Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02341:Dennd4a'

289091

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dennd4a

Ensembl Gene

ENSMUSG00000053641

Gene Name

DENN/MADD domain containing 4A

Synonyms

F730015K02Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.432) question?

Stock #

IGL02341

Quality Score

Status

Chromosome

Chromosomal Location

64811340-64919667 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 64842561 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 145 (R145*)

Ref Sequence

ENSEMBL: ENSMUSP00000037915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038890] [ENSMUST00000213926]

AlphaFold

E9Q8V6

Predicted Effect

probably null
Transcript: ENSMUST00000038890
AA Change: R145*

SMART Domains

Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: R145*

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: ENSMUST00000213437

Predicted Effect

probably benign
Transcript: ENSMUST00000213926

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214001

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215025

Coding Region Coverage

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210407C18Rik	T	C	11: 58,612,830 (GRCm38)	S17G	possibly damaging	Het
Arid2	C	T	15: 96,372,185 (GRCm38)	S1393L	probably benign	Het
Bahcc1	T	A	11: 120,272,520 (GRCm38)	I548N	probably damaging	Het
Baiap3	A	T	17: 25,248,316 (GRCm38)	L405Q	possibly damaging	Het
Cacna1g	T	G	11: 94,462,152 (GRCm38)	Q349P	probably damaging	Het
Ccdc30	T	C	4: 119,356,781 (GRCm38)	T184A	possibly damaging	Het
Ccdc63	A	G	5: 122,113,198 (GRCm38)	I383T	probably benign	Het
Ccnk	A	G	12: 108,195,730 (GRCm38)	E298G	unknown	Het
Ccnt1	T	C	15: 98,546,783 (GRCm38)	E223G	possibly damaging	Het
Clcc1	T	A	3: 108,673,383 (GRCm38)	L333I	possibly damaging	Het
Cyp2b10	G	A	7: 25,911,242 (GRCm38)	R59Q	probably benign	Het
Cyp3a41b	T	A	5: 145,573,651 (GRCm38)	T138S	probably benign	Het
Dnah8	A	T	17: 30,747,257 (GRCm38)	I2474F	probably damaging	Het
Dok1	T	C	6: 83,033,054 (GRCm38)	T25A	probably damaging	Het
Ears2	G	A	7: 122,039,764 (GRCm38)	A479V	probably benign	Het
Erc1	T	A	6: 119,594,973 (GRCm38)	I981F	possibly damaging	Het
Fam129c	A	T	8: 71,603,799 (GRCm38)	N381I	possibly damaging	Het
Gm8730	A	G	8: 102,865,143 (GRCm38)		noncoding transcript	Het
Gm9962	C	T	7: 57,387,294 (GRCm38)		probably benign	Het
Has3	A	T	8: 106,874,005 (GRCm38)	Y33F	probably damaging	Het
Hk1	A	G	10: 62,284,380 (GRCm38)	S607P	possibly damaging	Het
Hlcs	T	A	16: 94,231,110 (GRCm38)	I612F	probably damaging	Het
Llgl2	T	A	11: 115,851,120 (GRCm38)	S663T	possibly damaging	Het
Lrriq1	T	C	10: 103,224,941 (GRCm38)	H100R	probably benign	Het
Magi2	T	A	5: 20,466,203 (GRCm38)	I678N	probably damaging	Het
Megf11	G	A	9: 64,544,620 (GRCm38)	G109S	probably damaging	Het
Morc2b	A	T	17: 33,137,307 (GRCm38)	I497K	probably damaging	Het
Mybpc2	A	C	7: 44,514,930 (GRCm38)	S404A	probably benign	Het
Mylip	A	G	13: 45,391,276 (GRCm38)	R59G	probably damaging	Het
Mylk3	A	T	8: 85,351,972 (GRCm38)	I501N	probably damaging	Het
Myo19	A	G	11: 84,888,045 (GRCm38)		probably benign	Het
Nat2	A	G	8: 67,501,718 (GRCm38)	Y160C	possibly damaging	Het
Nf1	C	T	11: 79,564,926 (GRCm38)	A2554V	probably benign	Het
Ninl	A	T	2: 150,944,605 (GRCm38)	C153*	probably null	Het
Nlrp5	C	T	7: 23,404,152 (GRCm38)	R15C	probably benign	Het
Nphp4	A	T	4: 152,555,469 (GRCm38)		probably benign	Het
Obscn	C	A	11: 59,135,825 (GRCm38)	R184L	probably benign	Het
Olfr767	A	T	10: 129,079,461 (GRCm38)	C167*	probably null	Het
Olfr771	T	A	10: 129,160,433 (GRCm38)	I184F	probably benign	Het
Olfr804	A	T	10: 129,705,489 (GRCm38)	T204S	probably damaging	Het
Phip	A	T	9: 82,932,883 (GRCm38)	V262D	probably damaging	Het
Ptprg	T	A	14: 12,154,360 (GRCm38)	S694T	probably benign	Het
Reck	T	A	4: 43,925,160 (GRCm38)	D466E	probably damaging	Het
Rimbp2	G	T	5: 128,800,961 (GRCm38)	Y213*	probably null	Het
Scn2a	C	T	2: 65,688,377 (GRCm38)	T365M	probably damaging	Het
Scpep1	T	A	11: 88,944,488 (GRCm38)	T120S	probably benign	Het
Sp7	T	A	15: 102,359,222 (GRCm38)	T50S	possibly damaging	Het
Tbc1d1	A	G	5: 64,275,407 (GRCm38)	R304G	probably damaging	Het
Tiam1	A	G	16: 89,898,369 (GRCm38)	S67P	probably damaging	Het
Tjp1	G	A	7: 65,312,634 (GRCm38)	T1185I	probably damaging	Het
Tspan2	T	A	3: 102,765,213 (GRCm38)	I178N	probably damaging	Het
Tusc2	T	A	9: 107,564,910 (GRCm38)	*103R	probably null	Het
Uggt1	A	T	1: 36,164,519 (GRCm38)	*47R	probably null	Het
Unc13c	T	A	9: 73,933,210 (GRCm38)	I120F	possibly damaging	Het
Vcpip1	T	A	1: 9,724,950 (GRCm38)	K1065N	possibly damaging	Het
Zfp532	C	A	18: 65,624,778 (GRCm38)	P594Q	probably damaging	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
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
R8026:Dennd4a	UTSW	9	64,873,030 (GRCm38)	missense	probably damaging	1.00
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

Posted On

2015-04-16