Mutagenetix > Incidental Mutation

Incidental Mutation 'R0129:Dennd4a'

21573

Institutional Source

Beutler Lab

Gene Symbol

Dennd4a

Ensembl Gene

ENSMUSG00000053641

Gene Name

DENN domain containing 4A

Synonyms

F730015K02Rik

MMRRC Submission

038414-MU

Accession Numbers

Essential gene?

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

Stock #

R0129 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

64718622-64826949 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64800576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 905 (S905P)

Ref Sequence

ENSEMBL: ENSMUSP00000037915 (fasta)

Gene Model

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

AlphaFold

E9Q8V6

Predicted Effect

probably damaging
Transcript: ENSMUST00000038890
AA Change: S905P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: S905P

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

0.2785

Coding Region Coverage

1x: 99.1%
3x: 97.7%
10x: 92.2%
20x: 74.4%

Validation Efficiency

100% (80/80)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa2	A	G	18: 74,920,265 (GRCm39)	D31G	probably damaging	Het
Actr2	A	G	11: 20,050,939 (GRCm39)		probably benign	Het
Adcy8	A	G	15: 64,618,862 (GRCm39)	C764R	probably benign	Het
Ago4	A	C	4: 126,410,976 (GRCm39)	F171C	possibly damaging	Het
Akt2	T	C	7: 27,336,395 (GRCm39)	F408S	probably damaging	Het
Ankrd24	T	C	10: 81,474,163 (GRCm39)	L26P	probably damaging	Het
Appl1	A	T	14: 26,650,600 (GRCm39)	M524K	probably damaging	Het
Arhgef11	T	A	3: 87,635,370 (GRCm39)	I922N	probably damaging	Het
Atp5pd	T	C	11: 115,308,744 (GRCm39)	E47G	probably damaging	Het
Birc6	A	G	17: 74,835,755 (GRCm39)	D70G	probably benign	Het
Bola2	G	A	7: 126,295,731 (GRCm39)	V56M	probably damaging	Het
Cd300lg	A	G	11: 101,944,918 (GRCm39)		probably null	Het
Cdc42bpb	A	G	12: 111,271,393 (GRCm39)		probably benign	Het
Ceacam20	A	G	7: 19,710,185 (GRCm39)	N403S	probably damaging	Het
Cenpf	T	C	1: 189,391,847 (GRCm39)	M662V	probably benign	Het
Chd3	C	A	11: 69,239,327 (GRCm39)	E1607*	probably null	Het
Chtf18	A	T	17: 25,946,285 (GRCm39)	Y9*	probably null	Het
Clta	A	G	4: 44,032,424 (GRCm39)	N200S	probably benign	Het
Csmd1	G	A	8: 16,129,956 (GRCm39)	S1722F	possibly damaging	Het
Cyria	C	T	12: 12,412,350 (GRCm39)	T204I	probably damaging	Het
Dhx57	T	C	17: 80,546,343 (GRCm39)	K1347R	probably damaging	Het
Dmc1	A	T	15: 79,480,441 (GRCm39)		probably benign	Het
Dnhd1	G	T	7: 105,370,131 (GRCm39)	A4519S	probably benign	Het
Dnmbp	A	G	19: 43,838,466 (GRCm39)	C1120R	probably benign	Het
Efs	C	T	14: 55,154,680 (GRCm39)	A427T	probably damaging	Het
Erich6	T	C	3: 58,531,799 (GRCm39)	E399G	probably damaging	Het
Espl1	A	G	15: 102,225,083 (GRCm39)	T1431A	probably benign	Het
Fam184b	A	G	5: 45,690,120 (GRCm39)	S830P	probably damaging	Het
Herc1	T	A	9: 66,355,357 (GRCm39)	C2203S	probably damaging	Het
