 (GRCm39)		probably null	Het
Sema3g	A	G	14: 30,942,636 (GRCm39)	Y79C	probably damaging	Het
Setbp1	T	A	18: 78,901,423 (GRCm39)	D748V	probably damaging	Het
Slc46a2	A	T	4: 59,914,125 (GRCm39)	V266E	probably benign	Het
Slc9a8	T	C	2: 167,313,443 (GRCm39)	I435T	probably benign	Het
Snx29	T	C	16: 11,238,550 (GRCm39)		probably benign	Het
Son	C	T	16: 91,454,228 (GRCm39)	R992C	probably damaging	Het
Stxbp5	T	C	10: 9,688,135 (GRCm39)	N389D	possibly damaging	Het
Vmn1r28	C	T	6: 58,242,951 (GRCm39)	Q265*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCTTAGAGAGCCTTAGCCTCTCG -3'
(R):5'- GAGTGCGGTTCTGACCTGTAAGAC -3'

Sequencing Primer
(F):5'- agtggtggatgtgggagag -3'
(R):5'- GTTCTGACCTGTAAGACAAAAAGC -3'

Posted On

2014-01-29