Mutagenetix > Incidental Mutation

Incidental Mutation 'R4821:Dennd4a'

370227

Institutional Source

Beutler Lab

Gene Symbol

Dennd4a

Ensembl Gene

ENSMUSG00000053641

Gene Name

DENN domain containing 4A

Synonyms

F730015K02Rik

MMRRC Submission

042437-MU

Accession Numbers

Essential gene?

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

Stock #

R4821 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64718622-64826949 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 64804531 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 1290 (C1290Y)

Ref Sequence

ENSEMBL: ENSMUSP00000037915 (fasta)

Gene Model

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

AlphaFold

E9Q8V6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038890
AA Change: C1290Y

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: C1290Y

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

0.0648

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

100% (79/79)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,092,871 (GRCm39)	K150R	probably damaging	Het
Aak1	T	C	6: 86,827,171 (GRCm39)	V46A	probably damaging	Het
Abcb9	T	C	5: 124,228,212 (GRCm39)	T10A	probably benign	Het
Acaca	A	G	11: 84,185,813 (GRCm39)	D116G	possibly damaging	Het
Adam33	G	A	2: 130,903,115 (GRCm39)	P43L	probably benign	Het
Adamtsl2	T	A	2: 26,988,604 (GRCm39)		probably null	Het
Akap13	A	G	7: 75,327,255 (GRCm39)		probably benign	Het
Art1	T	A	7: 101,756,385 (GRCm39)	L192Q	probably damaging	Het
Baalc	A	G	15: 38,796,575 (GRCm39)		probably benign	Het
Baz2a	A	G	10: 127,946,978 (GRCm39)	E164G	probably damaging	Het
Bcs1l	A	G	1: 74,631,144 (GRCm39)	I391V	probably benign	Het
Cacna1c	T	C	6: 118,673,386 (GRCm39)	T497A	probably damaging	Het
Cap2	C	A	13: 46,763,586 (GRCm39)	T164N	probably damaging	Het
Ccdc57	A	G	11: 120,751,225 (GRCm39)		probably null	Het
Ccdc88c	T	C	12: 100,904,338 (GRCm39)	N1120S	probably benign	Het
Cfap210	T	C	2: 69,612,452 (GRCm39)	E96G	possibly damaging	Het
Chd7	T	A	4: 8,844,706 (GRCm39)	V1605D	probably damaging	Het
Col12a1	A	T	9: 79,622,622 (GRCm39)		probably benign	Het
Commd3	T	C	2: 18,677,339 (GRCm39)	S22P	probably benign	Het
Cpd	T	C	11: 76,737,063 (GRCm39)	I244V	probably benign	Het
Cpeb2	C	A	5: 43,390,817 (GRCm39)		probably benign	Het
Cyp2c65	A	G	19: 39,060,635 (GRCm39)	D165G	probably damaging	Het
Ddx1	T	C	12: 13,289,148 (GRCm39)	Y152C	probably damaging	Het
Ebf4	G	A	2: 130,148,965 (GRCm39)	M232I	probably benign	Het
Farp2	A	G	1: 93,502,192 (GRCm39)		probably null	Het
Frk	T	C	10: 34,360,233 (GRCm39)	V78A	probably benign	Het
Gm5799	A	G	14: 43,782,098 (GRCm39)	D90G	probably damaging	Het
Gpr45	C	G	1: 43,069,613 (GRCm39)		probably benign	Het
Hfm1	C	T	5: 107,002,606 (GRCm39)		probably null	Het
Igkv4-57-1	T	A	6: 69,521,387 (GRCm39)	D105V	probably damaging	Het
