Mutagenetix > Incidental Mutation

Incidental Mutation 'R8298:Dennd4a'

639085

Institutional Source

Beutler Lab

Gene Symbol

Dennd4a

Ensembl Gene

ENSMUSG00000053641

Gene Name

DENN domain containing 4A

Synonyms

F730015K02Rik

MMRRC Submission

067786-MU

Accession Numbers

Essential gene?

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

Stock #

R8298 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64718622-64826949 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64814157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1458 (D1458G)

Ref Sequence

ENSEMBL: ENSMUSP00000037915 (fasta)

Gene Model

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

AlphaFold

E9Q8V6

Predicted Effect

probably benign
Transcript: ENSMUST00000038890
AA Change: D1458G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: D1458G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (62/64)

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
4930453N24Rik	A	G	16: 64,586,695 (GRCm39)	L343P	probably benign	Het
Aak1	T	A	6: 86,902,061 (GRCm39)	F77I	possibly damaging	Het
Abca3	T	C	17: 24,604,375 (GRCm39)	L582P	probably damaging	Het
Acat1	A	T	9: 53,505,724 (GRCm39)	S136R	probably damaging	Het
Adamts2	T	C	11: 50,667,958 (GRCm39)	F507L	possibly damaging	Het
Adcy3	G	A	12: 4,256,482 (GRCm39)	A763T	probably damaging	Het
Adgrv1	A	T	13: 81,534,033 (GRCm39)	C5849*	probably null	Het
Adrb2	A	T	18: 62,311,753 (GRCm39)	N357K	probably benign	Het
Ak9	A	G	10: 41,265,054 (GRCm39)	E404G		Het
Akap13	T	C	7: 75,397,552 (GRCm39)	L2576P	probably damaging	Het
Armcx5	AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA	AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA	X: 134,646,453 (GRCm39)		probably benign	Het
Arv1	A	G	8: 125,455,111 (GRCm39)	Y108C	probably damaging	Het
Casp8ap2	T	A	4: 32,640,429 (GRCm39)	H494Q	probably benign	Het
Ccdc88b	A	G	19: 6,827,649 (GRCm39)	L951P	probably damaging	Het
D830039M14Rik	A	T	10: 61,311,362 (GRCm39)	M160K	noncoding transcript	Het
Dbf4	A	G	5: 8,462,115 (GRCm39)		probably benign	Het
Dock10	T	C	1: 80,514,654 (GRCm39)	K1422R	probably benign	Het
Dyrk3	C	T	1: 131,057,112 (GRCm39)	D354N	probably damaging	Het
Epha3	T	A	16: 63,386,961 (GRCm39)	I892F	probably benign	Het
Evi5	G	A	5: 107,964,731 (GRCm39)	S317L	possibly damaging	Het
Evl	C	T	12: 108,619,232 (GRCm39)	P76S	probably benign	Het
Fyb2	A	C	4: 104,806,028 (GRCm39)	E369D	probably damaging	Het
Gm10000	T	C	12: 104,442,436 (GRCm39)		probably benign	Het
Gm1979	T	C	5: 26,206,148 (GRCm39)	N190S	probably damaging	Het
Gm3633	T	C	14: 42,462,675 (GRCm39)	E72G		Het
Gm5414	T	C	15: 101,532,605 (GRCm39)	Y506C	unknown	Het
Gm572	T	A	4: 148,742,550 (GRCm39)	H96Q	possibly damaging	Het
Gml	T	C	15: 74,685,541 (GRCm39)	E148G	probably damaging	Het
Got1l1	T	C	8: 27,688,586 (GRCm39)	D255G	probably benign	Het
Hydin	A	G	8: 111,327,015 (GRCm39)	N4785D	probably damaging	Het
Kcnk12	A	T	17: 88,104,713 (GRCm39)	F57Y	probably damaging	Het
Klhdc9	C	A	1: 171,186,429 (GRCm39)	G336C	probably damaging	Het
Kprp	T	C	3: 92,732,607 (GRCm39)	T148A	probably damaging	Het
Lama3	G	A	18: 12,658,910 (GRCm39)	R2022Q	probably benign	Het
Lelp1	A	T	3: 92,042,927 (GRCm39)	S41T	unknown	Het
Lnx2	A	T	5: 146,961,327 (GRCm39)	M535K	probably benign	Het
Mmp9	T	A	2: 164,792,279 (GRCm39)	F294L	probably null	Het
Myo7a	T	C	7: 97,747,541 (GRCm39)	Y97C	probably damaging	Het
Nav2	T	C	7: 49,204,009 (GRCm39)		probably null	Het
Ndufaf3	T	C	9: 108,444,120 (GRCm39)	T3A	probably benign	Het
Nrxn1	A	G	17: 91,011,597 (GRCm39)	I344T	probably damaging	Het
Or1j1	T	C	2: 36,703,038 (GRCm39)	E22G	probably benign	Het
Or5ap2	T	C	2: 85,680,533 (GRCm39)	S246P	probably damaging	Het
Or5w14	A	T	2: 87,541,376 (GRCm39)	S291R	probably damaging	Het
Pccb	T	C	9: 100,867,885 (GRCm39)	D384G	probably damaging	Het
Plekhg3	C	T	12: 76,623,852 (GRCm39)	H1032Y	probably damaging	Het
Ppfia3	A	G	7: 45,009,618 (GRCm39)	S125P	probably damaging	Het
Prl7a2	T	C	13: 27,844,994 (GRCm39)	M131V	probably benign	Het
Prmt3	A	G	7: 49,507,186 (GRCm39)	T517A	probably benign	Het
Prpf4b	A	G	13: 35,072,166 (GRCm39)	H491R	unknown	Het
Rhot1	T	A	11: 80,137,502 (GRCm39)	C335S	probably benign	Het
Robo1	C	T	16: 72,769,020 (GRCm39)		probably benign	Het
Samd3	A	T	10: 26,121,468 (GRCm39)	D195V	probably damaging	Het
Sh3gl2	T	A	4: 85,297,647 (GRCm39)	D208E	possibly damaging	Het
Spta1	A	T	1: 174,074,953 (GRCm39)	D2393V	probably damaging	Het
Tgs1	T	C	4: 3,605,840 (GRCm39)	L785P	probably damaging	Het
Tmem25	C	T	9: 44,710,116 (GRCm39)		probably benign	Het
Trappc10	A	G	10: 78,038,753 (GRCm39)	Y780H	probably damaging	Het
Ttn	C	A	2: 76,557,511 (GRCm39)	W29861L	probably damaging	Het
Usp1	T	A	4: 98,819,136 (GRCm39)	D199E	probably damaging	Het
Vmn2r40	A	G	7: 8,911,148 (GRCm39)	I715T		Het
Zfp169	G	A	13: 48,651,853 (GRCm39)	Q68*	probably null	Het
Zfp418	T	A	7: 7,185,814 (GRCm39)	Y592*	probably null	Het
Zfp712	A	G	13: 67,188,976 (GRCm39)	V517A	probably benign	Het
Zfp934	A	T	13: 62,666,295 (GRCm39)	H146Q		Het
Zgrf1	T	C	3: 127,408,878 (GRCm39)	S1662P	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
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
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'- GCTCTGTCATTTTGCACAGC -3'
(R):5'- CTGTTGATGAGCTGGACTTCAAG -3'

Sequencing Primer
(F):5'- CATGTGGCTGTATTTGCTCAGATC -3'
(R):5'- GCGGTATTTTAGGAAACAATACCC -3'

Posted On

2020-07-28