Itpr1	G	A	6: 108,326,637 (GRCm39)	V120M	probably damaging	Het
Kcnh7	G	A	2: 62,546,503 (GRCm39)	T1026I	probably benign	Het
Kif1b	A	G	4: 149,345,658 (GRCm39)	I394T	probably benign	Het
Ldlrap1	A	C	4: 134,484,733 (GRCm39)	V87G	probably damaging	Het
Lgals12	C	T	19: 7,580,403 (GRCm39)	V155I	probably damaging	Het
Limch1	A	T	5: 67,116,933 (GRCm39)	N116I	probably damaging	Het
Lonp2	C	T	8: 87,361,518 (GRCm39)	R232C	probably damaging	Het
Lrch1	C	A	14: 75,073,186 (GRCm39)	C151F	probably benign	Het
Lrig3	A	G	10: 125,842,812 (GRCm39)	Y579C	probably damaging	Het
Macf1	T	C	4: 123,327,068 (GRCm39)	S4808G	probably damaging	Het
Mapkap1	A	T	2: 34,513,494 (GRCm39)	K501N	probably damaging	Het
Mdc1	G	T	17: 36,165,337 (GRCm39)	R1523L	probably benign	Het
Mlh3	C	T	12: 85,312,914 (GRCm39)		probably benign	Het
Mul1	T	C	4: 138,165,032 (GRCm39)		probably benign	Het
Mybl2	G	A	2: 162,901,411 (GRCm39)		probably benign	Het
Notch1	G	C	2: 26,350,470 (GRCm39)	H2223Q	probably benign	Het
Notch2	C	A	3: 98,053,936 (GRCm39)	L2200M	probably benign	Het
Odad3	G	T	9: 21,904,848 (GRCm39)	R313S	probably damaging	Het
Or10ak8	A	T	4: 118,774,667 (GRCm39)		probably null	Het
Or12k5	G	A	2: 36,895,057 (GRCm39)	R190*	probably null	Het
Or5ae2	T	A	7: 84,506,196 (GRCm39)	F206L	probably benign	Het
Or8a1b	T	C	9: 37,623,236 (GRCm39)	Y113C	probably damaging	Het
Plekhs1	T	C	19: 56,465,722 (GRCm39)		probably null	Het
Ppm1h	G	A	10: 122,777,260 (GRCm39)	G509R	probably damaging	Het
Ppp2r3c	C	T	12: 55,345,207 (GRCm39)	E94K	probably damaging	Het
Ppp2r5e	T	A	12: 75,509,164 (GRCm39)	I372F	probably damaging	Het
Ptprt	G	A	2: 162,119,990 (GRCm39)	T159I	probably benign	Het
Rab20	A	G	8: 11,504,415 (GRCm39)	F95S	probably damaging	Het
Rfc3	A	C	5: 151,574,616 (GRCm39)	M1R	probably null	Het
Skp2	A	G	15: 9,125,280 (GRCm39)	S100P	probably damaging	Het
Smg5	T	C	3: 88,256,540 (GRCm39)	S269P	probably benign	Het
Sspo	A	T	6: 48,432,352 (GRCm39)	T684S	probably benign	Het
Syt3	A	G	7: 44,042,782 (GRCm39)	K355E	probably damaging	Het
Tcp10a	A	T	17: 7,610,903 (GRCm39)	K355N	probably damaging	Het
Tnrc18	A	G	5: 142,750,800 (GRCm39)		probably benign	Het
Tsfm	A	G	10: 126,866,339 (GRCm39)	L74P	probably benign	Het
Ttn	G	C	2: 76,564,609 (GRCm39)	N28509K	probably damaging	Het
Ube2l6	G	A	2: 84,629,252 (GRCm39)	M1I	probably null	Het
Vmn2r80	T	A	10: 79,005,330 (GRCm39)	H322Q	probably damaging	Het
Zkscan8	A	T	13: 21,706,441 (GRCm39)	S212T	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
R0010:Dennd4a	UTSW	9	64,803,997 (GRCm39)	missense	probably benign	0.00
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

Predicted Primers

PCR Primer
(F):5'- TGCATCCCTGGAATGTCACCACTC -3'
(R):5'- GTCACACTTGCTACACAACGCTTG -3'

Sequencing Primer
(F):5'- TGGAATGTCACCACTCACCTG -3'
(R):5'- TACTAGGTAGTAACAAGGATCAGC -3'

Posted On

2013-04-11