Impdh2-ps	A	G	8: 100,757,995 (GRCm39)		noncoding transcript	Het
Kctd4	G	A	14: 76,200,217 (GRCm39)	V63I	probably benign	Het
Lcn6	T	A	2: 25,570,822 (GRCm39)	L137M	probably damaging	Het
Lonrf1	T	C	8: 36,687,126 (GRCm39)	N737D	probably benign	Het
Mcu	C	T	10: 59,303,511 (GRCm39)	V109M	probably damaging	Het
Mecom	C	A	3: 30,039,500 (GRCm39)	K186N	probably damaging	Het
Muc4	T	C	16: 32,753,802 (GRCm38)	I1226T	probably benign	Het
Mybpc1	T	C	10: 88,384,727 (GRCm39)	D533G	probably damaging	Het
Nae1	A	C	8: 105,246,416 (GRCm39)	C294G	probably damaging	Het
Ncapg2	T	G	12: 116,379,077 (GRCm39)	H190Q	probably damaging	Het
Nkx2-2	A	T	2: 147,027,763 (GRCm39)	L59Q	possibly damaging	Het
Nrxn3	C	T	12: 90,171,483 (GRCm39)	T295I	probably damaging	Het
Obscn	C	T	11: 58,897,652 (GRCm39)		probably benign	Het
Obscn	A	T	11: 58,931,293 (GRCm39)	M5781K	probably damaging	Het
Or11g24	A	G	14: 50,662,206 (GRCm39)	T77A	possibly damaging	Het
Or4k39	T	C	2: 111,239,570 (GRCm39)		noncoding transcript	Het
Or4z4	T	A	19: 12,076,110 (GRCm39)	M298L	probably benign	Het
Pcdhb6	C	A	18: 37,467,381 (GRCm39)	P101T	probably damaging	Het
Pot1b	A	G	17: 55,979,885 (GRCm39)	S324P	possibly damaging	Het
Potefam1	T	C	2: 111,034,490 (GRCm39)		probably null	Het
Ppcdc	C	T	9: 57,342,194 (GRCm39)	V43I	probably benign	Het
Prr13	A	T	15: 102,369,120 (GRCm39)		probably benign	Het
Rab10os	T	A	12: 3,287,322 (GRCm39)		noncoding transcript	Het
Rabgap1	T	C	2: 37,422,531 (GRCm39)	S595P	probably damaging	Het
Rap1gap	T	C	4: 137,439,440 (GRCm39)	S126P	probably damaging	Het
Rgs6	A	T	12: 83,114,185 (GRCm39)		probably null	Het
Slc5a6	T	A	5: 31,194,228 (GRCm39)	K610*	probably null	Het
Sun5	C	T	2: 153,711,386 (GRCm39)	V27I	probably benign	Het
Tmco5b	T	C	2: 113,120,102 (GRCm39)	I126T	probably benign	Het
Tmed7	G	A	18: 46,726,480 (GRCm39)	Q92*	probably null	Het
Trav7d-2	A	G	14: 52,921,885 (GRCm39)	D98G	probably benign	Het
Trbv16	T	A	6: 41,128,936 (GRCm39)	L40Q	probably damaging	Het
Ush2a	T	C	1: 188,485,848 (GRCm39)	V2986A	probably benign	Het
Usp33	T	C	3: 152,064,310 (GRCm39)	V58A	probably benign	Het
Vmn2r94	T	A	17: 18,477,293 (GRCm39)	M373L	probably benign	Het
Ywhaq	T	C	12: 21,467,512 (GRCm39)		probably benign	Het
Zbbx	G	A	3: 74,989,054 (GRCm39)	H345Y	possibly damaging	Het
Zfp346	G	T	13: 55,261,626 (GRCm39)		probably benign	Het
Zfp616	C	T	11: 73,975,033 (GRCm39)	A434V	probably benign	Het
Zfp992	C	T	4: 146,551,976 (GRCm39)	H566Y	probably damaging	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
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
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'- ATGAGCAGTCCTTTGACAAGC -3'
(R):5'- ACGTAGTGTACATGGTGAACC -3'

Sequencing Primer
(F):5'- CCAGCATTGATTTACAACGAGCATG -3'
(R):5'- GTACATGGTGAACCTTGAGTACC -3'

Posted On

2016-02-04